On December 3–4, 2025, Dr. Joseph Orsini, PhD, of the Wadsworth Center, participated in the Association of Public Health Laboratories’ (APHL) annual Newborn Screening (NBS) Face-to-Face Committee Meeting in Bethesda, Maryland. Dr. Orsini serves as Co-Chair of the national NBS Committee, which provides guidance, develops best practices, and addresses emerging challenges to ensure high-quality newborn screening programs across the United States.
The Committee includes representatives from state newborn screening programs nationwide, as well as experts from the Centers for Disease Control and Prevention (CDC) and the Health Resources and Services Administration (HRSA). This year’s agenda covered key developments in newborn screening policy, practice, and program performance.
Major topics included:
- Federal Program Updates: CDC and HRSA provided updates on national newborn screening initiatives, laboratory quality improvement efforts, and programmatic priorities.
- Reinstatement of Evidence Review Processes: The Committee reviewed the American College of Medical Genetics and Genomics (ACMG) initiative to reestablish the evidence review process previously led by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). ACHDNC historically recommended disorders for inclusion on the Recommended Uniform Screening Panel (RUSP).
- NewSTEPs False-Positive Survey Results: Members discussed findings from a nationwide survey conducted by NewSTEPs, which supports state NBS programs through data collection, technical assistance, and quality improvement. The survey explored trends and challenges associated with false-positive results and their impact on families and follow-up programs.
- Subcommittee and Workgroup Updates: The Committee received updates from the New Disorders Subcommittee and the Condition Counting and Naming Workgroup, followed by lively discussion on emerging disorders, program readiness, and terminology.
Dr. Orsini’s leadership and participation ensure that New York State continues to play a leading role in shaping national newborn screening policy, improving program quality, and advancing best practices that protect the health of newborns nationwide.