By Deborah Borfitz
October 25, 2018 | The Mayo Clinic is seeking to raise the “genomic literacy” of consumers with an education app built in cooperation with sequencing warehouse Helix. Healthy individuals can use Mayo Clinic GeneGuide both to get their DNA sequenced and to better understand the benefits and limitations of genetic testing, says Matthew Ferber, a Mayo Clinic clinical molecular geneticist who led the development of the app. Unlike traditional direct-to-consumer testing companies, including market leader 23andMe, Mayo Clinic GeneGuide requires a physician’s order and doesn’t leave the test-taker marooned on an “island” with the results.
The test is neither diagnostic nor exhaustive, says Ferber. For a flat fee of $199.99, consumers can learn about 15 different health conditions in four categories—including cardiovascular disease and their carrier status for four genetically linked health conditions, how their body processes certain over-the-counter medications and physician-prescribed anesthesia, and their health traits for things like alcohol flush reaction and atopic dermatitis.
“Consumers want to learn about their genetics, and we feel it is really important to empower them to make these choices on their own,” says Ferber. But given the challenges in interpreting test results, they could use some handholding.
That’s why the Mayo Clinic GeneGuide process begins on a co-branded website where consumers answer a few questions to determine if their personal or family health history includes any of the conditions included in the test, says Ferber. Carrier screening for cystic fibrosis, for example, looks only for the 23 most frequently occurring mutations—the minimum recommended by the American College of Obstetricians and Gynecologists. But there are literally thousands of other, mostly rare variants that if present would change the interpretation of a negative test result. Patients with those variants would be better served by genetic counseling and more thorough carrier testing in a diagnostic laboratory.
Anyone with a personal health history of a liver transplant would likewise be referred to a medical-grade testing facility, since drug metabolism would be dictated by the genetics of their organ donor, says Ferber. A pregnant woman would also be advised to consider more comprehensive testing for herself and her reproductive partner.
The health history information gets immediately forwarded through Mayo to a pre-approved physician with affiliate PWNHealth, a nationwide network of genetic counselors and physicians tasked with reviewing the questionnaires and determining if Mayo Clinic GeneGuide is appropriate for them. PWNHealth was selected because it has a proven track record, is proactively working with the U.S. Food and Drug Administration on its consumer outreach and assistance practices, and its “protocols, attention to detail and commitment to the consumer” are well aligned with the Mayo Clinic, says Ferber.
Once in receipt of a physician’s order from PWNHealth, Helix mails individuals a genetic test kit with instructions on how to submit a saliva sample. Next-generation sequencing data on the extracted DNA gets passed on to Mayo for interpretation. Along with the test results from the Mayo Clinic, consumers are invited to contact a genetic counselor with PWNHealth to individually go through their report if they feel uneasy about any of the findings, says Ferber.
The PWNHealth component is what differentiates GeneGuide from companies such as Counsyl that also allow people to order genetic tests through a physician they never see, says Ferber. PWNHealth not only reviews each order to ensure GeneGuide is appropriate for individual consumers and, when it is not, reaches out to discuss the most appropriate type of alternative testing. It also provides “clinical oversight, expert education, and counseling throughout the testing process.”
Results are sent to consumers in lay language but are organized like a standard genetic interpretive report, so they look familiar to physicians when they’re ultimately and often unexpectedly brought into the conversation, continues Ferber. Consumers are also encouraged to use the mobile-enabled website of Mayo Clinic GeneGuide that provides “here’s what you need to know” and “here’s what you can do” level information on each of their test results—together with a list of recommended talking points they can use is discussions with their doctor.
The website seeks to dispel myths about genetic determinism and focus attention on the often relatively more important health impacts of age, gender and behavior choices such as heavy drinking and smoking. It also provides links to other trusted sources of information to learn more about disease risks and genetic counseling.
But there’s nothing that precludes consumers from abandoning their fascination with genetics. “Sequence once, query often” is Helix’s slogan, and it means all of the DNA from individuals’ original saliva specimens get securely stored away until the next time they push the purchase button to pull more of it for interpretation via an app such as Geno 2.0, the ancestry DNA kit of National Geographic or Wine Explorer (offering scientifically selected wine recommendations)—or possibly a future enhanced version of Mayo Clinic GeneGuide that includes more genes and disorders. The initial process takes six to eight weeks from start to finish, but subsequent queries a matter of hours or days without the need to provide another saliva sample, says Ferber.
Currently, Mayo Clinic GeneGuide is available to consumers everywhere except Maryland, New York and Pennsylvania, and that’s a temporary restriction, says Ferber. Those states require that the newly opened Mayo Clinic GeneGuide lab doing the interpretation first be accredited by the College of American Pathologists.