A Lifesaving Legacy, Now on Hold: The Quiet Dismantling of a Critical Lifeline for America’s Babies.

First — you need to know that newborn screening (NBS) is considered one of the “Ten Great Public Health Achievements” in the first decade of the 21st century (2001–2011), and it only takes a few drops of blood.

A healthcare worker collects a few drops of blood from a pinprick to a newborn’s heel for use in a test to screen the baby for an inherited disorder. — Image: U.S. Air Force photo/Staff Sgt Eric T. Sheler — USAF Photographic Archives

“Improvements in technology and endorsement of a uniform newborn-screening panel of diseases have led to earlier life-saving treatment and intervention for at least 3,400 additional newborns each year with selected genetic and endocrine disorders.” — CDC

So what has happened in the last week?

Well, in a move that feels more like satire than policy, the US Department of Government Efficiency (DOGE), headed by Elon Musk and Vivek Ramaswamy, terminated the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This single action has quietly and cowardly ended a critical lifeline focused on improving NBS for America’s babies.

The ACHDNC advises the Secretary of Health and Human Services (HHS) on NBS conditions, tests, technologies, policies, guidelines, and standards. Through the Recommended Uniform Screening Panel (RUSP), which currently includes 36 core disorders and 26 secondary disorders, the ACHDNC is the lifeline to ensure new diseases are added, aid clinicians and laboratorians with challenges related to the interpretation of NBS results, issues evidence-based process cost assessments (which help reduce test implementation costs).

Most critically, ACHDNC ensured stakeholders—including policymakers, state public health agencies, providers, and the public—could contribute to improving universal access to high-quality screening, diagnosis, follow-up, disease management, treatment, evaluation, and education programs, which aim to reduce or prevent the potentially devastating consequences of disabilities, life-threatening diseases, or death for newborns and children.

Without the ACHDNC, there will no longer be a mechanism to improve NBS. Everywhere you look, there are more discoveries and a lot of work yet to be done (95% of rare diseases do not have an approved treatment) — estimates predict more than 85 new gene therapies, mostly for serious and rare conditions in children, can be expected by 2032.

Why focus on the availability of treatment? Based on the influential 1968 report “Principles and Practice of Screening for Disease” by Wilson and Jungner, NBS has 10 core concepts, including that “there should be an accepted treatment for patients with recognized disease.”

So, without a functioning national advisory system, how will these discoveries and treatments make it into practice? It's hard to imagine early intervention and treatment if we don’t continuously update the process of screening for these diseases.

A glance at the improvements in the last decade shows how the ACHDNC has improved early and timely intervention for inherited disorders.

Between 2012 and 2020, the ACHDNC added several conditions to the RUSP. Note the addition of several conditions (Pompe Disease (2015), Mucopolysaccharidosis type I (MPS I) (2016), X-linked Adrenoleukodystrophy (X-ALD), Spinal muscular atrophy (SMA), and the focus on efficiency improvements to ensure timely NBS Goals (2015). — Image: Health Resources & Services Administration (HRSA).

So, why does NBS matter? NBS detects conditions that, if not treated, can cause disabilities, developmental delays, serious illness, or even death. If diagnosed early, many of these disorders can be managed successfully [and at a lower long-term cost — not only saving lives but also saving state funds] — to me, that’s public health at its finest.

Was this process always efficient? Of course not. I think many families would agree that the several years, and in some cases decades, of advocacy and the multistep process of adding a condition to the RUSP, is too long — but that’s an opportunity for reform — not an excuse to obliterate an evidence-based, transparent review process that ensures the Secretary of the HHS issues recommendations that a new condition be added to identify children, such as this one for X-ALD:

In 2016, then–Secretary of HHS Sylvia Burwell accepted the ACHDNC’s recommendation to add X-ALD to the RUSP — a decision that marked a milestone in preventing irreversible damage for children with the disease.

So, the ACHDNC integrates the advancements across precision medicine — but it takes time to bring experts, advocates, families, and politicians together.

But it is no more.

My motivation in writing this short essay has been to explore my fears, memories, and desire to ‘go out and cause some good trouble, necessary trouble,’ as a Clinical Laboratory Geneticist because this cannot go on.

