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

Approximately one-half of all rare diseases affect children

Washington, D.C.—U.S. Senators Susan Collins (R-ME), Doug Jones (D-AL), Martha McSally (R-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.”

“Whole Genome Sequencing has been a groundbreaking development for Americans with undiagnosed conditions and rare diseases,” said Senator Jones.  “Expanding children’s access to these services will save lives and provide hope to families through improved diagnostic and treatment options.”

“So many Americans know too well the growing anxiety that comes with not knowing what is causing an illness,” said Senator McSally. “We can only imagine what could be going through the minds of parents whose children have a rare disease that is difficult to diagnose. That’s why I’m introducing this bipartisan bill which will shorten the time it takes doctors to pinpoint the root cause of rare diseases and better target treatments for these children.”

“When a child falls ill, all a parent wants is to be able to help them get better. For some families the search for an answer can be an excruciating wait full of tests, procedures, and inconclusive results,” said Senator Menendez. “I’m proud that this legislation will nationalize New Jersey’s model and help kids on Medicaid access an additional tool to get to a diagnosis and hopefully treatment, a little quicker.”

“Whole Genome Sequencing has changed the lives of those with genetic conditions, like Alström Syndrome, by enabling earlier and more accurate diagnoses, fostering more timely and appropriate medical care, and unlocking a host of social services to combat the educational and psycho-social complications that our children confront,” said Robin Marshall, Executive Director of the Alström Syndrome International in Mount Desert Island, Maine.  “That anyone would be denied access to WGS, particularly children on Medicaid suspected to have genetic conditions like Alström Syndrome, is unfathomable.”

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, Alström Syndrome International, Epilepsy Foundation, and the Asthma and Allergy Foundation of America.

Click HERE to read the text of the bill.