Baebies Receives FDA Breakthrough Device Designation for First Point-of-Care Heparin Monitoring Test
Durham, NC – April 23, 2025 Baebies has received Breakthrough Device Designation from the U.S. Food and Drug Administration (FDA) for its Anti-Factor Xa test on the FINDER® platform—the first point-of-care heparin monitoring assay. Designed for patients receiving unfractionated or low molecular weight heparin, the test provides results in under 15 minutes from just 50 µL of whole blood. This designation recognizes the test’s potential to bring heparin monitoring closer to the patient, enabling faster and more effective dose management in critical care settings. “This designation provides priority FDA review and dedicated regulatory guidance, accelerating our efforts to bring the test to market,” said Richard West, Founder and CEO of Baebies. “It positions FINDER to expand rapidly into the multi-billion-dollar coagulation testing space.”
Heparin dosing requires tight control to prevent both bleeding and clotting complications. In high-risk settings such as extracorporeal membrane oxygenation (ECMO), mortality rates are often around 50%, and bleeding occurs in over a third of patients. Anti-Factor Xa tests—the preferred method for guiding therapy—are confined to central labs and often take over an hour, delaying time-sensitive dosing.
“It is rewarding to see our long-standing, NIH-funded collaboration with Baebies achieve FDA breakthrough,” said Dr. Sitaram Emani, Associate Professor of Surgery at Harvard Medical School. “I look forward to the test supporting timely anticoagulation decisions and advancing heparin management.”Unlike existing tests, the FINDER Anti-Factor Xa Test* requires no centrifugation and can be run directly at the point of care or in a central lab, delivering results in minutes. It addresses a life-threatening condition, offers significant advantages over existing methods, introduces breakthrough technology where no cleared alternatives exist, and serves the best interest of patients—meeting the FDA Breakthrough Device criteria.
“We’re growing beyond our pediatric roots to serve broader populations by bringing multifunctional diagnostics to patients of all ages, wherever care is delivered,” said Vamsee Pamula, PhD, Founder and President of Baebies.
Baebies is a diagnostics company headquartered in Research Triangle Park, North Carolina. With over 22 million tests delivered globally, Baebies is a technology leader that pioneered digital microfluidics (DMF). Its multifunctional FINDER platform supports chemistry, immunoassay, molecular, and coagulation testing from small-volume samples. Baebies was awarded the ADLM Disruptive Technology Award. Driven by its mission—Any Test, Anywhere, Everyone™—Baebies is shaping a future where diagnostic testing is accessible everywhere, delivering better healthcare for everyone—across every age and setting.
Baebies Expands Its Vision: Any Test, Anywhere, Everyone™
After delivering more than 22 million healthy starts, Baebies—like all babies do—has grown. What began with a focus on newborn screening has now expanded to cover diagnostics for all ages, recognizing that our technology is just as impactful for adults as it is for infants.
Our mission has evolved from “everyone deserves a healthy start” to everyone deserves to be healthy, where any test can be taken anywhere, for everyone.
A Strategic Licensing Path for Newborn Screening
As part of our broader vision, Baebies has licensed and transferred its newborn screening business to a strategic partner. This ensures that newborn screening customers remain well-supported while unlocking resources for Baebies to accelerate innovation in multifunctional diagnostics.
Vamsee Pamula, Ph.D., Co-Founder and President of Baebies, explains: “After delivering 22 million healthy starts, we realized that our digital microfluidics technology has the potential to serve all patients—not just newborns. Our vision has expanded because the underlying digital microfluidics is equally applicable across all age groups. By broadening our scope, we unlock its full potential to provide rapid, accessible testing for anyone, anywhere. Our mission now is clear: everyone deserves to be healthy, where any test can be taken anywhere, for everyone.”
Richard West, Co-Founder and CEO of Baebies, adds: “Licensing our newborn screening solutions to our strategic partner allows us to ensure the full potential of newborn screening is realized while enabling Baebies to focus on advancing cost-effective, multifunctional point of care testing solutions for newborns, pediatrics, and adults alike. Our technology is designed to make diagnostics more accessible, ensuring that patients across all age ranges benefit from fast, reliable, and comprehensive testing.”
Expanding Access to Multifunctional Testing
Baebies pioneered multifunctional testing, opening new possibilities in rapid, versatile, and accessible diagnostics. Powered by our proprietary digital microfluidics technology, Baebies’ approach integrates molecular, immunoassay, chemistry, and coagulation testing on a single, compact platform – eliminating the need for separate instruments. At the heart of our work is FINDER®, theonly multifunctional diagnostic platform demonstrating capabilities across molecular, immunoassay, chemistry, and coagulation testing. This breakthrough enables fast, comprehensive results from a small-volume sample, transforming diagnostics across hospitals, clinics, pharmacies, and decentralized care settings. With its ability to deliver fast, reliable results from a single small-volume sample, FINDER is transforming diagnostics in hospitals, clinics, pharmacies, and decentralized care settings.
FINDER G6PD chemistry test is FDA-cleared and in use across the U.S. and internationally.
Additional tests in molecular, coagulation, and immunoassays are advancing through clinical studies, broadening FINDER’s impact on timely, comprehensive patient insights.
Beyond FINDER, Baebies is developing a next-generation handheld platform with the same multifunctional capabilities, designed for even more distributed and accessible testing.
Our track record of turning early-stage R&D funding from organizations such as NIH, CDC, RADx, and BARDA into successful products underscores our commitment to innovation.
Recognition and Future Outlook
FINDER has already garnered significant industry acclaim, including the prestigious Disruptive Technology Award and the People’s Choice Award at the Association for Diagnostics & Laboratory Medicine (ADLM), reinforcing its role in shaping the future of diagnostics.
Baebies remains headquartered in Research Triangle Park, North Carolina, with a satellite facility in Hyderabad, India. From these hubs, we continue to make advanced testing solutions available to more people, in more places, than ever before.
We’re excited to share this update as Baebies continues to grow and expand its impact. By licensing our newborn screening business to a trusted partner, we ensure that newborn screening customers remain well-supported while we focus on advancing multifunctional diagnostics for patients of all ages. This strategic move allows us to accelerate innovation and broaden access to rapid, reliable testing, staying true to our mission:
Any Test, Anywhere, Everyone™.
Baebies is shaping a future where diagnostics are no longer bound by complexity, location, or patient age—because healthcare should work for everyone, everywhere.
Feasibility of PT, aPTT, and Fibrinogen on a Multifunctional Digital Microfluidic Cartridge
In severe trauma patients, rapid and accurate measurement of multiple coagulation parameters is critical for correcting coagulopathy and improving patient outcomes. However, existing technologies are unable to perform multiple coagulation assays simultaneously on a single consumable in a near-patient, rapid-testing format. This gap in diagnostic capability delays decision-making and impedes timely interventions in critical care settings.
In this study, presented at the 2024 Annual Meeting of the Association for Diagnostic Laboratory Medicine (ADLM) in Chicago, we explore a rapid (<15 minutes), point-of-care multifunctional digital microfluidic (DMF) platform designed to simultaneously measure key coagulation markers—prothrombin time (PT), activated partial thromboplastin time (aPTT), and fibrinogen—using low-volume whole blood samples (<50 μL). We demonstrate that PT, aPTT, and fibrinogen results correlate strongly with comparator testing in plasma samples. We are currently adapting these assays for use on whole blood, making them ideal for point-of-care testing. This advanced DMF platform, with its quick turnaround time, has the potential to significantly enhance hemostatic resuscitation, allowing clinicians to make more informed decisions and improve the management of coagulation in severe trauma patients.
A Digital Microfluidic Sepsis Diagnostic Predicts Bacterial Infection Status Using Host Transcription Response
Early diagnosis of sepsis is critical due to its long-term health consequences and high mortality rate. However, typical diagnostic procedures for suspected sepsis, such as blood cultures, take hours to days to yield results. Differentiating between bacterial infections and illnesses caused by other etiologies is necessary to inform appropriate intervention, including the decision to administer or withhold antibiotics, and to prepare the warfighter to return to service. A rapid diagnostic test that predicts the likelihood of bacterial infection in suspected sepsis cases can help guide clinicians to appropriate treatment, reduce unnecessary antibiotic use, and help curb antimicrobial resistance.
In this poster presented at the Military Health System Research Symposium (MHSRS) 2024, we introduce a digital microfluidic (DMF) assay run on a point-of-care device and cartridge that differentiates bacterial infection from non-bacterial illness using a panel of 10 mRNA targets. We demonstrated the feasibility of a point-of-care transcriptomic host response assay that discriminates bacterial infection from non-bacterial illness, achieving 80% positive predictive accuracy (PPA) and 90% negative predictive accuracy (NPA) by analyzing 10 host mRNA markers from a single drop of blood (<50 μL).
This research was done in collaboration with Duke University School of Medicine, and we envision that the DMF Host Response Assay could serve as a complementary diagnostic tool for assessing suspected sepsis cases, providing significant clinical information hours to days earlier than traditional blood cultures, and helping to reduce unnecessary antibiotic usage in military settings.
Novel Fluorometric Assay for Pediatric Anti-Factor Xa Testing: Minimizing Bilirubin and Hemolysis Interference in Whole Blood
High bilirubin levels, commonly observed in pediatric patients and those undergoing extracorporeal membrane oxygenation (ECMO), can interfere with chromogenic assays for anti-Factor Xa (aFXa) activity. Other known interferents for aFXa assays include hemoglobin, platelet activation, and platelet factor 4 (PF4). While frequent monitoring of aFXa activity is crucial for managing acute anticoagulation therapy, particularly in pediatric and neonatal patients, repeated blood draws may lead to iatrogenic anemia, presenting a significant challenge for these vulnerable populations.
In this poster presented at ADLM 24, we showcase a point-of-care digital microfluidic (DMF) platform that is under development for a fluorescence-based aFXa activity assay. This assay requires low-volume whole blood samples (<50 μL) and integrates plasma separation.
Key findings include:
Our interference studies show that the aFXa assay is highly tolerant to elevated bilirubin and hemolysate levels.
Plasma separation in the cartridge produces results equivalent to platelet-poor plasma, as confirmed by PF4 levels and platelet counts.
Ongoing clinical studies are focused on validating the clinical performance of this point-of-care aFXa assay.
Investigation into the Prevalence of G6PD Deficiency in a Pediatric African American Population Using A Near-Patient Diagnostic Platform
A need for rapid G6PD assessment
G6PD deficiency is the most common enzyme deficiency in humans, affecting millions worldwide. G6PD-deficient individuals may suffer life-threating complications from hemolysis triggered by certain foods, drugs, and infections. G6PD-deficiency in newborns can lead to high bilirubin levels that in some cases can progress to irreversible brain damage. The World Health Organization recommends screening for G6PD deficiency in populations with a prevalence greater than 3-5%. Prior studies have shown rates of G6PD-deficiency among African Americans, particularly males, can be as high as ~12%. G6PD deficient individuals that are unaware of their status may face lifelong complications of varying severity, highlighting the value of early diagnosis.
A recent study conducted at Children’s Healthcare of Atlanta aimed to determine the prevalence of G6PD deficiency among African American pediatric patients, using the FINDER G6PD test. The investigation involved analysis of 200 de-identified whole blood specimens from African American pediatric patients. Study findings revealed a 15.5% and 2.9% prevalence of G6PD deficiency among males and females respectively.
An excerpt from the article:
“Our results reinforce that there may be a significant population of African American patients, especially male, that may not be known to be G6PD-deficient, and that this condition is not being considered when medical decisions are being made about their care.” – Leung-Pineda et al.1
Leung-Pineda et al. “Preliminary Investigation into the Prevalence of G6PD Deficiency in a Pediatric African American Population Using a Near-Patient Diagnostic Platform.” Diagnostics 13.24 (2023): 3647.
Digital Microfluidic Point of Care Platform for Molecular Detection of STI Pathogens Including Drug-Resistant Gonorrhea
Untreated sexually transmitted infections (STIs) are associated with numerous comorbidities, including decreased fertility, an increased risk of cervical cancer, a higher risk of HIV/AIDS, and neonatal complications. Most STIs are highly treatable, and rapid, point-of-care pathogen identification coupled with antibiotic resistance testing would significantly improve initial health outcomes, reduce follow-up appointments, and support personalized healthcare.
In this poster presented at the Association for Molecular Pathology (AMP) 2023 Annual Meeting & Expo in Salt Lake City, Utah, we introduced a digital microfluidic (DMF) molecular diagnostic platform that identifies Chlamydia trachomatis (CT), Neisseria gonorrhoeae (NG), ciprofloxacin-resistant NG, and Trichomonas vaginalis (TV) from urine and vaginal swab samples within 20 minutes.
Diagnostic considerations for viral respiratory illness in pediatric urgent cares
What is Pediatric Urgent Care?
The landscape of healthcare options in the United States has undergone significant expansion, further accelerated by the recent COVID-19 pandemic. One emerging model is the Pediatric Urgent Care (PUC), with roots dating back to the 1980s1 and a notable increase to approximately 1,600 sites in the U.S. as of 20172.
PUCs play a key role in bridging the gap between Primary Care settings and Emergency Departments (EDs). Central to their growth is the convenience they offer to patients and families. While primary care may have limited timing and availability, emergency rooms often entail longer waits1. Moreover, there is a substantial financial cost for parents or caregivers waiting in the waiting room, estimated at $43 for an average 2-hour visit in 2015 ($56 in 2024 dollars), surpassing the average out-of-pocket copay at that time of $323 .
Distinguishing themselves from traditional urgent care, PUCs specialize in pediatrics (<21 years of age). “Children are not small adults” is a familiar refrain to many pediatricians that has relevance in Urgent Care. Recognizing the unique needs of children, PUCs have providers with extensive pediatric training and are equipped with pediatric-specific tools4. While primary care and emergency rooms remain optimal in specific cases, particularly for newborns (<2 months old), PUCs occupy a vital niche, offering convenience and specialized care for a range of scenarios 5,6,7,8.
What role do Pediatric Urgent Cares play during surges of viral illness?
PUCs have played a key role in treating patients during outbreaks of viral illness such as H1N1 influenza, Zika, and the COVID-19 pandemic. For instance, during the 2009 H1N1 outbreak, a hospital-affiliated PUC system in Kansas City witnessed PUC volumes surpassing those of the Emergency Department9. Throughout the COVID-19 pandemic, PUCs emerged as vital hubs for care, testing, and evidence-based guidance. The first case of community spread COVID-19 was identified at a Seattle-based PUC, underscoring the PUC’s role as a critical front-line provider and public health contributor through disease surveillance10. PUCs with laboratory capabilities developed protocols for recognizing multisystem inflammatory syndrome in children (MIS-C), a rare inflammatory syndrome in children associated with SARS-CoV-211,12.
Given the stress of the COVID-19 pandemic on our healthcare system and the closing of many pediatric hospitals across the US13, healthcare facilities are compelled to achieve more with fewer resources. Effective outpatient diagnosis in settings like PUCs facilitates optimal patient management, steering clear of unnecessary ED visits and enabling higher acuity care through streamlined information sharing.
What viral respiratory illnesses may be encountered in this setting?
A whole range of viruses cause respiratory illness in children, these include rhinovirus, metapneumovirus, RSV, SAR-CoV-2, Influenza, Adenovirus, Parainfluenza, parechovirus, enterovirus, among others. During the winter of 2022-2023, we experienced a ‘Triple-demic’ of flu, SARS-CoV-2, and RSV; with a high number RSV pediatric emergency visits14. Diagnosing the specific agents responsible for respiratory illnesses is challenging due to the often-overlapping symptoms of many viral infections15. Thus, alongside a comprehensive medical history and a clinical exam; diagnostic testing is a critical tool to make accurate, timely diagnoses and optimize isolation procedures and patient management.
What types of tests are used for diagnosing respiratory illness?
For diagnosing respiratory illnesses, two commonly used types of tests are antigen tests and nucleic acid amplification tests (NAATs). During the COVID 19 pandemic, home-based antigen tests became popular which were widely distributed free-of-charge16. Antigen tests look for a protein on the virus; nucleocapsid protein (N) on SARS-CoV-2 for example17. Antigen tests are known for their speed, cost-effectiveness, and suitability for screening. However, antigen tests often miss infections (false negatives); particularly so for RSV, where sensitivity (the ability of the test to find infected individuals) can be <80%18,19. Viral loads tend to be lower early on in viral infection; for instance, SARS-CoV-2 antigen positivity may lag PCR positivity by 1-2 days20. Due to relatively lower sensitivity compared to PCR, a negative antigen test cannot rule out the possibility of infection.
On the other hand, nucleic acid amplification tests (NAATs) utilize polymerase chain reaction (PCR) or Isothermal amplification detect viral nucleic acids. PCR is considered the gold standard method for viral illness because of its very high sensitivity. Isothermal amplification tests generally fall in between PCR and antigen tests in terms of sensitivity21,22, but can have advantages of speed, cost, and ease of use. Early versions of PCR tests required specialized personnel and equipment; thus, limiting their use to hospital labs with result turnaround times of 1-2 hours. Longer turnaround time and test complexity largely prevented conventional PCR tests from being used in outpatient settings such as PUCs.
Next-generation point-of-care PCR tests
Over years of technical development and accelerated by the COVID-19 pandemic, PCR testing has transitioned from specialized hospital labs to near patient settings; with point-of-care (POC) PCR tests reaching some clinics. POC PCR tests seamlessly blend the gold standard accuracy of PCR with significantly enhanced speed and ease of use. The latest PCR test panels are designed to detect multiple pathogens from a single patient sample; helping to address the inherent difficulty of respiratory diagnosis due to overlapping symptoms. By rapidly testing for multiple pathogens with high accuracy, next-generation PCR tests promise better patient care, infection control, and patient management. The rapid delivery of accurate results enables clinicians to promptly administer tailored treatment to the appropriate patient, such as initiating antiviral medications when necessary and preventing unnecessary antibiotic overuse. While research is in an early phase, given the recent development of rapid POC PCR tests, some studies have hinted at possible benefits. For instance, one study found improved antiviral prescriptions with POC PCR in an urgent care setting23. Ideally, with improved diagnostic tools, parents and children have fewer return visits, more peace of mind with a confirmed diagnosis, and an expedited journey toward recovery.
