Today, Rep. Scott Peters (CA-52) and Rep. John Shimkus (IL-15) introduced the bipartisan Ending the Diagnostic Odyssey Act to provide federal support for the use of whole genome sequencing to diagnose children who are ill. The bill would create a pilot program to cover 75 percent of the costs of a child’s whole genome sequencing through Medicaid for the first three years, incentivizing states to cover the remaining 25 percent. This investment in diagnosing illnesses more directly and quickly will reduce medical costs in the long run.

Whole genome sequencing is a cost-effective diagnostic tool that uses DNA to uncover thousands of conditions including neurologic, metabolic, and other inherited diseases. It can ensure children receive appropriate treatment as fast as possible and potentially save lives when traditional diagnostics fail to pinpoint a condition. The bill is supported by Rady Children’s Hospital in San Diego, one of the largest children’s hospitals in the United States and a leader in precision pediatric care at their Institute for Genomic Medicine. The bill is also sponsored by Rep. Juan Vargas (CA-51).

“San Diego is home to innovation in genomics that helps diagnose and treat some of the world’s most pressing diseases. 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. Whole genome sequencing will allow doctors to better target treatments and improve children’s lives,” said Rep. Peters.

“Emerging diagnostic technology has the potential to ensure no child or family is forced to endure endless rounds of sometimes painful and risky tests, which too often yield no answers as to why a child is sick,” said Rep. Shimkus. “Identifying the root genetic causes of disease and the promise of precision medicine are the future of health care in the United States, and this legislation will help expedite the broad use of whole genome sequencing technology.” 

“We are enormously grateful to Congressmen Scott Peters and John Shimkus for championing this important bill to provide answers and hope to families with children suffering from undiagnosed rare disease,” said Patrick Frias, MD, President and CEO of Rady Children’s Hospital-San Diego. “It is our belief that rapid whole genome sequencing should be available at hospitals nationwide for these critically ill infants and children.”

“We’ve seen the power of rapid whole genome sequencing to save lives and prevent suffering in the youngest, most fragile patients in intensive care. By quickly pinpointing the cause of rare genetic diseases, doctors can prevent unneeded tests or surgeries, shorten hospital stays, and reduce medical costs,”  said Stephen Kingsmore, MD, DSc, President and CEO of Rady Children’s Institute for Genomic Medicine. “Our hope is that this legislation opens the door to find answers to medical mysteries so that all children and families who need it can have access to this life-changing genomic medicine.”

“In the world of medicine, it takes bold, innovative approaches to save lives. With the Ending the Diagnostic Odyssey Act, we have the potential to help save children from lifetimes of suffering by federally supporting whole genome sequencing in diagnostics. I applaud Reps. Scott Peters and John Shimkus for their leadership on this critically important issue,” said Rep. Vargas.