Pilot Program Aims to Help Consumers Verify, Interpret Results of DTC Genetic Tests

April 22, 2019

The growing availability of direct-to-consumer genetic tests highlights the need for validating and interpreting the tests’ results.

The popularity of direct-to-consumer (DTC) genetic testing has increased steadily in recent years. But the growing use of these tests has also highlighted the need for validating and interpreting the tests’ results.

In an effort to address these and other challenges arising from the rapid growth of DTC genetic testing, digital health company My Gene Counsel is partnering with Ambry Genetics in a pilot program designed to confirm the results of DTC genetic tests and help people understand them. In particular, the companies are targeting people with a personal or family history of cancer and received negative DTC testing results.

At the same time, the companies will work to allay the fears of people who received false positive results from their DTC tests. A 2018 Ambry Genetics study of gene variants reported in the raw data of DTC genetic tests found a 40% false positive rate and 17% of variants in the raw data were misinterpreted as high-risk.

Related: The Promises and Challenges of Gene Therapy

“Both false-positive results and misclassification of variants can result in significant implications for an individual, including unnecessary stress, medical procedures, and testing of family members,” Brigette Tippin Davis, PhD, FACMG, Ambry Genetics’ senior vice president of research & development said in a statement. “Together, My Gene Counsel and Ambry Genetics are providing a unique solution that will help alleviate these problems.”

The need for the type of services My Gene Counsel and Ambry will provide grew more acute last year, after the FDA approved 23andMe’s DTC genetic test assessing the BRCA1/BRCA2 mutations most common in people of Ashkenazi Jewish descent. The company has stated that consumers should confirm results of these tests in a medical-grade lab before acting on them.  

Only a very small fraction of disease-causing mutations are evaluated in most DTC testing, leaving patients with misinformation about their risk, according Robert Guigley, vice president, Market Access, at Ambry Genetics.

There are a few misconceptions consumers have about DTC genetic testing, according to Guigley. "People assume they are not at risk for breast cancer or other conditions if no mutations were found on a DTC report. However, they may in fact, still be at risk for this disease and would benefit from increased surveillance or testing," he says.

Guigley also points out that comprehensive sequencing and deletion/duplication analysis (clinical-grade testing), rather than screening specific and limited variants (typical DTC testing), is a more accurate way to determine your inherited risk of a particular inherited genetic disease.

Related: Genetic Testing in Treatment Decision Making Goes Mainstream

So far three commercial insurance companies-Aetna, Anthem, and Blue Shield of California-have said they will update their BRCA testing policies to cover repeat testing. 

"Development of DTC confirmatory testing coverage is in the early stages with just a few payers including this in policy. However, we are pleased to see that some payers, including Aetna, one of the nation's largest, have policies that clearly cover confirmatory testing for individuals with pathogenic mutations on DTC tests. Some major lab benefit managers, who advise and create policy for multiple plans, also cover confirmatory testing," says Guigley. "There are also policies, like one included by Anthem, that outlines the limitations of some DTC tests, given that they only test three of more than 1,000 known BRCA mutations. This makes it clear to members and providers that a negative result does not rule out risk causing mutations. Most health plans are still silent on this topic, although the coverage trend is encouraging."

Gene tests are becoming less expensive and this is introducing new dynamics for health plans and members, according to Ashraf Shehata, principal at KPMG and a member of the firm’s Global Healthcare Center of Excellence.

"The law prevents discrimination in employment and health coverage based upon genetic information, so there needs to be some sort of protocols to make sure members are protected," Shehata says. "There can be opportunities to use the information from gene tests to improve health. A patient’s risks uncovered from a screening should be discussed with a medical professional, as well as the type of lifestyle changes or treatment plans. This is too serious to trivialize, since having the test results without context from a professional could either unduly alarm a patient or they may overlook a potential condition. Sometimes, concerned patients may run up unnecessary medical diagnostics, if clinical consultations are not effectively integrated as part of the results review process."

Managed Healthcare Executive editorial advisor Don Hall, MPH, principal of DeltaSigma LLC, a consulting practice specializing in strategic problem solving for managed care organizations, agrees. "Health executives are looking at the application of genetic tests when to take a preventative course of action in lieu of an almost certain serious and costly diagnosis," Hall says.

Jeffrey Bendix is senior editor for Medical Economics.