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Director of NatGeo Genographic Project Claims Consumer Genomics Has Become 'Mainstream'

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Sometime earlier this year, the millionth person ordered a direct-to-consumer genetic test. Most likely, the test was ordered for ancestry or genetic genealogy purposes. It also was likely to have been run on a microarray manufactured by Illumina.

And this milestone is likely to be surpassed next year, when at least one test provider expects the number of people tested to date to double.

"At this point, I suppose we will hit the two-millionth person next year," said Spencer Wells, director of National Geographic's Genographic Project. Based on such numbers, Wells said that consumer genomics has "certainly crossed the threshold from niche to mainstream."

Wells discussed this evolution of consumer genomics during a talk at the Consumer Genetics Conference in Boston last week. Prior to his presentation, Wells spoke with BioArray News by phone.

According to Wells, it is not easy to ascertain how many people have ordered a genetic test to date. However, he said that National Geographic, together with 23andMe, Ancestry.com, and Family Tree DNA — the "big four" of the consumer genomics market — reported at the start of 2013 that they had not yet processed one million samples, but by now are "significantly above" that figure.

Wells estimated that the Genographic Project, a genetic anthropology effort that aims to trace human migration, has tested about 500,000 people since it launched a microsatellite genotyping-based service in April 2005. Last year, it introduced a second version of the service called Geno 2.0 that relies on array-based testing.

Catherine Afarian, a spokesperson for 23andMe, said that the Mountain View, Calif.-based DTC firm has genotyped 400,000 customers since it launched its service in 2007, while a spokesperson for Ancestry.com told BioArray News that the company has processed 120,000 samples since it launched AncestryDNA, its genetic genealogy service, in May 2012.

Family Tree DNA, a division of Houston-based firm Gene by Gene, also offers a microarray-based ancestry testing service, but it differs from the other three large test providers in that it offers a wider menu of assays that test for SNPs or short tandem repeats that may be associated with certain ethnic backgrounds or family relationships.

David Mittelman, Gene by Gene's chief scientific officer, told BioArray News that Family Tree DNA has more than 600,000 customers, and that it has processed more than 5 million discrete tests for the market since it launched in 2000. And there is "lots of room to grow," he said.

"The question of going mainstream is subjective," said Mittelman. "I think that Wells is right that a million or more customers shows definite traction. However, when I think of mainstream, I am thinking of the pregnancy test – that is mainstream."

On the cusp

San Diego-based Illumina has benefited from the growth of consumer genomics. During the company's second quarter earnings call, CEO Jay Flatley said the company expects to generate $50 million in consumer-related revenues this year (BAN 7/30/2013).

Wells attributed the rise in genetic testing demand to the relatively low cost of Illumina's chips, the "power of array-based testing," and the idea that "DNA testing has gone into the psyche" of the public, meaning that people are now familiar with the concept of DNA testing and are interested in the information that it can provide.

And, as those test orders climb, geneticists, both professional and amateur, also stand to benefit, Wells said.

"It's going to give us geneticists so much more power," he said of the growth in testing, noting that it has also "given way to an army of citizen scientists," enthusiasts who are also participating in the sharing and interpretation of array data generated by these services (BAN 4/9/2013).

"My prediction is that it will only get bigger and more powerful," said Wells.

23andMe's Afarian provided several other explanations for this "real momentum in consumer genetics," placing an emphasis on the medical aspects of such testing, rather than the ancestral component that currently dominates the market.

Afarian said that a "general shift towards prevention and personalized care" is driving interest in such testing. This is encouraged by "shifting dynamics in physician-patient relationships as individuals move away from seeing one family doctor their entire life."

Debates about healthcare reform in the US, where the majority of DTC testing occurs, has also elevated consumer genomics in the public mind, Afarian said. Such discussions have led individuals to "more actively manage their own health as they work to understand what changes to the larger health care system might mean for them and their families," she said.

23andMe believes that such shifts in the public's concept of healthcare, combined with a growing interest in ancestry testing, will continue to drive test adoption, according to Afarian.

"If you don't already consider consumer genetics mainstream," she said, "then it is clearly on the cusp of becoming so."

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