This story has been updated to clarify that medical apps must be ordered by doctors, not marketed to doctors.
NEW YORK (GenomeWeb) – Helix, a company that wants to mainstream genomics through mobile applications, is eyeing a summer launch for a slew of products — some of which will provide customers information about their risk for serious illnesses, and some of which will have a more recreational purpose.
Since its launch in mid-2015 backed by Illumina, Warburg Pincus, and Sutter Hill Ventures, the San Francisco-based firm has inked deals with National Geographic, Mayo Clinic, Duke University, Good Start Genetics, Exploragen, Vinome, Invitae, and Mount Sinai. These organizations are working with Helix to develop apps that interpret customers' DNA in the context of genealogy, fitness, nutrition, healthcare, and carrier screening. There will also be products for entertainment, such as an app that matches wines to your DNA-based taste profile.
When a customer orders one of these apps, Helix will mail her a spit kit and sequence her exome in its CLIA-certified lab. The partner organization then interprets the specific portions of the sequence related to the information the customer is interested in and relays that data through the app. For example, the wine company Vinome will interpret genetic markers related to taste and identify for customers wines that match their profiles.
Meanwhile, Helix stores customers' exome data in case they want to order another app in the future to explore a different aspect of their genetics, such as ancestry or disease risks. Customers must go through a consent process each time for releasing data from different parts of their exome, but they can also delete their data and accounts at any time.
In a presentation last week at the Precision Medicine World Conference in Mountain View, Calif., Justin Kao, Helix's senior VP of business development and partnerships, estimated that given the plummeting cost of sequencing and storing DNA data, in the next five years millions of healthy people are going to be sequenced. "I don't think it's a debate anymore about will it happen or really when it will happen," he said. "It's really … what's the best way for it to happen?"
The company has projected that the initial sequencing and app-based interpretation will cost around $200, a price point that Helix believes more healthy people — those who otherwise don't have a medical reason to seek more expensive testing — will choose to pay out of pocket. Helix is also betting that its app-based model will uncover novel uses for genomic data and enable a responsible path to delivering this information to consumers, by placing them in charge of what they want to learn: something "fun" (and some might argue light on scientific validity), like their wine tasting profile, or something that can impact their future wellbeing and that of their families, such as their hereditary risk for breast cancer.
Kao acknowledged that next-generation sequencing will undoubtedly reveal incidental findings that consumers may not want to know, and the app-based model offers a way to address this. A consumer may only want to know where she came from but may find out about a BRCA mutation, he reflected. "Well you shouldn't have to make that decision, if you're interested in where you came from, no one should be interpreting your BRCA variant."
In November Helix began offering National Geographics' ancestry product Geno 2.0. Customers can order the spit kit through Helix and view their results online, although not yet through Helix's platform. This is allowing Helix to test out its ability to handle a large product launch, so by summer it can smoothly introduce multiple apps across all six categories.
The aim is to give consumers choice, Helix CEO Robin Thurston said in an interview at the PMWC. But launching a diverse product pipeline will also test Helix's ability to manage the challenges of providing genomic interpretations, often based on a still-nascent and evolving science, to a broad consumer audience.
On the regulatory front, although the US Food and Drug Administration exercises enforcement discretion over most laboratory-developed tests (LDTs) overseen under CLIA, the agency has in recent years cracked down on direct-to-consumer selling of genetic tests for health conditions. Except carrier screening tests sold DTC, the agency requires that health-related genetic tests undergo premarket review before being offered without a physician's prescription. The agency, meanwhile, has left alone DTC genetic tests for ancestry or other entertainment purposes.
Partners developing an app in the medical category "will use an LDT flow," Thurston said. Helix's lab, where it analyzes customers' DNA, is CLIA certified and is on the path to be accredited by the College of American Pathologists.
"No matter what [app] product you come in on," Kao said, "you had a clinical exome run" in a CLIA lab. He added that Helix has engaged with "key stakeholders" in Washington, DC, "to try to take friction out of the system" when it comes to regulation.
Thurston further noted that medical apps will have to be ordered by doctors. This is the route that Invitae will take when it launches an app with Helix this year that allows customers at low risk for cardiovascular disease and cancer — who wouldn't be candidates for genetic testing according to treatment guidelines or insurers' criteria — to learn their risks for these diseases.
Genetic testing businesses in general have been operating in an uncertain regulatory climate for some time. The agency said two years ago that it planned to extend oversight over all LDTs and issued a draft guidance. After the November US elections, however, the agency said it would hold off on finalizing the guidance and await input from the Trump administration, which has generally promised less regulation.
