Lillian Isabella , 2025-04-24 08:30:00
I got a blood test as a newborn that changed the course of my life forever. The test, part of newborn screening performed on babies across the U.S. led to my being diagnosed with a rare inherited disorder, phenylketonuria (PKU). I avoided intellectual disability and other symptoms such as seizures because of my early diagnosis and treatment. Every year, that simple heel prick blood test, along with a heart and hearing screening, helps identify about 14,000 babies in the U.S. born with a number of unique conditions. But recently, the federal government made an alarming decision that will risk the preventable death and suffering of children with rare conditions like mine: The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was terminated.
Cutting the ACHDNC, with no explanation, either demonstrates a severe lack of understanding of the function of the volunteer committee or represents a policy shift, one that deprioritizes the lives of newborns who have conditions that would be treatable with early detection. Either way, it’s a dangerous decision.
While all states have a newborn screening program, the number of conditions tested, and capacity to expand that coverage, varies greatly by state. The ACHDNC strengthened U.S. newborn screening processes on a federal level. Members reviewed challenges for state programs and gave recommendations to the secretary of the Department of Health and Human Services. The volunteer-only committee included members of the public with expertise in heritable disorders; medical, scientific, and public health experts; experts in ethics; and representatives from federal agencies, medical societies, and public health groups.
The story of newborn screening in the U.S. began with my disorder, PKU. Robert Guthrie, a microbiologist and pediatrician, devised the PKU blood test for babies in the 1960s and so launched the entire field of newborn screening. Now it’s acknowledged to be the largest and most successful disease prevention program in the U.S. Guthrie faced a lot of resistance to his work, but today as a result of his dedication about 1 in 300 babies have a condition detectable through screening.
The committee was created in 2003, and one of its top priorities was to standardize guidelines and practices for newborn screening. In 2005, the committee advocated HHS use a standardized list of serious and treatable diseases, starting with 29 core conditions. In 2008, the health secretary accepted their recommendation, which became the Recommended Uniform Screening Panel (RUSP), a guide for state public health departments. States then added more known and treatable conditions to their screening list, in effect saving lives.
Now the RUSP has evolved to include 38 core conditions, including some you have likely heard of: sickle cell disease, cystic fibrosis, critical congenital heart disease, and hearing loss. Each year the committee of experts reviewed newly nominated conditions to add to the RUSP. The approval process for adding a new disorder included detailed criteria for approval, requiring supporting references and data. The committee helped the RUSP evolve and acted as a well-resourced guiding light for state screening programs, as our scientific and medical understanding of various conditions advanced.
Without the advisory committee, we have a gaping hole where a collective of leaders once championed for newborn health. “Without this expert oversight, we risk delays in diagnosis and treatment that could save children’s lives,” CEO Pamela Gavin of the National Organization for Rare Disorders (NORD), representing more than 30 million Americans living with rare diseases, said in a statement about the committee’s termination.
NORD and its 40 affiliated Rare Disease Centers of Excellence also sent a letter to Health and Human Services Secretary Robert F. Kennedy Jr. asking for the immediate reinstatement of the committee. They write: “Not every state has the expertise to perform the careful evaluation necessary to weigh evidence for and against inclusion of additional conditions. The absence of … resources at the federal level will have negative consequences.”
The elimination of ACHDNC comes in the middle of chaotic HHS restructuring claiming to support a core mission of stopping the chronic disease epidemic. Yet this committee, which helped prevent newborn death and suffering from chronic disease, got terminated. Kennedy did tell reporters they expected to make errors: “We’re going to do 80% cuts, but 20% of those are going to have to be reinstalled because we’ll make mistakes.”
Cutting this committee was one of the mistakes. It must be reinstated.
Lillian Isabella, a playwright and producer in New York City, is a rare disease advocate. She serves on the board of directors at the National PKU Alliance.
