The Genomic Answers for Children’s Health Act aims to clarify access to whole genome and whole exome sequencing for children with suspected rare diseases.
A bipartisan group of House representatives introduced legislation that would ensure Medicaid coverage for genomic sequencing in children with suspected rare diseases or genetic disorders.
The Genomic Answers for Children’s Health Act, introduced by Representatives Scott Peters (D-CA), Gus Bilirakis (R-FL), and six other lawmakers, would clarify that children enrolled in Medicaid can access whole genome sequencing and whole exome sequencing as diagnostic tools under the program’s Early and Periodic Screening, Diagnostic, and Treatment benefit.
The legislation was inspired by Project Baby Bear, a study conducted by Rady Children’s Hospital in San Diego from 2018 to 2020. The study found that rapid diagnostic genomic testing can save lives and thousands of dollars in unnecessary healthcare costs per patient by helping clinicians treat patients more quickly. The project’s success led to similar pilot programs in Florida (Project Baby Manatee), Michigan (Project Baby Deer), and Wisconsin (Project Baby Badger).
“It’s hard enough for parents and families to face an unknown medical future for a young child, and they should have access to every available diagnostic tool,” says Rep Peters in a release. “Medicaid coverage for whole genome sequencing will allow doctors to better target treatments and improve children’s lives.”
Addressing the Diagnostic Odyssey
More than 30 million Americans live with a rare disease, and over half are children. For many families, the search for a diagnosis can take four to eight years, involve multiple misdiagnoses, and cost thousands of dollars in additional healthcare expenses. Whole genome sequencing and whole exome sequencing can dramatically shorten this process and provide patients with answers in days or weeks.
“For too many families, the search for answers can take years—often involving countless tests, ongoing uncertainty, and significant emotional and financial strain,” says Rep Bilirakis in a release. “This legislation clarifies access to advanced genomic sequencing and research tools that can lead to earlier diagnoses, more targeted treatments, and better care for children with rare diseases.”
The bill would direct states to implement an inpatient diagnosis-related group add-on payment to support access in hospital settings. Studies show that genomic sequencing is both clinically effective and cost-efficient in certain cases, and major medical organizations recommend its use for pediatric patients with suspected rare diseases or undiagnosed conditions.
Industry Support
The American Clinical Laboratory Association (ACLA) endorsed the legislation, emphasizing the role of clinical laboratories in delivering genomic testing services.
“Clinical laboratories play a central role in delivering high-quality genomic testing, providing the sequencing, analysis, and interpretation that help clinicians reach accurate diagnoses and guide care,” says Susan Van Meter, president of ACLA, in a release. “By clearly recognizing whole genome and whole exome sequencing, uniquely suited for diagnosing rare diseases, as covered Medicaid services, promoting awareness, and requiring CMS to evaluate access and outcomes, this legislation would help ensure children can receive medically necessary testing without delay.”
Patrick Frias, MD, co-president and CEO of Rady Children’s Health, says the legislation addresses a critical need for swift diagnosis in critically ill children.
“The Rady Children’s Institute for Genomic Medicine has been at the forefront of eliminating the diagnostic odyssey for neonatal and pediatric rare diseases,” says Frias in a release. “We are profoundly thankful to Rep Scott Peters for his unwavering dedication to ensuring that all patients have access to this transformative diagnostic tool.”
The bill has garnered support from more than 30 organizations, including genetic testing laboratories, hospitals, rare disease advocacy groups, and professional associations. Supporting organizations include Ambry Genetics, Baylor Genetics, the National Association of Genetic Counselors, and the Michigan Hospital Association.
ID 3258788 © Kuosumo | Dreamstime.com
