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
- Andy Bhattacharjee, PhD, VP of Laboratory Services, Baebies
- Candice Brannen, PhD, Senior Director of Lab Products, Baebies
Please note: Content for Innovate! Sessions are provided solely by the presenting company.
The agenda of our Innovate! Session included:
Baebies - Who We Are
- We have 90 employees including 30 PhDs.
- Our work is centered around our mission to save lives and make lives better for children everywhere. This focus applies to all business units:
- Lab Products including SEEKER the first FDA-cleared newborn screening platform for lysosomal storage disorders including Pompe, MPS I, Gaucher, Fabry
- Near-Patient Testing including FINDER (currently under development)
- Lab Services including second tier sequencing for public health labs
- Research and Development powered by the inventors of digital microfluidics technology
Baebies Second Tier Testing with Targeted Next Generation Sequencing (tNGS)
- Second tier testing in newborn screening helps further identify infants at risk of having a metabolic condition, while reducing false positives.
- (Slides 14-24) Dr. Richard Parad presented the clinician’s perspective “NBS Second Tier Testing: Pros and Cons of Biochemical assay vs. tNGS”
- Backgrounds on DNA testing and tNGS
- Case examples of tNGS benefit
- Weighing the Pros/Cons for 2nd tier biochemical assay vs. tNGS
- (Slides 25-32) Andy Bhattacharjee, PhD, VP of Laboratory Services at Baebies presented:
- Introduction to Baebies CLIA lab staff and clinical reporting team
- Baebies tNGS service details including:
- 7-business day turnaround time for results
- Proprietary algorithms (CNV caller, VUS caller) powered by clinical genetics and newborn experts
- CRIM status prediction for Pompe disease: drives treatment decisions
- Genotype information to inform care. Pseudodeficiencies and mutation burden can make clinical predictions difficult from biochemical assays.
- Pros and Cons of Second Tier tNGS vs. other methods
Baebies Assay Pipeline
- Versatility of digital microfluidics technology
- One cartridge supports multiple assay protocols
- Tests and panels support past/upcoming RUSP nominations such as:
- Biotinidase deficiency
- Duchenne muscular dystrophy
- MPS (II, IIIA, IIIB, IVA, VI)
- Niemann Pick
Digital microfluidics uses quick manipulation of separate droplets by electrical control of surface tension (electrowetting) to perform assay protocols.
Innovate! Session references:
- Wojcik MH, Parad RB. Neonatal Genomics: Part 1—Basics and Definitions. NeoReviews, May 2017, VOLUME 18 / ISSUE 5.
- Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, Vannoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL, and The BabySeq Project Team. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Molecular Case Studies, May 2018.
- Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P. Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. Genetics in Medicine, Nov 2017.
- Burton B, et al. The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease. Pediatrics, July 2017, VOLUME 140 / ISSUE Supplement 1.
- Chein Y, et al. Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth. Journal of Pediatrics, 2015.
- Yang CF, et al. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes Journal of Pediatrics, 2016.
- Owens P, Wong M, Bhattacharya K, Ellaway C. Infantile‐onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response. Journal of Paediatrics and Child Health, June 2018.