NKH Research Update: Newborn Screening Development 🧬

We want to share an important newborn screening research development happening in the United States.

BEACONS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening) is an NIH-funded pilot study exploring whether genome sequencing can be responsibly added to standard newborn screening programs across the U.S.

The project is led by Mass General Brigham and Ariadne Labs, in collaboration with:

• Boston Children’s Hospital

• Albert Einstein College of Medicine

• Association of Public Health Laboratories (APHL)

• Case Western Reserve University

• Baylor College of Medicine

• Sequencing partners GeneDx and Illumina

Why This Matters

Currently, for a condition to be added to the official U.S. newborn screening panel (the RUSP), there must be an actionable — often FDA-approved — treatment available.

BEACONS is studying whether genome sequencing could expand screening to hundreds of additional rare, medically treatable genetic conditions, especially where early detection in infancy could meaningfully change outcomes.

The Newborn Screening will enroll newborns in:

• Iowa

• Minnesota

• New York

• Oregon

• Puerto Rico

• South Carolina

• Texas

What This Means for NKH

Out of 777 conditions selected (from an estimated 7,000–10,000 rare diseases), GLDC-mediated NKH has been included.

This is a significant recognition for our community.

NKH Crusaders is actively reaching out to explore the possibility of including AMT-mediated NKH as well.

Newborn screening has the potential to:

• Reduce the diagnostic odyssey for families

• Allow earlier intervention

• Improve long-term outcomes

• Change the trajectory for future children diagnosed with NKH

This is a meaningful step forward. We will continue to advocate, engage, and keep our community informed as this progresses. 💙💛