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For Consumer Genomics Market, 2014 was a Year of New Features, New Players, and 'Unmatched' Sales


NEW YORK (GenomeWeb) – Over the past 12 months, the pace of change in the consumer genomics field has been relentless, as companies have seen their databases swell with hundreds of thousands of new genotyped samples, introduced diverse offerings, and adjusted to the presence of new firms.

One example of this unprecedented growth is, which has marketed a genetic genealogy service through its AncestryDNA subsidiary for the past two years. In 2014, the Provo, Utah-based company not only surpassed 500,000 genotyped members, but achieved "unmatched month-over-month increases in sales," said Catherine Ball, vice president of genomics and bioinformatics at AncestryDNA.

While it engages more customers, AncestryDNA has rolled out new features to support its mission of "helping people discover their pasts and learn about themselves in the most meaningful ways." Ball noted that AncestryDNA recently launched DNA Circles, a tool that links AncestryDNA members with the same common ancestor, creating a ring of customers who are related.

"DNA Circles required us to utilize our unique collection of pedigrees and to develop new analysis methods," said Ball of the new feature, adding that the company leveraged its database of genotypes to develop a "highly accurate genotype phasing method, to screen out false positive instances of identity-by-descent, and to very accurately predict genetic relationships between our customers."

AncestryDNA's rapid expansion prompted Ball to describe the firm as the "fastest growing direct-to-consumer DNA testing service in the world," attributing the service's rise to having access to millions of online pedigrees, as well as a unique reference collection of DNA samples. It's an assessment that at least one industry observer agrees with.

"As far as the sizes of the databases, AncestryDNA has been saying that they have 500,000 samples for many months now," said CeCe Moore, a genetic genealogist. "According to estimates, they sell between 30,000 and 50,000 kits per month, so they are perhaps closer to 800,000 at this pointand closing in fast on one million," Moore told GenomeWeb. "They almost certainly have the largest database now or will early next year."

And yet this growth is not necessarily to the disadvantage of other entrenched consumer genomics firms. Bennett Greenspan, CEO of Gene by Gene, said that things have been moving "very nicely" for the Houston, Texas-based company's Family Tree DNA division. Like AncestryDNA, Family Tree DNA offers a microarray-based autosomal DNA testing service called Family Finder, in addition to many other ancestry-focused tests.

"Family Tree DNA was again up over last year, despite very aggressive players working hard to increase their market share, and we have achieved this without VC money or loans and by continuing to make a profit year over year," Greenspan told GenomeWeb.

Over the past 12 months, Family Tree DNA has expanded its services and launched new products. In April, the company upgraded myOrigins, the biogeographical analysis portion of its Family Finder service to relate its customers' ancestry to 18 different populations. And in March, the company officially launched BigY, a next-generation sequencing-based service that allows users to explore up to 13 million base pairs of the Y chromosome, including 30,000 known SNPs, at an average coverage of between 55x and 80x. As the Y chromosome is inherited patrilinealy, there is interest among some genetic genealogists for a test that will help them more clearly understand and distinguish their customers' paternal ancestry from one another.

According to David Mittelman, an entrepreneur and consumer genomics advocate, the roll out of BigY was a "big success," with "thousands of kits sold to genealogists and now hundreds being sold to academic research institutions." He also noted the emergence of an "ecosystem of tools" developed around the test, specifically referring to YFull, a Moscow-based informatics company that for $49 analyzes Y chromosome data produced by BigY and competitive services, such as FullGenomes' Y-Elite and Y Prime tests.

Tim Janzen, a genetic genealogy community leader, who together with Moore heads the Institute for Genetic Genealogy, said that the launch of BigY "impacted the Y chromosome market dramatically" in 2014.

"It is clear to me that we will look back at 2014 as the year in which there was a major transition from doing only Y STR and Y SNP panels to doing large-scale Y chromosome sequencing," Janzen said.

"Both FullGenomes and Family Tree DNA have played a huge role in this area," said Janzen of the rival offerings, noting that Family Tree DNA "seems to have found a sweet spot with the price of BigY, which has made it affordable to many genetic genealogists," though he added that FullGenomes' Elite test remains "superior" in terms of the number of novel Y SNPs that are being discovered per test.

Vadim Urasin, a team member at YFull, said that the informatics company started its operations three years ago, allowing customers to upload their NGS-generated Y chromosome data for genealogical purposes. During the past year, though, it has gone from serving tens of clients per month to two hundred clients per month, a rate that the firm anticipates could double in 2015.

