Whole-Genome Sequencing for Rare Conditions on the Horizon
Garnering rare bipartisan support, several Democratic and Republican
senators have introduced legislation in the Senate intended to help children
with rare diseases receive testing with whole-genome sequencing (WGS) with the
goal of finding a cause for their conditions.
Ending the Diagnostic Odyssey Act, as it is called, would allow states to conduct WGS testing services for children on Medicaid with a disease suspected to have a genetic cause. The pilot program would fund 75 percent of the cost of the testing through federal medical assistance. Such access is already available in New Jersey. The act is supported by more than 100 patient advocacy organizations representing conditions such as muscular dystrophy, epilepsy, and tuberous sclerosis.
Summary of Bill
This bill allows state Medicaid programs to cover whole genome sequencing services for certain individuals.
Specifically, states may cover such services for individuals under the age of 21 (or a lower age, if the state chooses) and for former foster youth under the age of 26 who (1) have been referred or admitted to an intensive care unit or seen by a medical specialist for a suspected genetic or undiagnosed disease, or (2) are suspected by a medical specialist to have a neonatal- or pediatric-onset genetic disease.
The Centers for Medicare & Medicaid Services may award grants to assist states in developing plans to cover such services.
Blue Shield of California is the first health plan in the US to cover
rapid WGS for critically ill children (March 2020). The decision was based on
studies that demonstrated clinical utility in the NICU and PICU settings. (See
‘Learn More – Primary Sources’ below). In the NSIGHT1 RCT, researchers found
Rate of diagnosis within 28 days of enrollment
Higher in cases (31%) vs controls (3%); p =
Median age at diagnosis
Earlier in cases (25 days) vs controls (130 days);
Median time to diagnosis
Earlier in cases (13 days) vs controls (107 days);
p = 0.040
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