Amy Brower, Ph.D.
Associate Project Director, Newborn Screening Translational Research Network, American College of Medical Genetics and Genomics
A system that begins with neonatal screening was established over 50 years ago to diagnose these infants as early as possible and begin treatment, and the number of screened conditions has increased as screening and diagnostic technologies have advanced and new treatments have become available.
Each state determines which conditions to screen
Screening is a state-based public health program, and all newborns receive screening. A federal advisory committee recommends which conditions should be screened, but each state makes the final decision. Parents and family groups play an important role in lobbying states to expand the number of diseases included in screening.
The goal of newborn screening is rapid diagnosis and targeted treatment
Testing babies in the hours after birth often leads to a diagnosis before symptoms appear and enables clinicians to initiate targeted therapies. The majority of diseases involve a defect in a single protein that leads to clinical symptoms, and treatments range from lifelong nutritional interventions to stem cell transplants.
The future of therapies is based on genetics
Treatments based on the genetic change causing the disease are becoming a major focus in drug development. Several gene therapies are currently available or in development for newborn screened disorders; however, they can be used only in newborns with specific DNA changes, which typically represents only a subset of those with a particular disease.
Translational research efforts are key to insuring the best outcome for all newborns
The development of novel therapies coupled with the use of genomic sequencing to accelerate diagnosis and guide treatment are the keys to ensuring that all newborns have a chance for a healthy future. Programs like the NICHD-funded Newborn Screening Translational Research Network (NBSTRN) at ACMG highlight the efforts to translate discoveries from basic research to public health and clinical care, resulting in the realization of precision medicine.
