Helix offers customers access to a lifetime of DNA analysis
Helix, a spin-off from San Diego-based genomics giant Illumina, has launched a platform offering access to 18 personalised genomics lifestyle products for customers who take a $80 DNA saliva test. The sample is sequenced and the client's genome is saved in the cloud, from which it is accessible via an API. While Helix said the platform will democratise the DNA market, critics have argued it offers little to people who are generally healthy.
Which could actually have the opposite of Helix’s intended effect, he cautions. If people get back results that don’t wind up being that relevant or interesting, they could become disenchanted with the whole idea. Or users could over-engage with results that are intended only to educate and inform—not diagnose. As a physician, Topol worries that incidental findings from direct-to-consumer tests could trigger patients to ask for unnecessary tests from their doctors, increasing health care costs and straining resources. Researchers call this phenomenon “raiding the medical commons."

Helix tries to avoid these consequences by carefully evaluating the genetic interpretations and recommendations made by each product, based on the most up-to-date scientific literature. And product developers do their part by setting clear expectations up front. Take Sema4, a company spun out of New York’s Mount Sinai Health System by geneticist and big data evangelist Eric Schadt. It sells tests that tell expectant mothers if they carry a gene that might pass on an inherited disease to their children. Its flagship product uses DNA sequencing to screen for disease-causing mutations for 281 different genetic conditions, and is ordered only at the recommendation of your physician. But Monday, Sema4 announced a new, less expensive test on Helix’s marketplace that identifies genetic indications for only 67 diseases, which you can order yourself from the comfort of your home—with a small caveat. After you select the test, Sema4 requires that you submit some additional health information to a doctor online, who then reviews it before giving the final okay. That's a precaution the company takes to stay on the right side of current regulations.

Technically, the FDA has the authority to regulate genetic test kits, though the exact scope of the agency's jurisdiction is still a matter of legal dispute. As it stands now, the degree of FDA oversight of a test depends on its intended use and the risk posed by an inaccurate result. To date, the agency has mostly turned a blind eye to direct-to-consumer products (with the notable exception of 23andMe). So as long as companies don’t overpromise on the clinical validity of results, they can pretty much escape regulatory scrutiny.

Which is why Schadt says the product isn’t for people actively trying to get pregnant “We view it as an educational guide in the long term family planning journey, much further upstream than a clinical care scenario,” says Schadt. The idea is that if women see anything of concern show up in their simple screen, they’ll come back to Sema4 for the clinically comprehensive test when it comes to actually making a baby. But they shouldn’t use the product on the Helix marketplace to make any serious family planning decisions.

From a business perspective, the appeal of Helix’s platform is obvious. But owning DNA also presents some thorny ethical issues. Bioethicists have pointed out that when companies have a financial incentive to keep genetic data private, information that could otherwise be used for the common good stays behind closed doors. Helix’s parent company, Illumina, has a pretty good reason to keep those exomes for itself. In January, it spun out another company, called Grail, to leverage big DNA data to commercialize a technology called liquid cancer biopsy. It detects cancer in its very earliest stages by finding tiny amounts of tumor DNA in a drop of blood. A massive genetic database would give Grail a boost on validating that technology. While Helix wouldn’t comment on how the company plans to use its genetic information internally, it did say it doesn’t have any plans to share data with any third parties, to support external research efforts or otherwise.

These are the kinds of concerns Sema4’s Schadt had previously tried to confront, by opening up his company’s own genetic library to academic and nonprofit medical researchers for free. And while that vision is at odds with Helix’s own vice-grip policies, he still found something in the partnership that he couldn’t get on his own: volume. While Sema4 doesn’t receive any raw sequencing data from its Helix-based customers—just a report on the 67 diseases in the screen—it’s still worth it to get more long-term users. “It’s not perfect,” says Schadt, who spent many months working with Helix to come to a data-sharing agreement. “But it’s not bad either. I would love to have every single variant that Helix is generating, but this still gives us a far larger pool to go after to for studying diseases.”

Last year, Schadt published a paper in Nature Biotechnology describing something he calls the Resilience Project. The idea is to find people with mutations that should result in terrible disorders, but for some reason don’t. Something in their DNA protects them, and could offer clues to potential treatments. For that paper, Schadt analyzed the genomes of nearly 600,000 people—an incredibly time and cost-intensive project. He’s betting that Sema4, and Helix, can help speed up the treasure hunt. Some of the genes that harbor these disease-causing mutations are on the smaller Sema4 screening test, so Schadt is still hoping he can use that data to recruit individuals for further study. “Helix provides us this really broad net,” he says. “It’s a cool way to identify promising people.”

Other health researchers are also interested in that broad net. Though not on the list of marketplace products announced Monday, two big hospital networks with hundreds of thousands of patients—Geisinger Health and the Mayo Clinic—have plans to launch products there later this year. Being able to tie even limited genetic data with information from those patients’ electronic health records is the kind of thing that gets even skeptics like Topol excited. But even so, he thinks it will be at least five years before the science really catches up to the product platform’s promises. If Helix can ride the wave that long, you might actually be able to stake some everyday decisions on your DNA.