4 Critical Facts About Newborn Screening in the United States
Prevention & Treatment As the medical community celebrates 50 years of screening, an expert explains how genetic testing in the first hours after birth enables precision medicine.
Every day 12,000 babies are born in the United States, and on average 56 of these newborns have a life-threatening or disabling genetic disorder that does not immediately show signs or symptoms. To diagnose and treat these infants, a system of screening began over 50 years ago, and the number of screened conditions has increased as treatments become available. Here are four things everyone should know about newborn screening:
1. Each state determines which conditions to screen
Screening is a 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 patient advocacy groups play an important role in lobbying states to expand the number of diseases included in screening.
2. The goal of newborn screening is rapid diagnosis and targeted treatment
Testing babies in the hours after birth 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.
3. The future of therapies is based on genetics
A major focus in drug development is treatments based on the genetic change causing the disease. Several gene therapies are currently available or in development for newborn screened disorders. While these molecularly-designed treatments are a welcome development, they can be used only in newborns with specific DNA changes, and in most cases, this represents only a subset of those with a particular disease.
4. Translational research efforts are key to ensuring 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 NIH-funded Newborn Screening Translational Research Network (NBSTRN) at ACMG highlight the efforts to translate discoveries from basic research to public health and clinical care and will result in the realization of precision medicine.