References
Sankrithi, Usha, and Jeffrey Schor. “Pediatric urgent care—new and evolving paradigms of acute care.” Pediatric Clinics 65.6 (2018): 1257-1268
Zhao, Xian, et al. “Pediatric urgent care education: a survey-based needs assessment.” BMC health services research 19.1 (2019): 1-6
Ray, Kristin N., et al. “Opportunity costs of ambulatory medical care in the United States.” The American journal of managed care 21.8 (2015): 567
Montalbano A, Lee B. Preparedness for emergencies in pediatric urgent care settings. J Urgent Care Med. 2020;15(1)
Conners, Gregory P., et al. “Nonemergency acute care: when it’s not the medical home.” Pediatrics 139.5 (2017)
Conners, Gregory P., et al. “Was the pediatric emergency department or pediatric urgent care center setting more affected by the fall 2009 H1N1 influenza outbreak?.” Clinical pediatrics 50.8 (2011): 764-766
Janke, Alexander T., et al. “Emergency Department Care for Children During the 2022 Viral Respiratory Illness Surge.” JAMA Network Open 6.12 (2023): e2346769-e2346769.
Ferrani, Salim, et al. “Diagnostic accuracy of a rapid antigen triple test (SARS-CoV-2, respiratory syncytial virus, and influenza) using anterior nasal swabs versus multiplex RT-PCR in children in an emergency department.” Infectious Diseases Now 53.7 (2023): 104769
Bernstein, David I., et al. “Summarizing Study Characteristics and Diagnostic Performance of Commercially Available Tests for Respiratory Syncytial Virus: A Scoping Literature Review in the COVID-19 Era.” The Journal of Applied Laboratory Medicine 8.2 (2023): 353-371
Puhach, Olha, Benjamin Meyer, and Isabella Eckerle. “SARS-CoV-2 viral load and shedding kinetics.” Nature Reviews Microbiology 21.3 (2023): 147-161
Rhoads, Daniel D., et al. “Comparison of Abbott ID Now, DiaSorin Simplexa, and CDC FDA emergency use authorization methods for the detection of SARS-CoV-2 from nasopharyngeal and nasal swabs from individuals diagnosed with COVID-19.” Journal of clinical microbiology 58.8 (2020): 10-1128
Han, Eunhee, et al. “Analytical performance of the Abbott ID NOW 2.0 assay for SARS-CoV-2 detection in clinical samples from symptomatic patients.” Diagnostic Microbiology and Infectious Disease 108.3 (2024): 116164.
Benirschke, Robert C., et al. “Clinical impact of rapid point-of-care PCR influenza testing in an urgent care setting: a single-center study.” Journal of clinical microbiology 57.3 (2019): 10-1128.
Drugs with Warnings and Contraindications for G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is among the most common human enzyme defects, present in about 400 million people across the globe1. Approximately 80,000 newborns are born with G6PD deficiency each year in the US alone2. G6PD deficiency is an inherited genetic disorder that affects red blood cells (RBCs)3. Individuals with G6PD deficiency have a reduced ability to defend RBCs against oxidative stress, resulting in hemolysis (the destruction of red blood cells) when exposed to certain triggers. Human migration and the concomitant increase in population diversity has increased the likelihood for clinicians to encounter G6PD deficiency outside of historically higher prevalence regions4,5. The disorder affects about 10%-13% African-American men6,7, and is also common in people from the Mediterranean region, Africa, or Asia8. Although the estimated percentage of Caucasians affected with G6PD deficiency is relatively low (0.2-0.3%)9, considering a US population of 334 million and current demographics10, roughly 700,000 Caucasian individuals are currently living with G6PD deficiency. Some individuals may not be aware of their G6PD status11.
Compounds that present a risk to G6PD-deficient individuals include certain foods such as fava beans12, some chemicals such as naphthalene found in moth balls13 and several medicines. In fact, early insight into the biology of G6PD deficiency came from research on hemolysis caused by antimalarial drugs observed only in certain populations14. As tabulated by the G6PD deficiency association, 143 drug compounds are stratified as high, medium, and low risk to those with G6PD deficiency15. A recent search for “glucose-6-phosphate dehydrogenase (G6PD) deficiency” on the FDA’s Drug Product Labelling Website, yields 1 result found in the “Boxed Warning” section (Rasburicase), 13 results found in the “Contraindications” section, and 225 results found in the “Warning and Precautions” section of drug labelling16 . While the actual number of unique compounds from this text search is smaller; different drug forms and producers contribute to the number of search results with “glucose-6-phosphate dehydrogenase (G6PD) deficiency” in the labelling. To manage their condition, individuals with G6PD deficiency need to be aware of drugs that can potentially exacerbate their condition.
Drugs with contraindications for G6PD Deficiency
In this blog, we will discuss multiple drugs that have warnings or contraindications for individuals with G6PD deficiency. When G6PD-deficient individuals are exposed to triggers such as these medications, it can lead to a breakdown of red blood cells, resulting in hemolysis and associated symptoms like anemia, jaundice, and dark urine. The figure below shows the distribution of all the drugs in different therapeutic areas that have either a black box warning or contra-indication for G6PD deficiency.
Below is a list of the different classes of drugs with warnings or contra-indications for G6PD Deficiency
Antimalarial Drugs: Some antimalarial medications, like primaquine and tafenoquine, are known to cause severe hemolysis in individuals with G6PD deficiency. They are often avoided in these patients, although they may be prescribed under strict medical supervision17.
Sulfonamides: Drugs in this class, such as sulfamethoxazole, can trigger hemolysis in some G6PD-deficient individuals18,19. They are commonly used in antibiotics with a brand name of Bactrim and should be used with caution20 or avoided in such cases. A total of 5 million prescriptions of Bactrim are given each year in the USA21.
Nitrofurantoin: This antibiotic is used to treat urinary tract infections and may cause hemolysis in individuals with G6PD deficiency22. They are available with brand names Furadantin or Ivadantin with over 4 million prescriptions given each year in the USA23.
Dapsone: With over 250,000 prescriptions per year in the USA24, Dapsone is used to treat various skin conditions and is known to cause severe hemolysis in G6PD-deficient individuals25.
Isoniazid: Used in the treatment of tuberculosis, isoniazid can cause drug-induced hemolysis26 and should be used cautiously in G6PD-deficient patients.
Rasburicase: This drug is used to prevent and treat high uric acid levels in cancer patients receiving chemotherapy. Rasburicase can lead to hemolysis in individuals with G6PD deficiency27 and should be avoided.
Methylene Blue: Used as a dye in certain medical procedures and as a treatment for methemoglobinemia, methylene blue can cause hemolysis in individuals with G6PD deficiency28.
Vitamin K Analogues: Some vitamin K analogues, such as menadione (Vitamin K3), have been associated with hemolysis in individuals with G6PD deficiency29 and should be avoided in favor of other vitamin K formulations30.
G6PD testing is essential before administering drugs
It is important to note that the severity of the reaction to these drugs can vary among individuals with G6PD deficiency. Some individuals may tolerate certain medications better than others. However, it’s generally advisable for healthcare providers to exercise caution when prescribing these drugs or consider alternative treatments. Some of the drugs that are mentioned above are prescribed without prior diagnosis for G6PD deficiency with the potential to result in adverse reactions, see case report in31.
Additionally, many of these compounds can potentially transfer from mother to baby through breast milk32. This is known as drug excretion into breast milk, and it can vary depending on the specific drug, and the physiological characteristics of the mother and baby. It is critical to test individuals for G6PD deficiency before administering certain therapies to avoid severe adverse outcomes. For newborns, it is even more critical to ensure G6PD testing is performed before discharge to ensure proper treatment decisions are made both for the newborn and the mother with alternative drug treatments as required.
Conclusion
Individuals with G6PD deficiency must be vigilant about drugs they take to avoid potential complications and life-threatening hemolysis. It is essential for patients to inform their healthcare providers about their G6PD deficiency, and for healthcare providers to carefully consider the risks and benefits of medications when treating such individuals. It is critical that G6PD testing is performed before administering these therapies with contraindications and black box warnings. Additionally, research into G6PD deficiency and its interactions with medications continues, and new findings may lead to updates in treatment guidelines.
References
Mason, Philip J. “New insights into G6PD deficiency.” British journal of haematology 94.4 (1996): 585-591
Vidavalur, Ramesh, and Vinod K. Bhutani. “Estimates of Racial Diversity of National (USA) glucose-6-phosphate Dehydrogenase Deficiency (G6PDd) Prevalence Among Newborns.” Pediatrics 149.1 Meeting Abstracts February 2022 (2022): 670-670
Van den Heuvel, E. A. L., et al. “A rare disorder or not? How a child with jaundice changed a nationwide regimen in the Netherlands.” Journal of Community Genetics 8.4 (2017): 335
Kristensen, Line, et al. “A greater awareness of children with glucose‐6‐phosphate dehydrogenase deficiency is imperative in western countries.” Acta Paediatrica 110.6 (2021): 1935-1941
Kaplan, Michael, et al. “Neonatal hyperbilirubinemia in African American males: the importance of glucose-6-phosphate dehydrogenase deficiency.” The Journal of pediatrics 149.1 (2006): 83-88
Leung-Pineda, Van, Elizabeth P. Weinzierl, and Beverly B. Rogers. “Preliminary Investigation into the Prevalence of G6PD Deficiency in a Pediatric African American Population Using a Near-Patient Diagnostic Platform.” Diagnostics 13.24 (2023): 3647
Nkhoma, Ella T., et al. “The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.” Blood Cells, Molecules, and Diseases 42.3 (2009): 267-278
Chinevere, Troy D., et al. “Prevalence of glucose-6-phosphate dehydrogenase deficiency in US Army personnel.” Military medicine 171.9 (2006): 905-907
Chisholm-Burns MA, Patanwala AE, Spivey CA. Aseptic meningitis, hemolytic anemia, hepatitis, and orthostatic hypotension in a patient treated with trimethoprim-sulfamethoxazole. Am J Health Syst Pharm. 2010 Jan 15;67(2):123-7. doi: 10.2146/ajhp080558. PMID: 20065266
Reinke CM, Thomas JK, Graves AH. Apparent hemolysis in an AIDS patient receiving trimethoprim/sulfamethoxazole: case report and literature review. J Pharm Technol. 1995 Nov-Dec;11(6):256-62; quiz 293-5. doi: 10.1177/875512259501100607. PMID: 10157546.
Lu, Y. W., and T. C. Chen. “Use of Trimethoprim-Sulfamethoxazole in Patient with G6PD Deficiency for Treating Pneumocystis Jirovecii Pneumonia.” Clin Case Rep Int. 2019; 3 1119
Pamba, Allan, et al. “Clinical spectrum and severity of hemolytic anemia in glucose 6-phosphate dehydrogenase–deficient children receiving dapsone.” Blood, The Journal of the American Society of Hematology 120.20 (2012): 4123-4133
Youngster, Ilan, et al. “Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review.” Drug safety 33 (2010): 713-726
Hammami, M. Bakri, et al. “Rasburicase-induced hemolytic anemia and methemoglobinemia: A systematic review of current reports.” Annals of Hematology (2023): 1-13
Jack Clifton, I. I., and Jerrold B. Leikin. “Methylene blue.” American journal of therapeutics 10.4 (2003): 289-291
Lucey, Jerold F., and Robert G. Dolan. “Hyperbilirubinemia of newborn infants associated with the parenteral administration of a vitamin K analogue to the mothers.” Pediatrics 23.3 (1959): 553-560
Kaplan, Michael, et al. “Effect of vitamin K1 on glucose-6-phosphate dehydrogenase deficient neonatal erythrocytes in vitro.” Archives of disease in childhood. Fetal and neonatal edition 79.3 (1998): F218
Foltz, Lynda M., et al. “Recognition and management of methemoglobinemia and hemolysis in a G6PD‐deficient patient on experimental anticancer drug Triapine.” American journal of hematology 81.3 (2006): 210-211
Corchia C, Balata A, Meloni GF, Meloni T. Favism in a female newborn infant whose mother ingested fava beans before delivery. J Pediatr 1995; 127:807-8
*All reference websites were accessed as of date 1.26.2024
A Digital Microfluidic Sepsis Diagnostic Predicts Bacterial Infection Status Using Host Transcriptomic Response
Sepsis, a life-threatening condition with severe long-term health consequences and a high mortality rate, demands early diagnosis to address its challenges. However, traditional diagnostic procedures, such as blood cultures, often take hours to days to yield results.
Distinguishing between bacterial infection and illnesses caused by other etiologies is critical for informed intervention, guiding decisions on administering or withholding antibiotics. A rapid diagnostic test capable of predicting the likelihood of bacterial infection in suspected sepsis cases can assist clinicians in determining appropriate treatment. This has the potential to reduce unnecessary antibiotic use and contribute to curbing antimicrobial resistance.
In this poster presented at the Association for Molecular Pathology (AMP) 2023 Annual Meeting & Expo in Salt Lake City, Utah, we showcase a digital microfluidic (DMF) assay. This assay effectively differentiates between bacterial infection and non-bacterial illness using a panel of 10 mRNA targets
Preliminary Clinical Method Comparison of a Point-of-Care Platform for anti-Factor Xa in Pediatric Patients on Heparin Therapy
Frequent monitoring for anti-Factor Xa activity (aFXa) and/or activated partial thromboplastin time (aPTT) is required for children receiving heparin therapy to achieve hemostatic balance. However, current heparin tests demand large blood volumes, potentially causing iatrogenic anemia.In this study, we present the preliminary results of a clinical method comparison (12/08/2022 – 6/15/2023) in collaboration with Children’s Healthcare of Atlanta. The study evaluates a rapid (~14-minute), point-of-care digital microfluidic (DMF) platform for aFXa testing. This platform operates directly from low whole blood sample volumes (<50 μL), and the results are compared against an FDA-cleared comparator
Unique Challenges to Heparin Monitoring in Neonatal and Pediatric Populations
A Need for a Near-Patient Rapid Heparin Monitoring Test That Utilizes Low Sample Volume
Each year, around 40,000 newborns are diagnosed with congenital heart defects1and some of them may require surgery and eventualanticoagulation monitoring. Other scenarios for anticoagulation monitoring include those in pediatric intensive care (PICU) or receiving extracorporeal membrane oxygenation (ECMO). Over the past decade, there has been a dramatic increase in the use of anticoagulation therapies in pediatric patients, with up to 15% of hospitalized children receiving heparin or heparinoids2,3,4.
One of the major challenges of anticoagulation therapy in neonates and children is the narrow therapeutic window of various anticoagulants. Additionally, many anticoagulants have complex pharmacodynamic and pharmacokinetic properties that lead to significant variation in anticoagulant response among children, even at the same weight-adjusted dose5. The variation in response is especially pronounced in neonates due to an immature hemostatic system6. This can lead to frequent monitoring (2-3 times per day) to ensure appropriate anticoagulation7.
High-volume Blood Draws Present Significant Risks to Small Children
In a PICU setting, clinicians require a multitude of lab tests, each requiring a significant volume of blood (Fig. 1). Activated Partial Thromboplastin clotting time (aPTT), anti-Factor Xa activity (afXa) and/or anti-thrombin function (ATIII) tests are typically used to monitor heparin therapy. These tests require blood samples of as much as ~2-3 mL from pediatric patients. One study in preterm infants found that on average, roughly one-third of their total blood volume was lost to laboratory tests in their first month of life.8. Frequent blood collection from low-weight patients can cause anemia and may require blood transfusions, which in turn can result in infections, antibiotic therapies, and longer hospital stays.
Fig. 1. Volume of blood in a typical newborn, extremely low birth weight (ELBW) newborn and average volume of blood loss per week during the first 6 weeks of life, portrayed as everyday objects for scale comparison.
Extended Test Turnaround Time Limits Timely Clinical Decision-Making
Anti-factor Xaand ATIII tests are often performed in central laboratories on large–scale instrumentation, requiring sample transport and centrifugation of whole blood to generate plasma. Thisintroducesa lag in follow-up;in some scenarios, results arenot delivered for up to 2 hours.At this time, the heparin status is less accurately reflected by the results delivered to the physician.There is a critical need for anticoagulation tests to be performed near the patient utilizing a lower-volumeblood sample.
Near-Patient Testing for Monitoring Heparin Therapy
Digital microfluidics (DMF) technology is best suited to maximize diagnostic yield by rapidly performing different types of tests near-patient using low sample volume . Feasibility testing ofaDMFafXatestwith a ~ 50 µL whole blood input and ~14 minutes time-to-result was performedin collaboration with Children’s Hospital of Atlanta(For Research Use Only. Not for use in Diagnostic Procedures).Data obtained on the DMF platformcorrelated well withan FDA-approved comparator (poster presented at 2023 ADLM Annual meeting at Anaheim). Further testing of this assay across multiple sites is in progress.
Fig. 2. Comparison of daily volume of blood taken in conventional testing and low sample volume testing, forcombination of tests used in standard heparin therapy monitoring.
A rapid afXatestthat can be performed near–patient and utilizes low blood volume would be a key benefit to neonatal and pediatric patients who are susceptible to anemia due to recurrent lab testing (Fig 2).
**Test is not available for sale or use in any territory at this time.
References
https://www.cdc.gov/ncbddd/heartdefects/data.html
Francis JL, Groce JB, 3rd and Heparin Consensus G. Challenges in variation and responsiveness of unfractionated heparin. Pharmacotherapy. 2004;24:108S-119S.
Newall F, Barnes C, Ignjatovic V and Monagle P. Heparin-induced thrombocytopenia in children. J Paediatr Child Health. 2003;39:289-92.
Raffini L, Huang YS, Witmer C and Feudtner C. Dramatic increase in venous thromboembolism in children’s hospitals in the United States from 2001 to 2007. Pediatrics. 2009;124:1001-8.
