NEW YORK (GenomeWeb) – Ancestry may be the gateway application for consumer genomics customers, but some firms believe there is a desire for more personal genetic data, especially related to health.
To address that need, MyHeritage, an Israeli online genealogy company, recently expanded its ancestry genetic testing offering to include disease risk information. The new test, called MyHeritage DNA Health+Ancestry, includes dozens of personalized health reports for a variety of conditions. Customers can now order the expanded test for $199 plus shipping, or upgrade existing accounts to obtain their health results for $120. The Or Yehuda-based firm provided details about the new offering in a blog post last week.
The move is in line with a trend across the consumer genomics space to offer customers genetic information beyond ancestry, and to compete more directly with providers like 23andMe that have offered both ancestry and disease risk information for over a decade.
However, not all these ventures have been successful. Helix, for example, which has been providing a marketplace for developers of consumer genomics tests, many of them health related, recently said it is shifting to partnerships for population genomics projects, as some partners have cited disappointing sales and have pulled their apps from the platform.
"I think it's a nice combination of giving people something about their past, their genealogy, and … something about their future," said MyHeritage CSO Yaniv Erlich of his firm's new offering.
Erlich, an associate professor of computer science at Columbia University and one of the founders of the nonprofit DNA.Land, took a leave of absence from Columbia to join MyHeritage as CSO two years ago. Building a health component to MyHeritage's genetic genealogy service has been his objective since he joined the firm.
Erlich portrayed the expansion into health as a natural step for the company after winning the trust of consumers with its ancestry test, which offers ethnicity estimates, relative matching, and other genetic genealogy tools such as a chromosome browser. Founded in 2003, MyHeritage currently has about 100 million users signed up to its online genealogy service worldwide, as well as 3 million customers who have used its genetic genealogy service, which it rolled out two and a half years ago.
"This gave us a tremendous advantage of interacting with people who trust us, not starting from square one, but with a vibrant community that we helped to create," Erlich said. MyHeritage's ancestry service also helped prepare the company for market entry into health in other ways.
"If you talk about relative matching and identity-by-descent, we had to educate our users about quite complex population genetics concepts," Erlich said. "This created a lot of understanding, within the company, how to do something like launching this new test."
The 29 health reports included in the new DNA Health + Ancestry test cover 14 conditions. There are three polygenic risk reports, for female breast cancer, heart disease, and type 2 diabetes. There are also 11 monogenic risk reports, for BRCA-related cancers, celiac disease, late-onset Alzheimer's disease, and other conditions. Then there are 15 carrier status reports for conditions such as cystic fibrosis, sickle-cell anemia, and Tay-Sachs.
Erlich said that MyHeritage devised its reports based on information that competitors, such as 23andMe, currently offer to the market, along with other tests that the company felt compelled to offer. He declined to discuss future add-ons to its menu of health reports at this time.
The company noted in its post last week, though, that it will definitely build out its polygenic risk reports going forward. These new tests, which rely on multiple genetic variants to assess a person's genetic risk, are currently only available for customers of European descent, as they were based on studies of European populations. MyHeritage said it is now carrying out studies to be able to expand its polygenic risk reports to other populations in the future.
To launch its health test, MyHeritage engaged partner Illumina to design a custom version of its Global Screening Array that Erlich said will be compatible with future iterations of its health and ancestry tests. The firm reported in its blog post that there was an "initial delay" in supply by Illumina that caused a delay to the return of results in March, but that by last month, the firm was able to overcome almost all of that backlog.
MyHeritage has a turnaround time of three to four weeks for its health and ancestry tests.
The company does not rely solely on microarrays for its new health test, though. MyHeritage said that it double-checks all pathogenic findings indicating an increased genetic risk with Sanger sequencing.
According to Erlich, a core issue the company had to address before rolling out Health + Ancestry was the regulatory implications of making such a test available worldwide. The test is currently being offered as a laboratory-developed test via MyHeritage's CLIA-certified lab in Texas. Unlike 23andMe's tests, though, every order needs to be reviewed by a physician. However, the test is still not available in New York, Rhode Island, and New Jersey, pending local state approval. Erlich said the company is working towards obtaining clearance to sell the Health + Ancestry test in those states.
Erlich noted that it took MyHeritage about two years to work through the regulatory questions associated with launching its test globally. The company also engaged with people outside the company as it designed the product, including medical geneticists from its partner, New York-based PWNHealth, a provider of telemedicine genetic counseling services.
"You want to be innovative, but you also want to be humble," said Erlich. "Don't forget, we are talking about people's health," he said. "We decided to gain [external] experience while working more with the same infrastructure we have, which is positioned very much for innovation."
Global reach, local oversight
MyHeritage is betting on its global reach, customer service capabilities, and entrenched position in the genealogy market to help it win new clients with its Health + Ancestry offering, though 23andMe, its main competitor so far, also ships its Health + Ancestry Kit internationally, with coverage of the US and Canada, Australia, New Zealand, and most European countries, as well as Hong Kong.
MyHeritage has always had a strong international presence. It offers its products in 42 languages, a feature that has enabled it to win over European customers, a market that some American consumer genomics firms have acknowledged in the past has been harder to penetrate than the US.
"Europe is a very important market for us," noted Erlich, adding that MyHeritage's business there is actually growing faster than its US business.
