As Newborn Screening Awareness Month concludes, IGT applauds the tireless work of advocates who dedicate themselves 365 days of the year to ensuring this valuable program fulfills its mission to improve and save lives.
As IGT Patient Advocacy Advisory Committee members, rare disease advocacy organizations, and policymakers attest, identifying rare genetic conditions before they become observable to parents or clinicians has innumerable benefits, including:
Enabling immediate treatment, which helps prevent severe complications and reduces irreversible disease progression.
Empowering families to make informed decisions about necessary care for their child and supporting future reproductive decision-making.
Reducing long-term health care costs and contributing data to research and policymaking.
Assessing the pace of progress
It’s been 20 years since the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) held its first meeting. The ACHDNC was formed to make federal recommendations for which conditions the states should screen all babies for at birth. That list, known as the Recommended Uniform Screening Panel (RUSP), now includes 38 conditions.
Yet there’s consensus the pace of progress in newborn screening lags advances in treatments for genetic conditions. Among cell and gene therapies alone, approximately 2,500 investigational new drug applications are currently under review at FDA and the agency is approving about five gene therapies every year, most of which are for rare diseases.
In contrast, since the ACHDNC review process for adding conditions to the RUSP officially began, only nine conditions have been added. That’s an average of just one every two years. Today, it takes nearly six years on average from the time the original nomination is submitted for a new condition to be added to the RUSP.
During EveryLife Foundation for Rare Disease’s recent Rare Disease Congressional Caucus briefing, Amy Gaviglio, MS, CGC, an expert in public health genetics and genomics, observed that our collective capacity to screen newborns has been historically limited by the technologies available to us. Today, however, not only have those limitations been lifted, but the speed of cell and gene therapy development is now driving the need to accelerate the expansion of newborn screening.
At the same briefing, Senator Amy Klobuchar (D-MN) shared her own family’s experience with the diagnostic odyssey and noted: “We all know that early detection and diagnosis can be the difference between a child being subject to years of unnecessary tests searching for answers and getting the evidence-based care that they need.”
Modernizing the newborn screening program
Earlier this year, IGT joined others in the rare disease community in responding to the Health Resources and Services Administration’s RFI on the nomination and review process of the ACHDNC. We called for HRSA to keep pace with innovation in genomic medicine because a failure to do so will limit the delivery of transformative treatments to patients in ways that ensure maximum benefit.
The RFI followed the late 2023 publication of EveryLife Foundation’s report Pioneering the New Era of Newborn Screening, which features several commonsense recommendations from a wide array of stakeholders for modernizing the program.
In short, more babies with genetic conditions can – and should – be diagnosed and treated sooner. To achieve this important objective IGT advocates for:
Expanding the RUSP to include all childhood onset diseases that can be identified at birth and have existing FDA-approved treatments for the pediatric population.
Aligning state and federal policies to make screening more comprehensive.
Collaborating with Congress to support public-private partnerships, streamlining the RUSP process, and allocating more funding to help states comply with screening recommendations.
These changes are needed urgently to better serve patients and families. With over 10,000 rare diseases, it’s clear the newborn screening program could be doing so much more. Countless patients and families face long diagnostic journeys filled with frustrating uncertainty, endless appointments, unaffordable copays and other barriers to needed care and treatment.
We can and must do better.
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