#USA #healthcare #Bethesda #ACMG #newborn screening

ACMG Establishes Newborn Screening Coalition

The American College of Medical Genetics and Genomics (ACMG) has taken a significant step by announcing the formation of a Newborn Screening Coalition, which seeks to build on the organization’s longstanding dedication to enhance newborn screening processes across the nation. The decision, approved by the Board of Directors on September 29, 2025, emerges as a response to the recent dissolution of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), previously overseen by the Health Resources and Services Administration (HRSA).

In April 2025, the ACHDNC was unwound, creating a gap in the oversight and evaluation of genetic and congenital disorders that newborn screening addresses. Dr. Mira B. Irons, the current president of ACMG, highlighted the necessity for maintaining high standards in the evaluation process. Consequently, she convened a Taskforce made up of ACMG members to ensure a seamless transition of national oversight of the Recommended Uniform Screening Panel (RUSP).

The coalition's foundation rests on an extensive engagement with the newborn screening community. To kick off the process, the Taskforce, headed by Dr. Cynthia Powell, organized a roundtable discussion that attracted participation from over 120 stakeholders. This helped gather essential feedback, which strongly advocated for establishing the Newborn Screening Coalition.

Dr. Irons emphasized that the ACMG has been at the forefront of promoting newborn screening since its inception. “This coalition will uphold the standards of evidence-based review and transparency that families, clinicians, and policymakers expect,” she stated, assuring that this initiative would ensure ongoing progress in enhancing newborn detection and treatment.

The Newborn Screening Coalition aims to carry out several critical functions, including:

• - Advising the public and newborn screening programs regarding conditions that could be included on the RUSP.
• - Conducting evidence-based reviews of nominated conditions while ensuring public commentary prior to the coalition’s evaluation.
• - Publishing comprehensive recommendations, including the rationale behind both affirmative and negative voting outcomes.
• - Promoting collaboration among medical professionals, laboratories, and public health communities to enhance the equity and readiness of state newborn screening programs.

The coalition's framework will consist of 15 voting members who will represent a spectrum of professionals from the medical, laboratory, public health, and patient advocacy sectors. In the near future, ACMG plans to reach out to select organizations to nominate representatives for the coalition.

By managing the coalition, the ACMG is committed to ensuring the continuity of evidence-based reviews and decision-making processes, especially following the absence of a federal advisory body. An extensive business plan aimed at guaranteeing the coalition’s long-term sustainability is currently being developed, set to collaborate with the ACMG Foundation for Genetic and Genomic Medicine. The coalition's launch is anticipated in the first quarter of 2026.

As Dr. Powell noted, families and healthcare providers profoundly rely on timely and scientifically sound recommendations. “This Coalition will provide a transparent, collaborative, and credible pathway to advance that essential work,” she remarked.

The establishment of the Newborn Screening Coalition represents a pivotal move to ensure that the best scientific practices continue to guide newborn health initiatives, preserving the invaluable contributions to medical genetics and genomics that the ACMG has championed since its founding in 1991. As a preeminent authority in this field, ACMG aims to deliver robust resources to improve personal and public health through genetic screening advancements.

For more information about the ACMG and its initiatives, you can visit their official website at acmg.net. Through dedication and community engagement, the Newborn Screening Coalition seeks to drive a transformative change in how newborn health is approached nationwide.