Strategies to modernize newborn screening

Don Bailey, PhD

A coordinated national effort is needed to modernize newborn screening and accommodate a growing number of transformative therapies, according to a survey study of experts in JAMA Network Open.¹

Principal investigator Don Bailey, PhD, distinguished fellow in the Genomics, Bioinformatics and Translational Research Center at RTI International in Research Triangle Park, North Carolina, said that his experience serving on a national advisory committee “made it clear that there were many disorders that could be considered for newborn screening, but multiple challenges such as lack of data, funding, and variation across states make it difficult to rapidly review and add new disorders.”

The advent of numerous transformative treatments that address the underlying cause of a disorder rather than treating symptoms, “will exert pressure on an already stressed system, forcing the need to make fundamental changes,” Bailey told Contemporary OB/GYN®. “However, the nature and extent of changes required have not been documented.”

The study recruited 40 national newborn screening experts to participate in the online survey from December 2020 to February 2021 to identify major challenges and suggest solutions, plus assess the impact, feasibility, acceptability, and sustainability of those solutions.

Participants acknowledged that substantial change is needed to prepare the newborn screening system for rapid expansion of novel therapies. In addition, 45% believe that the system will require many new components or an entirely new system to accommodate the changes.

All 20 prospective solutions for modernization were considered potentially efficacious by at least 57.5% of respondents, with mechanisms for cross-state data coordination and a network of regional screening laboratories being the 2 most strongly endorsed recommendations.

Aligning programs across federal agencies, expanding funding for research, increasing funding to states, building capacity to identify genetic variants with a clinical database, and conducting surveillance to study long-term outcomes also received wide support.

“Although I knew that change was needed, I was surprised at how strongly participants believed that the current system is not prepared to accommodate a rapid increase in transformative treatments that must be provided early in life,” Bailey said. “The need for better data gathered in an expeditious fashion is well known, but the experts made clear that coordinated systems for collecting and analyzing these data will be essential to accelerate change.”

Newborn screening is currently a highly successful system, well established after more than 60 years of service and growth, according to Bailey. “Change will be difficult, though, because newborn screening is a state-based program,” he said. “Despite considerable federal guidance, ultimately states are responsible for screening and each state is different.”

Bailey noted there is a definite need for a national approach to newborn screening; however, various state perspectives on federal guidance will make universal change challenging. “A national coordinated data system is desperately needed,” he said. “New funding will be necessary for both research and screening; also, the pool of trained personnel who are willing and able to work in state laboratories must grow substantially.”

Because many groups have a stake in newborn screening, “Who will take responsibility for integrating varying perspectives to modernize newborn screening?” Bailey pondered. “Funding and auspice will be critical decisions.”

Moreover, none of the solutions identified by the study will be effective alone. “A strategic plan is needed in which these and other solutions are assembled into meaningful and successful reform,” Bailey said.

Reference

1. Bailey Jr. DB, Porter KA, Andrews SM, et al. Expert evaluation of strategies to modernize newborn screening in the United States. JAMA Netw Open. Published online December 29, 2021. doi:10.1001/jamanetworkopen.2021.40998