Hirsh J, Anand SS, Halperin JL, Fuster V and American Heart A. AHA Scientific Statement: Guide to anticoagulant therapy: heparin: a statement for healthcare professionals from the American Heart Association. Arterioscler Thromb Vasc Biol. 2001;21:E9-9.
Andrew M, Vegh P, Johnston M, Bowker J, Ofosu F and Mitchell L. Maturation of the hemostatic system during childhood. Blood. 1992;80:1998-2005.
McCrindle BW, Li JS, Manlhiot C, Tweddell JS, Giglia TM, Massicotte MP, Monagle P, Krishnamurthy R, Mahaffey KW, Michelson AD, Verdun N, Almond CS, Newburger JW, Brandao LR, Esmon CT, Manco-Johnson MJ, Ichord R, Ortel TL, Chan AK, Portman R, Rose M, Strony J and Kaltman JR. Challenges and priorities for research: a report from the National Heart, Lung, and Blood Institute (NHLBI)/National Institutes of Health (NIH) Working Group on thrombosis in pediatric cardiology and congenital heart disease. Circulation. 2014;130:1192-203.
Counsilman, Clare E., et al. “Iatrogenic blood loss in extreme preterm infants due to frequent laboratory tests and procedures.” The Journal of Maternal-Fetal & Neonatal Medicine 34.16 (2021): 2660-2665.
Digital Microfluidics Proves Its Performance
Following Successful Evaluation, GOSH Team Shares Results in Award-Winning Presentation
A recent evaluation of the SEEKER® digital microfluidics (DMF) platform in the United Kingdom demonstrated its fit-for-purpose as a routine first-tier solution for newborn screening of lysosomal storage disorders (LSDs).
The evaluation was conducted by Rohit Hirachan at the Great Ormond Street Hospital (GOSH) Institute of Child Health laboratory. Mr. Hirachan spent August 2022 through May 2023 using SEEKER to run assays on dried blood spot samples for four LSD assays: MPS I, Pompe, Fabry, and Gaucher diseases.
Last month he shared study results as a poster and oral presentation at the annual British Inherited Metabolic Diseases Group (BIMDG) annual conference, winning Best Presentation among junior member colleagues
“Evidence suggests that early treatment of LSDs leads to more favorable outcomes,” stated Mr. Hirachan from the stage. “DMF could be a wonderful addition to newborn screening as a first-tier test in specialized laboratories.”
Dr. Derek Burke, Laboratory Manager and Lead Healthcare Scientist for the Enzyme Laboratory at GOSH, and Mr. Hirachan’s supervisor, applauded Rohit for his exceptional performance. “Rohit did a fantastic job, in both the evaluation and the presentation. His award was well deserved,”
Dr. Burke was also thrilled with the evaluation findings. “An attractive component of microfluidics is that it utilizes the lysosomal enzyme assays we know – the same components, substrates, co-factors, and inhibitors – and on a much, much smaller platform,” he noted.
“The device does most of the work for you and delivers results in a fraction of the time compared to current methods employed in our lab,” he added.
The Baebies Newborn Screening team extends their heartfelt thanks to Dr. Burke and the GOSH Institute of Child Health team, Dr. Professor Simon Heales of University College London, GOSH, National Hospital for Neurology and Neuroscience, and to Technopath Distributors Limited for their essential roles in the success of this project. Our tremendous gratitude goes to the Mucopolysaccharidosis Society (MPS) UK for their generous funding of this pivotal evaluation.
At Baebies, we view every opportunity to demonstrate the SEEKER digital microfluidics (DMF) platform as a chance to bring newborns one step closer to a healthy start and healthier life.
International Women in Science Day
We’re celebrating International Women in Science Day by spotlighting our CLIA laboratory team! Staffed entirely by women, these scientists are driven by our mission and passionate about finding answers that will help bring timely and proper treatment to those who need it.
Meet the CLIA Laboratory Team
Dr. Zheni Shen, CLIA Laboratory Director
“I’ve always liked biology since I was very young,” shares Dr. Shen. She pursued a 5-year undergraduate program as a medical student and earned a Bachelor of Medicine majoring in Basic Medical Science. The curriculum allowed her to study both clinical and scientific research. “Seeing many clinical cases that were not curable inspired me to further study the underlying mechanisms of diseases and discover possible solutions.”
Alyssa Charamut, Clinical Molecular Technologist
Alyssa has always loved the challenge of a puzzle. Since she was in 5th grade, she’s been fascinated by DNA. “When I was a kid I thought, how can something so small have so much information and make such a big impact on life?”
She went to a small North Carolina school in a rural town and felt fortunate to be in small classes and even smaller, targeted honors and AP classes. It helped fuel her desire to pursue a career in science. Alyssa concentrated her studies on Forensic Science and earned her Bachelor’s degree in Biology at Western Carolina University. Eventually, she would like to earn her Master’s in genetics or lab science.
Diana Sedano, Clinical Laboratory Scientist
Diana remembers the moment she decided science was her calling. “I was watching a TV show about manipulating genes in fruit and vegetables and the variety of ways it affected plants,” she recalls. “It inspired me to seek classes that would increase my knowledge of DNA and genetics.”
Diana attended community college classes while still in high school then entered NC State University as a Biology major. She quickly discovered there are many ways to achieve your goals. “I didn’t get the concentration I wanted so was advised to pursue internships and lab work along with my courses – that it would be equivalent to the information learned in the program.”
Following this advice, she volunteered in labs, doing basic support until she finally “got under the hood!” and subsequently found a paying job at the State Lab of Public Health. Because of her hard work and persistence, she was offered a full-time position upon graduation.
What do they love about what they do?
“Being the director of the CLIA Lab and working with this team, I feel I’m really doing a very meaningful thing,” states Dr. Shen. “I love my role and am very dedicated to delivering timely, state-of-the-art testing results to our clients, excluding or discovering disease and possible indications for proper treatment.” She is also proud that their work connects different functions at Baebies and helps form an integrated department.
Alyssa has always been driven by putting evidence together to solve problems and loves that her role allows her to do that for patients needing solutions to critical medical challenges.
“It’s a great feeling knowing you are giving people results, the answers they need, so they can get the right treatment,” shares Diana. “We are potentially saving someone’s life.”
What advice would you give girls who love science and may want to pursue it as a career?
“Go for it!” replies Alyssa enthusiastically. “The sky’s the limit. If you set your mind to it, you can do it. Look at obstacles as a way to get stronger.”
“Just like doing anything, interest and persistence are the two most important factors,” advises Dr. Shen. “Take several science classes and rotate in several labs to get a better understanding and confirm your passion for science and the specific subfield. Interest and persistence will naturally lead your way to the right track.”
“Put yourself out there or you may get overlooked. Don’t hesitate,” encourages Diana. “They will notice you if you are eager to learn and do what it takes. Ask for opportunities because there are people willing to help you. If you get a ‘no,’ find another opportunity and try again!”
February 11, 2023
Baebies Receives FDA 510(k) Clearance for G6PD Test on FINDER Platform
DURHAM, N.C. – (November 9, 2022)
Baebies has received U.S. Food and Drug Administration (FDA) 510(k) clearance for its rapid, point-of-care test for glucose-6-phosphate dehydrogenase (G6PD) deficiency. The test is run on the FINDER® platform, which features a toaster-sized instrument and a disposable cartridge. Using a 50 µL blood sample (one drop of blood), FINDER delivers results approximately 15 minutes after sample introduction. Test results display G6PD enzyme activity in units per gram of hemoglobin and adjusted male median values. The company announced completion of CE Mark for FINDER in December 2019.“This is a significant milestone not only for our company but for patients whose lives can be improved by detection of G6PD deficiency,” said Richard West, co-founder and CEO of Baebies. “FINDER performs rapid testing from just one drop of blood, making testing easier and more accessible. With G6PD as the first FDA-cleared test on our FINDER platform, we look forward to adding many additional types of tests to the versatile and multifunctional platform.”
G6PD deficiency is the most common enzyme deficiency worldwide, affecting approximately 400 million people. A defect in the G6PD enzyme causes premature destruction of red blood cells, which are a key component of the oxygen carrying system. The most common clinical symptom associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, jaundice, dark urine, fatigue, shortness of breath, and a rapid heart rate. In addition to causing hemolytic anemia, G6PD deficiency is also a significant cause of mild to severe jaundice in newborns and in some cases, can lead to kernicterus.
“Early diagnosis of G6PD deficiency is critical to ensure children and adults living with G6PD deficiency receive the care they need to manage symptoms and prevent complications later on in life,” said Vamsee Pamula, PhD, co-founder and president of Baebies. “I am proud of our team for pioneering yet another test and this time for point of care use so clinicians can identify patients with G6PD deficiency and intervene with support so they can stay healthy.”
Vinod K. Bhutani, MD, FAAP, Professor Emeritus of Pediatrics at Stanford University School of Medicine, and his team of researchers were the first to evaluate the FINDER G6PD assay, assessing device performance and comparing the test to known reference methods. Results of the evaluation were published in Seminars in Perinatology in 2020.
“Recent updates to the AAP clinical practice guidelines on hyperbilirubinemia delineate an urgent need to identify G6PD deficient newborns so as to institute timely interventions such that educational, preventive and treatment options are offered soon after birth,” said Bhutani. “Implementation of this mode of assay in nurseries will allow clinicians to know G6PD enzyme activity before a newborn is discharged from the hospital. In fact, FDA clearance of Baebies’ digital microfluidics assay introduces a new and important diagnostic solution to identify infants with G6PD deficiency, which is among the most important causes of hyperbilirubinemia leading to kernicterus in the U.S. and worldwide.”
The FINDER platform is powered by digital microfluidics (DMF) technology – a method to programmably manipulate tiny droplets of liquid by electrical control of surface tension on a disposable cartridge. DMF technology eliminates the need for mechanical pumps or valves for liquid handling, reducing the required sample volume and providing fast and reliable diagnostic results.
“Our research with Baebies has shown that the FINDER digital microfluidics platform provides rapid G6PD results using a small amount of blood,” said Beverly Rogers, MD, Chief of Pathology at Children’s Healthcare of Atlanta and Adjunct Professor of Pathology and Pediatrics at Emory University School of Medicine. “Identifying G6PD deficient patients provides potentially critical information to providers, and ensures this condition is considered when clinical care decisions are made.”
G6PD deficiency is the first of several assays under development on the FINDER platform. Additional assays under development are focused on addressing unmet needs in hematology and infectious disease through multifunctional syndromic testing, where a seamless combination of multiple types of tests (molecular, chemistry, hematology, immunology, etc) are performed on a single platform to resolve the signs and symptoms associated with a clinical condition.
The FINDER platform and its underlying digital microfluidics technology have been recognized through multiple awards, including the coveted Disruptive Technology Award from the American Association for Clinical Chemistry (AACC), which recognizes innovative testing solutions that will transform patient care.
“From recognition by AACC as a disruptive technology to FDA cleared, Baebies’ FINDER technology is an inspiring example of innovation at work,” said former AACC president David Grenache, PhD, DABCC. “Congratulations to the Baebies team on this monumental achievement that is sure to have a positive impact on patient care.”
About Baebies
Baebies is a growth-stage medical device company developing innovative products to enable early disease detection and multifunctional diagnostics for syndromic testing for children and adults. Guided by the vision that “everyone deserves a healthy start,” we deliver millions of tests globally every year to save lives and make lives better. Baebies is a pioneer in digital microfluidics, which maximizes diagnostic yield from low-volume samples. Baebies is headquartered in Durham, North Carolina, and our products are used in central laboratories and point of care settings around the world.
Rapid, Near-Patient Monitoring of Heparin in Children
Multifunctional Platform for Viscoelastic aPTT and Fluorometric aFXa Whole Blood Testing in Near-Patient Settings for Pediatric Patients on Heparin Therapy
Heparin monitoring tests for anti-Factor Xa activity (aFXa) and activated partial thromboplastin time (aPTT) assays require frequent measurements with large volumes of blood, which may lead to iatrogenic anemia in neonatal and pediatric patients.
In this study, we describe two novel approaches for aFXa and aPTT performed on the multifunctional DMF cartridge using microliter reaction volumes and whole blood sample input, allowing frequent testing in neonatal and pediatric patients susceptible to iatrogenic anemia.
Near-Patient Digital Microfluidics G6PD Assay
Preliminary Investigation into the Prevalence of G6PD Deficiency in a Pediatric African American Population using a Near-Patient Diagnostic Platform
In this study, a near-patient digital microfluidics (DMF) glucose-6-phosphate dehydrogenase (G6PD) assay was used to estimate the prevalence of G6PD deficiency in a pediatric African American cohort.
Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is an X-linked disorder and the most common enzyme deficiency in humans, with a high prevalence in persons of African, Asian, and Mediterranean descent. Neonates with undetected G6PDD are at risk for extreme hyperbilirubinemia.
Ask the Experts: Q&A Session with G6PD Experts, Dr. Mette Donneborg and Dr. Finn Ebbesen
In our Ask the Experts series, we share insights and key takeaways from experts in the Baebies network who are conducting research that contributes to a healthy start for everyone.
Keep reading to explore Dr. Donneborg and Dr. Ebbesen’s answers to questions about their research on G6PD deficiency.
Question #1: What one takeaway do you hope clinicians from non-endemic countries remember about your research on G6PD deficiency?
Answer: Clinicians should be aware of G6PD deficiency in high-risk populations, not just in endemic areas, so that chronic and potentially lethal consequences can be prevented.
Question #2: G6PD deficiency is most common in people from the Mediterranean, Africa or Asia. Why is it important for clinicians in non-endemic Western countries to be aware of G6PD deficiency?
Answer: G6PD deficiency is considered to be a prevalent cause of hyperbilirubinemia in neonates, born preterm or at term in developed countries. The need for phototherapy is greater in infants with a G6PD deficiency than in infants in the general population. Early detection of G6PD deficiency and close surveillance of neonates for hyperbilirubinemia is important and can reduce the risk of extreme neonatal hyperbilirubinemia and kernicterus spectrum disorders.
Question #3: G6PD deficiency is traditionally understood as a disease that affects males. What did your research reveal about its impact on females?
Answer: Females rarely experience symptoms, but we found that one in five affected children were females. The enzyme deficiency and its clinical manifestations are not restricted to males. This finding underlines the need to test females. However, clinicians need to be aware that the enzyme activity levels in heterozygous females are intermediate, but they are extremely variable due to skewed X-inactivation in some erythrocytes.
Question #4: Your research found that G6PD deficiency was a known risk in 27% of children included in the study. How might establishing clinical guidelines for G6PD deficiency diagnosis in Denmark benefit these and other at-risk children?
Answer: The timing and severity of the clinical manifestations of G6PD deficiency is unpredictable and includes sudden and abrupt rise in total serum bilirubin, therefore a guideline to establish early diagnosis of G6PD deficiency would help —at least for some—and increased awareness would also be helpful.
Question #5: Only 18 of the 33 infants who displayed their first symptom of G6PD deficiency in the neonatal period were diagnosed during that early period in their life. How can this be improved?
Answer: This could either be improved by establishing clinical guidelines, increased awareness, or performing G6PD testing on all infants being treated with phototherapy due to hyperbilirubinemia and no other known cause of the hyperbilirubinemia.
Stay tuned for more articles on G6PD deficiency and our next Ask the Experts Q&A on heparin monitoring.
Team Spotlight: CARB-X Project
This week, we’re spotlighting the Baebies CARB -X project team and the work they are doing to address the critical need for a rapid and easy-to-use sepsis diagnostic platform.
Challenged to Combat A Global Threat
In April 2021, global non-profit partnership CARB-X (Combating Antibiotic-Resistant Bacteria Biopharmaceutical Accelerator) awarded Baebies funding for the development of a diagnostic platform with rapid results for sepsis, which leads to approximately one million newborn deaths per year globally.
Rainer Ng, PhD, who heads Technology Development at Baebies and is the PI for the CARB-X project, has spent the past two years hiring and building out his team of 13 scientists and engineers. “This incredible team we have put together has been designed specifically to press on problems with high intensity and velocity. It’s truly been a privilege to be working with everyone in the team.”
A Special Team, A Unique Platform
You can hear the excitement in Rainer’s voice as he explains the emerging technology his team is working on today. He’s been intentional about searching for that same passion while building out Baebies’ Technology Development team.
“Identifying staff with a deep-seated passion for research is critical to making our team’s philosophy work. Sustaining our pace and intensity is only possible if it comes from an innate passion for research and problem-solving.”
The development of the sepsis diagnostic takes place on FINDER®, a highly versatile diagnostics instrument with the ability to perform molecular, immunoassay, hematology, and chemistry assays. By integrating blood culture with FINDER’s microfluidic cartridge, users will be provided information on species identification, antimicrobial susceptibility testing, and gram status in real-time without the need for any hands-on intervention. In addition to blood culture, the platform will also be able to measure expression levels of various genes from just 125 microliters of whole blood to distinguish between different causes of inflammatory responses.
Creativity, Teamwork, and Drive
Numerous technical challenges surfaced during the development of this project which has required a mix of perseverance and creativity to overcome. We had the opportunity to speak with three scientists who have spent the last year working on the CARB-X project.
“I like finding technical solutions to complex problems that have a lasting impact. Knowing that the science might help someone in the future is very rewarding,” said Laura Huning, PhD.
“The Baebies sepsis diagnostic is designed to use multiple methods to provide several types of information to the user – whether an infection is bacterial, what class of bacteria it is, what the bacterial species is – and it will provide this information very quickly from a small sample. Timing of proper treatment has a huge effect on patient outcomes, so our product’s speed will help in making the best choice about treatment for infection,” said Abbey Jackson, PhD.
For Devika Varma, PhD, it has been gratifying to be part of the CARB-X team that is working towards solutions for one of the greatest global healthcare challenges of our times. “I’m enjoying the process of integrating innovative technological ideas with Baebies’ platforms early on, which will potentially get us to a working solution for this big clinical problem faster,” said Devika.
Ernst & Young LLP (EY US) has named our CEO, Richard West, as an Entrepreneur Of The Year® 2022 Southeast Award finalist. Entrepreneur Of The Year is one of the preeminent competitive business awards for entrepreneurs and leaders of high-growth companies who think big to succeed.
