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Forensic Genomics Market Advances Due to Consumer Databases, Technology Innovation

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NEW YORK – As 2020 dawns, the forensic genomics market is poised for growth as companies aim to harness the power of consumer databases coupled with advances in sequencing.

For some industry observers, the health market has often been seen as the next logical step for companies that offer consumer genomics services. 23andMe served the market from the launch of its Personal Genome Service in 2007, and Ancestry and MyHeritage last year began offering their users health information in addition to ancestry results.

However, the recent purchase of the genetic genealogy database GEDmatch by San Diego-based Verogen for an undisclosed sum has underscored forensics companies' increased interest in capitalizing on the vast amounts of data generated by consumer genomics firms to solve cases. 

That interest has coincided with increased competition between a number of companies, each of which has its own approach to meeting the needs of the market, including Houston, Texas-based Othram; Reston, Virginia's Parabon NanoLabs; and vendors like Thermo Fisher Scientific, which last year had its Applied Biosystems Precision ID System approved by the US Federal Bureau of Investigation for undertaking mitochondrial DNA analysis for the National DNA Index System.

GEDmatch, based in Lake Worth, Florida, is a free genetic genealogy resource that allows users of services like 23andMe, Ancestry, MyHeritage, Family Tree DNA, and others to upload their data in order to use a variety of tools related to ancestry and cousin matching. To date, roughly 1.3 million people have uploaded their kits to the service, and it continues to add about 1,000 people daily.

While GEDmatch was not originally intended for use by law enforcement, investigators did begin to take advantage of its resources to solve cases, notably using it to track down the Golden State Killer in 2018. GEDmatch was not the only genetic genealogy resource that somewhat unwittingly found itself drawn into the forensic genomics market. Last year, Family Tree DNA acknowledged it too had made its database available to federal law enforcement to solve cases. Partnerships with law enforcement were becoming a source of revenue for some genetic genealogy firms.

The interest by law enforcement in using genetic genealogy databases put additional pressure on GEDmatch's owners, though, as customers reacted to the repurposing of their data. The company introduced new options to allow users to opt into law enforcement searches. In a short amount of time, what had been a rather niche endeavor — using microarray data generated by consumer companies to answer genealogical questions — became a highly contested area of public interest. 

"GEDmatch found themselves caught up in a cyclone of controversy that they could not have anticipated," said Roberta Estes, a genetic genealogist and author of the blog DNAeXplained. "They tried to respond in a way that would quell the firestorm, but regardless of their actions, it seemed there were always outraged calls for more, or less, or something different," Estes said. "The genealogical community itself was widely divided, torn from stem to stern about this topic, with relationships damaged beyond repair."

For years, different companies had been courting GEDmatch, hoping to acquire the database to improve their market standing. Founder Curtis Rogers said via email that he settled on selling the firm to Verogen to secure the future of the site. He also cited his age, 81, as a factor.

"Over the years there have been many companies interested in talking to us," Rogers said. He added that he expects Verogen to continue the "same consumer-oriented philosophy and traditions" of GEDmatch, and that the firm will invest in the tool to improve users' experience.

Going forward, Rogers will consult with the company to "get programs implemented that were not possible previously," he noted.

Verogen has approached the forensics market mostly as a vendor to date. Spun out of Illumina in 2017, the company offers next-generation sequencing instruments, supplies, and software to forensics labs. Last year, the FBI also approved its MiSeq FGx Forensic Genomics System for generating DNA profiles for the National DNA Index System. The acquisition of GEDmatch therefore marks something of a new direction for the firm.

Verogen CEO Brett Williams said that the company wishes to roll GEDmatch into a "comprehensive forensic genetic genealogy solution" for its customers, with an anticipated release later this year.

"GEDmatch's genetic genealogy database allows Verogen to add a missing component to its product offering and to provide an end-to-end solution for customers while increasing privacy protections for GEDmatch users," Williams said.

By selling the company to Verogen, therefore, GEDmatch was able to offload some of the pressures it had incurred as law enforcement and forensics labs took a greater interest in the database, especially in regards to upgrading its tools and allaying privacy concerns. For Verogen, it offered the ability to secure its place as a biometric human identification company.

"I honestly believe Verogen is the ideal buyer who will continue GEDmatch for the benefit of the entire genealogy community," said Rogers.

