Health and Human Services Secretary Robert F. Kennedy Jr. has pledged in office to make Americans healthier, with a specific focus on reducing health burdens among children. But his department this month quietly eliminated an advisory committee on genetic disorders in newborns and kids.
For the last 15 years, the central role of the Advisory Committee on Heritable Disorders in Newborns and Children was to make recommendations to the health and human services secretary about which conditions to include on a universal screening panel for newborns.
Though Kennedy has been focused on identifying the origins of more pervasive childhood diseases like autism, asthma and obesity, rare diseases are collectively a large public health concern. Around 15 million children in the United States have rare diseases, most of which are genetic.
Newborn screenings identify around 14,000 babies every year who have potentially life-threatening or life-altering conditions, according to the National Organization for Rare Disorders (NORD). Getting a diagnosis around the time of a child’s birth gives parents a valuable window to seek treatment, which is usually most effective before symptoms set in.
It’s up to states to decide which conditions to test for, but most follow the federal government’s Recommended Uniform Screening Panel, which suggests looking for 38 conditions, including cystic fibrosis and Pompe disease, a disorder that causes muscle weakness. The screening panel is largely shaped by recommendations from the advisory committee’s volunteer scientists and medical experts.
The committee has “gone a long way in helping to ensure that newborns across the country, regardless of where they’re born, are screened for these certain conditions,” said Allison Herrity, a senior policy analyst at NORD.
According to an internal HHS email reviewed by NBC News, the committee was terminated, without explanation, on April 3. It had been scheduled to meet next month to discuss adding two conditions to the RUSP: metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD). Herrity said there had been an expectation that one or both conditions would be added.
“To have that wither on the vine because the committee has been dissolved is just sad and frightening,” said Dr. Shawn McCandless, head of genetics and metabolism at Children’s Hospital Colorado, who has served on the committee in the past.
A spokesperson for the Department of Health and Human Services said the department is complying with President Donald Trump’s executive order to reduce the size of the federal government.
NORD estimates that up to 450 babies are born with MLD or DMD every year.
DMD, a genetic disorder that affects mostly boys, causes muscles to degenerate and weaken over time. Patients usually must use wheelchairs and die of respiratory or heart failure. MLD causes a decline in mental and motor functions, meaning patients often lose the capacity to eat, speak or swallow. Many die from secondary infections.
“What characterizes both of them, as well as many of the conditions that we identify through newborn screening, is a period of a relatively healthy baby — which makes it harder to diagnose clinically, but also it’s just that window of opportunity to give effective treatment,” McCandless said.
Both disorders have treatments that may extend a child’s life or improve its quality, one of the main factors that determines whether screening would be useful. The Food and Drug Administration approved a gene therapy (which modifies the genes causing a person’s illness) for Duchenne muscular dystrophy in 2023 and for metachromatic leukodystrophy in 2024.
But with the advisory committee gone, there is little chance the conditions will be added to the universal panel. Only two states, Illinois and New York, screen newborns for MLD. And two more states, Minnesota and Ohio, screen for DMD.
Jennifer McNary, whose son Austin died of DMD in February, called the decision to terminate the committee just before the vote “super disappointing.”
“It has been so long coming,” she said. “It’s been so many pilot studies and so much money spent.”
McNary knows firsthand about the benefits of an early diagnosis. Austin was diagnosed at age 3, when he was already having trouble walking. He died at age 26. Her second son, Max, was diagnosed with DMD at birth, allowing him to receive physical therapy and steroids for his muscles earlier in the course of his disease.
That early diagnosis and treatment likely improved his quality of life, McNary said. Max was better able to tolerate gene therapy and walked until he was 17, she said, whereas Austin stopped walking at age 10. At age 23, Max uses a wheelchair and needs help getting in and out of bed, but he lives semi-independently and goes out with friends, McNary said.
Doctors and advocates say it is not just screenings for MLD or DMD that are at stake now — the future of universal screening is also in jeopardy. Not all states have the resources to review evidence that could support screening for new conditions, Herrity said. Advocates fear a return to a patchwork system in which states with more money or political will offer comprehensive screenings and others do not.
McCandless said having an independent body make recommendations also reduces the odds that advocacy groups or pharmaceutical companies will have an outsize influence on which conditions are evaluated or prioritized.
“The committee has created a rational and scientific approach to adding conditions based on evidence, not just based on passionate advocacy,” he said.
It has also helped re-examine whether screening recommendations reflect the latest scientific knowledge. Ten years ago, the committee helped change the federal recommendations for tyrosinemia type I, a metabolic disorder that can be treated with a pill, allowing some patients to live normally. At the time, states were missing the majority of cases by screening for tyrosine, a protein in the blood. The committee recognized the need to look for a different chemical, McCandless said, and the disorder is now widely picked up by screening.
McCandless and a dozen other doctors who treat rare disorders sent a letter this month urging Kennedy to reinstate the advisory committee, saying it “aligns with your vision for a healthier America.”
But some advocates, like McNary, hope for even more.
“Can we improve the process a bit, make it easier to add conditions at the same speed at which we’re getting approved drugs?” she said. “Maybe we can turn this into a positive and the administration could get a win by making something better.”