Apple Expands into Genomic Research with DNA Sequencing Apps on ResearchKit Platform

Author: Antonio Regalado

Translation: Chen Yi, Mainland China
Proofreader: Yu Lijun

iPhone Could Become a New Tool for Genetic Research. Among all the rumors surrounding Apple, the world’s most valuable company, this one may be garnering the most widespread attention.

Apple is collaborating with U.S. researchers to launch apps that provide iPhone users with access to DNA testing. According to individuals familiar with the plan, many of these users are accessing such services for the first time.

These apps are built on the ResearchKit software platform (hereinafter referred to as the RK Platform), which Apple launched in March to help hospitals and scientists conduct scientific research using iPhones by collecting data from device sensors, questionnaires, and other sources.

The initial five RK platform software applications, including one called mPower for tracking symptoms in Parkinson’s disease patients, rapidly recruited thousands of volunteers within days, demonstrating the appeal of the Apple platform.

“Apple launched the RK platform, which received an extraordinary response. The obvious next step is to collect DNA samples,” said Gholson Lyon, a geneticist currently working at Cold Spring Harbor Laboratory who was not involved in this study.

Requiring iPhone users to submit DNA samples to researchers would thrust Apple devices into a broader battle over genetic information. Universities, major tech companies, direct-to-consumer laboratories, and even the U.S. government are all striving to amass massive databases of genetic information to help unravel the causes of various diseases.

In the first two studies of the plan, Apple does not directly collect or test DNA. This is done by academic partners. Data will be stored in the computing cloud, but some findings can also be displayed directly on users' iPhones. Ultimately, consumers may share their "My Genes" with a single click, as easily as they currently share their location.

An Apple spokeswoman declined to comment. However, according to a person familiar with the plan, the company’s ultimate goal is “to enable consumers to share DNA information with various parties,” including scientific research institutions. Due to Apple’s privacy policies, this insider spoke on condition of anonymity, as did other individuals knowledgeable about the initiative.

An insider claimed that research on the DNA app could still be canceled, but another source stated that Apple wants to unveil the app at the Worldwide Developers Conference in San Francisco in June.

1. Intricate and Complex Data
Since last year, Apple has been making its devices inseparable from “digital health.” The latest iOS operating system includes an app called “Health,” which features more than 70 health-related metrics. These metrics are comprehensive, ranging from your body weight to the amount of manganese (in milligrams) you consume. Currently, however, genetic information is not included. Moreover, Apple and IBM are collaborating to develop health software for nursing homes and hospitals.

Apple is currently closely collecting DNA data to conduct preliminary research. A study initiated by the University of California, San Francisco, will combine genetic testing with information collected from expectant mothers via a mobile app client to investigate the causes of preterm birth. Another study, led by Mount Sinai Hospital in New York, is also underway.

Atul Butte, head of the research group at the University of California, San Francisco, and Dean of the School of Computational Health Sciences, stated that he was not yet in a position to comment on Apple’s involvement. “The initial five studies on the ResearchKit platform were excellent, demonstrating the speed at which Apple is moving. Many others and I are watching closely as Apple undertakes more complex initiatives,” said Butte. Noting that the genetic causes of preterm birth are not yet well understood, he added, “I look forward to the day when we can access data more complex than activity metrics, such as DNA or medical records.”

To participate in these studies, an individual must first consent to undergo genetic testing, such as by submitting a “saliva collection kit” to a laboratory approved by Apple. The initial laboratories for this purpose were reportedly top-tier gene sequencing centers operated by the University of California and Mount Sinai Hospital.

Planned DNA studies will collect fewer than 100 key medical disease genes (i.e., “gene panels”), rather than an individual’s entire genome. If conducted on a large scale, these tests would cost no more than a few hundred dollars per person.

Among the apps already released on the RK platform, the research process is approved by Apple Inc. and an Institutional Review Board (IRB). As an oversight body, the IRB provides recommendations to researchers for studies involving human volunteers.

The RK platform is led by Stephen Friend, a former pharmaceutical executive who currently heads Sage Bionetworks, a non-profit organization advocating for open scientific research. Friend’s vision of “democratizing data” has received enthusiastic support from Apple Inc. since 2013. Described by Apple as a medical technology consultant, Friend declined interview requests through his assistant.

