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US Healthcare Organizations Apply for Chance to Recruit 1M-Volunteer Precision Medicine Cohort


NEW YORK (GenomeWeb) – As US government agencies piece together components of the Precision Medicine Initiative, a number of large healthcare systems are vying for the chance to recruit the better portion of the 1 million volunteers that will fuel the national research effort.

Last year, President Barack Obama kicked off the PMI with $215 million in proposed funding. The shared health and clinical outcomes data of a million participants will power research within PMI that is intended to enable more precise and personalized healthcare.

The NIH, responsible for building the research cohort by 2019, will recruit volunteers by drawing on the existing resources of so-called healthcare provider organizations (HPOs), as well as through direct volunteers.

Today, the NIH announced that Vanderbilt University will work with life sciences research organization and former Google X division Verily to pilot approaches for engaging and retaining direct volunteers to PMI (see related story). By year end, the NIH is targeting enrollment of 50,000 direct volunteers, and in the coming months, PMI will also set up a coordinating center and establish a network of HPOs, NIH Director Francis Collins said during a White House briefing on the project yesterday.

The HPOs will likely be recruiting between 60 and 70 percent of the 1 million volunteers in the cohort. Several integrated systems from around the country responded last week to NIH's request for applications (RFA), hoping to receive part of the $28 million that NIH plans to commit for seven HPO awards in fiscal year 2016.

In order to participate as HPOs, healthcare systems will have to have capabilities to recruit and consent a diverse population, collect biospecimens from them, perform physical examinations, submit specific types of data from their electronic health records (EHRs) periodically over the course of the study, and engage their participation over time.

To corral all these resources and ensure that the enrolled volunteers reflect "the rich diversity of America," as Collins put it, healthcare organizations are forming regional alliances. For example, on the West Coast, the University of California Medical Centers in San Diego, San Francisco, Davis, and Irvine, along with Cedars-Sinai Medical Center and University of Southern California-affiliated institutions have come together to form a consortium.

These institutions "cover the largest population areas in California," Lucila Ohno-Machado, chair of the biomedical informatics department at UCSD, told GenomeWeb. "The reasons we did it this way was because it is easier to ensure representation of the diversity of Californians if we do it together."

These organizations are part of the Patient-Centered Scalable National Network for Effectiveness Research (pSCANNER), which integrates data from networks and health systems serving 24 million patients for comparative-effectiveness research. Within pSCANNER all the data are stored in a standard EHR format, which will make it less painful to pull and submit the information that PMI wants on consented participants every three months.

ATHENA Breast Health Network, which serves thousands of women receiving care at across the five University of California medical centers, and the San Diego Blood Bank, are also part of the consortium and will contribute their expertise in collecting blood, urine, and saliva specimens to PMI.

When it comes to submitting a biological sample and taking the physical exam, "we have different strategies to make things convenient for participants," Ohno-Machado said. "They can go to some of the healthcare centers in the network [or] the blood bank, or the network can send someone to collect a sample from the person's home or workplace at a scheduled time."

Meanwhile, on the East Coast, Partners HealthCare (including Brigham and Women's Hospital and Massachusetts General Hospital) and Boston Children's Hospital have applied to become an HPO that will enroll participants into PMI from regions in New England. Robert Green, associate director for research at Partners Personalized Medicine and one of the principal investigators applying for the RFA, highlighted that Partners and Boston Children's Hospital together serve a diverse population of 3 million in the greater Boston area and has provided outpatient care to 2.4 million patients over a five-year period.

It's actually very, very challenging to accomplish this within the budget that's being provided, but many groups are trying to make it work.

Partners has a biorepository involving more than 30,000 participants; it has the ability to collect patient-reported data on topics of interest within PMI, such as environmental exposures; and it has electronic consent procedures. Experts at Partners also helped develop i2b2, an informatics framework researchers can use to find patients who have consented to partake in research and use their EHR data in genomics studies while preserving their privacy.

Green is hopeful that these types of resources will make the Partners and Boston Children's Hospital team a strong contender in the RFA process. "It's not just that we have a large group of patients. It's not just that we've done successful biobanks in the past," Green told GenomeWeb. "The kinds of studies that require you to enroll people and follow them for years or even decades are things that we've been doing here for decades."

Intermountain Healthcare in Utah, which has also applied to be an HPO, similarly has an integrated EHR system that enables researchers to collect the types of information that will be sought from PMI participants and to follow them over time. Since 2013, the organization has been running a precision cancer genomics program in which all advanced cancer patients are offered profiling on a 100-gene panel.

