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Helix Launches Genomics Marketplace Hoping to Entice Consumers to Repeatedly Query DNA

This article has been updated to clarify that genetic counseling through Genome Medical will cost $149, but counseling is also offered as part of Sema4 and Admera's apps at no additional charge.

NEW YORK (GenomeWeb) – At the launch of the first online genomics marketplace in Manhattan's Chelsea neighborhood yesterday, Jay Flatley said that on his way over from the hotel, he downloaded two new genomics apps ― one that would allow him to explore how DNA impacts his sleep patterns and another that would tell him if he had any traits inherited from Neanderthal ancestors. He had his results in 10 minutes.

Flatley, executive chairman of sequencing instruments provider Illumina, has been trying to crack the formula that would integrate genomics into people's daily lives for around a decade. He believes he's getting pretty close with Helix, a company that encourages consumers to visit its online shop of genomics interpretation apps and "crack your code."

Back in 2009, Illumina launched the first whole-genome sequencing service targeting the consumer market, but the analysis cost $48,000, required a blood sample, and after two to three months, the raw data were delivered through an iMac interface. 

Consumers didn't take to that service, but in subsequent years, the price of sequencing dropped to a level that allowed the technology to be broadly scalable, the accuracy of genomic interpretations improved, and mobile phones got more powerful. "At that time, we had probably only sequenced tens of human genomes," recalled Flately, who is also chairman of Helix's board. "Now, we've sequenced hundreds of thousands of human genomes."

Two years ago, there was a "Eureka moment," and Illumina, Warburg Pincus, and Sutter Hill Ventures invested $100 million into Helix, envisioning a service that would be very different from every other iteration of a company that had tried to capture the consumer market in genomics. The company would perform sequencing, so there would be greater depth and breadth of genomic data on each customer compared to what can be gleaned from microarrays, the technology the first-generation consumer genomics companies like 23andMe and others use. 

Instead of bombarding consumers with everything they could glean from their DNA data at once, the idea was to create an ecosystem that they'd keep returning to throughout their lives to learn different things from their genomic sequence as the need or interest arose. "Choice matters," Helix CEO Robin Thurston said. "When somebody might need these products might be at very different times in their lives.”

But in order to entice consumers to keep coming back to their DNA data, participation had to be easy (customers give a spit sample instead of blood), the cost of entry had to be low, and the results would have to come quickly, some cases in real time. "We wanted to build an ecosystem of application developers, and one that captured the imagination of those developers," Flatley said.

Within the app marketplace, consumers can get their exome sequenced for $80 from Helix, but then pay for apps, developed by a dozen partner companies, that interpret their DNA data in the context of their health, fitness, nutrition, recreation, family, and ancestry. For example, like Flatley, consumers can pay $29.99 to download an app from Insitome that tells them which traits they may have inherited from Neanderthal ancestors, such as skin pigmentation, the ability to repair sun damage, learning capabilities, and torso shape. For $24.99, they can download SlumberType from Exploragen, and find out how their DNA might impact sleep patterns.

"We believe there are going to be killer apps in the consumer space," Flatley said. "We don't know what those exactly are yet, but we're convinced that over the next couple of years we're going to discover what those applications are."

Currently, in the health category, Admera is offering two apps for inherited cholesterol ($124.99) and diabetes testing ($149.99), and for women who are starting to think about family planning, Sema4's CarrierCheck app enables screening for 67 conditions for $199. Both of these offerings involve physicians ― not customers' own doctors but licensed practitioners from an independent third party network ― who evaluate the customers' health histories before they can get their results through the apps. 

Physician involvement ensures that these products don't raise red flags at the US Food and Drug Administration, which generally does not allow direct-to-consumer marketing of health-related genetic tests without premarket review. The FDA, however, decided a few years ago to allow DTC marketing for carrier testing when providers follow certain requirements, and the agency also authorized 23andMe's ability to directly sell to consumers a handful of tests for gauging disease risk.  

Other options in the app marketplace include an ancestry product from National Geographic, which worked closely with Helix to test out the app-based strategy; a variety of apps for weight management, meal planning, and fitness based on DNA information; a DNA-based taste profiling app for wines from Vinome; and a product from DotOne that lets customers create a personalized scarf based on 33 SNPs.

If customers have questions about the results they received through any app, for $149, they can receive genetic counseling through Genome Medical, a telemedicine network for genetic counselors and physicians. Customers of health-related apps offered by Sema4 or Admera can receive genetic counseling at no extra cost through a third party network.

Detractors of the DTC genomics model have long worried that without expert intermediaries to help consumers put genomic interpretations into context in terms of their lifestyle, family history, and other medical factors, that they could forgo treatment or insist on unnecessary treatment.

Studies have shown that genomic information doesn't negatively impact consumer behavior. In fact, some studies suggest that genomic information doesn't impact behavior at all, which is something Helix is hoping to change with greater access to counseling and future apps that will have an educational component. "We absolutely believe it's our role to help educate the market," Thurston said. "We need to tell the story about the marketplace and why leveraging your DNA on a daily basis is important."  

Detractors of the consumer genomics industry have also questioned the science underlying testing that falls in the recreational category, for example, tests that claim to identify one's taste profile for wines or identify one's genetic response to exercise. In this regard. Thurston said that Helix vets the scientific underpinnings that app developers base their tests on and evaluates the claims they're making about the product.

"After the product is built, we go back through the process to make sure that it really did the … things they said they were going to do," said Thurston, though he didn't detail the criteria the company uses to decide when an app passes muster in terms of clinical validity and utility.

The app developers have to detail the scientific publications underlying the genomic claims they are making about their tests. For example, DNAFit last year published a study in Biology of Sport where it claims to show that when an individual is matched according to genotype to the most appropriate training modality, it results in more impactful resistance training. However, within DNAFit's MuscleBuilder app, the company also tells customers that "environment and how often you exercise plays a large role in athletic and fitness potential. Individual genetic variants play a very small role."

Similarly, Vinome provided Helix with data showing that its algorithm could match people's DNA-derived taste profiles with the wines they might enjoy. Despite criticism that this type of testing lacks scientific basis, Helix is satisfied that Vinome is presenting the data underling its service truthfully after vetting the available research.

"Not everything in genomics has to be serious," said James Lu, Helix co-founder and senior VP of applied genomics. "Not everyone is interested in knowing their cancer or cardiovascular risk. … A big part of the education of the general population is going to be about making genomics more accessible to people and make them understand it better in the context that they care about."

Later this year, Invitae, Mayo Clinic, Geisinger, WellnessFx, Kindara, Precis.ly, and HumanCode will also launch offerings within Helix's app marketplace.

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