Overview
Established in 2025, the Newborn Screening Collaborative (NBSC) is a volunteer group of patient advocacy, public health, and healthcare professionals from a broad range of medical specialties whose mission is to support and promote activities that advance universal newborn screening and enhance the ability of U.S. newborn screening programs to keep pace with technological and therapeutic advancements.
The NBSC will use transparent, evidence-based reviews of specific conditions or categories of conditions to support the public and newborn screening programs in the US in determining conditions for which every baby should be screened. The NBSC is coordinated by the American College of Medical Genetics and Genomics (ACMG) and with support by the ACMG Foundation for Genetic and Genomic Medicine (ACMGF).
Current Status
The NBSC held its most recent executive session in September 2026. Experts from across the country representing medical, laboratory, public health, and patient advocacy organizations convened virtually to continue formulation of NBSC processes and future plans, including exploring the use of custom-built AI tools for data acquisition on all genes to identify those appropriate for evidence review. The NBSC also discussed the recent Health Resources and Services Administration (HRSA) announcement about the formation of the new National Newborn Screening Workgroup in partnership with the Association of Public Health Laboratories (APHL) and how the Collaborative can work synergistically with this process moving forward. Future meetings and opportunities for public engagement will be shared as they are formulated.
Membership
NBSC Members:
Cynthia Powell, MD (Chair)
American College of Medical Genetics and Genomics (ACMG)
Amy Gaviglio, MS, CGC
National Society of Genetic Counselors (NSGC)
Debra Freedenberg, MD, PhD
American Academy of Pediatrics (AAP)
Jeffrey Botkin, MD
Expert in Bioethics and Newborn Screening
Susan Berry, MD
Society for Inherited Metabolic Disorders (SIMD)
Marybeth McAfee, MA, GC
National Organization for Rare Disorders (NORD)
Dieter Matern, MD, PhD
American College of Medical Genetics and Genomics (ACMG)
Mei Baker, MD
American College of Medical Genetics and Genomics (ACMG)
Jerry Vockley, MD, PhD (Vice Chair)
American College of Medical Genetics and Genomics (ACMG)
Susan Tanksley, PhD
Association of Public Health Laboratories (APHL)
Robert Ostrander, MD
American Academy of Family Physicians (AAFP)
Margie Ream, MD, PhD
Child Neurology Society (CNS)
Natasha Bonhomme
Expecting Health
Asha Talati, MD
American College of Obstetricians and Gynecologists (ACOG)
William Wilcox, MD, PhD
American College of Medical Genetics and Genomics (ACMG)
Administrative Support
Allison Herrity, MPH
Newborn Screening Collaborative Project Manager
[email protected]
FAQs
Q: What is the NBSC?
A: The Newborn Screening Collaborative (NBSC) is a volunteer group of patient advocacy, public health, and healthcare professionals from a broad range of medical specialties whose mission is to support and promote activities to advance universal newborn screening and enhance the ability of U.S. newborn screening programs to keep pace with technological and therapeutic advancements.
Q: Why was the NBSC established?
A: The NBSC was established in 2025 following the dissolution of the federal Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), the body that oversaw nominations to the Recommended Uniform Screening Panel (RUSP) and made recommendations to the Secretary of the Department of Health and Human Services regarding which conditions all newborns should be screened for at birth.
Q: What is the goal of the NBSC?
A: The NBSC seeks to support the U.S. newborn screening system by conducting transparent, evidence-based reviews of specific conditions or categories of conditions to assist the public and newborn screening programs in the US in determining conditions for which every baby should be screened.
Q: What is the relationship between the ACMG and the NBSC?
A: The NBSC is coordinated by the ACMG with support by the ACMGF. The ACMG provides administrative and technical support to the NBSC, but does not direct nominations, discussion, or votes.
Q: How will the recently announced HRSA process and National Newborn Screening Workgroup impact the goals and work of the NBSC?
A: The NBSC applauds HRSA for taking steps to restore a process for conditions to be considered and recommended for addition to the RUSP. We look forward to hearing additional details about the process and determining how the NBSC can work synergistically with the new process and best play a supportive role for the public and newborn screening system moving forward.
Q: Who are members of the NBSC?
A: The NBSC is made up of 15 patient advocacy, public health, and healthcare professionals from a broad range of medical specialties. Current membership can be found here.
Q: When does the NBSC meet?
A: The NBSC meets quarterly, with three virtual and one in-person meeting per year. The next NBSC meeting is an executive session scheduled for December 8, 2026.