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
OBG Project CME requires a modern web browser (Internet Explorer 10+, Mozilla Firefox, Apple Safari, Google Chrome, Microsoft Edge). Certain educational activities may require additional software to view multimedia, presentation, or printable versions of their content. These activities will be marked as such and will provide links to the required software. That software may be: Adobe Flash, Apple QuickTime, Adobe Acrobat, Microsoft PowerPoint, Windows Media Player, or Real Networks Real One Player.
Disclosure of Unlabeled Use
This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.
The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.
Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information
presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.
Jointly provided by
NOT ENOUGH CME HOURS
It appears you don't have enough CME Hours to take this Post-Test. Feel free to buy additional CME hours or upgrade your current CME subscription plan