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Mayo Clinic Launches Educational Consumer Genetics App That Also Provides Some Health Results


NEW YORK (GenomeWeb) – The Mayo Clinic entered the consumer genetic testing market this week with the launch of a DNA testing and educational app, called the Mayo Clinic GeneGuide, that is available through the Helix platform.

The GeneGuide, which costs about $200 for both new and existing Helix customers, provides genetic results for a total of 15 conditions in the areas of carrier screening, disease risk, medication response, and health-related traits. "This is really an educational tool for consumers," said Matthew Ferber, a clinical molecular geneticist at the Mayo Clinic who led the development of the app. "We are not trying to be exhaustive in any one of those four categories — this app is all about education."

However, despite education being the stated goal, and a disclaimer on the Helix website that the offer "is not a diagnostic product," consumers may still learn about a few genetic conditions that may profoundly impact their health, such as an adverse reaction to anesthesia drugs. Also, their order needs to be reviewed by a physician, and all test results are interpreted and reviewed by genetic professionals at the Mayo Clinic prior to their return.

Some worry that this type of approach could muddy the waters of consumer-focused and healthcare-focused genetic testing. "There seems to be a risk here that the relationship between the person who is tested and the healthcare system could be unclear — is the person who was tested primarily a consumer or a patient?" said Michael Murray, director of clinical operations at the Center for Genomic Health at Yale School of Medicine and Yale New Haven Hospital.

According to Ferber, Mayo's involvement ensures the quality of the testing and interpretation. "The app is really there to serve as an educational tool for individuals," he said. "But we want to make sure it's of the highest quality. We wouldn't want to educate them using their own genetic information and run a risk that it was incorrect, so we run it as we would run any other test here at the Mayo Clinic."

It is not meant to be a clinical test, though. "We've been very clear about what this test can and cannot tell you. It's very clear that we don't test for every variant, we don't test for every gene associated with a disease," Ferber said. "If you're seeking a result for diagnostic purposes, or if you're looking to solve some type of health mystery within your family, we recommend that you meet with a physician and order a diagnostic test."

The Mayo Clinic GeneGuide, billed on the clinic's website as "a genetic testing experience that helps you understand how genetics can affect your health," is the first result of a collaboration between the Mayo Clinic Center for Individualized Medicine and Helix that was initiated in 2015 to develop consumer-facing applications that provide information about health-related conditions and education about genetics. As part of the agreement, the Mayo Clinic made an investment of undisclosed size in Helix. 

Mayo's offering, which is not available to consumers in New York, Pennsylvania, or Maryland, joins four other tests available in the "health" category on the Helix marketplace: a $199 carrier screening test by Sema4 called CarrierCheck that covers 67 inherited conditions; a $125 Inherited Cholesterol Test by Admera Health that determines genetic predisposition to familial hypercholesterolemia; a $150 Inherited Diabetes test, also by Admera, for maturity onset diabetes of the young (MODY); and a recently-launched $160 Alzheimer's ApoE test by ADx Healthcare.

In addition, PerkinElmer and the NorthShore University HealthSystem said this spring that they are developing health-related apps for the Helix platform. PerkinElmer's first app will focus on variants in 59 genes associated with rare inherited diseases that were determined actionable by the American College of Medical Genetics and Genomics. Meanwhile, NorthShore said it is working on a Helix app that will provide a polygenic risk score for prostate cancer. Furthermore, Invitae said in 2016 that it is developing disease risk apps for the Helix platform but has not launched any so far.

Compared to the other health-related Helix apps, which focus on either specific disease areas or a certain type of testing, such as carrier screening, Mayo's app is broader because it addresses four different areas of genetic testing, though it only provides a handful of results for each.

For carrier screening, it covers just four conditions: cystic fibrosis, focusing on the most common variants in the CFTR gene; GJB2-related hearing loss, covering the most common variants in the GJB2 gene; medium-chain acyl-CoA dehyodrgenase deficiency, a metabolic disease, assaying the most common variants in the MCAD gene; and sickle cell disease, looking for two variants in the HBB gene.

"This is not some type of comprehensive prenatal carrier screening type test," Ferber said. "This is just a little bit to get people to learn about the concepts associated with autosomal recessive carrier screening and inheritance patterns."

In terms of genetic disease risk, the Mayo app addresses four conditions, assessing just a few variants for each: risk for atrial fibrillation, based on one variant in the ZFHX3 gene and one intergenic variant; age-related macular degeneration, based on one variant in the CFH gene and one in the ARMS2 gene; coronary artery disease, based on one intergenic variant, one variant in the LPA gene, and one in the SORT1 gene; and venous thromboembolism, based on one variant each in the blood clotting factor V and factor II genes.

