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After Technology-driven 'Year of Inflection,' Consumer Genomics Industry Looks ahead to 2014

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When 23andMe decided to stop offering health-related tests to new customers in early December, it may have created a 2014 consumer genomics market environment defined by what company can provide the best ancestry testing and genetic genealogy experience to its customers.

The Mountain View, Calif.-based company received a US Food and Administration letter on Nov. 22, ordering it to cease marketing its Personal Genome Service until authorized by the agency. On Dec. 5, 23andMe stopped offering personal health interpretations, suspending a segment of its service that had distinguished it from the other major consumer genomics firms who offer array-based services and specialize in ancestry testing, such as Ancestry.com, Family Tree DNA, and National Geographic's Genographic Project.

"The recent FDA action against 23andMe reveals underlying concerns about the widespread consumer use of medical genetic testing," said Spencer Wells, director of the Genographic Project. Wells in October argued publicly that consumer genomics had gone mainstream, noting that the millionth person ordered a consumer genomics test in 2013, a figure he expects will double by the middle of this year.

And, he noted, the bulk of these tests will be run on the Illumina-manufactured microarrays used in all four major consumer genomics providers' ancestry testing services.

"In my opinion, ancestry testing will continue to be the primary driver of growth in the consumer genetic testing industry for the foreseeable future," Wells told BioArray News.

The diminishing cost and higher throughput of array technology was one of the factors that made 2013, in Wells' words, a "year of inflection" in the consumer genomics market, and a year when the "number of people testing has started to grow much more rapidly" — an exponential curve that he expects will continue.

But while 23andMe recently began using a new, custom-designed array, and the Genographic Project is expected to move to a new chip design later this year, the market in 2014 may be less defined by what kinds of chips are used in ancestry testing services, than by the debut of new tools that will help translate clients' microarray data into what Roberta Estes, a professional genetic genealogist, calls an "instant gratification feel-good event."

Estes, who is the author of the blog DNAeXplained, told BioArray News that the consumer genomics market has developed into a "high-tech treasure hunt that every player wins for just a $99 entry fee." And, she noted, customers don't have to understand how genetics works to enjoy finding matches and connecting with genetic cousins.

"For the consumer, having to understand the basics of genetics has been replaced by trusting that the testing company understands how this works and matches you accurately," said Estes. While she agreed with Wells that 2013 was the year that the "consumer genetics snowball turned into an avalanche," she predicted that 2014 will be the "year of technology innovation," where providers will jockey to offer clients better ways to understand their array data.

"We'll soon begin reconstructing ancestors, as well as their population history, not by hand and one by one as we do today, but on a much larger scale," said Estes. "One day, when you take a genetic genealogy test, you'll receive a history of your Y paternal line and where they came from, and when, along with the same information for your mitochondrial maternal line, and a list of your ancestors as determined by autosomal testing," said Estes. "We're doing much of this today, piecemeal, with a combination of tests and tools," she said, noting the introduction of newer Y chromosome sequencing analysis services offered by Family Tree DNA and Full Genomes. "But soon the testing companies will figure out how to better automate this process."

Like Estes, professional genetic genealogist CeCe Moore has witnessed the "huge interest surrounding ancestry testing over the last year." A consultant to the programs Finding Your Roots with Henry Louis Gates, Jr. and Genealogy Roadshow, and author of the blog, Your Genetic Genealogist, she credits "media coverage of genetic genealogy success stories" with this growing awareness.

"Because many of these have a strong emotional component, particularly ones involving family reunions and solving long-standing family mysteries, social media has tended to have a significant impact in their distribution," Moore told BioArray News. "Since so many of us have questions about our family's past, these stories have attracted widespread attention and given people hope that DNA testing may be able to offer answers."

Because of this emotional aspect of ancestry testing, Moore also predicted that the four major consumer genomics firms will introduce "new and improved features to assist their customers to more easily make discoveries about their heritage and family history." Moore noted that early adopters of array-based autosomal DNA testing have worked to develop methodologies and create tools that are applicable to all users and that she is "looking forward to increased education in 2014 in this regard."

And, according to Wells, the availability of such features, plus the increase in the number of people tested, could lead to more of such success stories.

"As the number of people tested increases, the likelihood of finding a match in the databases, a 'genetic cousin,' increases substantially, which increases the utility of the test," he said.

