After sweeping cuts to US federal health agencies, the elimination of a committee responsible for recommending newborn screening regulations is raising alarms across the healthcare and rare disease communities.
The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), a federally appointed body under the US Health Resources and Services Administration (HRSA), was officially terminated in April. This was announced just weeks before a pivotal meeting had been set for 8 May to determine whether two additional rare conditions—metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD)—would be added to the national newborn screening recommendations.
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For nearly two decades, the ACHDNC played a role in shaping the Recommended Uniform Screening Panel (RUSP), a standardised list of conditions recommended by the Department of Health and Human Services (HHS) for inclusion in state-run universal newborn screening programmes. Its work has ensured timely diagnoses and early interventions for thousands of infants born with rare but treatable conditions, says Dylan Simon, senior director of policy at the nonprofit organisation EveryLife Foundation for Rare Diseases.
The disbandment came amid broader structural overhauls at the HHS. The US Centers for Disease Control and Prevention (CDC) has claimed that these cuts are in service of its “core mission” of combating chronic disease and epidemics.
“The sudden termination of the ACHDNC raises serious concerns for the rare disease community and families nationwide,” says Pamela Gavin, CEO of the National Organization for Rare Disorders (NORD). “Without this expert oversight, we risk delays in diagnosis and treatment that could save children’s lives and improve health outcomes,” Gavin adds.
Each year, newborn screening identifies approximately 14,000 babies with serious, often life-threatening conditions. While every US state maintains its own screening program, the number of conditions being screened varies widely. The ACHDNC helped bring a level of national consistency, offering scientific guidance and ethical oversight.
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By GlobalDataNow, stakeholders are questioning what mechanisms, if any, will replace the ACHDNC’s essential functions. NORD, alongside its 40 affiliated Rare Disease Centers of Excellence, has formally requested that HHS Secretary Robert F Kennedy Jr. reinstate the committee, emphasising the harm that could result from prolonged disruption to the RUSP nomination and review process.
Reason for disbandment
According to Paul Melmeyer, vice president of public policy and advocacy at the Muscular Dystrophy Association (MDA), the ACHDNC appears to have been eliminated as part of a broader, agency-wide reduction in advisory committees.
“It’s a federal advisory committee. So, these are volunteers who are within the committee. They’re not government employees, for the most part,” says Melmeyer. “These volunteers tend to be experts in newborn screening and heritable disorders,” Melmeyer adds.
“What we did see as part of this administration’s efforts to reshape, especially the Department of Health and Human Services, is a fairly widespread elimination of advisory committees in general, and it’s our belief that the ACHDNC was swept up in that effort…We’re hopeful that this may be one of those situations in which the [HHS] Secretary may, after hearing our arguments for the necessity [of the committee], choose to bring it back,” Melmeyer says.
Immediate consequences
While the RUSP still exists, the process to add new conditions to the list of recommended conditions has been significantly disrupted. The cancellation of the 8 May meeting has created immediate setbacks for advocacy groups working to include MLD and DMD in federal screening recommendations.
“The RUSP still does exist, which is important to note, but it is now very murky in terms of how to add conditions to the RUSP,” says Melmeyer. “In the short term, that’s a big challenge. There is no alternative process that is delineated necessarily for us to go through,” he adds.
Although the HHS Secretary retains the authority to add conditions directly to the RUSP, the lack of a defined, evidence-based review process has left stakeholders uncertain about how to proceed. “We’re working with both communities [MLD and DMD] to appeal to Secretary Kennedy to ensure the fact that those conditions are reviewed for possible addition to the RUSP,” says Simon.
Next steps for stakeholders
In the absence of the ACHDNC, advocacy efforts are now focused on directly engaging with Kennedy and ensuring that the evidence packages for MLD and DMD are reviewed at the federal level. Some organisations are also shifting their strategy to the state level.
“There are already four states that have DMD on their newborn screening state panels, two of which are actively screening right now—Minnesota and Ohio,” says Melmeyer.
“Even if we are at a standstill at the federal level, we’ll still be making progress in the states,” Melmeyer says.
Long-term outlook and legislative efforts
The rare disease and public health communities are organising in order to request the reinstatement of the ACHDNC, and are looking toward congressional action through the Newborn Screening Saves Lives Reauthorization Act.
“The entire rare disease ecosystem, frankly, is very unhappy that the ACHDNC had been terminated,” says Melmeyer.
Such efforts are taking place as broader discussions about modernising the screening process are already underway. The National Academies of Sciences, Engineering, and Medicine (NASEM) recently published a report addressing how to adapt newborn screening to evolving scientific and therapeutic developments, including the rise of cell and gene therapies. “There was some of the ACHDNC that was not perfect, and passing a bill through Congress will provide the opportunity to make larger scale changes to the newborn screening system that are needed,” says Simon.
Future of rare disease policy
Beyond the termination of ACHDNC, additional developments have sparked concern among stakeholders, including the expiration of the Priority Review Voucher program for paediatric rare diseases. The program, which was designed to incentivise the development of rare paediatric therapies, lapsed in December 2024 after Congress failed to renew it. This creates uncertainty for rare disease drug developers, as companies and investors may hold back without clear incentives.
However, Melmeyer remains cautiously optimistic about future policy direction in the US, pointing to recent comments from FDA Commissioner Marty Makary, who suggested that the agency may open a new regulatory pathway for rare diseases.
Speaking on The Megyn Kelly Show in April, Makary said the new regulatory pathway would be based on what he called a “plausible mechanism,” focusing mainly on rare or incurable diseases that affect “a small number of people.”
“We’re hopeful that rare diseases will be a priority for the administration,” says Melmeyer.
“There have been a number of decisions from this administration…that we do believe can be harmful to the rare disease community…[but] we’re hopeful that…in better communicating and better working with this administration…we can turn things around,” Melmeyer notes.
