From the start of the Precision Medicine Initiative, an ambitious research effort designed to take into account individual differences in people’s genes, environments and lifestyles, the success of PMI has been predicated on the collection of data from volunteers on a massive scale across the United States.

Launched in 2015 by President Obama, PMI’s goal is to generate medical breakthroughs by personalizing how the U.S. healthcare system treats disease and improves health. Building one of the world’s largest and most diverse biomedical datasets is foundational to the initiative, which will heavily leverage genomics and health information technology. The National Institutes of Health’s All of Us research program, the cornerstone of PMI, seeks to recruit a million or more Americans to contribute their health data over many years to a national cohort. This landmark longitudinal study is where the rubber meets the road for precision medicine research.

The program has just begun enrolling participants on an invitation-only basis; as of mid-September, about 2,500 people have agreed to participate during its beta phase. Testing of IT systems with these first enrollees will begin in early fall.

The nascent program is one of the leading initiatives in the country looking to assimilate data from a wide variety of sources to improve patient care. Analysis of the PMI offers an in-depth look at how these efforts will be structured and then hope to achieve tangible results.

Treasure trove of data

Participants in the study will be encouraged to contribute their physical, genomic and electronic health record data. In addition to providing blood and urine samples as well as access to EHRs, information will be collected from volunteers in the program through mobile technology, physical measurements and surveys.

According to Chris Lunt, chief technology officer for the All of Us research program, the objective is to collect as much data as possible that gives any indication about peoples’ health that could lead to more tailored disease treatments and prevention strategies.

“If we can get their electronic health records, that’s the best place to start and then layering on information that we’re able to glean from taking biosamples,” says Lunt. “There’s also data that doesn’t exist already but that we’re going to have to specifically curate, both patient-volunteered information through surveys and the collection of data about heart rate through fitness monitors—and anything else that people are willing to volunteer.”

The passive collection of information through wearable technology is something the All of Us program is looking to utilize as much as possible. “It’s the kind of data that has been missing from a lot of research in the past,” observes Lunt. “If someone comes in every six months and you take their pulse, that doesn’t tell you a lot. You really need to see their pulse and specific heart rhythm over the course of a day after they’ve eaten or exercised.”

In addition, Lunt is working with partners nationwide to develop technologies that securely gather and integrate data for broad research use, as well as analytic approaches and visualization methods enabling researchers to understand and exploit the diverse datasets.

“What we’re really looking to do is to get such a rich dataset that we’re going to find patterns in the data that we’ve never seen before,” he adds.

Using the data, researchers are hoping to measure risk for a range of diseases based on environmental exposures and genetic factors, as well as interactions between the two. They also are interested in using mobile health technologies to correlate activity, physiological measures and environmental exposures with health outcomes.

“One of the biosamples we’re collecting is urine, and that provides us with the capacity to run heavy metal screening for environmental exposure, which is a function of location,” Lunt says. “We’re talking about not just the location of people in the country but locations within a community, such as individuals living close to the freeway and refineries.”

Partnering with academia, industry

The daunting task of acquiring, organizing and securing what will be one of the world’s largest and most diverse datasets for precision medicine research falls squarely on the shoulders of Vanderbilt University Medical Center in Nashville, Tenn., which was awarded a five-year, $71.6 million grant from NIH to establish and operate a Data and Research Support Center for the All of Us program.

“They need to collect all of the data, curate it, normalize it, clean it up, de-identify it and put it into the curated data repository that ultimately the researchers will have access to—all of that falls under the purview of Vanderbilt,” says Lunt.

The role of the center will be to provide research support and analysis tools to the scientists who will mine the enormous database of health data working to better understand the factors that influence health and disease. In addition, VUMC’s Data and Research Support Center will be working with the Broad Institute in Cambridge, Mass., and Verily Life Sciences (formerly Google Life Sciences) of Mountain View, Calif.

“In the beginning, we’ll be getting EHR data, which is voluminous but not that bad compared to when we get the genomics data in—and, then, there’s a huge jump up in terms of the amount of data,” notes Lunt. “This is why we sought out partners who had proven experience in managing data at that scale. That’s the advantage of working, for example, with the Broad Institute and Verily.”

At the same time, a biobank at the Mayo Clinic in Rochester, Minn., will oversee the collection, storage and analyses of blood and urine samples. Under the $142 million award, Mayo’s Minnesota biobank is anticipated to contain more than 35 million biospecimens and associated data, while a separate Florida facility will serve as a backup site for about eight million to 10 million samples.

“Those go into the deep freeze, and then we can pull those samples out based on researcher requests,” adds Lunt.