"US companies usually take a product, ship it to Europe, and think that's it," Erlich remarked. "What we have learned is that you have to make the product available in the local language, because not everybody is a fluent English speaker, and you need to have representatives available so that when a 74-year-old grandmother from Germany has a question, she can talk to someone who speaks fluent German," he said.
MyHeritage, meantime, has also looked to cater specifically to US customers by offering clinical oversight via its partner PWNHealth. Anyone who orders the DNA Health + Ancestry test must also fill out a personal and family health history questionnaire, Erlich noted. In the US, an independent physician will review each client's responses, approve the processing of the test, and review the health reports before they are returned to the customer.
If a customer is found to be at increased risk for a certain condition, the same physician will decide if counseling is needed, and a phone or video consultation with a counselor from PWNHealth can be scheduled. Such consultations are included in the kit price.
"This is not just about physician oversight," said Erlich. "It's about having a genetic counselor call you if you take the test and have a BRCA mutation," he said. "This is very different from a direct-to-consumer approach where you just purchase the test," he continued. "We don't place a barrier where you have to go to a physician and schedule an appointment."
A growing interest in health
The consumer genomics market continues to grow, with Lehi, Utah-based Ancestry reporting last week that it now has 15 million people in its DNA network, seven years since it introduced its AncestryDNA genetic genealogy service in 2012.
As JP Morgan analyst Tycho Peterson pointed out in a recent research note, Illumina reported array revenues from 12 million consumer samples last year, nearly double the number of samples run in 2017, which was greater than the past decade combined. Much of that interest has been around ancestry, though, and Peterson also characterized health-related testing as being in the "nascent stages of penetration."
Still, some industry observers believe that MyHeritage's move into the health space is part of a greater pivot toward health-related testing among consumer genomics service providers.
"While ancestry has been the primary application to date, consumer interest is growing in health applications significantly," said Ruby Gadelrab, founder and CEO of Santa Clara, California-based Ruby Consulting Group, which provides marketing, medical, and commercialization services to companies in the healthtech space, including consumer genomics companies.
Gadelrab, who previously held senior marketing positions at 23andMe, Invitae, and Affymetrix, attributed the interest in health-related genetics to an overall growth in awareness about genetics thanks to the "significant advertising dollars" spent by firms like 23andMe and Ancestry, among others.
That increased familiarity has coincided with the advent of polygenic risk scores, she noted, meaning that companies like MyHeritage are reporting on genetic risk of complex diseases such as diabetes or cardiovascular conditions, the overall risk for which can be reduced by lifestyle changes. "Consumers are becoming more health aware and looking for solutions to manage and understand their health and risk outside the health system," noted Gadelrab. "We see this in the growth of wearables, health apps, and home blood and biomarker testing kits," she said.
According to Gadelrab, there is also a growth in interest from international markets, which tend to favor health applications. "In the international markets, there is much less of an interest in ancestry and much more in health applications and also wellness, such as personalized nutrition, personalized skin recommendations, and sleep [applications]," she said.
Despite those market winds, it is unclear if Ancestry, as a market leader, will get into the health space. A company representative declined to comment on the question. Similarly, 23andMe declined to comment on MyHeritage's new offering. An email to Houston, Texas-based Gene by Gene, which runs Family Tree DNA, about a potential move into health testing was not returned.
Roberta Estes, a genetic genealogist and author of the blog DNAeXplained, noted that MyHeritage, as a company with a background in online genealogy, is approaching the market from a different perspective than 23andMe, its most immediate competitor, which she characterized as being focused more on health-related testing.
"From the beginning, 23andMe's focus has been medical and their lack of support for [genealogy] makes their DNA testing less productive and useful for genealogists, so fewer test there," said Estes.
According to Estes, the genetic genealogy community is interested in receiving health information, too, though. "When genealogists obtain the death certificates of family members, cause of death is one of the first pieces of information that we read," Estes said. "The MyHeritage offering now provides the opportunity for genealogists to receive health information privately, meaning not through expensive medical testing," she said. "These tests have the ability to change and save lives."
Still, she said that such health results have to be treated with caution by users of these services. "It's important to understand that understanding genetic components of disease is evolving daily, and seldom are genetic mutations absolute," noted Estes. "More often, they are early warning signs, the equivalent of a genealogist's hint that the individual should be vigilant about certain health aspects and potential conditions," she said. "And anyone who discovers the potential for a serious disease should follow up with their physician and discuss genetic medical testing."
While those are real caveats, David Mittelman, CEO of Othram, a forensic genomics firm based in The Woodlands, Texas, and the former CSO of Gene by Gene, said that all together he was "impressed" with MyHeritage's new consumer product.
"I like the idea of offering medical testing to consumers. I think it's the future," said Mittelman. "The question is how do you bring testing directly to consumers in a responsible way," he said. "Offering counseling and support, validating [and] confirming test results to be extra sure that the information is credible, and testing for a more comprehensive list of genetic changes are all important for responsibly delivering medical testing to consumers," he said.
"I especially like that markers that indicate substantial risk are validated using an orthogonal approach, in this case, Sanger sequencing," Mittelman added. "It is obvious that the MyHeritage team thought through the product before rushing it to market and I look forward to seeing what new reports they add as the product evolves," he said.