Representative Gus Bilirakis (R-FL) has introduced bipartisan legislation expanding children's access to genomic sequencing treatments under Medicaid.
Genomic sequencing is a method for examining a patient's full DNA or RNA sequence to detect rare diseases and genetic disorders, thereby dramatically reducing the time and cost required to diagnose such conditions accurately, often within days or weeks, compared to other methods.
According to Rep. Bilirakis's press release, approximately 30 million Americans, over half of whom are children, live with rare diseases, and accurate diagnoses can take years to develop, costing families thousands of dollars.
As a result, Rep. Bilirakis's Genomic Answers for Children's Health Act clarifies that genomic sequencing is a qualified part of Medicaid's Early and Periodic Screening, Diagnostic, and Treatment (EPSDT) system.
"The Genomic Answers for Children's Health Act takes an important step toward improving outcomes for children facing rare, complex, and often undiagnosed medical conditions," said the Florida congressman, adding, "For too many families, the search for answers can take years-often involving countless tests, ongoing uncertainty, and significant emotional and financial strain. 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. This legislation also continues important momentum started by several states, including my home state of Florida, which passed the groundbreaking Sunshine Genetics Act last year."
In November 2024, Bilirakis introduced the bipartisan Scientific External Process for Educated Review of Therapeutics (EXPERT) Act, which reduces Food and Drug Administration (FDA) red tape for the drug treatment of rare diseases, as over 90% of rare diseases lack FDA-approved treatments because FDA staff cannot adequately focus on specific illnesses. At the same time, non-FDA rare disease specialists often cannot serve on the FDA's advisory committees due to conflicts of interest.
Specifically, the bill formalized the Externally-Led Scientific-Focused Drug Development (EL-SFDD) meeting system within the FDA, wherein medical experts, drug sponsors, scientific organizations, and patient advocates meet to discuss opportunities to improve treatment development, devise new clinical trial designs, and agree on endpoints better to meet the unmet needs of rare disease patients.