Mr. West was selected by a panel of independent judges according to the following criteria – entrepreneurial spirit, purpose, growth, and impact – among other core contributions and attributes.
“The list of finalists is impressive, and I am humbled to be recognized among them,” said Rich West, CEO of Baebies. “Delivering health care equity on a global scale was the driving factor for founding Baebies and remains the passion of its founders and broader team. The beauty of our digital microfluidics platform is it can be transformed into a portable device that takes little time to set up, needs very little space, requires minimal training, and most importantly can dramatically reduce the cost and waste associated with a broad range of diagnostics tests.”
Rich has been an entrepreneurial CEO for twenty-five years across three companies, all located in North Carolina’s Research Triangle Park.
“Developing and commercializing complex products in the diagnostics industry is not for the faint of heart. Your product must work every time; it must comply with challenging regulatory requirements; it must be inexpensive, and it must be highly differentiated. The only way all of these requirements can be met, all at once, is with a great team,” said West.
Regional award winners will be announced on June 15, 2022. The regional winners will then be considered by the National independent judging panel, and National awards will be presented in November at the Strategic Growth Forum®, one of the nation’s most prestigious gatherings of high-growth, market-leading companies. The Entrepreneur Of The Year National Overall Award winner will then move on to compete for the EY World Entrepreneur Of The Year™ Award in June 2023.
For over 35 years, EY US has celebrated the unstoppable entrepreneurs who are building a more equitable, sustainable, and prosperous world for all. The Entrepreneur Of The Year program has recognized more than 10,000 US executives since its inception in 1986. Entrepreneur Of The Year Award winners have exclusive, ongoing access to the experience, insight, and wisdom of fellow alumni and other members of the entrepreneurial community in over 60 countries — all supported by vast EY resources.
Sponsors
Founded and produced by Ernst & Young LLP, the Entrepreneur Of The Year Awards are presented by PNC Bank. In the Southeast, sponsors also include Cresa, King & Spalding LLP, and ADP, LLC.
About Entrepreneur Of The Year® Entrepreneur Of The Year is the world’s most prestigious business awards program for unstoppable entrepreneurs. These visionary leaders deliver innovation, growth, and prosperity that transform our world. The program engages entrepreneurs with insights and experiences that foster growth. It connects them with their peers to strengthen entrepreneurship around the world. Entrepreneur Of The Year is the first and only truly global awards program of its kind. It celebrates entrepreneurs through regional and national awards programs in more than 145 cities in over 60 countries. National overall winners go on to compete for the EY World Entrepreneur Of The Year™ title. ey.com/us/eoy
Cytomegalovirus PCR from Saliva in Minutes
Using a Digital Microfluidics Disposable Cartridge in a Near-Patient Platform
This study demonstrates feasibility of CMV PCR assays from newborn saliva in a digital microfluidics (DMF) disposable cartridge to enable rapid (4-7 minutes), in-hospital newborn screening to identify newborns with cCMV.
Congenital cytomegalovirus (cCMV) is a leading cause of hearing loss and intellectual disability.
Although the incidence of cCMV is ~1:150, most newborns have no clinically detectable symptoms and, therefore, are not identified at birth. Identification of infants with cCMV can facilitate early detection of CMV-associated hearing loss and provide interventions including antiviral therapy to improve outcomes.
Rapid and point-of-care PCR circumvents the necessity to set up infrastructure to transport saliva samples to a central laboratory and can accelerate adoption of near-patient testing.
Click here to watch an in-depth presentation of how DMF works to rapidly detect CMV.
Jessica’s Story: A Remarkable Fight for Answers with G6PD Deficiency
According to Global Genes, patients living with a rare disease visit, on average, 7 physicians and wait nearly 5 years to reach an accurate diagnosis. This ‘diagnostic odyssey’ from the onset of symptoms to final diagnosis can have devastating physical, emotional, and financial impacts on patients and their family.
In this blog series, we share the story of one family’s journey with glucose-6-phosphate dehydrogenase deficiency (G6PDd). Despite the fact that most people have never heard of it, G6PDd is a relatively common enzyme deficiency, believed to affect about 400 million people worldwide. Yet, a lack of awareness and education about G6PDd means that the diagnostics odyssey for some patients, like Jessica Trivedi, is full of twists and turns.
Jessica’s story
Jessica’s story begins in Chicago, on Super Bowl Sunday, in the middle of a record-breaking snowstorm known as the Blizzard of ’79.
“I was born two weeks late and I started getting sick, my mom said, right away. I was jaundiced and had a red prickly rash,” said Jessica. “I was bottle-fed and eventually taken off formula and put on milk and rice due to feeding issues.”
At age five, Jessica was hospitalized for the first time with asthma. From then until her thirteenth birthday, she was hospitalized at least a dozen more times for various infections and episodes of pneumonia. During this time, Jessica also suffered from pain attacks labeled as abdominal migraines, anemia, and dental issues.
Jessica and her mother
Jessica’s mother took her to see a leading pediatric pulmonologist in Chicago who suspected that her illness may be linked to an enzyme issue, but the doctor could never figure out exactly what it was.
“I was on a lot of different medications and started receiving weekly steroid injections and allergy shots,” Jessica remembers. “I was constantly in this state where I was just not well.”
Despite persistent shortness of breath and chronic pain, Jessica managed through her early teenage years. At 19, she became pregnant with her first child. A year later, her second child was born.
Throughout her daughters’ childhood, Jessica continued to suffer from a variety of conditions that led to hospitalization, including abdominal pain, episodes of pneumonia, gastrointestinal issues, and lung infections. In 2002, Jessica was diagnosed with fibromyalgia.
For the next several years, Jessica’s health continued to decline. She suffered from an illness similar to meningitis, although her spinal tap was normal. She was hospitalized for three weeks with H1N1 and double pneumonia. After recovering from H1N1, Jessica became pregnant with her youngest daughter.
“Immediately after getting pregnant, I started having issues with being diabetic, which I had not had before. I had to take four different types of insulin,” Jessica said. “I continued to have horrible pains and I was hospitalized more than fifteen times during pregnancy because they thought I was going to have a stroke from the pain and doctors couldn’t figure out why.”
In September 2010, despite a difficult pregnancy, Jessica delivered a healthy baby girl. When she returned home with the baby, Jessica started to experience constant dizziness. When the baby was just a few months old, Jessica’s dizziness caused her to fall down the stairs while holding her daughter. The baby wasn’t hurt, but Jessica fractured her C7 and tailbone. It created a downward spiral of pain and surgeries, and Jessica was given some of the strongest pain medications available to cope.
Getting to the answers
In 2017, the Trivedi family decided it was time for a change. They packed up and moved from Chicago to Washington state. This disruption to the family’s medical care team came with a lot of changes. Jessica stopped taking all of her prescribed pain medications. Fewer, more transient healthcare providers in Washington forced Jessica to take an even more active role in medical research and treatment for herself.
Then in October 2019, Jessica underwent a routine colonoscopy. She woke up in the ICU portion of the emergency room. Nurses told her she may have suffered a broken rib because she would not wake up after the procedure and they had to perform CPR. After this, Jessica’s efforts to understand her illness kicked into overdrive.
“Something was changing. Around that time, I had started losing my sight and hearing. I was having cognitive issues and trouble walking. It was all blamed on fibromyalgia. I started thinking ‘I know a lot of people with fibromyalgia, and none of them are having these kinds of issues.’”
In 2020, Jessica underwent her first round of genetic testing. She also applied to be seen at the Mayo Clinic. After several visits to the clinic, doctors suspected a metabolic issue and wanted to have full genome sequencing done. So, they took a sample. Two weeks later, Jessica’s insurance called to explain that genome sequencing would not be covered, and in order to move forward with it the out-of-pocket cost would be almost $18,000.
“So, I was kind of at this place where I thought, well what do I do next? And I came up with my own idea to call my genetic counselor in Washington state. I knew I could afford to pay cash for his panels, and I thought maybe at least if a panel showed I had a neuromuscular disease, that would be enough for my insurance to cover the genome sequencing.”
The second round of genetic testing showed that Jessica had DHTKD1, an ultra-rare gene associated with a neuromuscular disease known as Charcot-Marie-Tooth (CMT) disease. Jessica applied to be seen at Cedars-Sinai’s CMT clinic.
“When I arrived at Cedars-Sinai, doctors told me they didn’t think that I had CMT because I needed two copies of the defective gene and I only have one. But they said they were concerned about two copies of the defective G6PD gene that I have. They asked if anyone had ever spoken to me about it.”
By this point, it had been a year since Jessica received her test results. No one had ever raised concerns about the G6PD variants shown on the report.
“It was the genetic expert at Cedars-Sinai who went the extra mile and researched the G6PD variants finding on the report that I submitted to them, from my genetic counselor in Washington state. She was actually the only person who took the time and did a little research and found that within the Invitae database they are listed as variants of uncertain significance. But they are listed as a positive pathogenic in other databases.”
Just this year, in February 2022, Jessica returned to the Mayo Clinic for further testing. Her G6PD quantitative results were 2.8 U/gHb, confirming that Jessica is G6PD deficient. With Jessica’s diagnosis established, her medical history starts to make much more sense.
“I think back to when I had H1N1. I was treated with medicines like ciprofloxacin and metformin, which are known to cause issues for people with G6PD deficiency.”
Yet, even with a diagnosis confirmed, Jessica has struggled to maintain a good quality of life, especially since the birth of her youngest daughter in 2010. She attends classes at the Mayo Clinic designed to help her learn to manage and live with her symptoms without the need for strong pain medicine, but it is still a constant battle.
The impact of Jessica’s diagnostic odyssey
While Jessica’s story is certainly a unique one, the impact of her diagnostic odyssey is sadly something many rare disease patients find relatable.
“It’s frustrating to think that the answers may have always been there,” Jessica said. “As a young girl, I was on so many medications. There’s a lot of things that happen with that. Kids miss school, you fall behind, it creates financial issues for families. There’s a lifetime of that.”
The physical, emotional, and financial damage is almost unimaginable. Yet, in her time spent reviewing her own medical records, Jessica took note of a few facts that bring some perspective to what she’s been through:
Jessica estimates between 150 and 200 hospitalizations of a week or more in her lifetime due to infections, shortness of breath, abdominal migraines, and pain.
Jessica estimates the number of emergency room visits in her lifetime is more than 750. That’s more than two years of her life spent in the emergency room.
In the past year alone, Jessica has spent nearly $17,000 on plane tickets and hotels to go see doctors in hopes that they will be able to provide answers.
Pain management classes at the Mayo Clinic cost Jessica $10,000 and up per class.
Beyond the numbers, there is an emotional impact that’s difficult for Jessica to revisit.
“I mean honestly most of my daughters’ teenage years I was hospitalized. As a family, we’re just now starting to talk about those things because you don’t realize until it’s done and over what you missed out on.” Fighting back tears, Jessica continues, “But, you know, it’s also them [my daughters] saying ‘no, we’ve been seeing you fight this whole time, looking for answers.’”
G6PD awareness and testing
Throughout Jessica’s journey, there are pivotal moments where her proactive approach and independent medical research undoubtedly brought her closer to a diagnosis. So, what can be done to improve the diagnostic odyssey for people living with G6PD deficiency?
Universal testing is key to provide everyone a healthy start
G6PD deficiency affects about 10 to 14 out of every 100 African-American men in the United States. It is also more common in people from the Mediterranean area, Africa, or Asia. G6PD deficiency is rare in women.
Yet, Jessica’s story is the perfect example to illustrate why testing at-risk populations isn’t enough. By the criteria above, Jessica would not be considered at risk. Yet, one generation back, Jessica’s father is Congolese, Portuguese, and Spanish. Universal testing helps ensure no one falls through the cracks.
“There are nations that test every baby regardless of race, which tells you the testing is available and affordable,” said Jessica. “I think there’s a lot in our medical system that needs change and I think part of it is starting with babies. If, at any point, one of my babies, or any baby in my family had been tested for this it may have been a clue to something that may have lessened the burden.”
In a recent MLO webinar titled Don’t Let G6PD Off the Hook!, Dr. Robert Christensen, a neonatologist, professor of pediatrics at the University of Utah, and G6PD deficiency subject matter expert, expands on the importance of testing for G6PD deficiency in populations where its incidence is thought to be very low.
To address the need for fast, accurate, and affordable testing, Baebies has developed the FINDER® G6PD platform*, which provides G6PD quantitative results in as little as 15 minutes after sample introduction. The CE-marked FINDER G6PD platform is compact and easy to use to enable near-patient testing.
Hope for the future
Jessica’s story is a testament to the power of determination and hope. Jessica sums it up best herself.
“That’s my story for now. There’s a ton of hospitalizations, and surgeries, and near-death experiences that are all wrapped in it. I’m estimating that I’ve had over 100 pneumonias, I’ve had a version of tuberculosis, meningitis. I’ve had H1N1. I’ve had COVID-19. I’ve pretty much had…everything. But I’ve survived it, too. Which I think is amazing, and that’s why I think it’s important to share this story.”
Stay tuned for more
While universal newborn screening in public health labs can provide results, stay tuned for our next blog article about Jessica’s daughters, and how pre-discharge testing could have changed their clinical course for the better.
Jessica’s middle daughter, Sarah, was born early and contracted RSV in the nursery. She would spend the first two years of her life in and out of Children’s Memorial Hospital mimicking a child with cystic fibrosis.
At 18 months old, Jessica’s youngest daughter, Isabelle, was admitted to the hospital after becoming sick with a fever that wouldn’t break. Test results showed that she had a hemoglobin of 3 g/dL, well below the expected 12 g/dL.
*FINDER® is CE-marked and not commercially available in the U.S.
On behalf of the Baebies team, we’d like to extend a heartfelt thank you to Jessica Trivedi and her family for sharing their incredible story. We are honored to partner with them in bringing awareness to G6PD deficiency so that we can help more people everywhere have a healthy start.
This Is Why Pre-discharge Newborn Testing for G6PD Deficiency in the U.S. Matters
Ramesh Vidavalur MD MBA FAAP
Dr. Vidavalur is an Assistant Professor in Clinical Pediatrics at Weill Cornell Medical College and an attending neonatologist at Cayuga Medical Center at Ithaca.
The World Health Organization’s constitution urges every nation to consider the “highest attainable standard of health as a fundamental right of every human being.” Needless to say, the right to health must be accessible to everyone without discrimination on grounds of race, age, ethnicity, or any other status. Universal newborn screening (NBS), where a small blood sample is obtained in the first few days of life and tested for a panel of metabolic and genetic diseases, offers those critical rights to vulnerable infants, helping their parents take advantage of early detection to plan coordinated care and make lifestyle modifications which can reduce morbidity and mortality.
The importance of newborn screening programs
Since its inception five decades ago, many industrialized nations have implemented NBS programs to detect various diseases. In addition to empowering parents about their child’s health, NBS programs provide safe, effective, timely, individualized healthcare to those babies affected by the early-diagnosed conditions. In this context, although individual states have different panels of NBS disorders, the United States has been a front-runner in implementing these programs nationwide. Combining close surveillance of various diseases with emerging needs, individual states consider many factors before including any new condition to the newborn screening panel list. Here are some examples of the factors that can determine the possibility of a new condition being added to the list:
Incidence
Prevalence
Screening test sensitivity and specificity
Associated morbidity and mortality
Effectiveness of early recognition
Available treatments
The debate over G6PDd inclusion in newborn screening programs
One condition that has been debated for inclusion over the past decade in United States is Glucose-6-Phosphate Dehydrogenase deficiency (G6PDd). G6PDd is one of the most common inherited conditions on the planet. Worldwide estimates show that G6PDd affects 400 million people. In the United States, it affects 1 in 10 African American males, compared to 1 in 50 in the general population. The highest frequency is seen in the Southeast Asian population, and is more common in persons of African and Mediterranean descent.
Deficiency of a critical enzyme that protects red blood cells, which are a key component of the oxygen carrying system, causes the rapid breakdown of red blood cells when exposed to specific triggers such as certain foods, medications, and viral or bacterial infections. Currently there are no well-established criteria for starting a G6PDd newborn screening program, and if started, questions remain on what type of testing would need to be used. WHO recommends G6PDd quantitative screening when the population prevalence in males exceeds 3-5% 1.
Some newborns with this condition can show signs or symptoms at birth. Babies with G6PDd can develop prolonged and severe jaundice in the newborn period. The severity of jaundice can range from mildly elevated levels to a level that can cause kernicterus, a condition causing brain damage due to extreme levels of bilirubin. One study6 estimated that almost 20% of the cases of kernicterus also had G6PDd, and that this complication is more common in African American infants.
To combat this significant complication, many nations with a high incidence have instituted newborn screening programs to identify the deficiency early, to establish close surveillance, and to avoid triggering factors. A recent Scandinavian study 2 highlighted the significant role of G6PDd in the causation of high levels of bilirubin; and why we need to be vigilant about this condition in the western world to avoid chronic, rarely lethal, complications. Singapore has been doing this surveillance for the last 55 years by measuring G6PD levels in cord blood and keeping enzyme-deficient infants in the hospital for two weeks. The idea is to reduce the risk of unexpected hemolytic anemia and the resulting rapid rise in bilirubin levels. While implementing these measures raises cost concerns in low-incidence countries, it does show that early recognition of G6PDd reduces morbidity of the disease, at least in the neonatal period. One in four babies in the US Pilot Kernicterus Registry who were re-hospitalized within the first week after birth had G6PDd6. Therefore, to be effective in preventing severe hyperbilirubinemia related complications, G6PD screening results must be available to parents and primary care physicians before discharge from the birth hospital. Now, with cost concerns and uncertainties in the economic and health benefits of NBS, many countries have started to do economic evaluations to study specific NBS conditions to aid in their policy decisions.
