News and Insights

Newborn Screening Deserves More Support – A Call to Action for Pharmaceutical and Biotechnology Companies

June 13, 2025

Early diagnosis, especially for children, has long been a critical issue. But the government’s disbandment of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) in April raises significant concerns about the future of newborn screening in the U.S., despite the administration’s public claims that they are working to improve Americans’ health.

Benjamin Franklin said, “An ounce of prevention is worth a pound of cure.” Although this well-known proverb dates back to the formation of the United States, it is an especially important one to keep in mind just now. With the elimination of the ACHDNC, it’s time for pharmaceutical and biotechnology industry leaders to heed history and take action by supporting newborn screening as a key preventive program, one which provides the “ounce of prevention” that will save lives.

At the World Orphan Drug Congress USA this past April, four moms led an impassioned panel discussion on newborn screening: Katheryn Alexander, Lesa Brackbill, Christina M. Harman, and Jennifer McNary. The inspirational panelists outlined the void left by the disbandment of the committee, which effectively eliminated support for early identification and intervention for many rare diseases, such as Type 1 spinal muscular atrophy (SMA). The loss of the ACHDNC also leaves no identified pathway to add more conditions, such as metachromatic leukodystrophy (MLD), to the health secretary’s Recommended Uniform Screening Panel. The panel demonstrated that affected families will lose their quality of life, and at worst, will suffer preventable deaths.

Pharmaceutical and biotech companies have a long history of supporting diagnostic and screening tests for obvious reasons. Diagnosis is a prerequisite for treatment and enrolling in clinical trials to identify new treatments. Without the ACHDNC, the path forward for newborn testing is left without a north star. Industry leaders have an unmatched opportunity, not only to call for reinstatement of the committee, but also to step in and champion screening efforts that ensure that our most vulnerable populations are healthy and thriving through long-term, sustained investments.

Specific challenges remain unresolved, which pharmaceutical and biotech experts will need to address. These include:

• State screening variances: Each state manages its own screening program, so there can be substantial differences depending on where you live. States have unique, legally required lists of conditions which must be tested for, and they vary widely. California screens for 75 conditions. Massachusetts screens for 66. However, Georgia, only screens for 37. Not only do the mandated screenings differ by state, testing methodologies also differ. Some states use a one-screen model; others use a two-screen model, with the second screen occurring at a health provider’s office. These variances have meant that the ability of children with rare diseases to obtain a diagnosis so that they can begin treatment – hopefully early enough to avoid the risk of severe health deficits due to their disease – is determined by their zip code. Industry leaders have another opportunity: to step in and support standardization, as one’s geography should not dictate access to timely diagnosis and effective treatment.
• Parental choice: While all states have a requirement for newborn screening, some allow parents to opt out. New parents may not understand the need for testing, particularly as this is done in the first few days after birth, often a very stressful time when information absorption and informed consent may be more challenging to obtain. Industry can help support obstetrician education and engagement through the American College of Obstetricians and Gynecologists (ACOG) to ensure that parents are educated well ahead of delivery and that consent for testing is standardized and completed before a baby is born, not after when parents are exhausted and focused on bonding with their newborn.
• Expanding conditions for screening: Now that ACHDNC has been disbanded, there is no path forward for adding conditions to the 38 core conditions and 26 secondary conditions currently on the health secretary’s Recommended Uniform Screening Panel. There should be many more; industry, patient advocacy organizations, and states that are now left without direction must forge a path forward together for evaluating evidence to increase the number of conditions being screened.

Fast approaching, BIO 2025 provides an opportunity for the biotech and pharmaceutical industry to discuss this challenge with patient advocacy groups and explore how they might stand together to support reinstating the ACHDNC and also expand and standardize newborn screening. Infants and their families in this country deserve to be healthy. It’s not just good medicine; it’s good business.