NEW YORK – Ancestry this week introduced AncestryHealth Powered by Next Generation Sequencing, the next iteration of its Health experience that seeks to provide customers with actionable information about certain commonly inherited health conditions.
The Lehi, Utah-based online family history company has amassed a database of 18 million people in its AncestryDNA network since launching the microarray-based genetic genealogy service in 2012. Last year, the company expanded into health by launching AncestryHealth Core based on Illumina genotyping arrays, as well as pledging to make available a subscription-based, sequencing service with its partners Quest Diagnostics and PWNHealth.
AncestryHealth Powered by Next Generation Sequencing is that new offering, though the company has amended its product from a subscription-based model to one where customers pay a one-time fee. It also replaces the original AncestryHealth Core service.
"We wanted as many people as possible to have access to health information made available through NGS," said Sarah South, vice president of laboratory services at Ancestry. "With this in mind we changed the model to a simple one-time purchase and thought that was the best way to democratize access to this valuable information."
As of Aug. 3, AncestryHealth Powered by Next-Generation Sequencing is available to customers aged 18 and up in the US, with the exceptions of New York, New Jersey, and Rhode Island. Existing AncestryDNA customers can upgrade to the new AncestryHealth service for $99. South noted that existing customers will have to be reprocessed on the NGS platform, whereas new AncestryHealth customers will be sequenced for the first time and receive their Health experience as well as their ancestry Origins experience as part of the overall service.
"The majority of customers have allowed us to store their samples and we can use the existing samples that we have," noted South. "There will be a small subset of customers whose samples will need to be recollected," she added.
That built-in flexibility has informed the layout of Ancestry's sequencing assay, which uses Illumina sequencers and is designed to sequence customer's exomes, plus areas of the genome that are informative for the company's genetic genealogy service. "The regions of the genome that are relevant for your health are not always the regions of the genome that help identify a particular ethnic origin or put you in a genetic community or even sufficient to identify relatives," South commented. "So it's a customized design: exome plus regions relevant for our Origins experience."
The full list of conditions tested for in the new service are available on the AncestryHealth website. They include cancer risk assessments for breast, ovarian, and colorectal cancers; carrier status reports for cystic fibrosis, sickle cell anemia, and Tay-Sachs disease; five connective tissue disorder reports, which were not part of the existing AncestryHealth Core offering; and four cardiovascular reports related to heart disease, high cholesterol, risk of blood clotting, and iron overload.
Ancestry has also rolled its Wellness reports into AncestryHealth Powered by Next-Generation Sequencing, which covers 10 traits related to alcohol flushing, caffeine metabolism, lactose intolerance, and others. "Many conditions are the same as offered as in the Core product, plus some additional conditions," noted South. However, "sequencing allows a more comprehensive analysis of those genes for any variants that are associated with the increased risk."
She noted that though traits are not specifically related to health, the company decided to include them as they have been well received by customers. The new service also includes a family health history tool to document and share data about conditions with healthcare providers and family. "We do have plans to continue to update information," South noted. "There will be additional information coming later in 2020."
Quest and PWN
Two important partners in Ancestry's new service are Quest Diagnostics and PWNHealth. Quest has long been Ancestry's laboratory services provider, processing saliva samples on Illumina arrays for its AncestryDNA genetic genealogy service and later its AncestryHealth Core service.
"We definitely understood their capabilities," South said. "They are a fantastic organization to work with and credibly established in the next-generation sequencing and clinical diagnostics worlds."
Quest also helped to develop the next-generation sequencing component of the AncestryHealth service, and its laboratory medical directors are the ones who must tackle questions about variants of unknown significance that might arise when customer's samples are sequenced. South said that Ancestry's strategy vis a vis variants of unknown significance is aligned with different medical professional societies, such as the American College of Medical Genetics. "The interpretation is done through Quest," she pointed out. "It's their lab medical directors who determine whether or not the variants identified meet the threshold for pathogenicity, and to include them in their reports," she said. "The lab report is part of the entire customer experience."
PWNHealth, the New York-based clinician network, is supplying the other significant component of the service by offering customers access to its team of counselors, geneticists, and physicians. It is PWNHealth that carries out an initial review and order for the test and then provides genetic counseling on the back end when the results came in, South said.
"When a customer receives information it will be through a number of different mediums and include genetic counseling support, particularly for customers that have one of these more actionable conditions such as heart disease or inherited cancer risk," she said.
A final piece of the experience is UpToDate, a Waltham, Massachusetts-based subsidiary of the Dutch company Wolters Kluwer that produces evidence-based information to support clinical decision making. Ancestry last year awarded $1 million in the company to support the development of a system to help physicians interpret and decide on therapies based on consumer test results.
South said that the tools developed by UpToDate complement AncestryHealth's offerings. "We wanted to make sure there was a supportive mechanism for healthcare providers to support the next steps," she said. "Healthcare providers are increasingly aware of the role genetics plays in terms of the risk for developing conditions," noted South. She added that many physicians already subscribe to UpTo Date as a service. "The grant to UpToDate was for them to develop educational material for the healthcare providers that our customers might go see," said South. Such material is now being made available as a physician report together with PWNHealth.
A 'dramatic shift'?
AncestryHealth will certainly have its share of competitors in the consumer market, with 23andMe and MyHeritage coming most immediately to mind as potential adversaries. Last year MyHeritage entered the market with a similar albeit array-based offering. Yet other companies that offer consumer-facing, sequencing-based health services such as Invitae and Color Genomics could also be considered competitors too.
South said that Ancestry engaged with genetic counselors, behavioral scientists, and communication experts, and carried out extensive user research to build its AncestryHealth experience, with an emphasis on providing actionable information to customers. "This is not just a lab report," South said. "We have really tried to build a customer experience that makes sure the individual understands the information they are getting and doesn't do it through one mechanism," she said.
The company in a statement this week underscored its technology as another differentiating approach, characterizing its use of sequencing as a "dramatic shift in consumer-initiated testing," which has been dominated by array technology for over a decade.
When asked if that might be a prelude to moving its ancestry testing service over to sequencing too, South declined to predict how things might go. "Whether it's microarrays or NGS, these are technologies that allow you to look at DNA," said South. "NGS has particular value in that it can offer a more comprehensive view, but the algorithms that power our Health or Origins experiences are based on having an accurate analysis of the DNA," she said. Other factors include the cost of analysis and the ability to process the sample volumes that Ancestry handles.
"Can we provide NGS in a scalable and affordable way?" asked South. "As long as the technology can meet those requirements, it's something we are interested in pursuing."