Verogen has pledged to continue GEDmatch's policy of allowing users to opt in to make their data searchable by law enforcement. "It's in Verogen's interest to build the consumer database knowing that a certain percentage will also choose to opt in for law enforcement use," said Rogers. "The larger the consumer database, the more matches for its users," he said. "The larger the law enforcement database the more violent crimes solved and prevented."

Williams noted that the company has no plans to limit access to the database, so that investigators who used it previously will retain their access to GEDmatch in the future. He said GEDmatch users will see new features and improvements in usability and functionality in coming months. "Verogen's forensic genetic genealogy product in development for forensic laboratories will actually provide more privacy protection for users of GEDmatch, as the test is focused on kinship analysis for forensic purposes," he said.

The 'why now?' moment

The GEDmatch-Verogen deal was not an isolated event. At the end of November, Othram, a new forensic genomics laboratory with in-house next-generation sequencing capabilities, introduced DNASolves.com to solicit users of consumer genomics services to upload their data for the expressed desire to help law enforcement solve cold cases.

"Family Tree DNA is doing the opt-out model [with regards to law enforcement], GEDmatch is doing opt-in," said Othram CEO David Mittelman. "I thought there should be another model," he said. "Since we do nothing but law enforcement, there is nothing to opt out of."

Mittelman, a former CSO at Family Tree DNA parent Gene by Gene, has been riding market trends for a decade. He cofounded Othram in 2018, and the firm opened its lab in April 2019. "All I have ever done is try to build DNA tests and move DNA testing technology into the mainstream," Mittelman said. "I have enjoyed the consumer genetics and genealogy side, and I certainly enjoyed the medical side, but I saw the forensics market as a market that was underserved and could benefit from the technology that has been widely used and embedded in consumer and medical testing," he said. "It made sense to bring that technology over."

Mittelman credited the developments in the market with both the success of consumer genomics as well as advancements in next-generation sequencing technology. By some estimates, 30 million people have taken an array-based consumer test to date. Meantime, the drop in the price of sequencing, plus ongoing innovation in the field, means that it is now possible to perform whole-genome sequencing of highly degraded samples from crime scenes and then scour large databases to find genetic relatives, constructing genealogies to identify victims or perpetrators.

It's an interesting twist for the consumer market, where for years, some assumed that sequencing would someday make inroads versus array technology. Yet efforts to bring sequencing-based consumer services to market so far haven't made much of a dent in a business dominated by Ancestry, 23andMe, and others. Mittelman noted the decision of Veritas Genetics to shutter its US operations in December. Earlier in 2019, Helix, which had sought to make sequencing the basis for a large, consumer-facing ecosystem of applications, restructured to focus on health research partnerships. 

"In 2019, sequencing failed to penetrate the consumer market," said Mittelman. "But forensics is an interesting market where sequencing is superior to arrays," he said. "It is not just that sequencing gives you more information, in a lot of cases it's the only way to get information," he added. 

Othram's approach is called Forensic Grade Genome Sequencing. According to Mittelman, array technology has a "high failure rate" when it comes to forensic samples, making sequencing the go-to technology when it comes to working with these kinds of samples.

"You really need special methods," said Mittelman. "We have developed proprietary methods to adapt the worst kinds of DNA to sequencing," he added. "I think in the long term forensics will only work with sequencing, while for consumer, arrays are good enough."

Othram has not yet published on its techniques, but eventually aims to do so, Mittelman said. While the company hones its sequencing capabilities, it is also hoping more customers of consumer services will be moved to upload their data to DNASolves.com. He noted that only a small percentage of those tested have elected to upload data to GEDmatch, meaning the potential exists to grow a new database of a different set of users interested in helping law enforcement.

"Rather than target a small number of people who are genealogy power users, and ask them to help solve crime instead, it seemed to me that you could approach the 30 million who have tested and tell them if you have tested and feel like getting involved, this is how you do it," said Mittelman. "You don't have to be a power user in genealogy to make a difference in crime solving."

Firms like Othram, though, are making use of genetic genealogy in their services. In October, Othram announced the formation of its own forensic genetic genealogy team that includes forensic genetic genealogists Anthony Lukas Redgrave and Lee Bingham Redgrave. Parabon NanoLabs, meantime, hired CeCe Moore, a genetic genealogist who has advised the PBS program Finding Your Roots with Henry Louis Gates, Jr. to head its genetic genealogy team in 2018.

