Daniel S. LevieAbout a year ago, Rep. Eric Swalwell, D-California, along with 14 other members of Congress, sent a letter to then Department of Health and Human Services Secretary Tom Price and the National Academy of Medicine asking them to conduct a study to examine how the federal government could help improve patient access to genetic testing.

About a month later, a long and respectful response came back from HHS that didn’t quite answer the request. Price noted that “the Department has a range of resources and activities, including collaborations with the National Academies, on relevant issues that will continue to guide HHS efforts to advance the integration of genomic technologies into clinical care.”

The secretary touted all the things HHS was doing in the area of genetic testing, suggesting he didn’t see any need for the study. The apparent take-away from his response was that it would take an act of Congress to get HHS to do what Swalwell and company were asking.

Now Swalwell and a bipartisan group of his colleagues have put forth The Advancing Access to Precision Medicine Act, proposed legislation that would instruct HHS and National Academy of Medicine to develop recommendations on how the federal government could reduce barriers to the use of genetic and genomic testing. The bill’s original co-sponsors include John Shimkus, R-Illinois; Scott Peters, D-California; Erik Paulsen, R-Minnesota; and Juan Vargas, D-California. If passed, Congress won’t be asking HHS to do this, they’d be telling them.

The bill also would let states apply for an exception to the federal medical assistance percentage rate to provide whole genome sequencing clinical services for certain children on Medicaid who have an unresolved disease that is suspected to have a genetic cause. The purpose is to study whether such services help settle a child’s diagnostic odyssey, improve clinical outcomes, and ultimately reduce program expenditures.

For the rare disease community, the issue is of no small consequence. Despite the falling costs of genetic testing, they can still be cost prohibitive for many families. Health insurance companies all too often refuse to pay for such tests even though they can hold the greatest promise for diagnosing a rare disease. When patients do get access to such test, it often comes after years of visits to a variety of doctors who are unable to provide the answers they seek. Given the progressive nature of many rare diseases, delays in getting a diagnosis can carry severe consequences.

Developments in genomics has led to new ways to diagnose and treat genetic disorders. It has the potential to transform the practice of medicine in a fundamental way, moving it toward a more predictive and preventative approach. It also is moving to away to treating the symptoms of disease, toward addressing the underlying causes. Ultimately, this could bend the cost curve on healthcare, extend the healthy lives of patients, and provide cures.

“In a world in which therapies exist for only 5 percent of the 7,000 known rare diseases, genomic sequencing holds the potential to not only accelerate diagnoses, but also personalize treatments, and even speed development and approval of novel therapies,” bill co-sponsor Shimkus said. “Building on the successful 21st Century Cures Act, the Advancing Access to Precision Medicine Act would help low-income families access this innovative technology.”

The legislation could have ramification for patients beyond the area of rare disease as advances in sequencing is moving healthcare more broadly toward precision medicine and playing a greater role in the way physicians and drugmakers approach cancer and an emerging number of other diseases. Already the Personalized Medicine Coalition, the EveryLife Foundation for Rare Diseases, Biocom, the Advanced Medical Technology Association, and the American Association for Cancer Research are supporting the legislation.

In the world of rare diseases, much of the discussion around access focuses on getting access to high-cost therapies. But getting access to therapies can only come after a patient has access to the right physicians and access to the necessary diagnostic tests.

If patients can’t benefit from the advances that have been made because they can’t afford them, don’t have insurance, or their insurer refuses to pay for them, they are condemned to live with 20th century medicine in a 21st century world. The bill is a modest proposal. Let’s hope that it’s a first step to ensuring all patients have access to the genetic testing they need.

February 21, 2018
Photo: Rep Eric Swalwell