For its part, The Scripps Research Institute in La Jolla, Calif., is playing a pivotal role in the All of Us research program. Under a five-year, $207 million NIH award, TSRI is charged with establishing a participant center to develop, test, maintain and upgrade the mobile apps and web-based platform that will be used to enroll, communicate with and collect data from—and share data with—all one million volunteers.

“We’re responsible for everything that the participants see, including the website, the app, the data flow from the participants and data sharing back to the participants, as well as data security and privacy,” says Eric Topol, MD, professor of genomics and the Gary and Mary West Endowed Chair of Innovative Medicine at TSRI.

Volunteers will enroll, consent and donate their data through vendor Vibrent Health’s technology platform using mobile apps, web interfaces, interactive voice response, feature phones and wearable sensors. At the same time, TSRI’S Participant Center will need to develop parallel platforms to deliver these same functions to those who don’t have smartphones. TSRI is also overseeing the direct enrollment of 350,000 volunteers, more than a third of the goal of one million participants.

Representing diversity

However, Lunt acknowledges that getting one million or more Americans to share their health information is no small feat. In particular, NIH is looking to recruit volunteers for the cohort from underserved populations—including lower-income, Hispanic and Latino, African American, American Indian and rural communities.

“We want this program to reflect the rich diversity of our country,” said Eric Dishman, director of the All of Us research program. “Expanding our national network of healthcare provider organizations enhances our ability to reach communities traditionally underrepresented in medical research.”

The All of Us program, which is currently in the beta phase, is leveraging a national network of healthcare provider organizations—including regional medical centers, community health centers and Department of Veterans Affairs’ medical centers—to get the consent of participants and to gather health information from sources such as EHRs.

“Provider organizations such as large hospital systems are helping us to onboard participants,” says Lunt. “They are bringing in people who are already patients in their health system, so they have access to the electronic health records. They get consent from the participants, and then they deliver the data directly to us.”

Ultimately, for those direct volunteers who want to participate in the program, a project directed by the Office of the National Coordinator for Health IT is working on leveraging HL7’s emerging Fast Healthcare Interoperability Resources (FHIR) standard and OAuth 2.0 security profiles to enable individuals to access their health data and share it with researchers. The aim of Sync for Science is to put people at the center of deciding when and how data should flow.

Critical to this effort is the participation of major EHR vendors who are piloting the use of open, standardized applications to give individuals the ability to easily and securely contribute their data to research studies. By connecting a research app to their electronic health data, Sync for Science will help ensure patients’ rights to access their own information under HIPAA requirements.

“We’re working with the Sync for Science project, which is part of ONC, to put together a reference architecture and guidelines for how hospital systems could provide consumers access to their own data to be able to pass that to research organizations,” says Lunt.

Among the core values guiding the development and implementation of the All of Us program are that participants have access to their information, that the data be accessed broadly for research purposes, and that security and privacy will be of highest importance.

“The care that we must take in making sure that we really strongly de-identify the data is something that we take seriously,” adds Lunt.

Toward that end, program leaders say they are engaging teams of experts to conduct rigorous security testing and establishing safeguards against unintended release of data while setting penalties for the unauthorized re-identification of participants. At the same time, education materials are being developed for volunteers regarding potential privacy risks and the program’s response plans in the case of a privacy breach.

Beta testing phase

In June, NIH announced that it had begun enrolling the All of Us program’s first participants as beta testers and that the agency was “starting small with enrollment and scaling up carefully” from one site to more than 100 sites nationally during the beta phase.

Currently, enrollment in the program is by invitation only. As of mid-September, about 2,500 people have consented to be participants in the program during the closed beta phase.

“Our partners will begin testing on a staggered schedule through early fall, each enrolling a handful of participants a day to start, and inviting more when ready—eventually totaling at least 10,000 people across the country,” according to NIH. “Before we open enrollment nationally, we want to make certain that all systems are successfully up and running, and our processes are well in place to ensure a good experience for participants.”

Lunt notes that one of the biggest challenges for the All of Us program’s beta testing phase is creating an “equitable consent system that’s clear and understandable and participants can feel good about.” In addition, he reveals that surveys used during the beta period to gather information are all electronic—an approach that is being evaluated.

“One of the things we’re discussing is the question of whether we need to provide a paper capacity for people who are less digitally engaged,” Lunt adds.

Overall, he is optimistic that the enrollment for All of Us will open nationwide early next year. “We really want to make sure that we launch when we’re ready and that it’s right for the broadest possible audience,” Lunt concludes.

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