Before the new administration entered the White House this January however, the FDA released a discussion paper to outline its current thinking on LDT regulations based on stakeholder input. The ideas in the paper aren't enforceable, but it demonstrates the agency's willingness to engage with industry players and address their concerns about burdensome regulations.
"Given the change in the administration and everything going on in Washington right now, it's very hard to predict where the FDA and key stakeholders will go," Kao admitted. He added, however, that Helix has carefully reviewed FDA's draft guidances on NGS testing, which outline ways in which labs and diagnostics companies can establish analytical validity of certain tests without having to submit them for premarket review and demonstrate clinical validity through public variant databases recognized by the agency.
The FDA has said it wants to finalize those draft guidances on NGS testing this year and issue other guidelines as well. "We're big believers that next-generation sequencing is the highest quality and the best way to deliver this information," Kao said.
"Arrays paint an incomplete picture," he continued. "While they are good enough for some applications, for anything in the health and medical space, and for many things in the other categories as well, we simply don't think that's good enough anymore."
The consumer genomics market started around a decade earlier with companies like 23andMe, Decode Genetics, and Navigenics using microarray-based genotyping platforms to scan for hundreds of thousands of SNPs. Although Helix is targeting the consumer space using a different model than those early players, the firm and its collaborators will be competing with the likes of 23andMe, which has genotyped more than 1 million customers and sells reports on ancestry, wellness, traits, and carrier status.
In any industry … any time you have more data, you're going to run into questions about that data.
A few years ago 23andMe had to stop marketing many of its health-related reports directly to consumers due to FDA regulation. However, at the PMWC last week, Richard Scheller, 23andMe's CSO and head of therapeutics, said the company is working with the agency to launch some of those reports again soon.
Meanwhile, 23andMe CEO Anne Wojcicki said at a conference last year that the firm had decided against developing a consumer-facing NGS product. The reality is that NGS testing will reveal variants with unknown or unclear association to disease, which can be hard to communicate directly to consumers. It's a difficulty that the entire genetic testing field is grappling with and one that 23andMe surely thought about when deciding not to bring an NGS product to the DTC space.
Genetic testing labs employing NGS acknowledge that greater use of NGS is revealing more variants of unknown significance, and that even for known variants there may be discrepancies in how different labs interpret them. Some firms like Invitae are addressing this challenge through data sharing, and by bolstering bioinformatics capabilities and in-house expertise.
While Helix's partners will largely be responsible for classifying variants detected through sequencing, the company's scientific review team will also be evaluating the claims its app partners make. "We want to take an approach across all of the categories to ensure that not only what is being communicated to the customer is accurate, but that it doesn't oversell what the product does," Thurston said.
He likened Helix's approach to Apple's, which last October cleared out more than 47,000 "problematic or abandoned" apps from its store. "Our goal is to create that very high bar for the types of products that sit on the platform," Thurston said.
One of the biggest criticisms of early consumer genomics firms was that when customers got tested through different services, they got conflicting and confusing risk assessments. Because these companies were using different genotyping platforms and considering different SNPs, one company might report a person was at low risk for rheumatoid arthritis, for example, while another might say she was at high risk.
Helix is hoping to bring more standardization since app customers will be sequenced on the same platform. "Every partner will be building off the same quality exome data and eventually the same genome data," Kao said.
Thurston added that while there will be differences between apps that claim similar uses — since that's how some of the companies "will view their value added" — Helix's scientific review team will also consider these differences in context.
For entertainment apps it may not be unreasonable if different apps come to different conclusions based on their own algorithms, Thurston said, just as Amazon Prime and Netflix might conclude the same customer likes different TV shows.
On the other hand, "the benefit of many partners building off the same process is that you should not get two different interpretations about how you metabolize something like Vitamin D," he added, providing an example of how genomics apps in another context may require more standardization.
As NGS testing becomes more accessible and affordable to perform at scale, these kinds of ethical and scientific complexities will also grow. The leadership at Helix acknowledges this but believes it has found a way to responsibly bring a still-nascent science to the masses.
"In any industry … any time you have more data, you're going to run into questions about that data," Thurston said. "Our process and the reason why we want to ensure that all stakeholders, government and industry, are really involved and that we're participating with them, is to ensure that we're ready for [those questions] as they come."
Despite the challenges it brings, the company is betting that NGS will accelerate society's understanding of genomic data and its utility to people across different contexts. "You know you're going into that frontier and those challenges are going to be presented to you in a number of ways," Thurston said. "That's certainly not a reason to not go to the frontier."