Apple Has Plans for Your DNA

 

The iPhone could become a new tool in genetic studies. Why It Matters Gene research is held back by medical privacy rules and limited data sharing. Of all the rumors ever to swirl around the world’s most valuable company, this may be the first that could involve spitting in a plastic cup. Apple is collaborating with U.S. researchers to help launch apps that would offer some iPhone owners the chance to get their DNA tested, many of them for the first time, according to people familiar with the plans. The apps are based on ResearchKit, a software platform Apple introduced in March that helps hospitals or scientists run medical studies on iPhones by collecting data from the devices’ sensors or through surveys. The first five ResearchKit apps, including one called mPower that tracks symptoms of Parkinson’s disease, quickly recruited thousands of participants in a few days, demonstrating the reach of Apple’s platform. “Apple launched ResearchKit and got a fantastic response. The obvious next thing is to collect DNA,” says Gholson Lyon, a geneticist at Cold Spring Harbor Laboratory, who isn’t involved with the studies. Nudging iPhone owners to submit DNA samples to researchers would thrust Apple’s devices into the center of a widening battle for genetic information. Universities, large technology companies like Google (see “Google Wants to Store Your Genome”), direct-to-consumer labs, and even the U.S. government (see “U.S. to Develop DNA Study of One Million People”) are all trying to amass mega-databases of gene information to uncover clues about the causes of disease (see “Internet of DNA”). In two initial studies planned, Apple isn’t going to directly collect or test DNA itself. That will be done by academic partners. The data would be maintained by scientists in a computing cloud, but certain findings could appear directly on consumers’ iPhones as well. Eventually, it’s even possible consumers might swipe to share “my genes” as easily as they do their location. An Apple spokeswoman declined to comment. But one person with knowledge of the plans said the company’s eventual aim is to “enable the individual to show and share” DNA information with different recipients, including organizers of scientific studies. This person, like others with knowledge of the research, spoke on condition of anonymity because of the company’s insistence on secrecy. One of these people said the DNA-app studies could still be cancelled, but another said Apple wants the apps ready for the company’s worldwide developers’ conference, to be held in June in San Francisco. Sophisticated data Starting last year, Apple began taking steps to make its devices indispensable for “digital health.” Its latest version of the iOS operating system includes an app called Health, which has fields for more than 70 types of health data—everything from your weight to how many milligrams of manganese you eat (as yet, there’s no field for your genome). Apple also entered a partnership with IBM to develop health apps for nurses and hospitals, as well as to mine medical data. Now Apple is closely involved in shaping initial studies that will collect DNA. One, planned by the University of California, San Francisco, would study causes of premature birth by combining gene tests with other data collected on the phones of expectant mothers. A different study would be led by Mount Sinai Hospital in New York. Atul Butte, leader of the UCSF study and head of the Institute for Computational Health Sciences, said he could not comment on Apple’s involvement. “The first five [ResearchKit] studies have been great and are showing how fast Apple can recruit. I and many others are looking at types of trials that are more sophisticated,” Butte says. Noting that the genetic causes of premature birth aren’t well understood, he says, “I look forward to the day when we can get more sophisticated data than activity, like DNA or clinical data.” To join one of the studies, a person would agree to have a gene test carried out—for instance, by returning a “spit kit” to a laboratory approved by Apple. The first such labs are said to be the advanced gene-sequencing centers operated by UCSF and Mount Sinai. The planned DNA studies would look at 100 or fewer medically important disease genes (known as a “gene panel”), not a person’s entire genome. These targeted tests, if done at large scale, would not cost more than a few hundred dollars each. Like the ResearchKit apps released so far, the studies would be approved by Apple and by an institutional review board, a type of oversight body that advises researchers on studies involving volunteers. The ResearchKit program has been spearheaded by Stephen Friend, a onetime pharmaceutical company executive and now the head of Sage Bionetworks, a nonprofit that advocates for open scientific research. Friend’s vision for a data “commons” in which study subjects are active participants in scientific research was enthusiastically embraced by Apple starting in 2013. Friend, whom Apple describes as a medical technology advisor, declined an interview request through an assistant. Silicon Valley companies are intent on using apps and mobile devices to overrun what Friend has called the “medical-industrial complex.” The problem is that hospitals and research groups are notorious for hoarding data, in many cases because they are legally bound to do so by state and federal privacy regulations. But no law stops individuals from sharing information about themselves. Thus one reason to “empower patients,” as rhetoric has it, is that if people collect their own data, or are given control of it, it could quickly find wide use in consumer apps and technologies, as well as in science. One study that could get a boost from the iPhone is the Resilience Project, a joint undertaking by Sage and Mount Sinai to discover why some people are healthy even though their genes say they should have serious inherited diseases like cystic fibrosis. That project has already scoured DNA data previously collected from more than 500,000 people, and as of last year it had identified about 20 such unusual cases. But the Resilience Project was having difficulty contacting those people because their DNA had been collected anonymously. By contrast, recruiting people through iPhone apps could make ongoing contact easy. Hard to handle By playing this role in gene studies, Apple would join a short list of companies trying to excite people about what they might do with their own genetic information. Among them are the genealogy company Ancestry.com, the Open Humans Project, and 23andMe, a direct-to-consumer testing company that has collected DNA profiles of more than 900,000 people who bought its $99 spit kits. That is one of the largest DNA data banks anywhere, but it took 23andMe nine years of constant media attention, such as appearance on Oprah, to reach those numbers. By comparison, Apple sold 60 million iPhones in just the first three months of this year, contributing to a total of about 750 million overall. That means DNA studies on the ResearchKit platform could, theoretically, have rapid and immense reach. But DNA data remains tricky to handle, and in some cases what people can be told about it is regulated by the U.S. Food & Drug Administration. One study launched this year by the University of Michigan, Genes for Good, uses a Facebook app to recruit subjects and carry out detailed surveys about their health and habits. In that study, participants will be sent a spit kit and will later gain access to DNA information via a file they can download to their desktops. So far about 4,200 people have signed up, says Gonçalo Abecasis, the geneticist running the research. Abecasis says that the project will tell people something about their ancestry but won’t try to make health predictions. “There is tension in figuring out what is okay as part of our research study and what would be okay in terms of health care,” he says. “You can imagine that a lot of people have a good idea how to interpret the DNA … but what is appropriate to disclose isn’t clear.” One issue facing Apple is whether consumers are even interested in their DNA. So far, most people still have no real use for genetic data, and common systems for interpreting it are lacking as well. “In 10 years it could be incredibly significant,” says Lyon, the Cold Spring Harbor geneticist. “But the question is, do they have a killer app to interact with their [DNA] quickly and easily.” Some people have ideas. Imagine you could swipe your genes at a drugstore while filling a prescription, getting a warning if you’re predicted to have a reaction to the drug. Or perhaps an app could calculate exactly how closely related you are to anyone else. But Lyon believes that right now the story is mostly about helping researchers. “They need people to donate their DNA,” he says. “One incentive is to have it on their phone where they can play with it.”