HHS Scraps Advisory Committee on Newborn Screening

There's big money behind newborn testing, exposed when Michigan and New York floated bills for Thalassemia and Sickle Cell Anemia testing in 2022-23. Treatment with new CRISPR gene technology then cost $2.2 Million per person.

Newborn blood spot testing, storage, and research are administered by MDHHS, which takes privacy and individual autonomy more seriously than it did before being sued in 2013.

One baby in every 450 Michigan births tests positive for a condition. Testing and treatment is covered by Medicaid and other state aid for the uninsured. 

https://www.medpagetoday.com/special-reports/features/115070

HHS Scraps Advisory Committee on Newborn Screening

— Cut comes as new conditions could have been added to a national screening panel

by Jennifer Henderson    |    April 10, 2025

As cuts sweep across federal health agencies, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) has been terminated.

Notably, the ACHDNC, which sits under the Health Resources and Services Administration, is responsible for the Recommended Uniform Screening Panel (RUSP), a standardized list of dozens of conditions the HHS secretary recommends states screen for as part of their universal newborn screening programs.

"This is an absolutely essential committee for the life of America's babies," Susan Berry, MD, professor of pediatrics in the division of genetics and metabolism at the University of Minnesota in Minneapolis, who served as a member of the ACHDNC from 2017 to 2020, told MedPage Today. "It's an incredible public health protection, and to lose it is ... heartbreaking. People are shocked and frightened by it."

If the goal is a healthy America, "you want newborn-screened babies [and] the committee is what you need for that," added Berry, who also is director of the National Organization for Rare Disorders (NORD) Rare Disease Centers of Excellence at the University of Minnesota. "We have to have that committee back. It has to be reinstated."

If no action is taken to remedy the loss of the advisory committee, some states may be able to evaluate and determine new conditions that are good candidates to be added to their newborn screening panel while others can not, Allison Herrity, senior policy analyst at NORD, told MedPage Today.

"There are often already health disparities between states that have a large amount of resources for things like this and states that don't," Herrity said. And the termination of the ACHDNC "will just exacerbate those disparities."

The termination comes about 1 month shy of an advisory committee meeting (that had already been delayed earlier this year) to decide whether two conditions -- metachromatic leukodystrophyopens in a new tab or window (MLD) and Duchenne muscular dystrophy (DMD) -- would be added to the RUSP, experts told MedPage Today.

There are new and promising gene therapies for these conditions, and their addition to the screening panel now hangs in the balance, adding to the dismay.

"It's really catastrophic ... that we would not be leveraging all of the great work done on the innovation side to keep these children from the incredible harm that they are facing, and their families," NORD CEO Pamela Gavin told MedPage Today. (Gavin previously released a public statement on the termination of the ACHDNC.)

Many who are advocating for conditions such as MLD and DMD to be added to the RUSP have been personally affected and want to spare other families from their experiences, Herrity noted.

Author and advocate Maria Kefalas, PhD, lost her daughter to MLD in 2022.

Children with MLD often present around 2 years of age, she said. They lose the ability to walk and talk within months of symptom onset, become paralyzed and feeding-tube dependent, and usually die between the ages of 6 and 10 years.

"My daughter lived until she was 12 years old," Kefalas said. "It was like ALS [amyotrophic lateral sclerosis] and Alzheimer's in a baby."

Kefalas said her daughter had more than 1,700 provider contacts in the 10 years following her diagnosis. Her daughter also was in the intensive care unit multiple times, was intubated, and experienced a C-curve in her body. "And we have the capacity to prevent that from happening," Kefalas said.

Next month, families planned to descend on Rockville, Maryland "to hear what they had been waiting for," that MLD would be added to the RUSP, Kefalas said. "And they just shut it down."

Clinicians have similarly sounded the alarm.

Mira Irons, MD, president of the American College of Medical Genetics and Genomics (ACMG), told MedPage Today in emailed remarks that the ACMG is "deeply concerned" about the termination of the ACHDNC.

"For more than two decades, this committee has played a critical role in safeguarding and advancing the nation's newborn screening system by providing evidence-based recommendations to ensure timely identification and intervention for infants with serious, often life-threatening genetic conditions," Irons said.

"The loss of this independent, expert advisory body threatens to disrupt a process that has had a profound impact on public health and the lives of countless families," Irons added. "The ACHDNC has served as a vital forum for scientific and clinical guidance and has provided a place for patient perspectives to be heard. Newborn screening programs in every state in the U.S. rely on the recommendations developed by ACHDNC."

Irons noted that ACMG developed a list of recommended conditions for newborn screening that was used to create the initial RUSP.

"ACMG remains committed to supporting a strong and effective national newborn screening system and to advocating for the infrastructure necessary to continue improving early detection and care for children with heritable disorders," she added. "We will be advocating for reinstatement of the ACHDNC and are considering ways to ensure that the valuable work of the committee is not lost in the interim."

Each year, newborn screening identifies around 14,000 babies with serious conditions, according to NORD.

The addition of MLD and DMD to the RUSP would identify an estimated 400 to 450 more infants annually that could be treated to prevent life-altering outcomes, including death, the organization contended.

Regarding the termination of the ACHDNC, HHS did not respond to request for comment.