Recently, albeit using the limited available data on prevalence, morbidity, health benefits, and costs, we did an empirical economic evaluation of pre-discharge G6PDd universal newborn testing for birth hospitalizations in the United States 3. From our modelling and analysis, out of 3.7 million annual births, we can expect around 78,000 to 82,000 newborns to have G6PDd, with more than two-thirds of them being African American newborns (~52,000 newborns). Considering the current incidence of newborns with bilirubin levels high enough to be at or above the threshold for treatment with a life-saving blood transfusion, we predict that G6PDd is associated with 1,500 of these newborns and can lead to a minimum of 14 (range 9-21) cases of kernicterus.
If the current kernicterus estimates of 1 per 100,000 is to be believed, there would be a minimum of 37 cases annually 4,5. Health Resources and Services Administration estimates the occurrence is between 20-108 cases per annum. Applying previous estimates from the contribution of G6PDd 6 to these overall cases, at least 8 cases could be due to an underlying diagnosis of G6PDd. Although evidence is lacking regarding the impact of screening on the improvement in bilirubin-related outcomes in the newborn period in cases of G6PDd, historical studies looking at effectiveness of universal bilirubin screening before discharge might give some clues. Applying the projected impacts of universal newborn screening on the incidence of kernicterus (45-73% reduction as per HRSA report), we did a cost effectiveness analysis to understand the value of pre-discharge testing for G6PDd. At an assumed 50% effectiveness, the benefit-cost ratios ranged from 0.19 to 3.42. We concluded that at a cost-effectiveness threshold of $100,000 per saved life year, pre-discharge testing might be cost-effective if implemented nationally.
Figure 1
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In another study (unpublished), we looked at the number of estimated G6PDd-deficient newborns in the United States (Figure 1). We concluded that there is disproportionate prevalence depending on race across the states (Figure 2). Our estimates are based on a recent population study that looked at racial and sex differences in prevalence of G6PDd among military recruits 7. Currently only Pennsylvania and Washington D.C. perform genetic testing for G6PDd as part of their NBS program. As a nation, if you take the WHO prevalence threshold rates for starting a program, both the non-Hispanic black male and female populations qualify for universal newborn screening with prevalence rates of 11.2% and 4.7%, respectively. The top five states with the highest expected number of G6PDd infants are California, Texas, New York, Florida and Illinois. (Figure 3)
Although experts agree that kernicterus in developed countries should be considered a “never event,” it continues to occur for different reasons. We emphasize that eliminating one more risk factor, such as G6PDd, could save a considerable amount of long-term neurodevelopmental disabilities in the affected population and their families. This is especially true if it happens in the high-risk, socio-economically disadvantaged population, where there are already considerable healthcare disparities. We conclude that any intervention that is ethically and evidentially justified to reduce the rare burden of hazardous bilirubinemia, and subsequent kernicterus spectrum disorder, based outcomes is a noble one. Pre-discharge testing for G6PDd is such an intervention.
Figure 2
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Figure 3
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References
WHO Working Group Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ. 1989;67:601–11
Kristensen L, Lai AB, Ebbesen F, Donneborg ML. A greater awareness of children with glucose-6-phosphate dehydrogenase deficiency is imperative in western countries. Acta Paediatr. 2021 Jun;110(6):1935-1941. doi: 10.1111/apa.15803. Epub 2021 Feb 15. PMID: 33560519.
Vidavalur R, Bhutani VK. Economic evaluation of point of care universal newborn screening for glucose-6-Phosphate dehydrogenase deficiency in United States. J Matern Fetal Neonatal Med. 2021 Feb 24:1-9. doi: 10.1080/14767058.2021.1892067. Epub ahead of print. PMID: 33627013- https://doi.org/10.1080/14767058.2021.1892067
Johnson L, Bhutani VK, Karp K, Sivieri EM, Shapiro SM. Clinical report from the pilot USA Kernicterus Registry (1992 to 2004). J Perinatol. 2009 Feb;29 Suppl 1:S25-45. doi: 10.1038/jp.2008.211. PMID: 19177057
Lee J, Poitras BT. Prevalence of glucose-6-phosphate dehydrogenase deficiency, U.S. Armed Forces, May 2004-September 2018. MSMR. 2019 Dec;26(12):14-17. PMID: 31860324.
Get to Know the Diaper Bank of North Carolina
Learn more about a Durham NC-based organization working hard to provide a healthy start for local families in need.
A young mother stands in the grocery isle contemplating her options. She has $20 left until next week, which means she can afford diapers or formula, but not both. Sadly, families in our own community and across the world grapple with impossible decisions like this every day. No matter what decision she makes, the stress and guilt will weigh on her, which could negatively affect her health and quality of life.
You may have the good fortune to not know what this experience is like. If so, just think back to the beginning of COVID shutdowns. The toilet paper shortage left us all counting squares and wondering if we’d have enough to last. It was a brief glimpse into everyday life for people in need of basic hygiene supplies, including diapers, period products and adult incontinence supplies.
Baebies team members delivered diaper drive donations to the DBNC
The Diaper Bank of North Carolina (DBNC), located in Durham, NC, is on a mission to improve access to personal hygiene products and other basic necessities to remove barriers to education, employment or personal fulfillment. At Baebies, this mission hits close to home. Since our inception, Baebies has partnered with the DBNC to advance their mission and strengthen our own commitment to delivering a healthy start for everyone, regardless of a person’s background, socio-economic status or geography.
Recently, we sat down with Michelle Old, founder and executive director of the DBNC, for a closer look at how access to basic personal hygiene effects our local community and to understand the impact COVID-19 has had on the DBNC and the families it serves.
Continue reading to explore key takeaways from our conversation with Michelle and learn what you can do to make a positive impact through supporting the DBNC and organizations like it.
Takeaway #1 – The DBNC is the first organization of its kind to publish research on the work they are doing and the impact it has on families and the community partners they distribute through
For each program they provide, the DBNC’s Director of Research collects and publishes research aimed at understanding the benefits of providing access to basic personal hygiene products and helping to inform how best to serve program participants.
For example, research conducted prior to the COVID-19 pandemic found that 78% of families who received diapers from the DBNC were working between one to three jobs and still couldn’t afford basic needs.
“One-hundred percent of the people struggling to put food on the table also struggle to buy diapers and other hygiene products,” said Michelle. “Diapers, period products and incontinence supplies, even toilet paper and cleaning products, are not covered by food stamps because the program is regulated under an agricultural bill.”
Takeaway #2 – Since the beginning of the pandemic, DBNC staff saw a staggering 400% increase in diaper requests
As food and housing insecurity for families has risen during the COVID-19 pandemic, diaper bank staff have also experienced a sharp increase in requests: 400% for diapers; 800% for period products; and a 2,000% increase for adult incontinence products.
“Often, there is a misconception of poverty,” Michelle pointed out. “Some people envision unmotivated, uncaring, or lazy individuals. In reality, most work incredibly hard to provide for their children, carry more than one job, yet still have to choose between necessities.”
Takeaway #3 – The increasing need, combined with decreasing donations has made providing diapers and other supplies an uphill battle
Fewer donations, volunteers, and diaper drives, mixed with more people out of work, more requests, and higher prices are just some of the key challenges the DBNC has faced since early 2020. Prior to that, 400 to 600 volunteers per week helped pack diapers. Most diapers and other products were collected in corporate and organizational drives.
“In a typical year, we would receive 400,000 to 500,000 diapers from drives, then everything just stopped,” said Michelle.
To fill the gap, the DBNC is now purchasing more diapers, but Michelle worries that this model is not sustainable long term.
“During the shutdowns, we had a staff of four handling 400,000 diapers per month. All their homes became storage and wrapping locations,” said Michelle. “I’ve never been prouder to work with this group of people. We did not miss one order. Some people turned their homes into diaper banks. I’m humbled and proud.”
Getting involved to give families in your community a healthy start
Access to essential dignity products removes barriers to simple, everyday activities. Think about the positive impact of basic hygiene and what it allows you to do: pursue an education, work, enjoy recreation or time with friends. Here are three ways organizations and community members can get involved to support the DBNC and organizations like it in providing access to hygiene products:
Shine a light on the issue – At the state level, through partnerships with coalitions like NC STOMP, the DBNC advocates for policy reform so that diapers and period products are included in the definition of and provision for the basic human needs of families. At the local level, you can contribute to this effort simply by discussing the issue. Enhancing community understanding is important to highlight how access to basic personal hygiene impacts physical and mental health, education, employability and quality of life. Raising awareness that these needs are not being met for families living with poverty is also key to driving change.
Become a volunteer – The DBNC could benefit from the support of at least 20 volunteers per week to assist with wrapping diapers and more. For adult volunteer groups, consider a Wine and Wrap party where friends can gather, wrap diapers and enjoy time together.
Organize a diaper drive – As businesses and schools begin to participate in-person activities such as community outreach again, the DBNC is beginning to welcome these groups back. Virtual diaper drives are also an option.
Together, we can provide the support that families in our community need to access essential hygiene products. To learn more about the Diaper Bank of North Carolina and explore ways to get involved, visit ncdiaperbank.org.
Internship Spotlight – Sofia Hornstein and Shreyas Bhat
Meet Sofia Hornstein, senior and Mechanical Engineering major at Duke University and Shreyas Bhat, Master’s degree candidate in Computer Engineering at Virginia Tech. They’re two of our many talented interns we had the pleasure of employing this summer.
“The best part of this job was seeing so many engineers in action, seeing how everyone jumps in to collaborate,” Sofia shared. She valued the ability to see “engineering at work in industry – how a product goes from R&D to manufacturing,” and added it was especially rewarding to work on “something that matters, that is valuable to people.”
Shreyas, who works in the Technology Development group, has a similar view saying “it matters to me that my work has a positive impact. Solving human problems is good science and I never want to lose sight of that.” He also added: “There is a lot more at stake. It HAS to be accurate.” Shreyas spent his internship optimizing and characterizing heating systems, which are critical components for PCR assays. Dr. Rainer Ng, head of the Technology Development group at Baebies, has been pleased with Shreyas’ contributions. “Shreyas was able leverage his background in image processing and software engineering to start collecting meaningful data on his project almost immediately.”
Sofia’s work was supervised by Dr. Sebastian Mestril, Senior Production Engineer. “Sofia was very instrumental (pun intended) in helping keep the instrument production line moving along. We were very pleased with how much progress she made developing a proof-of-concept prototype automating the FINDER detector alignment process.” Senior Production Engineer Knute Svenson commented that Sofia was very curious about all aspects of the instrument production process at Baebies and asked all the right questions. “As an Operations Intern, she was able to work closely with members of the R&D team to design and implement the prototype automation fixture and made enough progress to show that the project is worth continuing in the future.”
The Baebies team wishes Sofia and Shreyas all the best as they complete their final year of studies.
Baebies Awarded $2.7 Million NIH Grant for Rapid, Near-patient Heparin Monitoring Requiring Low Sample Volume
Minimizing Blood Loss from Testing of Neonatal and Pediatric Patients
Durham, N.C. – (May 19, 2021) – Baebies, a growth-stage company developing innovative products to enable early disease detection and multifunctional diagnostics for syndromic testing, was recently awarded $2.7 million in a Phase IIB SBIR grant from the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH). This award supports validation, clinical evaluation, and FDA submission of a rapid test panel for near-patient heparin monitoring. This project is a continuation of a long-standing collaboration with Boston Children’s Hospital to develop a low blood volume platform for heparin monitoring particularly for neonates and pediatric patients.
Heparin is an anticoagulant prescribed to patients at high risk for thrombosis or who are being treated for conditions requiring anti-coagulant therapy such as those with congenital heart defects or other hospitalized patients. A patient who undergoes cardiac surgery will invariably be put on heparin to prevent blood clots. The exact dosage of heparin is critical and should be closely monitored in order to avoid either excessive bleeding or clotting.
“Activated partial thromboplastin time (aPTT) and anti-Factor Xa are the most common tests to monitor and adjust dosage of heparin in pediatric patients requiring anticoagulation, but current practice requires frequent blood draws requiring large volumes that can lead to iatrogenic anemia and potentially further blood transfusions,” said Dr. Sitaram Emani, pediatric cardiac surgeon Director of Cardiovascular Program Coagulation Laboratory, and Surgical Director of Adult Congenital Heart Program at Boston Children’s Hospital. “Our work with Baebies minimizes blood loss due to heparin monitoring especially in our smaller patients who have a fraction of the blood volume of adults. Additionally, obtaining results in a near-patient platform within minutes allows timely adjustments of heparin dosage.”
Dr. Emani recently presented data from the feasibility study at the premier pediatric conference 2021 PAS Annual Meeting being held virtually now through June. Baebies’ multifunctional testing platform, FINDER, has been recently featured in 4 additional presentations at PAS demonstrating results from chemistry, immunoassays, molecular, and hematology assays. Combined with the successfully completed Phase I and II projects, funding through this Phase IIB mechanism will complete the product development cycle for Baebies’ FINDER heparin monitoring platform, from concept to product launch. Baebies has a highly successful track record of leveraging NIH funding in launching multiple commercial products as featured recently by NIH in their SBIR Success Stories.
“This work fills a major gap for the diagnostic testing of newborns,” said Ronald Warren, Ph.D., an NHLBI program officer for the project and a member of the Molecular, Cellular and Systems Blood Science Branch in NHLBI’s Division of Blood Diseases and Resources. “Most FDA diagnostic testing is geared toward adults and involves taking large blood samples. If microfluidics is widely commercialized, it could have a huge impact on the treatment of newborns.”
Baebies – guided by the vision that “everyone deserves a healthy start” – develops and commercializes products and services that enable early disease detection and comprehensive diagnosis. Baebies has shipped over 10 million tests. Baebies’ SEEKER® is an FDA-authorized and CE-marked high throughput newborn screening platform. FINDER®, a CE-marked flexible, single sample testing platform for G6PD deficiency, is under FDA 510(k) review and is currently not commercially available in the U.S. Our mission is to save lives and make lives better for all by bringing new technologies, new tests and new hope to children, parents and healthcare professionals worldwide. To further our mission, Baebies also provides expanded newborn screening services from our CLIA-certified laboratory. Baebies is headquartered in Durham, North Carolina. For more information, visit baebies.com and follow us on LinkedIn, Twitter and YouTube.
Baebies Awarded up to $11.6 Million from CARB-X for the Development of a Diagnostic Platform with Rapid Results for Sepsis
Durham, N.C. – (April 20, 2021) – Baebies, a growth-stage company developing innovative products to enable early disease detection and comprehensive diagnosis, announced today that CARB-X has awarded the company up to $11.6 million in non-dilutive funding. This funding will support the development of a near-patient and rapid diagnostic platform for sepsis – specially focused on addressing the unique needs of neonatal and pediatric populations.
The CARB-X award consists of $3.9 million in initial funding with up to $7.7 million of milestone-based funding. CARB-X, a global non-profit partnership, provides funding and support for projects that target drug-resistant bacteria deemed Serious or Urgent on the U.S. Centers for Disease Control and Prevention (CDC) Antibiotic Resistant Threats list or Critical or High on the World Health Organization’s Priority Bacterial Pathogens list.
Sepsis is the body’s overwhelming and life-threatening response to infection caused by bacteria, including drug-resistant bacteria, which can lead to tissue damage, organ failure, and death. Sepsis leads to approximately one million newborn deaths per year globally.
“There is a critical need for a rapid and easy-to-use diagnostic platform for bacteremia – especially for the newborn population given the low circulating blood volume available for testing. Through this CARB-X partnership, the development of blood culture and identification of bacteria on our FINDER® platform not only enables clinicians to receive results fast, but also conserves the limited blood volume by maximizing the diagnostic yield,” said Vamsee Pamula, Co-Founder and President.
Powered by digital microfluidics technology, Baebies’ FINDER is a fully-automated, single sample testing platform that will be further enhanced to perform blood culture, identification (ID), and antimicrobial susceptibility testing (AST). By integrating blood culture with the microfluidic cartridge, users will be provided information on ID/AST and gram status in real time without the need for any hands-on intervention. In addition to blood culture, the platform will also be able to measure expression levels of various genes from just 125 microliters of whole blood to distinguish between different causes of inflammatory responses.
“Minimizing sample volume is crucial when it comes to testing infants,” added Pamula. “The extra ‘e’ in Baebies demonstrates our commitment to ensure a healthy start for every child, and sepsis is a fatal condition affecting neonates and children everywhere. We are looking forward to applying our technology towards a solution for neonatal and pediatric sepsis.”
“Our FINDER platform is highly versatile covering molecular, immunoassay, hematology, and chemistry assays. Non-dilutive, R&D funding from CARB-X allows expansion of FINDER’s capabilities to blood culture, bringing sophisticated testing to millions of newborns and children in an easy-to-use and rapid format,” said Richard West, Co-Founder and Chief Executive Officer of Baebies.
The technologies and capabilities onboard FINDER reduce time-to-result and enable clinicians to make faster, smarter decisions – improving patient outcomes and encouraging antibiotic stewardship.
About Baebies
Baebies – guided by the vision that “everyone deserves a healthy start” – develops and commercializes products and services that enable early disease detection and comprehensive diagnosis. Baebies has shipped over 10 million tests. Baebies’ SEEKER® is an FDA-authorized and CE-marked high throughput newborn screening platform. FINDER®, a CE-marked flexible, single sample testing platform for G6PD deficiency, is under FDA 510(k) review and is currently not commercially available in the U.S. Our mission is to save lives and make lives better for all by bringing new technologies, new tests and new hope to children, parents and healthcare professionals worldwide. To further our mission, Baebies also provides expanded newborn screening services from our CLIA-certified laboratory. Baebies is headquartered in Durham, North Carolina. For more information, visit baebies.com and follow us on LinkedIn, Twitter and YouTube.
