Importance Score: 78 / 100 🔴
HHS Secretary Disbands Newborn Screening Advisory Committee, Raising Concerns Over Genetic Disorder Detection
Despite his public commitment to enhancing American health, particularly for children and reducing childhood health burdens, Health and Human Services Secretary Robert F. Kennedy Jr. has overseen the quiet disbandment of a crucial advisory committee focused on genetic disorders in newborns and children. This move has sparked apprehension among health advocates as the committee played a pivotal role in recommending conditions for newborn screening.
Advisory Committee’s Vital Role in Newborn Screening
For fifteen years, the Advisory Committee on Heritable Disorders in Newborns and Children served as a central body, responsible for providing recommendations to the HHS Secretary regarding which disorders should be included in the Recommended Uniform Screening Panel (RUSP) for newborns. This panel is a key component of public health efforts aimed at early detection and intervention for serious conditions.
While Secretary Kennedy has emphasized identifying the root causes of prevalent childhood illnesses such as autism, asthma, and obesity, experts note that collectively, rare diseases pose a significant public health challenge. Approximately 15 million children in the United States are affected by rare diseases, the majority of which are genetic in origin.
According to the National Organization for Rare Disorders (NORD), newborn screenings annually identify around 14,000 infants with potentially life-threatening or life-altering conditions. Early diagnosis at birth provides parents with a critical opportunity to seek timely treatment, often most effective before symptoms manifest.
Sudden Termination Stalls Review of New Conditions Like MLD and DMD
Although states ultimately decide which conditions to screen for, most adopt the federal government’s RUSP, currently recommending screening for 38 conditions, including cystic fibrosis and Pompe disease. The advisory committee, composed of volunteer scientists and medical specialists, significantly shaped the RUSP recommendations.
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Allison Herrity, a senior policy analyst at NORD, stated that the committee has been instrumental in “helping to ensure that newborns across the country, regardless of their birthplace, are screened for these specific conditions.”
However, according to an internal HHS email reviewed by NBC News, the committee was terminated on April 3rd without any official explanation. The committee was scheduled to convene the following month to deliberate adding metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD) to the RUSP. Herrity indicated that there was a strong expectation that at least one, if not both, of these conditions would be added.
Expert and Advocate Reactions: “Sad and Frightening”
Dr. Shawn McCandless, head of genetics and metabolism at Colorado Children’s Hospital and a former committee member, expressed his dismay, stating, “To have that wither on the vine because the committee has been dissolved is just sad and frightening.”
Federal Justification: Government Size Reduction
An HHS spokesperson indicated that the department’s decision aligns with President Donald Trump’s executive order aimed at reducing the size of the federal government.
NORD estimates that approximately 450 newborns are born with MLD or DMD each year.
DMD, a genetic disorder primarily affecting boys, leads to progressive muscle degeneration and weakness. Patients typically require wheelchairs and succumb to respiratory or cardiac failure. MLD results in the deterioration of mental and motor skills, often causing patients to lose the ability to eat, speak, or swallow, with many fatalities resulting from secondary infections.
Dr. McCandless emphasized the significance of early detection for both disorders: “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.”
Crucially, both MLD and DMD have available treatments that can potentially extend a child’s life or improve their quality of life, a primary factor in determining the utility of screening. The Food and Drug Administration (FDA) approved gene therapies for DMD in 2023 and for MLD in 2024.
Broader Implications for Newborn Screening and State Resources
With the advisory committee’s dissolution, the likelihood of these conditions being added to the RUSP is diminished. Currently, only Illinois and New York mandate newborn screening for MLD, while Minnesota and Ohio screen for DMD.
Jennifer McNary, whose son Austin passed away from DMD in February, described the decision to terminate the committee just before the anticipated vote as “super disappointing.”
“It has been so long coming,” McNary stated. “It’s been so many pilot studies and so much money spent.”
McNary personally understands the advantages of early diagnosis. Austin was diagnosed with DMD at age 3, after displaying walking difficulties. He died at 26. Her younger son, Max, was diagnosed with DMD at birth, enabling him to receive physical therapy and steroid treatment early in the disease’s progression.
According to McNary, early diagnosis and intervention likely improved Max’s quality of life. Max demonstrated better tolerance to gene therapy and maintained the ability to walk until age 17, while Austin stopped walking at age 10. At 23, Max uses a wheelchair and requires assistance with some daily activities, but lives with greater independence and social engagement, McNary explained.
Medical professionals and advocates caution that the ramifications extend beyond screenings for MLD or DMD, jeopardizing the future of universal newborn screening. Herrity pointed out that not all states possess the resources to independently evaluate evidence supporting screening for new conditions. Advocates fear a regression to a fragmented system where comprehensive screenings are available only in wealthier or more politically motivated states.
Dr. McCandless emphasized that an independent advisory body ensures objectivity in recommendations, reducing the potential for undue influence from advocacy groups or pharmaceutical companies in determining which conditions are assessed and prioritized.
“The committee has created an evidence-based and systematic approach to adding conditions based on data, not solely on passionate advocacy,” he stated.
The committee has also played a crucial role in reassessing screening recommendations in light of evolving scientific understanding. A decade ago, the committee facilitated changes to federal recommendations for tyrosinemia type I, a treatable metabolic disorder, enabling patients to live typical lives. At that time, states were missing most cases by screening for tyrosine itself. The committee recognized the necessity to screen for a different marker, Dr. McCandless explained, and the disorder is now frequently detected through screening.
Call for Reinstatement and Process Improvement
Dr. McCandless and over a dozen other physicians specializing in rare disorders have sent a letter this month urging Secretary Kennedy to reinstate the advisory committee, asserting that it “aligns with your vision for a healthier America.”
However, some advocates, like McNary, are hoping for more comprehensive improvements.
Potential Opportunity for Improvement
“Can we refine the process, make it easier to add conditions at the pace of drug approvals?” McNary questioned. “Perhaps we can transform this into a positive development, and the administration could achieve a success by making improvements.”