The Progress and Future of US Newborn Screening

Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding and policies. With the current explosion of clinical trials of treatments for rare diseases, the pressure for expansion has grown, and concerns about the capacity for improvement and growth are being expressed. Genome and exome sequencing (GS/ES) have now opened more opportunities for early identification and disease prevention at all points in the lifespan. The greatest challenge facing NBS stems from the conditions most amenable to screening, and new treatment development is that we are screening for rare genetic diseases. In addition, understanding the spectrum of severity requires vast amounts of population and genomic data. We propose recommendations on improving the NBS system and addressing specific demands to grow its capacity by: better defining the criteria by which screening targets are established; financing the NBS system's responsiveness to opportunities for expansion, including engagement and funding from stakeholders; creating a national quality assurance, data, IT, and communications infrastructure; and improving intra-governmental communications. While our recommendations may be specific to the United States, the underlying issues should be considered when working to improve NBS programs globally.

Automated summary

Progress in newborn screening has been driven by advancements in science and technology, consumer advocacy, provider actions, and government funding. The current increase in clinical trials for rare diseases has created a need for expansion and improvement. Genome and exome sequencing have provided more opportunities for early identification and prevention, but the challenge lies in screening for rare genetic diseases and the need for extensive population and genomic data. Recommendations include defining screening criteria, financing expansion, establishing infrastructure, and improving communication.