Newborn Screening – How to Fill the Gap to End Diagnostic Odysseys


Posted 10/31/2018 by Richard West, Founder & CEO

Many of the over 7000 rare diseases identified so far are not obvious at birth or may come with confusing, non-descript symptoms. Unfortunately, the currently available diagnostic algorithms are unsatisfactory. If a patient’s condition remains undiagnosed, the miraculous and rapid advancements in pediatric rare disease therapies mean nothing. The truth is that some families search for more than ten years for the correct diagnosis, which often translates to irreversible damage or even death for pediatric patients. It is essential to find these babies and ensure that they live their healthiest life by receiving the care they need as early as possible.

The painful, costly and sometimes traumatic diagnostic odyssey that patients live through is a result of a few key factors. First, there are not enough newborn screening tests available. A good newborn screening test has a very low false negative rate, a low false positive rate and costs about $1.00. There are newborn screening tests for about 70 conditions available today. This falls well short of the 200 or so rare diseases that can affect newborns that have FDA approved therapies. Second, newborn screening is not consistent. While newborn screening is one of the most successful public health programs in the United States, each state decides what conditions to screen, creating inconsistencies. A baby can be undiagnosed simply because they are born a few miles away in another state that does not screen for a certain condition. While the promise of the Recommended Uniform Screening Panel (RUSP) is to standardize screening panels across states, each state has a different process for adding conditions to their state panel and for providing the resources for additional testing. Finally, outside of the US, there is a baby born every minute that goes undiagnosed because many countries have little or no public newborn screening program, even for conditions for which there are very inexpensive therapies.

Baebies is advancing comprehensive newborn screening and pediatric testing. The company name comes with an extra “e,” because Baebies believes “everyone deserves a healthy start.” Finding babies with rare disease using expanded newborn screening is the overarching goal of Baebies which sees the diagnostic odyssey as unnecessary and costly for patients and families. To help identify babies with treatable conditions, Baebies developed Eli, an innovative supplemental newborn screening service for families. This screening is called “supplemental screening” in that it serves to supplement, and not compete with, the screening that is typically conducted in public health labs around the world. Let’s move towards ending the diagnostic odyssey and give every baby the healthy start they deserve.

Richard West, Founder & CEO

Partner with Baebies