U.S. Sen. Susan Collins (R-ME) recently proposed bipartisan legislation that would aid in the diagnosis and treatment of rare diseases in children who are on Medicaid.
Sen. Collins on Dec. 19, 2019 sponsored the Ending the Diagnostic Odyssey Act of 2019, S. 3116, to enable states to better provide access to whole genome sequencing clinical services for certain undiagnosed children under the Medicaid program, according to the text of the bill. Original cosponsors include U.S. Sens. Martha McSally (R-AZ) and Doug Jones (D-AL).
“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,” rather than face a “diagnostic odyssey” that typically lasts five to seven years, Sen. Collins said.
“For parents of children with an undiagnosed illness, answers cannot come soon enough,” she added. “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.”
If enacted, S. 3116 would authorize a three-year pilot program for states to administer whole genome sequencing, the most vigorous genetic test available and the only test able to detect nearly all types of genetic variants, according to a bill summary provided by Sen. Collins’ office.
“So many Americans know too well the growing anxiety that comes with not knowing what is causing an illness,” said Sen. 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.”
The legislation, which is supported by more than 100 patient advocacy organizations, has been referred for consideration to the U.S. Senate Finance Committee.