Genetic Testing: More Options Require More Education

Increasing diagnostic options for providers and patients was a common theme throughout panel discussions and presentations at the 34th annual Lab Institute in Washington, D.C. Oct. 26-28, 2016. Speakers noted that more opportunities also require more education and better resources to help providers and patients understand their options, select the most appropriate diagnostics, and properly manage utilization.

Keynote speaker Mara Aspinall, chief executive officer of Health Catalysts and Executive Chairman of GenePeeks, indicated diagnostics will change with the rise of genetic testing. She explained that identification of genetic mutations rather than site of a tumor will drive cancer treatment in the future. Aspinall said that over more than 100 years the diagnostic question asked has evolved from “is this person sick,” to “what disease does this person have,” and will continue to evolve to identifying risk for a disease and preemptively targeting disease potential. The future of diagnostics, she predicted, will involve algorithms and integrated data gathered from the patient, clinical trials, point of care and other sources.

The final presentation, by Gillian Hooker, Ph.D, CGC, vice president of clinical development at NextGxDx (pictured above), addressed how personalized medicine and the cancer moonshot initiatives are factors driving an explosion in the genetic testing market with tens of thousands of tests currently on the market and new genetic tests being introduced every day. NextGxDx research indicates there are more than 65,000 genetic testing products on the market compared to less than 13,000 just three years ago and nearly 8,000 of those are panels. Hooker addressed challenges providers face in identifying the right test, particularly since most tests are not listed in EMR formularies and there is lack of standardization in terminology used for tests. Even after determining the test to order, getting paid for the test becomes the next hurdle, she noted, where lack of standardization again comes into play—complicating coding. Hooker explained that managing the data out there with regard to such tests creates a more efficient marketplace and discussed NextGxDx’s efforts to help providers compare tests and manage utilization.