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Consumer Genomics Market Should Pass 'Tipping Point' of 3 Million Samples Tested in 2015

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NEW YORK (GenomeWeb) – The consumer genomics market is on track to see the 3 millionth person test him or herself during the next few months, according to Spencer Wells, director of National Geographic's Genographic Project.

The Genographic Project is one of the four major providers of genotyping microarray-based autosomal DNA testing in the US. The other three firms that provide similar services are 23andMe, Ancestry.com, and Gene by Gene's Family Tree DNA business.

All of these providers have offered autosomal DNA tests for years. But as databases swell with new samples, the value of consumer genomics services is increasing, with benefits for customers seeking to discover new cousins, and for adoptees tracking down their biological birth parents.

It's this payoff that Wells believes will continue to advance the market throughout 2015.

"Word of mouth will continue to be a major driver of market growth," Wells told GenomeWeb. "When enough people have tested that at least one person at a cocktail party is talking about their results enthusiastically, that's when you'll hit the inflection point in the curve and growth will really take off."

Roberta Estes, author of the genetic genealogy blog DNAeXplained, believes that the market is remarkably close to achieving the 3 million number, or may have already done so, noting that 23andMe has stated publicly that it has genotyped 800,000 kits, AncestryDNA and the Genographic Project each has genotyped perhaps more than 700,000, and Family Tree DNA has genotyped close to 120,000 people for its Family Finder autosomal DNA offering alone.

While the 3 million samples tested to date reflect all DNA ancestry testing, including Y chromosome and mitochondrial DNA tests, which are performed using microsatellites, Estes noted that it is the array-based autosomal DNA services that are driving the consumer genomics market.

"Autosomal DNA, with the dual allure of providing ethnicity percentage estimates plus cousin matching ... has provided the consumer tipping point," Estes told GenomeWeb. Unlike Y or mtDNA testing, which can show a direct paternal or maternal line of descent, respectively, autosomal DNA can reveal an individual's ethnic composition, while allowing them to match more cousins, not just those who descend from the same man or woman.

"Autosomal DNA is like a gift box," said Estes. "You don't know what you'll get, but you know you'll get something unique and it will be fun ... and maybe genealogically useful," she said. "And," Estes noted, "the cost is right – under $100."

The growth in the size of these ancestry databases has led to a corresponding rise in the numbers of genetic matches. "One of the goals of genetic genealogy is to find genetic matches and connect with cousins," Blaine Bettinger, author of the blog The Genetic Genealogist told GenomeWeb. "This is much, much easier in databases filled with thousands, and maybe soon millions, of potential cousins," he said. "Because so many people have tested, a person's likelihood of finding a close match is greatly increased."

This increase in matches has also benefitted adoptees searching for their birth parents. Genetic genealogist CeCe Moore said that there have been "significant strides" for people with known parentage searching for their genetic heritage.

"We reached a critical mass in the autosomal DNA databases in 2014 that allowed a very substantial number of adoptees and others searching for information on their unknown biological parents to discover their roots," said Moore, who authors the blog Your Genetic Genealogist. "When we first started working with autosomal DNA back in 2010, the adoptee successes were few and far between."

Another consequence of this surge in genotyped samples has been the ability of providers to reconstruct the genomes of individuals' ancestors by identifying their common, inherited chromosomal segments. For instance, scientists at Ancestry.com's AncestryDNA subsidiary announced recently that they had reconstructed the partial genome of an Alabama farmer who died in the 19th century by relying on the autosomal DNA test results of his descendants.

AncestryDNA also recently introduced a feature called DNA Circles that links descendants of common ancestors together based both on their autosomal DNA test results and paper genealogical research. Estes speculated that as more ancestral genomes are reconstructed in this manner, service providers will introduce new features that inform customers not only of potential cousins, but from whom exactly they descend.

"Someday — not this year, but maybe in five years — when someone DNA tests, they will not only receive their results and a list of matches, but a partially reconstructed ancestral tree based on the DNA they carry and proven genealogical connections of that DNA," said Estes.