Given all the recruitment responsibilities that HPOs will have to shoulder within PMI, Heidi Rehm, director of the Laboratory for Molecular Medicine at Partners Healthcare Personalized Medicine, had some budgetary reservations. The costs associated with collecting biospecimens in a CLIA-compliant manner, giving every participant a physical exam, and integrating the HPO data environment with PMIs, are not trivial, Rehm noted. "It's actually very, very challenging to accomplish this within the budget that's being provided, but many groups are trying to make it work," she said.

The NIH's RFA for HPOs states that direct costs should not exceed $2.7 million in the first-year planning phase and not exceed $6.7 million for each of the four years of implementation. The investigators awarded funds will have to set annual milestones. After the first year, PMI organizers will review if HPOs have met their milestones, and determine whether the HPO can progress to the implementation phase.

Ultimately, the costs and the scope of work for researchers involved will also depend partly on how willing people are to join the PMI. Ohno-Machado expects there will be significant interest from the population that the California network serves. Surveys by UCSD suggest that the majority of people, when asked, agree to share de-identified EHR data and biospecimens for health science research.

"The one thing people are very happy about is that we are asking," Ohno-Machado said. "It's important to ask and respect what people want and when they want it, because people change their minds, too." Certainly, participation in the PMI is voluntary and participants can decide to join or drop out any time.

People in the US seem particularly interested in how genomics can inform precision medicine. NCI-MATCH, for example, is a trial exploring whether cancer patients benefit from drugs prescribed based on the genomic aberrations driving their disease. Patients have been so eager to join the study that in the initial months since launching NCI-MATCH investigators tested nearly a third of the 3,000 patients they planned to screen for genomic markers.

I don't want anybody to go away thinking this is the Human Genome Project 2.0.

Despite growing enthusiasm from the patient community, it's not yet clear to what extent and how genomic information will be collected within PMI. Collins has previously noted that the PMI's leaders are interested in doing a variety of biomarker analyses within the project, including genome sequencing, as costs come down.

But a specific genomic test platform hasn't yet been picked, Collins said during the White House briefing yesterday. Collins has repeatedly cautioned against thinking of the PMI as a "genomics" study. "Remember, this is not just about DNA," he reiterated. "I don't want anybody to go away thinking this is the Human Genome Project 2.0."

Of the more than 40 industry players that have pledged commitments under PMI to advance precision medicine, many are focused on genomics. For example, Intermountain and Syapse said they would launch a patient portal software application this year and provide patients with direct access to their medical records, as well as to data on tumor genomics, treatments, and outcomes. Harvard Medical School said it would launch a pilot project with the University of Utah, Boston Children’s Hospital, Recursion Pharmaceuticals, and Pairnomix to apply genomic medicine, bioinformatics, and drug screening techniques to quickly identify a precision treatment strategy for patients with six genetic disorders within 12 months of diagnosis. Consumer-focused genetic testing firm Color Genomics pledged to double the number of underserved individuals who receive free breast and ovarian cancer testing.

As the million-volunteer cohort comes together, researchers are also expecting that genomic analyses will be an important part of the PMI. "What I'm most interested in is the sequencing and interpretation of genomic information and how that information will be returned to participants in the PMI," said Rehm. "This piece of the PMI is not yet defined, but we anticipate plans will be developed over the coming year."

Rehm is leading one of three groups involved in the Clinical Genome Resource, a broad effort to share, curate, and identify genetic variants important to human health. Because she spends a lot of her time thinking about the clinical significance of genetic information, Rehm knows that reporting this information back to people can get tricky and is an area of active debate.

For example, the American College of Medical Genetics and Genomics a few years ago recommended that labs performing exome or whole-genome sequencing on patients analyze and report variants on 56 genes associated with the risk of various medical conditions, even if the variants weren't related to the specific medical problems patients were getting sequenced for. But not all experts agreed with this recommendation, and eventually ACMG updated its recommendations to allow patients to opt out of learning about these "incidental" findings.

"There are some things we know about in genomics today, and there are things we don't know, and the PMI will help us fill in the gaps," Rehm said. "If you sequence someone's genome and you find something that you know today is already useful, we need to make sure participants can get access to that information. But how will it be returned is an open question. If over the course of the PMI's study, new knowledge is learned, how will we relay that to patients? These components have to be carefully thought out and supported."

At the PMI briefing yesterday, Collins noted that in the initial phases of enrolling participants, the PMI won't be performing genetic testing on biospecimens. Before that, the project will need a biobank for storing participants' samples and firm up draft data security policies, which the White House is seeking public comments on.

Genetic testing within the PMI will also be something for which the project leaders will seek participants' input.

"One of the things that's really unique about this cohort is that the participants are at the table and they are helping us make decisions about things like this," Collins said. "Ultimately, we'll figure out what kind of test is most useful for research, of most interest to participants … and pick the platform that gives us that data at the highest quality, at the most affordable cost."