Jan 24, 2019 | staff reporter genomeweb.com
Santa Clara, Calif. (GenomeWeb) – The National Institutes of Health’s All of Us Research Program this year will pilot returning genetic test results to participants.
The project, which began enrolling participants last year, aims to enroll 1 million Americans willing to donate biological samples and share a variety of data from electronic medical records, surveys, wearables, and genetic testing that researchers can use to learn more about diseases and develop treatments.
During a presentation at the Precision Medicine World Conference yesterday, Alyssa Cotler, director of communications and marketing for the project, said that approximately 170,000 individuals have started the process of enrolling, and more than 100,000 participants are fully enrolled, having filled out all the health surveys and donated the necessary biological samples.
Last September, the program awarded $28.6 million in funding to three genome centers, led by Baylor College of Medicine, the Broad Institute, and the University of Washington, that will be responsible for genotyping and whole-genome sequencing participant samples, as well as calling and annotating the variants. Any medically significant variants will be reconfirmed via clinically validated lab tests. The NIH is also planning to fund a genetic counseling resource, including a network of genetic counselors and a variety of educational tools, that will support the return of clinically actionable findings to participants.
This year, the NIH plans to start reporting back pharmacogenetic variants as well as disease-associated variants in 59 genes recommended by the American College of Medical Genetics and Genomics.
Specifically, the project will start with a pilot, returning PGx and ACMG-59 results to 20,000 participants this year. In another pilot, NIH will test out how best to return lab results to 5,000 participants,with the goal of returning results to all participants by year end.
“This will be an opportunity to learn for ourselves what the best way is to return information to participants.” Cotler said via video that was streamed at the conference. “We don’t want to give them information that they’re not ready to receive.”
Earlier this month, the program announced a partnership with Fitbit to allow All of Us participants to contribute digital health data from their Fitbit accounts and indicated it will provide Fitbit devices to a random sampling of participants later this year for another project.
“We’re also integrating some other apps to try to learn more about people’s lifestyle,” Cotler said, noting that the first two to become available will be a mood app and a cardio-respiratory app. A basic electronic health record visualization tool will also be available this year, as well as education materials, lectures, and a “precision medicine newsfeed” for participants, she added.
Several resources for researchers will also go live, starting with the first curated dataset and a data browser later this year. All the data provided to researchers will be encrypted and deidentified, researchers will not be able to download the data, and access will be based on data tiers. Researchers will have to agree to a code of conduct to access the data and violators will be punished, Cotler said.
One of the promises of the All of Us program is that participants are not study subjects but research partners. In that spirit, Cotler noted that participants will be able to suggest or weigh in on the research questions that will be explored from the collected data.
To learn how to engage participants in this way, Cotler said, the project leaders visited novel research programs around the country. As an example, she pointed to the Metastatic Breast Cancer project, where experts at the Broad Institute and Dana-Farber Cancer Institute are partnering with patients with whole-exome and associated clinical data in order to makethat information broadly available to the research community.
“We want the data [from All of Us] to be available to all types of researchers, from traditional academic scientists to citizen scientists, and make it easy to access, but with the right controls in place,” said Cotler.
The program eventually also wants to make it easier for people to join the study. Currently, several regional healthcare providers have formed networks to collect samples and enroll participants, but eventually, there will be pop-up clinics that take the program “out on the road,” she noted, and even have staff visit homes, so people don’t have to travel to a healthcare facility to enroll.