Tim Janzen, a genetic genealogy community leader, who together with Moore heads the Institute for Genetic Genealogy, held a similar vision of what the future could bring in terms of ancestral genome reconstruction.

"I think that in the next several years we will see additional work being done in the arena of chromosome mapping where specific DNA segments are linked to specific ancestors," Janzen told GenomeWeb. "At this time this is being done by individual genetic genealogists, but I predict that with time this will be done either overtly or covertly by one or more genetic genealogy companies."

Estes agreed that avid genetic genealogists have been "working with spreadsheets for years" to reconstruct the DNA of their ancestors by gathering the DNA of their descendants proven to be from that ancestor. She noted that a new tool called Lazarus, offered via GEDMatch, a free website that offers tools for DNA and genealogical research, already allows GEDMatch users to generate ancestral genome data.

"This is the genetic version of putting Humpty Dumpty back together again, except it's a very personal Humpty, grandpa, or grandma, or our own ancestors further back in time," said Estes.

According to Janzen, GEDmatch, which allows users to upload and share autosomal DNA data from any one of the major providers for free, has been having an "increasing impact" on the genetic genealogy community, especially since as many as 100,000 people are now actively using the site.

Curtis Rogers, co-administrator of GEDMatch, used the words "explosive" and "tremendous" to describe the growth of autosomal DNA testing, especially since GEDMatch deals exclusively with autosomal DNA. The spike in interest in GEDMatch, created by discussion of the site on genealogical blogs and social media, however, has had consequences, as the site struggles to maintain its services while accommodating more data.

"The requirement for data handling is increasing exponentially," Rogers told GenomeWeb. "Every new user brings a large amount of data that has to be compared to all other users, stored, and be quickly available for use," he said. "The demands on equipment are great and we constantly strive to create cutting edge software technology."

Despite these efforts, the jump in interest, driven by the increasing number of samples genotyped, has created some challenges for GEDmatch. The website has been unable to introduce some programs it would like to add and has had to even temporarily cut back on tools it had previously brought online, Rogers said.

While the basic programs on GEDmatch are free, the site did recently introduce some programs that require considerable computer space. A small donation is required for their use. "The funds from this group of programs are helping us to better handle demand," Rogers commented.

One ramification of the increase in the popularity of GEDmatch and its free tools is a need among amateur genetic genealogists, often referred to within the market as "citizen scientists," to understand how to best use them. This has created an "enormous demand for quality genetic genealogy education," according to Bettinger.

"Although many testers are happy receiving their results, glancing at them, and moving on, many genetic genealogists want to squeeze every bit of information out of their results," Bettinger said. "This is why excellent third-party tools like GEDmatch and DNAGedcom are so popular; they allow us to discover more about ourselves," he said. However, understanding the results of the company testing, and understanding the tools offered by GEDmatch and DNAGedcom, can be challenging, Bettinger noted. As a result, there are "thousands of people who need help deciphering results and third-party tools."

Bettinger pointed out that programs offered through the Genealogical Research Institute of Pittsburgh, the Salt Lake Institute of Genealogy, and Family Tree University, now include DNA courses that allow people to "get the help and information they need."

Given this increase in interest, CeCe Moore said that 2014 was a "banner year" for genetic genealogy education, noting the new courses, as well as the first ever Institute for Genetic Genealogy conference, which was held in Washington, DC, last August.

"It was the first large genetic genealogy conference that tried to bring all of the major genetic genealogy companies together and allowed them all to give major presentations," said Janzen of the event.

Another, perhaps overlooked, ramification of growth in the consumer genomics market is simple awareness, Moore said. She noted that the final episode of the PBS program Finding Your Roots with Henry Louis Gates, Jr., for which Moore acts as an advisor, was devoted exclusively to DNA. The episode, called "Decoding Our Past through DNA," aired on Nov. 25, 2014.

"In a couple of years, it will be the unusual person who hasn't had their DNA tested," predicted Estes. "Five years ago, you had to explain about DNA [testing] and confirm that no one was going to clone anyone."

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