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Precision Medicine Initiative Gathering Community Feedback for 1M-Subject Recruitment

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BOSTON (GenomeWeb) – A beta-testing community of 5,000 individuals is providing feedback on the best way to enroll participants into the Precision Medicine Initiative and keep them engaged for many years.

"We've been gathering input form a whole bunch of sessions with … individuals from very diverse communities to help inform what we're doing," said Eric Dishman, the former Intel VP who was tapped in July by the National Institutes of Health to lead the enrollment of 1 million participants into the PMI. Speaking at the Annual Personalized Medicine Conference here yesterday, Dishman said that the NIH had conducted qualitative interviews, home visits, and surveys to get the beta-testing community's input on a variety of issues that need to be addressed before the program can begin enrollment.

Launched in 2015 by President Barack Obama, PMI aims to collect medical, environmental, lifestyle, and genetic data on a million participants longitudinally, and apply that information to research that enables more precise healthcare. From the start, leaders at the helm of the project have emphasized that participants will reflect "the broad diversity of the US" and will be treated as partners involved in all phases of planning, including data collection, research, and return of information.

Recruitment was supposed to begin this fall, but Dishman noted that a lot of details still need to be figured out and projected the first quarter of 2017 as a more realistic time frame.

The input provided by the beta-testing community, meanwhile, is helping move things along. For start, the program to enroll the million participants, originally dubbed the PMI Cohort Program, is now called the All of Us Research Program. "If we're going to reach out to those who have been underrepresented in research … we have to speak in a language and in ways that's understood by them," said Dishman, noting that the name change was based on feedback that showed that people weren't connecting with the word "cohort."

The All of Us Research Program, for which the NIH allotted $55 million in fiscal year 2016, has so far built an expert network of 50 organizations and a dozen working groups; begun developing ways to enable enrollment through a website, a 1-800 number, smartphones, and a data center; and tested security safeguards and IT interfaces for transferring samples and data.

"We're a huge security target," Dishman said. "So, we're doing an enormous amount of security testing of all the individual pieces." The PMI will also host a hacking event, where groups will be invited to try to hack the system, he added.

The research program has also completed and sent the first version of its enrollment protocol for approval by an institutional review board. "Initially, we're not going to be doing wearables right out of the gate," Dishman said, but noted that subsequent iterations of the platform will be able to launch new data capture capabilities, return different kinds of information back to participants, and open novel research efforts.

"If I can get people as excited about the next release of the All of Us research platform as they get about the next version of iOS, that would be terrific," he quipped.

After enrolling 1 million participants, a goal that the NIH has projected will likely take around four years, the challenge will be to keep them engaged for many years. "We want this to be like Framingham," said Dishman, referring to the cardiovascular disease study that began in 1948 and is still going with third-generation participants. "We want this to go for 50 [or] 75 years. Imagine the new technologies, the new wearables that will become available over that period time as we're trying to understand the unfolding of health in a million on more diverse people over many, many decades."

In terms of diversity, the research program is expecting that 50 percent of participants will be white, while the other half will represent various minority groups, including 24 percent from the Latino or Hispanic communities. Initially, program materials will be available in English and Spanish, and eventually Mandarin and other languages. The PMI will implement ways to draw participants of all ages, from rural and urban communities, across socio-economic groups, those who cannot consent for themselves, and the incarcerated.

Based on the feedback it has received, the All of Us Research Program has outlined eight types of "personas" it will have to engage and encourage to contribute data and complete surveys. For example, the program is expecting enrollees who are older and altruistic with their time, determined participants who are newly diagnosed with a chronic disease, young health-oriented people who are easily distracted, those who don't trust doctors, those who don't trust the government, and people who are too busy or are scared they may lose insurance coverage by participating in PMI.

"We find people in these categories throughout the entire country," Dishman said, noting that healthcare provider organizations recruiting participants around the country will be able to adapt PMI market materials to fit their local communities. "We know it's not one size fits all for messaging."

As long as researchers are willing to share the data and respect participants' privacy they will be able to access data gathered within PMI, according to Dishman. Some data will be totally open access, but PMI will grant credentialed access for some information based on the risk of reidentification.

With genomic data there is always a risk of reidentification, although within PMI it's not yet clear what type of genetic testing participants will receive. Dishman noted that PMI is just kicking off the working group that will formulate a plan for genomic testing, return of results, and counseling.

Within PMI there may be pilots as early as next year where groups of participants get genome sequencing, but most enrollees are likely to get genotyping first. The cost of sequencing may be dropping, but Dishman acknowledged that it is still challenging to scale to the entire PMI cohort. "If someone came to me and says, 'Hey, we have this $75 instrument we can put in everyone's homes,' [that's still] times a million," he said.