About CARB-X
CARB-X (Combating Antibiotic-Resistant Bacteria Biopharmaceutical Accelerator) is a global non-profit partnership dedicated to supporting early development antibacterial R&D to address the rising threat of drug-resistant bacteria. CARB-X is led by Boston University and funding is provided by the Biomedical Advanced Research and Development Authority (BARDA), part of the Office of the Assistant Secretary for Preparedness and Response (ASPR) in the US Department of Health and Human Services; the Wellcome Trust, a global charity based in the UK working to improve health globally; Germany’s Federal Ministry of Education and Research (BMBF); the UK Department of Health and Social Care’s Global Antimicrobial Resistance Innovation Fund (GAMRIF) funded by the UK Government Department of Health and Social Care (DHSC); the Bill & Melinda Gates Foundation, and with in-kind support from National Institute of Allergy and Infectious Diseases (NIAID), part of the US National Institutes of Health (NIH) within the US Department of Health and Human Services. CARB-X is investing up to US$480 million from 2016-2022 to support innovative therapeutics, preventatives and rapid diagnostics. CARB-X funds only projects that target drug-resistant bacteria highlighted on the CDC’s Antibiotic Resistant Threats list, or the Priority Bacterial Pathogens list published by the WHO, with a priority on those pathogens deemed Serious or Urgent on the CDC list or Critical or High on the WHO list. CARB-X is headquartered at Boston University School of Law. https://carb-x.org/. Follow us on Twitter @CARB_X
Baebies’ FINDER named Medical Design Excellence Awards Finalist
Since MDEA’s inception in 1998, the mission of the awards has been to recognize significant achievements in medical product design and engineering that improve the quality of healthcare delivery and accessibility. Each year, a panel of jurors comprised of designers, engineers, and clinicians awards bronze, silver, gold, and best-in-show honors to the most innovative products on the market in eleven categories. MDEA takes a holistic view at the applicants including product design, business case, and healthcare benefit.
Baebies’ FINDER is among the six finalists in the “Testing and Diagnostic Products and Systems” category for 2021. Past winners in this category include VENTANA DP 200 (Roche Tissue Diagnostics), Panther Fusion system (Hologic, Inc.), FreeStyle Libre (Abbott Laboratories), and ePlex (GenMark Diagnostics, Inc.). Winners have ranged from startup companies to established global corporations. Baebies’ SEEKER, newborn screening platform powered by digital microfluidics, was a finalist as well in 2018.
The winners of the 2021 awards will be announced on May 13 during the Medtech Design Summit 2021. Visit MD+DI online to view finalists in all categories and to vote for your choice for 2021 MD+DI Readers’ Choice Winner.
Diagnostic Testing Platform
Baebies has a robust development pipeline and recently won the prestigious 2020 AACC Disruptive Technology Award for FINDER in a tight competition emerging as the next innovative testing solution that will transform patient care. Versions of the platform include:
FINDER
Currently under FDA 510(k) review, FINDER tests for glucose-6-phosphate dehydrogenase (G6PD) deficiency, a genetic defect leading to anemia and severe jaundice. FINDER can efficiently test for G6PD deficiency from low blood volume (50 µL) with a turn-around time of approximately 15 minutes after sample introduction.
Rapid RT-PCR Testing with Digital Microfluidics – Webinar
This 12-minute presentation titled “Rapid RT-PCR Testing through the use of Digital Microfluidics” was given by Vamsee Pamula, Co-Founder & President of Baebies, in an online forum hosted by Medical Lab Observer (MLO).
What to expect:
Introduction to Baebies mission, company history, and core technology
How digital microfluidics (DMF) enables ultra-rapid thermocycling for PCR (at 2:42)
Meet Baebies’ SEEKER – 10 million tests shipped to date! (at 3:47)
Why maximizing diagnostic yield is important for newborns (at 4:56)
Meet Baebies’ FINDER – multifunctional diagnostics platform (at 6:13)
Video of DMF cartridge protocol for rapid RT-PCR testing (at 8:26)
Robust development pipeline – molecular, chemistry, immunoassay, hematology (at 10:38)
Baebies Announces CE Mark for FINDER, an Innovative Near-Patient Testing Platform for Glucose-6-Phosphate Dehydrogenase
Baebies is pleased to announce that FINDERTM, a near-patient testing platform, now has CE Mark as an In Vitro Diagnostic device (IVD) and is commercially available in Europe and other countries that recognize CE Mark. The CE-Marked platform includes an instrument and a cartridge, which tests for Glucose-6-Phosphate Dehydrogenase (G6PD) from low blood volume, a single drop of whole blood (50 μL), with a turn-around time of approximately 15 minutes after sample introduction.
G6PD deficiency is the most common enzyme deficiency worldwide, affecting approximately 400 million people. It can cause a spectrum of diseases including neonatal hyperbilirubinemia (HBR), commonly known as jaundice, acute hemolysis, and chronic hemolysis. “The ability to perform G6PD testing with a near-patient device would have a major impact on our ability to manage hyperbilirubinemia,” says Vinod Bhutani, MD, Professor of Pediatrics and Neonatology, Stanford University. “This would be especially valuable in areas of the world with high percentages of African, Asian, Mediterranean or Middle-Eastern descent, to provide a comprehensive profile of treatment and avoidance of stressors.”
To aid healthcare professionals in their clinical care for critically ill newborns and children undergoing intensive care, there is a significant need for tests requiring low blood volume. FINDER is specifically designed to address this growing need. FINDER can be used in various distributed settings including hospital nurseries, laboratories, neonatal intensive care units and birthing centers. The innovative, pioneering platform features:
Digital microfluidic technology which minimizes sample and reagent volumes
Small footprint at just 8 inches wide with a tablet for user interface
Simple workflow with only one user step to load sample
All necessary reagents onboard the cartridge, including for sample preparation
“As a company focused on newborn screening and pediatric testing, FINDER’s CE Mark allows Baebies to continue to work towards our mission, that everyone deserves a healthy start, by expanding access of testing to more babies around the world,” says Richard West, Co-Founder and Chief Executive Officer of Baebies.
FINDER is currently undergoing a clinical trial in the U.S. for Food and Drug Administration (FDA) clearance of the near-patient platform and the test panel that includes testing of G6PD enzyme activity. Baebies plans to complete the FINDER clinical trial in early 2020 for FDA 510(k) submission. Baebies has a robust development pipeline of test panels for various conditions requiring low blood volume to maximize diagnostic yield in neonatal and pediatric patients.
About Baebies
Baebies – guided by the vision that “everyone deserves a healthy start” – develops and commercializes products and services that enable early disease detection and comprehensive diagnosis for children. Baebies’ products include SEEKER®, an FDA-authorized and CE-marked high throughput newborn screening platform, and FINDERTM, a CE-marked low volume pediatric testing platform, currently not commercially available in the U.S. Our mission is to save lives and make lives better for all children by bringing new technologies, new tests and new hope to parents and healthcare professionals worldwide. To further our mission, Baebies also provides expanded newborn screening services from its CLIA-certified laboratory. Baebies is headquartered in Durham, North Carolina. For more information visit baebies.com and follow us on LinkedIn, Twitter and YouTube.
We express our deepest gratitude to the laboratory professionals in public health and medical labs during a tumultuous year with the raging pandemic.
Newborn screening did not miss a beat and, of course, hundreds of millions of COVID-19 tests were performed in the past few months. These unsung lab professionals have been quietly working behind the scenes, all the while making a tremendous positive impact. We recently posted this poll to the newborn screening (NBS) community:
In one word, how would you describe your newborn screening program in 2020?
Tenacious. Resilient. Dynamic.Family. These are just some of the words submitted by NBS programs around the world.
And they are words we use to describe our team at Baebies as well. We are grateful to have multiple reasons to celebrate as we reflect on the year:
Winner of the 2020 AACC Disruptive Technology Award
Baebies won the AACC Disruptive Technology Award which “recognizes innovative testing solutions that improve patient care through diagnostic performance or access to high quality testing”. We were selected by a panel of expert judges at the 2020 American Association for Clinical Chemistry (AACC) Annual Scientific Meeting and Clinical Lab Expo following a presentation on innovative applications of our digital microfluidics technology. Baebies was also selected as the Audience Choice Award winner, determined by audience voting.
Submission of 510(k) to U.S. FDA for Glucose-6-Phosphate Dehydrogenase on FINDER
Nearly 10% of all babies born are admitted to the neonatal intensive care unit, where they are evaluated using tests intended for adults that require large sample volumes. One of these tests is for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency. Newborns with undetected G6PD deficiency are at risk for extreme hyperbilirubinemia. (For more, see this PAS summer series webinar: Evaluation of a near-patient diagnostic platform for G6PD)
Currently under review by the U.S. Food and Drug Administration, FINDER tests for G6PD from low blood volume (50 µL) with a turn-around time of approximately 15 minutes after sample introduction.
Digital microfluidics enables testing with “micro” volumes of sample and reagent with the capability to support multifunctional test methods – including molecular, immunoassay, and chemistry.
9 Million Newborn Screening Tests Shipped and New Assays on SEEKER
Every test shipped is a chance to save a life. FDA-authorized newborn screening platform SEEKER is used by laboratory professionals to test 1 in every 7 babies born in the U.S. for lysosomal storage disorders (LSDs). Screening babies for these diseases at birth enables early diagnosis and can lead to earlier initiation of treatment – dramatically impacting the outcome for the baby. We’ve been working with NBS programs for over 7 years on LSD screening, including providing second tier DNA sequencing services in our CLIA laboratory. (See NBS for LSDs webinar for more.)
This year we contributed to multiple peer-reviewed publications sharing the impact of digital microfluidics technology on NBS:
Our team recently celebrated – at a social distance – over 9 million newborn screening tests shipped since we started Baebies. We are proud to be part of the NBS community. (Read Hari’s NBS story.)
Poised for Growth in 2021
As we approach the end of 2020, the world is filled with heroism like never before. Heroism is defined in part by special achievement, especially in the face of difficult circumstances. It is performing great service to your fellow humans despite the risks.
To the Baebies team of over 90 employees, thank you for your heroism. You have embodied each one of our core values – mission-focused, high-velocity, customer-centric, and innovative. While physically apart in 2020, we came together to accomplish major milestones – paving the way for an exciting new year.
2021 will be transformational for Baebies. We’ll be building our commercial organization in the U.S. to launch FINDER in the hospital segment while we continue to grow our newborn screening business. We’ll also be expanding our operations organization – including building a new facility – to prepare for rapid growth. Our product development, technology development, and regulatory teams will be very busy as well bringing new tests to market.
Richard West and Vamsee Pamula
Founders of Baebies
PCR Testing in Minutes with Digital Microfluidics
Posted 2/9/2021 (Updated 4/5/2021)
According to the CDC, the “gold standard” for SARS-CoV-2 testing is reverse transcription polymerase chain reaction (or RT-PCR). The PCR method makes many copies of a small strand of DNA by thermal cycling: DNA double strands are denatured at a high temperature (typically 95ºC) followed by binding of primers to the target DNA of interest and extension of the DNA strands at a lower temperature (typically 60-65ºC). This process is repeated to exponentially make millions of copies of DNA enabling optical detection via fluorescence.
How Digital Microfluidics Enables Ultra-rapid PCR Results
Digital microfluidics (DMF) technology miniaturizes RT-PCR protocols using standard laboratory chemistries – but fully automated. Low reaction volumes enable rapid thermal cycling due to low thermal mass which helps speed up PCR. Our DMF platform has demonstrated PCR within 5 minutes through optimization of the following factors:
Low Droplet Volume
Digital microfluidics programmably manipulates discrete microliter-sized droplets of reagents and samples enabling ultra-rapid heating and cooling, which is essential for PCR assays. In DMF, PCR is performed by shuttling tiny droplets of reaction mixtures between two heat zones that are maintained at ~95ºC and ~60ºC as required by the PCR assays.
This is essentially mimicking the original PCR method as invented by Dr. Mullis, where the reaction mixture was transported between two heat baths. Microliter-sized droplets have low thermal mass and can be heated and cooled with no lag time; this can be performed at a very rapid rate if the heaters and sensors are in immediate contact with the droplets.
Built-in Heaters and Sensors on Cartridge
Digital microfluidic protocols for PCR have the heaters and sensors embedded within the disposable cartridge abutting the droplets to further allow rapid thermal cycling.
Generally with other PCR platforms, heating and cooling are performed conductively with a heat block or convectively adding additional thermal mass which slows down the assay considerably in comparison to DMF. Further in DMF cartridges, heating zones are localized just to the microliter droplet further reducing the thermal mass.
Easy Sample Preparation and Microliter-sized Reagents
In conjunction with ultra-rapid PCR, sample prep needs to be fast, too. Typically, respiratory and other physiological specimens require sample preparation to lyse the pathogens to release the RNA. This is further captured onto a solid phase such as magnetic beads.
Digital microfluidics allows for automatic and rapid sample preparation methods and enables concentration of all the RNA – captured on the magnetic beads, into a single droplet – which can then be eluted off into another droplet to perform RT-PCR.
DMF requires only miniscule amounts of reagents and, therefore, supply scarcities would only have a muted impact on the number of tests that could be performed. This is particularly beneficial during the current COVID-19 pandemic as reagent supplies are unpredictable.
Feasibility of PCR Results in 5 Minutes using DMF
Baebies scientists have published several peer-reviewed publications on PCR using DMF technology. In this 2020 peer-reviewed publication in Diagnostics, PCR for congenital cytomegalovirus (cCMV) infection was performed on a DMF platform and cartridge within 5 minutes.
Table: CMV PCR assay using a prototype DMFcartridge. Successful amplification of CMV (10, 1,500, and 225,000 copies/µL) is achieved within 5 minutes. FU: fluorescence units.
Baebies Wins the 2020 AACC Disruptive Technology Award
Durham, N.C. – (December 14, 2020) – This evening Baebies was selected as the winner of the AACC Disruptive Technology Award by a panel of expert judges at the 2020 American Association for Clinical Chemistry (AACC) Annual Scientific Meeting and Clinical Lab Expo. The program included presentations from Baebies and two other esteemed finalists, ALCEDIAG and Sherlock Biosciences.
During the virtual competition, Baebies presented FINDER®, a near-patient testing platform featuring a toaster-sized instrument and disposable cartridge. Powered by digital microfluidics technology, Baebies FINDER tests for diseases from low sample volume with a turn-around time of approximately 15 minutes after sample introduction.
“Thanks to AACC and the judges for this important recognition. We are thrilled to have had this opportunity to present our digital microfluidics technology on a national stage,” said Richard West, co-founder and Chief Executive Officer of Baebies. “I am proud of our team – which includes many of the inventors of this technology.”
Digital microfluidics (DMF) is a method to programmably manipulate separate droplets of liquid by electrical control of surface tension, or electrowetting, to perform bioassay protocols. DMF enables quick precision handling of discrete droplets on FINDER’s disposable cartridge – which is completely self-contained with all reagents on board. Baebies’ technology is protected by more than a hundred patents.
Digital microfluidics supports multifunctional assay methods – including molecular, immunoassay, and chemistry – on the same cartridge. FINDER has a robust test development pipeline. FINDER G6PD which tests for Glucose-6-Phosphate Dehydrogenase (G6PD) from low blood volume (50 µL) is currently under review by the U.S. Food and Drug Administration.
Due to the current need for rapid diagnostics for SARS-CoV-2, a test for the detection of COVID-19 is being developed on FINDER 1.5 to perform rapid RT-PCR to generate results in as little as 14 minutes.
“Every test is a chance to save a life,” said Vamsee Pamula, PhD, co-founder and President of Baebies. “While we will continue to give babies a healthy start in newborn screening with FDA-authorized SEEKER®, we can now expand to save even more lives with FINDER.”
FINDER received CE Mark in December 2019 as an In Vitro Diagnostic device (IVD) and is commercially available in Europe and other countries that recognize CE Mark. FINDER is not currently available for sale in the United States. FINDER 1.5 is currently under development and is not available for sale in any country or territory.
The AACC Disruptive Technology Award “recognizes innovative testing solutions that improve patient care through diagnostic performance or access to high quality testing”. As the winner, Baebies will be featured in a virtual booth at the AACC Annual Scientific Meeting to connect with registered attendees.
5 Things to Know about Testing with Digital Microfluidics
This innovative technology for liquid handling – with no fixed channels or pumps or valves, and fully automated in software – performs tests on a disposable cartridge. Droplets are discretely transported within a network of electrodes on the cartridge by strategically applying or removing voltage from adjacent electrodes.
The following video shows simple droplet operations enabling a digital microfluidic paradigm including transportation, splitting, merging, and dispensing from a larger reservoir:
Digital microfluidics builds complex systems on the foundation of these simple droplet operations. All of these operations can be performed with just a circuit board controlling the voltages applied to the electrodes. Building on these basic operations, complex droplet operations can be performed including mixing, diluting, washing, and thermal cycling. These complex operations can then be employed in a PCR assay in a testing platform that is designed for a specific use case.
Digital microfluidics brings unique benefits to diagnostic testing and newborn screening. Here are 5 things you should know about testing with DMF:
Digital microfluidics is performed using “micro” volumes of sample and reagent. For example, diagnostic tests require just 50 microliters of blood from the patient (about the size of a raindrop), which is especially precious for tiny babies in the neonatal intensive care units. Each test is performed using only 1 microliter out of the 50 microliters, leaving room for multiple tests. DMF enables medical professionals to maximize the diagnostic yield from a drop of blood.
DMF manipulates sub-microliter size droplets, which enable fast kinetics. These droplets are also manipulated rapidly in a fully-automated system which enable fast results. Additionally, multiple assay steps are performed in parallel speeding up the time to complete the assays.
Programmable control of liquids allows multiple assays to be performed on the same cartridge simultaneously. This video shows a digital microfluidics cartridge performing 4 enzymatic assays; the droplets travel in crisscrossing pathways without affecting the enzymatic activity between droplets.
Digital microfluidics has the capability to support multifunctional test methods – including molecular, immunoassay, and chemistry. Each bioassay can be spatially and spectrally multiplexed to perform simultaneously on a single sample and using the same cartridge.
Testing platforms powered by digital microfluidics reduce reagent costs since they only require tiny volumes. DMF instruments do not have mechanical pumps or valves for liquid handling and are, therefore, small and portable.
Baebies scientists have published over 100 peer-reviewed publications and conference presentations on our DMF work outlining the core technology, assays, and clinical studies. Digital microfluidics technology powers our innovative diagnostic platform FINDER.
