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Legislators Introduce Bill to Increase Whole-Genome Sequencing Access for Pediatric Illnesses

NEW YORK  Representatives Scott Peters (D-CA) and John Shimkus (R-IL) have introduced the "Ending the Diagnostic Odyssey Act." 

The aim of the bill is to provide access to whole-genome sequencing for "certain undiagnosed children under the Medicaid program, and for other purposes."

"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," Peters said in a statement. 

The bill is supported by Rady Children's Hospital in San Diego, and is also sponsored by Rep. Juan Vargas (D-CA). 

"It is our belief that rapid whole genome sequencing should be available at hospitals nationwide for these critically ill infants and children," Patrick Frias, Rady Children’s Hospital-San Diego CEO, said in a statement.

The hospital is a pioneer in using rapid sequencing in the care of pediatric patients. A few years ago, Rady Children's Institute for Genomic Medicine in San Diego hired clinical genomicist Stephen Kingsmore as its first president and CEO, and subsequently launched a rapid genome sequencing test for critically ill newborns.

"By quickly pinpointing the cause of rare genetic diseases, doctors can prevent unneeded tests or surgeries, shorten hospital stays, and reduce medical costs," added Kingsmore in a statement. "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."