Silicon Valley companies tend to over-operate the “complex medical-industrial complex,” as Friend calls it, using apps and mobile devices. The problem is that many hospitals and research institutions have a notorious reputation for data access, largely because such access is prohibited in many cases by state laws and federal privacy regulations. However, no law prohibits individuals from sharing information about themselves. Therefore, one rationale for “empowered patients” is that if people collect or control their own data, it can rapidly enable broad applications in consumer software, technology, and science.

One study that could be accelerated through an iPhone app is the “Resilience Project,” a collaboration between Sage Bionetworks and Mount Sinai Hospital aimed at uncovering why some individuals remain healthy despite having genetic profiles indicating they should suffer from severe inherited disorders, such as cystic fibrosis. The project has already analyzed DNA data from more than 500,000 previously collected samples and identified approximately 20 anomalous cases last year. However, the “Resilience Project” has faced difficulties in contacting these DNA donors because their samples were collected anonymously. In contrast, recruiting volunteers via an iPhone application could facilitate easier communication with them.

2. Coping with Difficulties
To play such a role in genetic research, Apple has partnered with several companies to inspire people on how to utilize their genetic information. These partners include Ancestry.com, the Open Humans Project, and 23andMe, a direct-to-consumer testing company that has collected DNA profiles from over 900,000 individuals who purchased its $99 saliva collection kits.

This is one of the largest DNA data banks, a status achieved through nine years of sustained media attention for 23andMe, including appearances on The Oprah Winfrey Show. By contrast, Apple sold 60 million iPhones in the first quarter of this year alone, bringing its cumulative sales to 750 million units. This implies that DNA research conducted on the ResearchKit platform will, in theory, proceed more rapidly and extensively.

However, DNA data processing remains somewhat tricky, and in many cases, the information that individuals are permitted to access is restricted by the U.S. Food and Drug Administration.

A study implemented by the University of Michigan this year leverages the Facebook app to recruit participants for in-depth research on popular health topics and habits. In this study, each participant is provided with a saliva collection kit, after which they can download their personal DNA data file.

To date, 4,200 individuals have enrolled in the study. Gonçalo Abecasis, the project lead, noted that while the initiative will provide participants with information about their genetics, it will not make any health predictions. “This will clarify what benefits our research and what benefits people’s health,” he said. “You can imagine that many people can interpret DNA data, but it remains unclear which information is appropriate to disclose.”

One question Apple must confront is whether consumers are truly that interested in their own DNA. Currently, many people still do not effectively utilize genetic data, and there is a lack of universal systems to interpret such information. “The next decade will be critical,” says Leon, a geneticist at Cold Spring Harbor Laboratory. However, the key issue remains whether there will be a killer app that enables users to interact with their DNA information more quickly and easily.

Some people are quite imaginative. Picture this: you’re at a pharmacy filling a prescription, and after providing your genetic information, you receive an alert predicting that you may be allergic to a certain medication. Or imagine an app that can accurately calculate how closely you are related to others. However, Lyon believes these scenarios currently serve primarily to assist researchers. “They need people to contribute their DNA,” he said. “One incentive is that individuals can access this information while using their mobile phones.”

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Chen Ziyi
Bachelor’s degree in Finance from Tsinghua University; currently employed at a financial institution. Highly interested in the development of big data.

Lu Xinghai—
English Name: Yak, WeChat: yak1982. Obtained a master's degree from Northwestern Polytechnical University in 2007, specializing in information technology research. With many years of experience in software product design and development, currently serves as Product Director at an internet company, dedicated to the planning, design, and promotion of IT system monitoring software and Application Performance Management (APM) platforms for big data. Passionate about the internet, focused on product design, enthusiastic about cloud computing, attentive to big data, and curious about all things new.

Yu Lijun—
I earned my bachelor’s and master’s degrees from the Department of Mathematics at Tsinghua University, where my master’s thesis focused on modeling image inpainting problems. Currently, I am a Ph.D. candidate in Applied Mathematics at Case Western Reserve University in the United States, specializing in Bayesian methods for inverse problem modeling. My doctoral research focuses on localizing brain activity using magnetoencephalography (MEG) time-series signals. I have broad interests in mathematical modeling, machine learning, artificial intelligence, and image processing. Through the Yuan Dian column, I hope to connect with more professionals in related fields and like-minded individuals interested in entrepreneurship, fostering mutual exchange and progress.
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