A Novel Point-of-care Device for Measuring Glucose-6-phosphate Dehydrogenase Enzyme Deficiency
Extreme hyperbilirubinemia can cause bilirubin neurotoxicity. Infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency can develop hemolysis and thus are at high risk. We evaluated a device that quantitatively measures G6PD activity kinetically using digital microfluidics (DMF).
Intra- and inter-instrument and -day imprecision (CVs) were first assessed. G6PD activity in 86 samples was then measured and compared between DMF and 2 reference methods. Overall DMF reproducibility was 3.8% over 5 days by 2 operators on 2 instruments. Mean intra- and inter-instrument variabilities were 3.6% and 3.9%, respectively (n = 28), with a user variability of 4.3%. Mean G6PD activity was 6.40±4.62 and 6.37±4.62 U/g hemoglobin for DMF and Reference Methods 1 (n = 46) and 12.15±3.86 and 11.48±1.55 for DMF and 2 (n = 40), respectively, and strongly correlated (r = 0.95 and 0.95) with mean biases of +0.04±2.90 and +0.67±1.55 for methods 1 and 2, respectively. The novel device could be used for early newborn G6PD screening
Authors: Ronald J. Wong, Cynthia Montiel, Megana Kunda, David K. Stevenson, and Vinod K. Bhutani
Baebies Selected as Finalist for the 2020 AACC Disruptive Technology Award
Durham, N.C. – (October 15, 2020) – Baebies has been named a finalist for the 2020 American Association for Clinical Chemistry’s (AACC) Disruptive Technology Award for FINDER®, a near-patient testing platform. As a growth-stage company developing diagnostic products to provide a healthy start for children everywhere, Baebies FINDER tests for diseases from low blood volume (50 µL) with a turn-around time of approximately 15 minutes after sample introduction.
Nearly 10% of all babies born are admitted to the NICU, where they are evaluated using tests intended for adults, requiring large sample volumes. Baebies addresses unmet needs in neonatal diagnostics with panels of tests using low sample volume.
“We are honored to be selected as a finalist for this award in just its third year of existence – and our first year applying,” said Richard West, co-founder and Chief Executive Officer of Baebies. “Thanks to AACC for moving the conference to a virtual format so that the community can still convene, collaborate and share innovative technologies that are transforming diagnostics and healthcare for all.”
“Our mission is to ensure that every baby gets a healthy start by bringing innovative and cost-effective products to the market. Our first platform SEEKER® is used in many newborn screening laboratories and already is providing millions of chances every year for a healthy start for babies. We developed FINDER around the unique diagnostic testing needs of babies, particularly focusing on maximizing the diagnostic yield from the limited blood volume, and this recognition bodes well for a disruption in neonatal testing,” added Vamsee Pamula, PhD, co-founder and President of Baebies.
The AACC Disruptive Technology Award “recognizes innovative testing solutions that improve patient care through diagnostic performance or access to high quality testing”. Baebies joins ALCEDIAG and Sherlock Biosciences as the only finalists for the 2020 award. As a finalist, Baebies will present their technology on December 14 as part of this year’s virtual AACC Annual Scientific Meeting (December 13-17). A winner will be selected at the event following an evaluation by a team of expert judges.
FINDER received CE Mark in December 2019 as an In Vitro Diagnostic device (IVD) and is commercially available in Europe and other countries that recognize CE Mark. FINDER is not currently available for sale in the United States.
Evaluation of a near-patient diagnostic platform for G6PD – Webinar
This presentation titled “Evaluation of a near-patient diagnostic platform for G6PD” was given by Dr. Michael Cotten in a live stream on July 24, 2020, hosted by the Pediatric Academic Societies 2020 PAS Summer Webinar Series – Neonatal Hematology & Bilirubin Metabolism.
Funding for this project: NIH/NICHD Small Business Innovation Research (SBIR) Phase IIB: R44HD072853-06
This presentation is based on the abstract that was accepted for an oral talk at PAS 2020:
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited enzymopathy which can cause antenatal, perinatal and later disease. Neonates with undetected G6PD deficiency are at risk for extreme hyperbilirubinemia. The American Academy of Pediatrics recommends G6PD testing for jaundiced newborns under phototherapy whose family history or ethnic or geographic origin suggest likelihood of G6PD deficiency, or whose response to phototherapy is poor. Turn-around time (TAT) for send-out G6PD testing is 2-3 days and requires ≥ 1mL whole blood. Manual, qualitative assays are used for neonatal testing in some centers. An automated, quantitative, low blood volume platform for G6PD testing could facilitate G6PD deficiency detection.
Objective: Evaluate a G6PD testing platform that uses 50 µL whole blood samples with TAT of 15 minutes.
Design/Methods: Three evaluations were done: #1) new platform compared with current standard; #2) finger stick compared with venipuncture samples on the new platform, and #3) precision tests of samples across 3 clinical sites on the new platform.
For #1 and #2, 50 adults provided venipuncture (Li Heparin 2mL BD Vacutainer®) and finger stick capillary (Li Heparin Sarstedt 100µL Microvette®) whole blood samples. To cover the testing range in #1, 1 affected venous sample (~3 U/gHb) from BioIVT (Westbury, NY) was used to make 10 contrived samples. In #1, duplicate samples were run on the gold standard Pointe Scientific (PS, Canton, MI) G6PD assay with hemoglobin concentration normalization on the Roche Cobas Mira Plus (Roche Diagnostics, Switzerland) and 50 µL samples were run on the Baebies FINDER G6PD assay (R44HD072853).
For #2, 50 µL venipuncture and capillary samples were compared on FINDER.
For #3, precision was assessed using venipuncture blood procured from BioIVT, sent to 3 sites every day for 3 days, and tested on FINDER (n=5 per day) by multiple users.
Results: Time to result on FINDER was ~15 minutes and ~1h on standard. For evaluation #1, R-value = 0.841 between FINDER and standard. For #2, venipuncture and capillary samples’ FINDER values had a mean difference of 5.6%, which is within the reproducibility range of 6.2% between-sites variation observed in evaluation #3.
Conclusion(s): Using 50 µL samples, FINDER G6PD results were available within 15 minutes, correlated well with current methodology, had similar results for capillary and venous samples, and between-site and user results were similar. These capabilities open the possibility for pre-discharge G6PD testing.
AUTHORS/INSTITUTIONS: C.M. Cotten, K.A. Fisher, Pediatrics, Duke University, Durham, North Carolina; S.D. Kicklighter, WakeMed Medical Center, Raleigh, North Carolina; M. Nock, Pediatrics, Neonatology, Rainbow Babies and Children’s Hospital, Cleveland, Ohio; R. Sista, C. Roberts, V. Pamula, Baebies, Durham, North Carolina
Baebies Awarded $3M Grant for Pediatric Coagulation Testing
Supporting the development of an inexpensive, rapid, near-patient test panel of coagulation markers
Baebies was recently awarded a Phase IIB SBIR grant from the National Institutes of Health (NIH) for a project to develop a coagulation test panel utilizing very small volumes of blood with a rapid turn-around time. Newborns and young children undergoing cardiac surgery are at a significantly increased risk for a major thrombosis event, and comprehensive hypercoagulability testing is indicated in children who have suffered a major thrombotic or thromboembolic event, or who have a family history of thrombosis. Currently available coagulation tests are time-consuming and must be ordered individually, which increases the cumulative volume of blood sample required.
This funding enables continued development of a test panel of coagulation analytes on our near-patient digital microfluidic system combining immunoassays, molecular assays, and enzyme activity assays utilizing a small volume of blood sample. Our development is purposefully aimed at a product that generates rapid results from small sample volumes to provide a comprehensive assessment of hypercoagulability risk and address a critical unmet need in pediatric coagulation management.
Our team is strengthened by a long-standing collaboration with a top-rated pediatric cardiac surgeon, Dr. Sitaram Emani, at Boston Children’s Hospital.
National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH) is the funding agency for this grant. Phase IIB awards provide additional funding to help bridge the gap between R&D and commercialization. Combined with the successfully completed Phase I and II project periods, this project has received a total of $3M in NIH grant funding.
The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. This product is not available for sale or use in any territory.
Baebies Announces Submission of 510(k) to U.S. FDA for Glucose-6-Phosphate Dehydrogenase on FINDER
Durham, N.C. – (May 7, 2020) – Baebies, a growth-stage company developing diagnostic products to provide a healthy start for children everywhere, announced today the submission of FINDER G6PD to the U.S. Food and Drug Administration (FDA). FINDER™, a near-patient testing platform, includes a toaster-sized instrument and a disposable cartridge, which tests for Glucose-6-Phosphate Dehydrogenase (G6PD) from low blood volume (50 µL) with a turn-around time of approximately 15 minutes after sample introduction.
G6PD deficiency is the most common enzyme deficiency worldwide, affecting approximately 400 million people. Hemolytic anemia is the most common clinical symptom associated with G6PD deficiency that is most often triggered by bacterial or viral infections, antibiotics and drugs including those that are used to treat malaria, and foods such as fava beans. Hemolytic anemia can lead to jaundice, shortness of breath, and rapid heart rate.
Richard West, Co-Founder and Chief Executive Officer of Baebies commented, “With the submission of FINDER G6PD to the FDA, Baebies takes an important step forward in support of our mission. This is the first of many tests to come on the FINDER platform, which will fully exploit the flexibility of digital microfluidic technology. We look forward to continued communication with the agency through the review process.”
FINDER received CE Mark in December 2019 as an In Vitro Diagnostic device (IVD) and is commercially available in Europe and other countries that recognize CE Mark. FINDER is not currently for sale in the United States.
G6PD Deficiency in the COVID-19 Pandemic
There are about 350 million people with glucose-6-phosphate dehydrogenase (G6PD) deficiency worldwide.
In this letter, Al-Abdi discusses why G6PD deficiency can be a challenge during the COVID‐19 pandemic. If hydroxychloroquine is found to be the silver bullet for COVID‐19, then this may be a big challenge in treating COVID‐19 in G6PD-deficient patients. Accordingly, it is prudent to use additional precautionary measures to prevent COVID-19 from reaching G6PD-deficient individuals.
There are about 350 million people with glucose-6-phosphate dehydrogenase (G6PD) deficiency worldwide.
In this letter, Al-Abdi discusses why G6PD deficiency can be a challenge during the COVID‐19 pandemic. If hydroxychloroquine is found to be the silver bullet for COVID‐19, then this may be a big challenge in treating COVID‐19 in G6PD-deficient patients. Accordingly, it is prudent to use additional precautionary measures to prevent COVID-19 from reaching G6PD-deficient individuals.
Authors: Sameer Al-Abdi, Maryam Al-Aamri
G6PD deficiency in the COVID-19 pandemic: ‘‘Ghost within Ghost’’, Hematol Oncol Stem Cell Ther
Digital Microfluidic Platform to Maximize Diagnostic Tests with Low Sample Volumes from Newborns and Pediatric Patients
“Children are not tiny adults” is an adage commonly used in pediatrics to emphasize the fact that children often have different physiological responses to sickness and trauma compared to adults. However, despite widespread acceptance of this concept, diagnostic blood testing is an excellent example of clinical care that is not yet customized to the needs of children, especially newborns. Cumulative blood loss resulting from clinical testing does not typically impact critically ill adult patients, but can quickly escalate in children, leading to iatrogenic anemia and related comorbidities.
This report describes the development of a digital microfluidic testing platform and associated clinical assays purposely curated to address current shortcomings in pediatric laboratory testing by using microliter volumes (<50 µL) of samples. The capabilities of this platform allow a wide range of assays to be run simultaneously on the same cartridge using significantly reduced sample volumes with results in minutes.
Authors: Rama S. Sista, Rainer Ng, Miriam Nuffer, Michael Basmajian, Jacob Coyne, Jennifer Elderbroom, Daniel Hull, Kathryn Kay, Maithri Krishnamurthy, Christopher Roberts, Daniel Wu, Adam D. Kennedy, Rajendra Singh, Vijay Srinivasan, Vamsee K. Pamula.
Every company starts with a vision. It provides focused direction. We founded Baebies with the vision that “everyone deserves a healthy start”. Throughout the past 5 years and to this day, our work truly reflects this vision.
Looking back on 2019, we further diversified our offerings in order to reach more babies and impact the lives of all children faster. Here’s a look back and a glimpse at what’s to come:
6 Million Newborn Screening Tests Shipped Globally
To date, Baebies has shipped a total of 6 million newborn screening (NBS) tests – which translates to 6 million chances to save a life. This year alone, we shipped over 2 million tests including our first international shipments. Our FDA-authorized, CE-marked newborn screening platform SEEKER® is used to screen babies in the U.S. (installed in 7 states) and Qatar. Multiple international locations have conducted initial pilot studies with plans to start live screening with SEEKER in early 2020. SEEKER’s flexible throughput, small footprint, easy installation and simple operation makes it an ideal solution for many NBS programs.
Our team traveled the globe to over a dozen conferences discussing the expansion of newborn screening with expert clinicians and NBS thought leaders. While we discussed plans for adoption of NBS for lysosomal storage disorders (including MPS I, Pompe, Gaucher and Fabry diseases), we also shared plans for expansion of Baebies assay pipeline including tests for biotinidase deficiency and galactosemia.
First Anniversary of Testing in Baebies CLIA-certified Laboratory
To further expand our newborn screening efforts, Baebies launched our CLIA-certified laboratory in late 2018. One of the services offered by this lab is second tier testing by DNA sequencing for public health labs. Multiple state NBS programs are performing first tier newborn screening with SEEKER and sending any positive screens to our lab for second tier sequencing to further reduce the false positive rate and referral burden to follow-up programs.
FINDER™ Receives CE Mark, Clinical Trials Underway
Life-threatening conditions for newborns require multiple tests and large sample volumes for an accurate diagnosis. Minimizing blood loss in critically ill newborns and children can save lives. Baebies’ solution is FINDER. FINDER uses one drop of blood to test for Glucose-6-Phosphate Dehydrogenase (G6PD) and is designed specifically around neonatal and pediatric patient needs.
This month FINDER received CE mark, with plans to apply for FDA clearance in early 2020. Clinical trials are underway at multiple sites. The first international clinical evaluation will start in the new year.
Our plans for 2020 include expanding our customers and obtaining CE marking and FDA clearance for additional NBS assays on SEEKER and diagnostics panels on FINDER.
But we cannot look ahead without first recognizing the contributions of our employees and supporters.
None of this would be possible without the Baebies staff. Our 90-person team can be described by our core values: innovative, customer-centric, high-velocity and mission-driven.
To our investors, we appreciate your backing as we grew our Series B to $19M.
To our board, collaborators, informal advisors, and advisory board members – thanks for your guidance, time and participation at events with our team.
It is important to remind ourselves, especially around the holidays, why our work matters. During Newborn Screening Awareness Month, we shared the story of two-year-old Maggie who was diagnosed with MPS I, a progressively debilitating genetic disorder, just after her first birthday. Her diagnostic odyssey could have been avoided with newborn screening. There is still much more work to do to reach all children – in the U.S. and beyond – with products and services that enable early disease detection and comprehensive diagnosis. We look forward to reaching millions more families in 2020.
Happy Holidays to you and your family!
Richard West and Vamsee Pamula
Founders of Baebies
Do More With Less: Approaches to Minimize Blood Loss in Critically Ill Newborns and Children
Though clinical laboratory tests are an invaluable component of medical care, complications can be caused by the blood sampling process, especially in critically ill newborns and children undergoing intensive care and monitoring.
This white paper outlines the potential adverse effects of conventional blood testing and emerging approaches to mitigate and resolve this problem including: coordination of sample collection, decreasing the amount of sample drawn and maximizing diagnostic yield using less sample.
Posted 12/17/2018 by Richard West and Vamsee Pamula,
Founders of Baebies
Four years ago, we started Baebies with a singular mission to save lives and make lives better for all children. Today, we celebrate the shipment of our 4 millionth test to newborn screening programs. Six states are now using Baebies SEEKER, the first FDA-cleared newborn screening platform for lysosomal storage disorders (LSDs). Our digital microfluidics technology has helped to identify babies with these rare diseases early enough to start treatment before life-threatening symptoms appear. By working closely with state newborn screening programs, we have helped children thrive, such as Georgia – a bubbly four-year-old with Pompe disease.
We are proud of our work so far in contributing to millions of healthy starts for babies across the U.S. The extra ‘e’ in our name is a daily reminder to us that every child, here and worldwide, deserves a healthy start. So, what’s next?
Take SEEKER International
Baebies has officially gone global! We have secured our first customer outside the U.S. and will be sending SEEKER overseas this month. SEEKER is the only practical newborn screening solution for many countries around the world because of its flexibility, easy installation, zero maintenance requirements, and simple workflow. Whether a lab is testing 40 babies a day on one instrument or over 400 babies a day with three runs on a four-instrument workstation, SEEKER fits on a standard lab bench. We are agile and poised to get more pilots up and running for LSD screening worldwide.
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Expand State Newborn Screening Panels
Currently, 17 out of 53 U.S. states and territories are screening for Pompe disease and even fewer for MPS I, Fabry, and Gaucher. Many precious babies are becoming disabled while the implementation is delayed. Days matter for Pompe and years are rolling by! In 2019, we want to see more states adopt the Secretary of Health’s recommendation to screen all their newborns for Pompe and MPS I. As advocates for babies with rare and congenital diseases, we will work with newborn screening stakeholders across the country to help accelerate implementation.
Although the Secretary’s committee has thoroughly vetted the additions of Pompe and MPS I to the Recommended Uniform Screening Panel, each state still has to adopt the recommendation. During that process, some states and their advisory committees prefer to see more evidence on effectiveness of screening. State newborn screening staff do a terrific job of ensuring every baby, within their mandate, gets a healthy start and we work closely with our customers to help analyze data in support of expanding screening for LSDs to other states. Our work goes above and beyond the typical lab-vendor relationship. Baebies is a partner with our state public health lab customers and we will continue to invest in the progress of newborn screening programs.