"She was keenly aware that if you could get SNP genotypes from forensic samples, she could apply her genetic genealogy skills there," said CEO Steven Armentrout. Founded in 2008, Parabon NanoLabs entered the forensics market in 2015 with Snapshot, a DNA analysis service that provides users with genetic genealogy results, DNA phenotyping information, and kinship inference. While Parabon NanoLabs had worked with Moore for a few years, they decided to formalize the relationship in 2018, as it became clearer that by pairing its technology resources with her genetic genealogy skills, they could solve cases that had baffled law enforcement for decades.

"It was really the covergence of all of those things," said Armentrout. "The growth of the databases, the development of her skills in genetic genealogy, and then the possibility to do SNP genotyping in forensics," he said. He noted that the company employs Illumina SNP arrays and next-generation sequencing in its services.

'No rules, no playbook'

For consumers, the branching out of genetic genealogy into forensics has caught some off guard. Where they once saw using consumer genomics as a way to learn more about themselves, they are now caught up in murder cases and wondering about what access the FBI has to their data.

"The average genetic genealogist had no idea this was possible," said Leah Larkin, a genetic genealogist and author of the blog The DNA Geek. "Technically possible, maybe, but the consensus was that our tests are not compatible with law enforcement tests [as] they use [Combined DNA Index System] markers, we use SNP data, and our DNA tests lack chain of custody so are not admissible in court.

According to Larkin, it was improvements in the technology for analyzing degraded DNA, plus the growth of the GEDmatch database spurred on by significant growth in consumer genomic testing, that made it even possible for a case like that of the Golden State Killer to be solved.

Interestingly, publicity around that case might have actually negatively impacted kit sales. Larkin has noted the consumer market "hit an inflection point" around the time of news coverage of the Golden State Killer case. Illumina, which manufactures the bulk of the genotyping arrays used by consumer genomics companies, has acknowledged a decline in consumer-related revenues in recent quarters, but projected eventual renewed growth in the market.

"Combined, AncestryDNA, 23andMe, and Family Tree DNA were growing at about 48,000 new kits per day before [the Golden State Killer case]," Larkin said. "My most recent calculations have that figure at about 32,000," she said. "That's a 33 percent decline."

According to Estes, the same issues that GEDmatch faced in regards to law enforcement have been felt across the field as a whole. "There was no playbook, no rules, and no guidelines because this had never been done before," Estes said. "The open sharing environment so cherished by genealogists was the same open environment that allowed law enforcement to identify the Golden State Killer."

She noted that consumers have been more agreeable to using these services to identify biological parents of adoptees, even though not all biological parents wish to be found. "The great irony is that identifying deceased victims and perpetrators uses the exact same technology and search process as identifying biological parents," she said. But the use of consumer genomics databases by law enforcement has been viewed with greater scrutiny.

Because of this, Larkin said that she wasn't surprised that GEDmatch was sold to Verogen. "The ethical issues and controversies over law enforcement were more than they bargained for," she said. She noted that Ancestry and 23andMe might also come under increased pressure from law enforcement for access, given the sizes of their databases are much larger than GEDmatch or Family Tree DNA. Both companies in the past have vowed not to voluntarily cooperate with law enforcement.

According to Larkin, it is now up to firms like Verogen and others who are tapping into the resources of consumer genomics to show the way forward so that these issues are addressed.

"Informed consent is the key to all of this," Larkin said. "Not only should users provide explicit consent before they are matched to criminal samples, they should be apprised of the pros and cons before they make a choice," she said. Larkin also called for legislation to protect databases from law enforcement intrusion, and to prohibit anyone, including government agencies, from doing array testing on anyone without their consent.

There might be some payoffs for consumers in the end, though, as money from the forensic genomics market helps to support improvements in services and to work through ethical issues.

"I don't have any serious concerns about Verogen at this point," said Tim Janzen, a genetic genealogist. "As long as Verogen provides GEDmatch with adequate financial backing and helps it improve its genetic genealogical features, then I think it should be a fine partnership," he said.

Estes said initial signs have been positive, noting that Verogen provided the ability for people to immediately delete their kits following the deal and that it implemented special rules for EU customers to comply with GDPR. The company also said it will resist subpoenas to allow law enforcement up obtain matches for people in the database who have not opted into law enforcement matching. She also noted there would be improvements in database security.

"As a genomics company specializing in human identification, they know better than most how to identify and plug vulnerabilities," said Estes. "I feel good about that."

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