So, what does this bring up for me?

Well, if you know me — you know I speak fluent TV and film references (did you know George Clooney has a Bacon number of 1?). There is nothing like my obsession with ER (although strong props to The Pitt, whose current, albeit short, run has already demonstrated itself to be something special).

Below are the OG actors of ER, including George, and Noah Wyle, who currently stars in The Pitt.

Thursday nights in the ‘90s (and early ‘00s): NBC’s “Must See TV” show — ER — Image: Hollywood Reporter

So come with me to the end of the last century circa 1998–1999….

In ER Season 5, an emotionally devastating subplot involved an exhausted mother (Joi) who brings her son (Ricky) to the ER suffering from adrenoleukodystrophy (ALD) — a brutal, degenerative disease. As an X-linked condition, X-ALD primarily affects males during childhood and adolescence. This form of X-ALD (Childhood cerebral X-ALD (C-CALD) is the most serious form of X-ALD, but if caught early, Hematopoietic stem cell transplantation (HSCT) can help slow the progression of the disease. So, if NBS had existed for X-ALD before this episode, it is possible children like Ricky would have treatment options. Still, back in the ‘90s, the series arc demonstrated how helpless clinicians felt, how desperate the family was, and how devastatingly little could be done — culminating in the death of little Ricky.

Again, the year that season aired? 1998-1999. The year ALD was added to the Recommended Uniform Screening Panel (RUSP)? 2016.

That’s a 17-year gap between when a fictionalized hospital portrayed the heartbreaking failure of our system to help a dying child… and when the US finally moved to recommend screening newborns for the very condition that would have changed that child’s fate.

I remember watching that episode, stunned. I was young and had just started my studies in molecular genetics, but the story remains lodged in my brain all these years later. When ALD was finally added to the newborn screening panel in 2016, I thought back to that mother, that hospital scene, that quiet grief.

“What we watched on one of the most popular TV series took nearly 20 years to matter in federal * policy.”

Map showing the states in the US that have initiated ALD newborn screening — ALD info (2025) NB. Not all states screen for X-ALD in 2025*

I understand why some remain “deeply concerned,” but I’m devastated.

We cannot afford to lose the very system that makes saving babies possible. The wait will cost lives. Let’s not trade evidence-based policy for silence.

It’s time to fight like hell to keep the ACHDNC (admittedly in need of reform, not obliteration).

— H

NB. (And yes, ER — like all medical dramas — gets things wrong sometimes. This isn’t the right place to discuss the issues with this and many other series, but if you want to dissect film and TV genetics portrayals over coffee, I’m game).

References:

Centers for Disease Control and Prevention (CDC) Ten great public health achievements — United States, 2001–2010. [(accessed on 5 April 2025)];Morb. Mortal. Wkly. Rep. 2011 60:619–623. Available online: https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6019a5.htm

Every Life Foundation. Newborn Screening Saves Lives. Available online: everylifefoundation.org/wp-content/uploads/2024/05/Newborn-Screening-One-pager.pdf

Oracle of Bacon. Available online: https://oracleofbacon.org/movielinks.php

Phares S, Trusheim M, Emond SK, Pearson SD. Managing the challenges of paying for gene therapy: strategies for market action and policy reform in the United States. J Comp Eff Res. 2024 Dec;13(12):e240118. doi: 10.57264/cer-2024–0118. Epub 2024 Nov 14. PMID: 39540549; PMCID: PMC11609966.

The Lancet Global Health. The landscape for rare diseases in 2024. Lancet Glob Health. 2024 Mar;12(3):e341. doi: 10.1016/S2214–109X(24)00056–1. PMID: 38365397.

Images:

ALD info ALD newborn screening. https://adrenoleukodystrophy.info/clinical-diagnosis/ald-newborn-screening

NBS Blood Spot: U.S. Air Force photo/Staff Sgt Eric T. Sheler — USAF Photographic Archives https://www.nih.gov/news-events/news-releases/screening-newborns-deadly-immune-disease-saves-lives

ER season 1: https://www.hollywoodreporter.com/tv/tv-news/greys-anatomy-beats-er-george-clooney-noah-wyle-julianna-marguiles-weigh-1189213/