Despite Robert F. Kennedy Jr.’s pledge to “Make America Healthy Again,” the Department of Health and Human Services has abruptly axed an advisory committee responsible for recommending which genetic disorders should be included in newborn health screenings.
According to an internal HHS email reviewed by NBC News, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was terminated, without explanation, on April 3.
Established in 2003, the committee consisted of public health officials, scientists and medical experts who provided recommendations to the secretary about which conditions to include on a universal screening panel for newborns, known as the Recommended Uniform Screening Panel (RUSP). That panel, which currently suggests screening for 38 conditions, is used by most states, although each state has the final say on which disorders it tests for.
The ACHDNC is able to use the latest scientific data to help fill in gaps sometimes left by state officials, as NBC News reports:
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.
Not all states have sufficient resources to review evidence to determine how best to screen for new conditions. Advocates worry that without the committee, the U.S. could return to a patchwork system in which states with more money offer more comprehensive screenings than poorer states.
A HHS spokesperson told NBC News the committee was cut in the department’s effort to comply with President Donald Trump’s executive order to reduce the size of the federal government.
In a statement, the National Organization for Rare Disorders (NORD) said the “sudden termination” of the committee “raises serious concerns for the rare disease community and families nationwide.”
Newborn screenings identify potentially life-threatening or life-altering conditions for around 14,000 babies every year, according to NORD. The earlier families can get a diagnosis, the more likely it is that treatment will be successful.
“Without this expert oversight, we risk delays in diagnosis and treatment that could save children’s lives and improve health outcomes for children and families,” wrote Pamela Gavin, NORD’s chief executive officer.
Even before his time as head of the HHS, Kennedy expressed concern for the health of American children, especially for childhood diseases like autism, asthma and obesity. On Wednesday, he announced HHS would conduct a series of studies aimed at identifying “environmental toxins” that he claims are responsible for the rise in autism rates in children in the U.S. Despite evidence that suggests there isn’t one singular cause of autism, Kennedy has vowed his agency will uncover an underlying reason by September.
The committee’s termination came just weeks ahead of a meeting to discuss whether to add two new conditions to the RUSP: metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD). Both disorders have therapies recently approved by the Food and Drug Administration, meaning that newborn screening could provide a better window of opportunity for doctors to identify the conditions and provide treatment. Without this expert oversight, we risk delays in diagnosis and treatment that could save children’s lives and improve health outcomes for children and families. However, with the advisory committee gone, it’s unlikely those conditions will be added to the screening panel. Only two states, Illinois and New York, currently screen newborns for MLD; Minnesota and Ohio are the only states that screen for DMD. Jennifer McNary — whose son Austin died in February of DMD, a genetic disorder that causes muscles to degenerate and weaken over time — told NBC News the department’s decision to terminate the committee before the vote was “super disappointing.” “It has been so long coming,” McNary said. “It’s been so many pilot studies and so much money spent.” The committee’s termination came just weeks ahead of a meeting to discuss whether to add two new conditions to the RUSP: metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD). Both disorders have therapies recently approved by the Food and Drug Administration, meaning that newborn screening could provide a better window of opportunity for doctors to identify the conditions and provide treatment.
Allison Detzel is an editor/producer for MS NOW.
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