Landmark Study Calls for Modernization of Newborn Screening System in US

January 5, 2022

Rare families face too many challenges with our current newborn screening system in America.  It takes too long to get a new condition approved and even longer for screening to actually start in each state, leading to preventable deaths and disability. Increasingly, families with resources or who live in certain geographic areas are pursuing more comprehensive screening on their own while other families are left behind. Unless something changes, a two-tiered system will result. In partnership with patient advocates, Travere has been championing change at the federal and state level to catalyze advancements for patients.

Last week, an important study was published calling for the modernization of the newborn screening (NBS) system. Expert Evaluation of Strategies to Modernize Newborn Screening in the United States, published in JAMA Network Open, was conducted with the support of Travere in partnership with Orchard, Sarepta, BioMarin, and the EveryLife Foundation for Rare Diseases.

This first-of-its-kind study evaluates the opportunities and challenges facing newborn screening and proposes solutions to a system that could better serve all patients and reflect current advances in science. Significantly, the study is the first-ever to codify that stakeholders across the newborn screening system believe extensive change is necessary.

The landmark study was led by Don Bailey, Ph.D., of RTI International, a nonprofit research institute. Dr. Bailey is a former member of the federal Advisory Committee on Heritable Disorders in Newborns and Children.  The research involved 42 representatives from 5 stakeholder groups – patient advocates, clinician/researchers, state NBS labs, state or federal advisory board members, and industry.

Expert stakeholders identified feasible and effective solutions for NBS to adapt with the accelerating pace of therapeutic discovery, covering topics including:

  • establishing regional screening labs for expediting new disorders
  • building a national capacity to identify genetic variants and an associated clinical database
  • better cross-state data coordination
  • aligning federal programs to expedite new conditions
  • expanding funding for research and state assistance

The EveryLife Foundation will hold a next-steps conference with the participants this spring to establish workstreams and work to operationalize policy solutions.

Read the paper in JAMA Network Open >

Newborn Screening