For pharmacogenomics, the app covers four drug interactions: ibuprofen metabolism, based on CYP2C9 variants; malignant hyperthermia susceptibility, which can lead to complications from anesthesia drugs, based on variants in the CACNA1S and RYR1 genes; metabolism of omeprazole, a drug used to treat heartburn, based on CYP2C19 variants; and pseudocholinesterase deficiency, also associated with complications from anesthesia drugs, based on variants in the BCHE gene.

Finally, the app delivers results for three health traits: alcohol flush reaction, testing for one variant in the ALDH2 gene; atopic dermatitis, looking for two variants in the FLG gene; and lactase persistence, which predicts lactose intolerance, assaying for two variants in the MCM6 gene.

Consumers receive their test results in two ways: as a simplified report that highlights the most important aspects and explains what the results mean in easy language, and as a detailed lab report — a 39-page sample report is available on the Mayo website — that they can take to their healthcare provider. They can also call the helpline free of charge, and if their question is related to a genetic result, it will be answered by a genetics professional at Mayo's partner PWNHealth, which maintains a network of physicians and genetic counselors and provides similar services to other companies.

Certain "high impact" results will not be disclosed to customers immediately but will first go back to PWNHealth, where a certified genetic counselor will call the customer to communicate the result and explain what it means. This is currently only the case for positive results for one of the two pharmacogenomic tests that affect anesthesia drug response, Ferber explained, or when there is a positive results for blood coagulation factor V and the customer is also taking an oral contraceptive, which increases their risk. It also happens if a carrier screening result indicates the customer has two variants, meaning he or she may have the condition rather than just being a carrier.

Murray said that certain positive test results — for example for malignant hyperthermia susceptibility or alcohol flush reaction, which raises the risk for esophageal cancer — may benefit from follow-up. "I am hoping that details of the management methodology will be made public and relevant outcomes will be tracked and reported post-marketing so that we can all learn how to optimize this kind of care delivery," he said.

The app also tries to put genetic disease risk into the context of other risk factors, such as — in the case of coronary artery disease — age, gender, smoking status, blood pressure, and cholesterol levels. It visualizes risk as a beaker of water, where the water level represents the overall disease risk and marbles of different sizes inside the beaker that raise the water level represent individual risk factors.

Some of the early consumer genetics tests, Ferber said, added the risk from independent markers into a composite score. "We don't believe in doing that at all," he said. "What we believe in doing is showing the individuals their independent risks, and instead of leaving them wondering, 'is that significant or is it not significant,' we show those independent risks next to other things, like age, gender, smoking, drinking," so people can compare the size of various risk factors and start thinking about how to reduce their non-genetic risks.

In addition to genetic testing results, the app also provides tools that customers can use to explore their disease risk further. These include a pedigree drawing tool that lets them construct a family tree with associated health information, an ancestry tool that explains how ethnicity affects the risk for various inherited diseases, and a lifestyle assessment tool that asks about factors that impact disease risk, such as age, gender, drinking, smoking, and weight. 

It also includes a hereditary breast cancer screening tool, developed by Emory University, that assesses a customer's breast cancer family history through a series of questions. Based on the results, the app may recommend meeting with a genetic counselor to discuss genetic testing for inherited breast cancer risk.

Like the other health-related apps sold on the Helix platform, the Mayo Clinic GeneGuide requires a physician to review the test order, a service provided by PWNHealth. 

When consumers order the Mayo Clinic GeneGuide, they are asked to fill out a brief survey about their health history, on the basis of which the order is confirmed or denied. Ferber said the test is not suitable, for example, for someone with a history of any of the genetic conditions tested for, because the product is not a diagnostic test and may not include all relevant variants.

Also, individuals who had a liver or a bone marrow transplant are excluded because, genetically speaking, they are mosaics and their DNA results may not accurately reflect their medication response or their genetic disease risk.

Once approved, consumers get a saliva collection kit from Helix in the mail and their DNA is sequenced in Helix's CLIA-CAP laboratory. Following the data analysis, they receive their results, with an official turnaround time of six to eight weeks. If they are already a Helix customer, their data runs through Mayos's analytics pipeline and they obtain their results within a week or so.

Ferber said he hopes the GeneGuide will find good uptake but declined to talk about projected sales. "I think genetics and genomics are increasingly important in healthcare, and I think that there are a lot of false assumptions about the power of genetics," he said. "There are limitations, and I think this product will really help to teach people what those strengths and limitations are."

According to the Mayo Clinic, additional content will be added to the GeneGuide app over time, but Ferber declined to disclose specifics at this time.