The race to the 'feel good' space

In line with this perspective, Tim Janzen, a genetic genealogist, provided a few more predictions for the coming year.

According to Janzen, 23andMe and Family Tree DNA will probably move to phasing the autosomal data generated on their array platforms before generating lists of genetic matches for their clients.

"This would reduce the number of false matches on their clients' match lists," said Janzen. "A significant percentage of half-identical regions in the 7 to 11 centiMorgan range are identical by state," he said. "Phasing the data prior to generating match lists would eliminate the vast majority of those false matches."

Janzen also told BioArray News that there will be "increasing emphasis on chromosome mapping and linking phased haplotypes to specific ancestors," rather than just haplogroups.

"Ancestry.com may try to do this behind the scenes," speculated Janzen, while "23andMe and FTDNA may try to do this in a more open manner." He also predicted that 23andMe and Family Tree DNA will probably develop tools that will "deliver all of one's matches on any given segment directly to the customer with one or two clicks, rather than the cumbersome process we must go through now to sort that out."

As the big consumer genomics firms find ways to expedite the matching process, there will also be progress in the way they estimate a client's biogeographical origins, Janzen predicted. And, noting the Genographic Project has been designing a new chip, he said that National Geographic will likely introduce a new product this year that will compete more directly with 23andMe, Family Tree DNA, and Ancestry.com. Unlike the arrays used in the other three consumer genomics providers' autosomal DNA testing services, Geno 2.0, the Genographic Project's current chip, was designed to evaluate a customer's deep ancestry with a specific focus on the Y chromosome.

"I predict that the product will offer more atDNA SNPs than Geno 2.0 offers, will still offer a significant number of Y SNPs, and probably will generate match lists like what the other three major companies offer," Janzen said.

While the features that allow customers to learn about their origins and connect with genetic matches will probably improve this year, Estes cautioned clients – and companies – to not abandon the rigor with which they conduct genetic genealogy.

"My concern is that the technological and genetic truth doesn't get lost in the race to the consumer feel-good space," said Estes, noting that reported genetic matches and inferences are sometimes do not hold up under scrutiny.

"I hope that the race to instant gratification in this market space is not a slippery slope to shoddy science, questionable practices and erroneous assumptions, and that the type of consumer tools provided by Family Tree DNA, 23andMe, and [the third party data sharing website] GedMatch become the industry standards in this new genetic sandbox," Estes said.

This year's 'big deal'

While arrays powered the exponential growth in ancestry testing in 2013, the year also saw the debut of two next-generation sequencing-based Y chromosome analysis services, first through newcomer Full Genomes and later through the genetic genealogy juggernaut Family Tree DNA.

For David Mittelman, chief scientific officer of Gene by Gene, of which Family Tree DNA is a division, the introduction of next-gen sequencing-based services will allow the consumer genomics providers to eventually provide "maximal resolution" into a client's ancestry.

"This is not a new idea, everyone knows it is best to get the entire sequence," Mittelman told BioArray News. "However, in the past, it was not feasible," he said. "The big deal this year is that we are able to offer lots of Y sequence in a simple, fast, and cost-effective way."

While the narrative around next-generation sequencing as a technology has often portrayed microarray technology as an older approach that will be replaced or cannibalized by the newer one, Mittelman said that he does not envision such a scenario occurring in consumer genomics.

"I think the technologies well complement each other," Mittelman said. "We recently upgraded to the 24-sample format for our Illumina arrays, and we have long-term investments in array-based genotyping," he said.

Mittelman and Razib Khan, author of the blog Gene Expression and an industry observer, recently co-authored an article in Genome Biology about the future of consumer genomics.

In it they argued that the industry needs to "refine and perfect" the interface between the science and the consumer, to the point where the "technical guts of the operating system become as encapsulated, mysterious and ubiquitous as the magic of an iPhone."

They also note that while ancestry and genealogy may dominate the consumer space in the years to come, it seems likely that a "natural segue" will be made to medical genomics.

"Genetic genealogy is an applied enterprise of phylogenetics, but adding phenotypic information to the rich implicit pedigrees may finally allow for both true and surprising outcomes in regards to health risk prediction and the general interpretation of genome variants," Mittelman and Khan wrote.

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