Jeffrey Bendix

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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 

 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.

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

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.

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."

 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.

Articles

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

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

In 2008, the Commonwealth Fund provided additional food for thought with its publication of a state-by-state scorecard of the quality of children's care, "U.S. Variations in Child Health System Performance: A State Scorecard," which focused on 13 performance indicators of access, quality, costs, equity and the potential to lead healthy lives. Among its findings, the study reported that the proportion of uninsured children ranged from 5% in Michigan to 20% in Texas, and that 75% of Massachusetts children receive regular medical and dental care versus 46% in Idaho. More than half of children in the New England states have a medical home, compared with just one-third in Mississippi.  

Edward Schor, MD, vice president of the Commonwealth Fund and one of the study's authors, says the report highlights the need to extend health insurance to as many children as possible.  

Dr. Schor adds that the study is intended to help states improve children's healthcare. 

"The scorecard is not designed to beat up on any particular state, but to show that some states can pull this off," he says. "So when a state asks why it's low, I say 'call one of the higher ranking states. They'll tell you how they did it.'" 

While the Commonwealth Fund study has interested insurance providers, translating its findings into meaningful changes in coverage and pricing-or contracting with healthcare providers-remains a challenge. That's because compared with adult care, the industry has little data regarding quality measures and outcomes for children. 

McAndrews believes pediatric hospitals could play an important role in plugging the children's healthcare data gap and finding ways to improve quality. He proposes using hospitals as hubs linking pediatric subspecialties in their communities.  

"The specialists would get to know one another and develop mechanisms for collecting information, then, by linking with other children's hospitals across the country, sharing data, and working with managed care organizations, we could make a real difference in improving the quality of care for children." 

For Dave Schinderle, vice president of finance for hospital operations at Children's Hospital of Orange County in Orange, Calif., the regional variance in children's healthcare comes as little surprise. He believes the same dynamics that drive people who treat adults apply to people who treat children. 

Schinderle says there has been talk among the major insurers with whom the hospital contracts about instituting incentives to reward quality and cost-cutting, but little action thus far.  

"What I'm hearing is there's just not enough data for the payers to feel like they've got solid ground to stand on when it comes to pediatric medicine," he says. 

State performance scorecard tracks uninsured kids, access, quality and costs. Often lack of data stalls quality incentives in pediatrics

Jeffrey Bendix

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

Children's health worthy of investment