"Our most interesting offer is placing our clients on our Y-Tree," Urasin told GenomeWeb. Y Trees are, in essence, Y chromosome pedigree charts, where each branch, differentiated by certain mutations, is named with a letter and deeper branches are labeled with numbers and letters to reflect their relationship to each other. By being placed on YFull's Y-Tree, clients can learn about their specific line of deep ancestral descent, with hints as to their biogeographical origins.

"Our Y-Tree grows twice per month for hundreds subclades and SNPs," said Urasin, adding that each time the company updates its tree, it reassigns the positions of all of its clients. "This is some kind of genealogical tree for all of humanity," Urasin said.

While NGS-based Y chromosome testing has been successful in 2014, given its sole focus on the Y chromosome, Mittelman seemed skeptical that it could become as popular as the microarray-based autosomal DNA testing services.

"BigY ... is an advanced test and I don't think it will bring consumer testing mainstream," he said.

And yet next-generation sequencing is emerging as a technology that can challenge microarray dominance as the platform of choice for autosomal DNA testing. Toward the end of the year, Centrillion Biosciences introduced its TribeCode DNA Ancestry Test.

Janet Warrington, senior vice president of R&D at the Palo Alto, Calif.-based company, told GenomeWeb that TribeCode relies on next-generation sequencing to provide clients with "ethnic composition analysis of the autosomes, complete sequence coverage of mitochondrial DNA, and for men, calling chromosome Y haplogroups using important loci."

The interpreted results are viewed via an interface using sequence data representing more than 60 populations worldwide. The list price for TribeCode DNA Ancestry Gold is $99, Warrington said.

"Our goal is to deliver affordable DNA ancestry results so that people can have first hand experience with the most cutting-edge genomics," Warrington noted. "While array-based platforms may be adequate in some cases, we believe that with the right sample preparation protocol, NGS-based platforms offer several advantages including scalability and high data density," she said.

Warrington added that Centrillion achieved its "soft launch goal" in December and anticipates a full launch next year.

For consumer genomics firm 23andMe, the year 2014 could arguably be described as one of transition. In the fall of 2013, the US Food and Drug Administration sent the Mountain View, Calif.-based firm a warning letter, requesting that 23andMe cease marketing its Personal Genome Service to customers because it had failed to meet the agency's requirements for medical devices. The company then halted its reporting of health-related information to new customers, instead focusing exclusively on reporting ancestry information.

Company spokesperson Catherine Afarian told GenomeWeb that 23andMe's ancestry offering remained "consistent" in 2014, as Ancestry Composition and DNA Relatives continue to be some of its most popular features. "We ended 2013 with about 550,000 genotyped customers and we'll be ending 2014 with more than 800,000 genotyped customers," Afarian said. "All US customers who joined in 2014 received our ancestry-only offering that also includes access to raw, uninterpreted genetic data," she added.

To bolster its ancestry testing services, 23andMe in October announced a collaboration with online family history company MyHeritage. Under the terms of the agreement, 23andMe clients will have access to MyHeritage's family tree tools and MyHeritage will market 23andMe's test to its 70 million registered users. The companies hope to integrate their offerings in 2015.

"We are very excited about our collaboration with MyHeritage that will provide an improved experience for customers looking to build family trees," said Afarian.

While 23andMe engages the ancestry testing market, the firm is "fully committed" to completing the regulatory review process with the FDA and is actively working to do so, Afarian said. She noted that the firm currently has a 510(k) application for a Bloom's Syndrome report under review by the FDA, and that once cleared, this submission could provide a foundation for future submissions. Afarian declined to speculate on timing for when the process will be completed.

While the health portion of 23andMe's offering remains suspended in the US, the company has been eager to make its Personal Genome Service available in other countries. In October, the company announced it would sell 108 health-related reports and ancestry testing services in Canada. And earlier this month, the firm rolled out its Personal Genome Service in the UK. For £125 ($200) British customers can find out their genetic risk for 11 health conditions, whether they have 43 inherited conditions and 38 traits, and learn how they are likely to respond to 12 drugs.

Afarian said that 23andMe is currently evaluating opportunities for other markets, but did not elaborate.

The possibility that 23andMe will eventually reintroduce health-related information to its Personal Genome Service in the US has led some industry observers to predict a growing convergence between the personalized medicine and ancestry testing segments of the market. That convergence may also be on's mind as well, as earlier this year the firm sent out a survey to customers to gauge what kind of family health information might be of greatest interest to them.

"It's been a rough year for the medical side of consumer genomics, but at least two big companies are on that path, and I bet that 2015 will prove exciting as we may finally witness the reintroduction of medical" into consumer genomics in the US, Mittelman said.

That prediction is not a new one for Mittelman. In November 2013, he and Razib Khan, another consumer genomics advocate, discussed the potential for the ancestry testing and personalized medicine segments to become increasingly intertwined in a Genome Biology commentary.