Legislation to Help Diagnose Children with Rare Diseases Introduced by Senators Collins, Kelly, and Menendez

Washington, D.C.—U.S. Senators Susan Collins (R-ME), Mark Kelly (D-AZ), and Bob Menendez (D-NJ) introduced bipartisan legislation to help thousands of children with rare diseases receive a diagnosis and proper treatment more quickly.

Children with rare diseases face a “diagnostic odyssey” that typically lasts five to seven years and entails seeing an average of seven different physicians.  Tragically, 30 percent of these children do not survive beyond the age of five years old. 

The Ending the Diagnostic Odyssey Act would help provide relief to these children and their parents by allowing states to conduct Whole Genome Sequencing (WGS) services for children on Medicaid with a disease suspected to have a genetic cause.  Under the three-year pilot program, the federal medical assistance percentage (FMAP) would be 75 percent.  WGS is the most robust genetic test available and the only test that can detect nearly all types of genetic variants. 

“For parents of children with an undiagnosed illness, answers cannot come soon enough.  The wait to find a cause – never mind a cure – can be excruciating. Parents try to project a calm and reassuring presence for their child while facing a whirlwind of doctor appointments, hospital visits, and unanswered questions,” said Senator Collins.  “By giving states an incentive to provide whole genome sequencing for eligible children through Medicaid, our bipartisan legislation will ensure that more children and their families can obtain the right diagnosis and treatment from the start.”

“As a dad, I am proud to support this bipartisan legislation to get families answers when facing a health care crisis with a child,” said Senator Mark Kelly. “By incentivizing states to provide whole genome sequencing for children receiving care through Medicaid, we can make sure that families don’t face unnecessary delays in getting a diagnosis and ultimately the care they need.”

“The Ending the Diagnostic Odyssey Act will follow New Jersey’s lead on a national level to expedite diagnosis and treatment for kids with rare diseases who are on Medicaid,” said Sen. Menendez.  “Unfortunately, too many families have to endure exhaustive searches and excruciatingly long waits for test results, procedures, and inconclusive results.  Our bill will streamline that process so parents can get their children the help and treatment they need to survive and thrive.”     

"As the mother of two kids who experienced the diagnostic odyssey, I know the anguish felt by parents as they wait for a diagnosis,” said Sharon Terry, president and chief executive officer, Genetic Alliance.  “Thanks to advances in genomic sequencing, we now can diagnose rare genetic diseases in days, instead of months or years, saving lives and saving money. I applaud Senators Collins, Kelly and Menendez for their commitment to expanding access to whole genome sequencing tests for all families."

There are approximately 7,000 rare diseases known today. Approximately 80 percent of rare diseases are genetic, and about one-half of all rare diseases affect children.

The Ending the Diagnostic Odyssey Act is supported by more than 100 patient advocacy organizations, including the Genetic Alliance, the Parent Project Muscular Dystrophy, Tuberous Sclerosis Alliance, Alstr??span> Syndrome International, Epilepsy Foundation, and the Asthma and Allergy Foundation of America.

Click HERE to read the text of the bill.

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