It's estimated that by 2021, 100 million people will have used a direct-to-consumer (DTC) genetic test. As these tests continue to gain popularity, there is a need for educating consumers on their DTC testing results and validating these results with confirmatory testing in a medical-grade laboratory.
As direct-to-consumer (DTC) testing gains momentum among consumers, there is a need for educating consumers on their DTC testing results and validating these results with confirmatory testing in a medical-grade laboratory. Spearheading this mission, My Gene Counsel, a digital health company that provides digital genetic counseling information, has formed a partnership with Ambry Genetics to offer a solution for these consumers. At the same time, insurers are warming up to the idea of covering confirmatory testing and seeing the benefits for their insured.
The program, meant for people with strong personal or family histories of cancer who have done a DTC test, offers patients a Living Lab Report explaining their DTC results and how they differ from a medical-grade test they may get through a genetic counselor or their provider. Patients then begin the verification process by providing their personal and family history of cancer, as well as their insurance information. From there, the program will begin to determine if the person would be covered for verification testing by their insurance, and if not, they discuss with the patient what their potential out-of-pocket costs would be.
Patients then speak with a certified genetic counselor by phone who helps them decide if they need verification testing, and if so, which one. If the consumer wishes to move forward with verification testing, a test kit is sent directly to their homes. After sending the kit back to Ambry Genetics, the consumer is provided with a final Living Lab Report from My Gene Counsel that explains their final test result that they can bring to their provider, and they can also opt for another counseling session by phone if they wish.
Recognition of a need for a program like this became evident as 23andMe gained FDA authorization of its DTC test that assesses 3 BRCA1/BRCA2 mutations that are most common in those of Ashkenazi Jewish descent. In January, the company also gained clearance for its DTC genetic test reporting on the 2 most common genetic variants associated with MUTYH-associated polyposis, a hereditary colorectal cancer syndrome. But 23andMe states that all of its results should be repeated in a medical-grade laboratory before medical decisions are made.
While rolling out the pilot, Ellen Matloff, MS, CGC, president and chief executive officer of My Gene Counsel, and her colleagues were met with the finding that many consumers have misconceptions about what these DTC tests offer.
“One of the things we found was that for some consumers who need help based on strong personal or family history, instead of getting medical-grade testing, they’re doing 23andMe and they’re using limited resources to pay for kits that won’t give them the answers they need,” said Matloff.
She gave the example of a woman participating in the program who had a strong personal history of breast cancer and a family history of ovarian cancer and had debated getting 23andMe kits for several members of her family to determine if they carried BRCA mutations. With the woman not being of Ashkenazi Jewish ancestry, the tests would have most likely come back negative for the 3 common Jewish BRCA mutations, giving the family false reassurance.
Even amongst those of Ashkenazi Jewish ancestry, a negative 23andMe BRCA test result is not the end of the story, as 23andMe’s test only releases the 3 most common BRCA mutations associated with the ancestry. Many people of Jewish ancestry with strong histories of cancer instead carry an uncommon mutation in BRCA, or a mutation in one of dozens of other cancer genes, which 23andMe does not return.
It’s also important to understand that DTC results are not always accurate. A 2018 study by Ambry Genetics found that among the gene variants reported in the raw data of DTC genetic testing, there was a 40% false-positive rate and 17% of variants were misinterpreted as high risk.
In preparation for My Gene Counsel’s pilot program, Matloff used some of the top genetic tests on the market and tested positive for Lynch syndrome, a hereditary cancer syndrome that is associated with a high risk of colorectal, uterine, and ovarian cancers. As panic set in, Matloff obtained confirmatory testing through a medical-grade company, which determined that she was negative for the variant reported in her raw data from the DTC test.
However, despite the chance of getting a false positive, these tests are not going away. On the contrary, it’s estimated that by 2021, 100 million people will have used one of these tests, said Matloff. As a result, there is a need for not just consumer education on these tests, but also a need for getting providers and insurers on the same page.
“Healthcare providers can no longer afford to ignore these findings, because even now, some patients are coming in and saying, 'I did this at-home kit and I found x, y, and z,' and their healthcare providers are saying, ‘Those tests are bologna. Throw them in the trash,’ when in reality, many of those findings prove to be correct,” said Matloff.
“Eight years ago, I would have been very negative about these DTC tests, but I’ve since met many consumers who never would have known that they had a genetic finding unless they stumbled across it by doing a DTC test. The only other way they would have found out about it is when either they or a family member were diagnosed with that disease,” she added.
Insurers have started to get on board with the idea of DTC result verification, with a growing awareness that covering confirmatory testing yields benefits not just for their consumers, but also for their bottom lines.
“It will cost everyone less money in the long run if we sort out which of these results are accurate and which are not, so we can act appropriately. It is much less expensive for everyone involved if we learn who is at high risk ahead of time—before they develop cancer,” explained Matloff.
Blue Shield of California, in particular, led the charge on this as its genetics team realized that its insured were already using DTC testing and ending up in a hole with BRCA-positive test results, not knowing what to do next. Under its updated BRCA testing coverage policy, the insurer will cover confirmatory testing in a medical-grade laboratory for any insured who has received a positive Ashkenazi Jewish BRCA finding from 23andMe’s test. Aetna will also cover confirmatory testing to individuals with positive BRCA1/BRCA2 variants on the 23andMe test, and Anthem’s coverage policy states it will cover confirmatory testing for those with BRCA1/BRCA2 mutations detected by an FDA-authorized DTC test.
“I predict that we will quickly see more and more insurance companies paying for DTC result verification testing, through programs like ours,” said Matloff. "One in 3 of their insured will soon have had DTC testing on their own. We’d all be foolish to ignore DTC results that consumers are already holding in their hands. Those results have the potential to save lives and to cut costs.”