Address the Gap with Supplemental Newborn Screening
While newborn screening is one of the most successful U.S. public health programs, each state on average screens for just over 40 conditions. Therapies are available for hundreds more conditions. With many of these conditions, the symptoms are not obvious at birth. Without newborn screening, families are set off on diagnostic odysseys spanning years, missing the precious window within which clinical outcomes could be better with early intervention. We believe that this diagnostic odyssey is unnecessary, expensive, and emotionally draining for patients and families.
To bridge the gap between state public newborn screening programs and available therapies, Baebies developed Eli, an innovative supplemental newborn screening service for families because Every Life is Important. Eli serves to supplement, and not compete with, the screening that is typically conducted in public health labs around the world.
As of October 2018, Eli is now available for expecting families to purchase in most of the United States. Eli screens for 32 treatable conditions; samples are tested in our CLIA-certified lab on site at our headquarters in Durham, NC. We will continue to develop new newborn screening tests, add them to the Eli panel, and create additional channels to bring these new tests to newborns.
Introduce FINDER
When it comes to healthy starts, high throughput, lab-based newborn screening is just one part of the solution. For newborns who stay in neonatal intensive care units (NICU), there are no panels of tests devised addressing their unique needs. That’s why we are developing FINDER, a small, innovative and connected testing solution that is designed to use a tiny blood sample to quickly perform time-critical tests. Utilizing a single instrument and many disease-specific cartridges, FINDER is designed solely to address the needs of babies in the NICU and pediatric patients. Our launch panel on FINDER is for jaundice, including tests for Glucose-6-Phosphate Dehydrogenase (G6PD), Total Serum Bilirubin, and Albumin. In August, we began pre-clinical evaluation at Stanford University. 2019 will be a milestone year for FINDER as we get ready for commercialization.
With the holidays upon us, we pause to spend time with our families and we are reminded of life’s most cherished gifts – health and happiness. We celebrate the healthy starts that have been aided by our four million tests and look forward to still many more in the coming year. Besides many others in the newborn screening ecosystem, much of the credit goes to our fellow Baebies employees who are driven to accomplish our mission of ensuring a healthy start to all babies. Baebies will be there, bigger and better in 2019. We hope you will stay tuned to our progress in the new year.
Happy Holidays to you and your family!
Richard West and Vamsee Pamula
Founders of Baebies
Not ‘Just Interns’
At Baebies, we recruit interns who work on real business cases. Our interns don’t file papers or make coffee runs. They assist in research and development to help more babies have a healthy start.
“Our interns contribute to research projects that lead to commercialized products,” said Lisa Nelson, Senior Scientist at Baebies and direct manager to several current interns. “Similar to hiring staff, we look for interns who are intellectually curious, self-driven, and passionate about research. These qualities are essential to our mission to save lives, and make lives better for millions of children.”
Meet our Elite Eight
This summer we have 8 interns who are actively working on the expansion of our assay pipeline and on new product FINDER (currently under development).
Most of our interns have degrees from nearby North Carolina State University and Duke University, but we also have current Masters students from the University of Missouri-Columbia and the University of Texas at Dallas. These “Elite Eight” also have a range of degrees, from a recent undergraduate in engineering to a Ph.D. in microbiology.
From left: Yuqi Huang, Becky Kitchener, Ph.D., Sriram Gaddamanugu, Srujan Bhagwat, Daniel Wu, Dhruv Patel, Alicia Hoagenson. Not pictured: Caroline Wright.
Collaborative, Meaningful Work
Baebies interns don’t operate in their own bubbles. When asked what they like most about working at Baebies, two aspects ring true for all:
Friendly, collaborative team
Meaningful work that will actually help people
“I have enjoyed working in Baebies’ fast-paced, collaborative, and innovative environment, and am excited to help bring a product to market which can profoundly improve the standard of healthcare for newborns,” commented Sriram Gaddamanugu who is working on the FINDER product.
What’s Next
Our interns have made an impact at Baebies and will continue to change the world as their careers progress. Our diverse group includes an MBA candidate, an aspiring dentist, and a future tissue engineer to name a few.
Becky Kitchener, Ph.D. summarized it well: “This internship has really shown me that I want to continue doing challenging work that matters.”
Baebies internships are posted in the usual spots: on our website, external job sites, social media, and university career services portals. But half of our current interns found out about the opportunity through personal connections to Baebies employees. If you are interested in working at Baebies, we encourage you to reach out to our employees for referrals.
Enzymatic Functional Assays of Coagulation Using Small Sample Volumes
This study demonstrates the feasibility of using lower sample volumes for testing coagulation markers of enzymatic functional assays on a microfluidic cartridge.
Authors: Sirisha Emani, PhD, Lisa T Nelson, MS, Scott Norton, PhD, Rajendra Singh, PhD, Vamsee Pamula, PhD, Sitaram Emani, MD
Baebies Announces Completion of $10 Million Series B Financing
Innovative Newborn Screening and Pediatric Testing Company Ships 2 Millionth Test
DURHAM, N.C., October 31, 2017 — Baebies, a growth-stage company that delivers innovative products and services for newborn screening and pediatric testing, today announced that it has secured $10 million in Series B financing in an oversubscribed round anchored by BOE Technology Group Co., Ltd. BOE is a global leader in semiconductor display industry as well as an IoT company providing intelligent interface products and services for information interaction and human health. Baebies also received funding from family offices, with continued support from current investors and the North Carolina Biotechnology Center.
The company also announced the shipment of its 2 millionth test. The company’s SEEKER® product was cleared by the FDA earlier this year and remains the only newborn screening platform authorized for testing for lysosomal storage disorders.
“Baebies digital microfluidic technology is the future of newborn screening methods and we’re proud to collaborate in technology development and play a role in bringing this technology to the global market,” said Lijun Mao, General Manager of BOE Sensor Technology Co., Ltd. “As new technologies arise in healthcare, we want to back the most innovative and promising companies. Baebies has demonstrated rapid growth in the company’s product pipeline and team. The company is a tremendous fit with our Healthcare business, which is committed to offering people-oriented healthcare services by developing mobile healthcare, digital hospitals, regenerative medicine and healthcare park solutions,” said Wei Wu, PhD, Healthcare Investment Director of BOE Ventures.
“This has been an exciting year for Baebies: our team has grown to 60 talented employees, we have secured FDA clearance for our SEEKER screening platform and we recently announced a global distribution partnership with Labsystems Diagnostics to expand the product offerings in the newborn screening space,” said Richard West, Baebies co-Founder and CEO. “We are getting closer to our goal of expanding newborn screening and pediatric testing worldwide to the millions of babies that don’t have access to it.”
“When Richard West and I founded this company in 2014, we set a goal that by 2018 we would provide 2 million chances for a healthy start. Early intervention is critical and we are thrilled to have reached this milestone early. We never lose sight of the fact that every test shipped holds the potential to save a life,” said Vamsee Pamula, PhD, Baebies co-Founder and President.
About Baebies At Baebies our sole focus is to advance newborn screening and other pediatric testing worldwide. Baebies is guided by the vision that “everyone deserves a healthy start”. Baebies delivers innovative products and services to make life better for all babies. Baebies offers SEEKER®, the only newborn screening platform authorized by the U.S. FDA for lysosomal storage diseases and is developing FINDER, a rapid near-patient newborn testing solution. FINDER is not available at this time for sale or use in any territory. By bringing new technologies and new tests to the healthcare community, Baebies is providing hope to parents and the chance at a better life to newborns. For more information visit www.baebies.com.
About BOE Founded in Beijing, April 1993, BOE Technology Group Co., Ltd. is a world leading semiconductor and IoT company providing intelligent interface products and services for information interaction and human health. BOE’s three core businesses are Display and Sensor Devices, Smart Systems and Healthcare Services. For more information visit: www.boe.com.
Baebies Completes First Close on Series B Financing
DURHAM, N.C., February 27, 2017 – Baebies, Inc., a company focused on advancing newborn screening and pediatric testing, announced today it has completed a $5 million first close on its Series B financing. The company plans to raise an additional $5 million in the coming months. Baebies received clearance from the U.S. Food and Drug Administration (FDA) for its SEEKER newborn screening system earlier this month.
“Our FDA clearance creates an opportunity to take the company to the next level. We have a great product and a great team, and this Series B will ensure that we have the financial resources required to complete the journey to commercialization,” said Richard West, Baebies’ CEO.
About Baebies, Inc.
At Baebies our sole focus is to advance newborn screening and other pediatric testing worldwide. Baebies is guided by the vision that “everyone deserves a healthy start”. Baebies is developing innovative, easy to use and connected products to make life better for millions of babies. By bringing new technologies and new tests to the healthcare community, Baebies is providing hope to parents and the chance at a better life to newborns. For more information, please visit www.baebies.com.
Press Contact
Jeff Florence
jflorence@www.baebies.com
(919)-328-8332
Baebies to Exhibit and Display FINDER Prototype at 2016 AACC Annual Scientific Meeting
DURHAM, N.C., June 30, 2016 – Baebies, Inc., a company focused on advancing newborn screening and pediatric testing, today announced that the company will exhibit and display a prototype of FINDERTM at the 68th AACC Annual Scientific Meeting and Clinical Lab Expo. FINDER, currently under development, is a small, innovative and connected testing solution that uses a tiny blood sample to quickly perform time critical pediatric tests.
Baebies unveiled the FINDER prototype at the 2016 Pediatric Academic Societies meeting in April. The platform is only 8 inches wide, has a detachable mini tablet as the user interface and could be used in various settings such as hospital nurseries or laboratories, neonatal intensive care units and birthing centers.
FINDER will be on display at Booth 4366 at the upcoming AACC Annual Scientific Meeting & Clinical Lab Expo to be held in Philadelphia, Pennsylvania from July 31 through August 4, 2016.
About Baebies, Inc.
At Baebies, the sole focus is to advance newborn screening and other pediatric testing worldwide. Baebies is guided by the vision that “everyone deserves a healthy start”. Baebies is developing innovative, easy to use and connected products to make life better for millions of babies. By bringing new technologies and new tests to the healthcare community, Baebies is providing hope to parents and a better life to newborns. Baebies is headquartered in Durham, NC. For more information, please visit www.baebies.com.
Baebies Appoints Former Medtronic CEO and Illumina Ventures Founding Partner to Its Board of Directors
DURHAM, N.C., June 30, 2016 – Baebies, Inc., a company focused on advancing newborn screening and pediatric testing, today announced that William A. Hawkins and Nicholas Naclerio, PhD have joined the company’s Board of Directors effective immediately. Mr. Hawkins is the retired Chairman and CEO of Medtronic, a world-renowned innovative medical technology company. Dr. Naclerio is the Founding Partner of Illumina Ventures, an early stage venture capital firm strategically aligned with Illumina, Inc.
“We are very pleased to welcome both Mr. Hawkins and Dr. Naclerio to our Board and look forward to leveraging their experience as we bring our game-changing product portfolio to market,” said Richard West, Baebies’ Chief Executive Officer and Co-Founder. “Bill and Nick’s proven track records in bringing innovative products to market and their collective global leadership experience make them an excellent addition to our Board.”
Mr. Hawkins brings over 30 years of experience in innovative technologies, entrepreneurship, and leading global healthcare ventures to the Baebies’ board. Among Mr. Hawkins extensive accomplishments is holding several leadership positions at Medtronic, including serving as Chairman and CEO. Prior to Medtronic, Mr. Hawkins held senior leadership positions at several prominent healthcare companies, such as Johnson & Johnson and Eli Lilly & Co. Most recently, Mr. Hawkins served as President and CEO of Immucor, a provider of transfusion and transplantation diagnostic products worldwide. Mr. Hawkins is active on several public, private and not-for-profit boards and has a consistent track record of shifting healthcare paradigms with innovative solutions.
With his entrepreneurial experience, Dr. Naclerio will propel Baebies’ product pipeline and push for more innovative ideas to advance pediatric testing. Dr. Naclerio joined Illumina in 2010 and served as Illumina’s Senior Vice President of Corporate and Venture Development through 2016 when he left to found Illumina Ventures in April 2016 as Founding Partner, where he manages investments and participates on company boards. Before joining Illumina, Dr. Naclerio co-founded or served in high profile leadership positions at numerous diagnostic and life science firms, including Quanterix, ParAllele Bioscience, True Materials, and Motorola Life Sciences. Dr. Naclerio has served on a number of corporate and institutional boards.
“I am thrilled to be joining Baebies’ Board of Directors”, said Bill Hawkins. “The Baebies team has the passion, technology and innovation necessary to rapidly change the landscape of newborn screening and pediatric testing.”
About Baebies, Inc.
At Baebies, the sole focus is to advance newborn screening and other pediatric testing worldwide. Baebies is guided by the vision that “everyone deserves a healthy start”. Baebies is developing innovative, easy to use and connected products to make life better for millions of babies. By bringing new technologies and new tests to the healthcare community, Baebies is providing hope to parents and a better life to newborns. Baebies is headquartered in Durham, NC. For more information, please visit www.baebies.com.
Richard West, CEO of Baebies, Inc was awarded with the 2016 Life Sciences CEO of the Year Award from Triangle Business Journal. The Triangle Business Journal hosted the 2016 Life Sciences Awards on Thursday, May 26, 2016 in Cary, North Carolina. The Life Sciences Awards recognize both individuals and research organizations that are breaking ground in this field. There are more than 600 life sciences companies in North Carolina, and the majority of them are either headquartered or have a significant presence in the Triangle, according to Triangle Business Journal.
Point-of-Care Quantitative Measure of Glucose-6 Phosphate Dehydrogenase Enzyme Deficiency
This report demonstrated the feasibility of measuring glucose-6-phosphate dehydrogenase (G6PD) enzyme activity via the digital microfluidic platform for point-of-care newborn screening.
Authors: Vinod K. Bhutani, Michael Kaplan, Bertil Glader, Michael Cotten, Jairus Kleinert, Vamsee K. Pamula
Innovate Session Review: Baebies Team, Second Tier Testing Service & Assay Pipeline
Members of the Baebies team traveled to Chicago for the APHL Newborn Screening and Genetic Testing Symposium (NBSGTS). This conference brings together ‘national and international experts to discuss new and emerging technologies, candidate conditions, quality improvement, and clinical outcomes and therapeutics, and other developments in the fields of newborn screening and genetics.’ Congrats to the Association of Public Health Laboratories (APHL) for hosting over 500 attendees for this year’s meeting!
Along with a booth in the exhibit hall, our participation at the 2019 APHL NBSGTS included an Innovate! Session titled “Beyond SEEKER: Baebies’ Second Tier Sequencing & Assay Expansion”. Speakers included:
Richard B. Parad, MD, MPH, Neonatologist, Brigham and Women’s Hospital & Associate Professor of Pediatrics, Harvard Medical School
Baebies, Inc. Raises $13 Million in Oversubscribed Round of Financing
Pioneering Digital Microfluidic Technology with a Singular Focus on Newborn Screening
DURHAM, N.C., July 28, 2015 – Baebies, Inc. today announced the completion of a round of equity financing totaling $13 million. The oversubscribed round of financing included key investors Rex Health Ventures, DUMAC, LLC (managers of the Duke endowment), Cunning Capital, Triad, LLC, the Duke Angel Network and a loan from the North Carolina Biotechnology Center. Many of Advanced Liquid Logic’s (ALL) former investors including Charleston Angel Partners, and Baebies’ executive team, also invested.
“Rex is pleased to support this promising young company,” said Steve Burriss, president of Rex Healthcare, the Raleigh-based health system that started Rex Health Ventures in 2012. “Not only will we further our mission by improving the health of newborn babies, but we are in a unique position to aid Baebies in the development of their groundbreaking products.”
Baebies is developing innovative and easy-to-use products using state-of-the-art technologies to advance newborn screening worldwide. “Over 100 million babies born each year are not screened for even the most basic treatable congenital disorders. This translates to nearly 250,000 children each year whose lives could be dramatically improved with screening. We can make a real difference,” said Vamsee Pamula, Baebies president and co-founder.
Pamula and CEO Richard West founded Baebies to address the need for better tools in global newborn screening after the sale of Advanced Liquid Logic to Illumina, Inc. and have built a strong team, including many employees that have previous experience with the digital microfluidics platform. “The impressive team and product vision of the company reinforced the decision by our members to make Baebies our first investment,” said John Glushik, Managing Director for the Duke Angel Network.
The company licensed its core technology, digital microfluidics, from Illumina. In addition to a technology license in newborn screening that does not include sequencing, Baebies also received equipment, contracts, and other consideration in exchange for a share of ownership in the new company. “What all this means is that we get to start the company in the middle, instead of at the beginning,” said West.
About Baebies, Inc.
Baebies is guided by the vision that “everyone deserves a healthy start”. Baebies is saving lives, making lives better, and enabling easier access to testing for babies around the world by delivering a new paradigm to newborn screening. Baebies is bringing new technology, new tests, and new hope to parents and healthcare professionals worldwide. Baebies is headquartered in Durham, NC. For more information, please visit www.baebies.com.
G6PD deficiency is the most common enzyme deficiency in humans, affecting millions worldwide. G6PD-deficient individuals may suffer life-threating complications from hemolysis triggered by certain foods, drugs, and infections. G6PD-deficiency in newborns can lead to high bilirubin levels that in some cases can progress to irreversible brain damage. The World Health Organization recommends screening for G6PD deficiency in populations with a prevalence greater than 3-5%. Prior studies have shown rates of G6PD-deficiency among African Americans, particularly males, can be as high as ~12%. G6PD deficient individuals that are unaware of their status may face lifelong complications of varying severity, highlighting the value of early diagnosis.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is among the most common human enzyme defects, present in about 400 million people across the globe
The evaluation was conducted by Rohit Hirachan at the 
The development of the sepsis diagnostic takes place on FINDER®, a highly versatile diagnostics instrument with the ability to perform molecular, immunoassay, hematology, and chemistry assays. By integrating blood culture with 
“The Baebies sepsis diagnostic is designed to use multiple methods to provide several types of information to the user – whether an infection is bacterial, what class of bacteria it is, what the bacterial species is – and it will provide this information very quickly from a small sample. Timing of proper treatment has a huge effect on patient outcomes, so our product’s speed will help in making the best choice about treatment for infection,” said Abbey Jackson, PhD.
