The Genomics Working Group of the All of Us Research Program’s Advisory Panel recently completed its final report, suggesting that the program consider a phased approach for genomic analyses, ramping up in a systematic way before attempting to analyze genomes at the scale of 1 million program participants.
“The design of a pilot study may be the best approach to inform the program’s ability to scale while simultaneously enriching its data platform for discovery,” the authors wrote. “This approach would also allow the program to test participants’ needs and perspectives for return of individual genomic information.”
Participants in the All of Us Research Program will provide different types of health information over time, including blood and urine samples. These samples will be stored in the program’s biobank and undergo testing and DNA analysis in the future.
All of Us established the Genomics Working Group in the summer of 2017 to consider different options for genomic analysis of the participant samples, taking into account the scale of the program, cost implications, and the potential value for research. In the report, the group highlighted the relative benefits of three options:
- genotyping—analysis of a limited set of DNA, including the most common genetic variants among people
- exome sequencing—analysis of all DNA segments that code for proteins
- whole-genome sequencing—analysis of a full DNA sequence
The group determined that whole-genome sequencing offered the most potential value for research, while also acknowledging its higher cost and other scalability challenges at this juncture. Ultimately, the group suggested that the program evaluate both genotyping and whole-genome sequencing in a limited number of participants to start.
All of Us staff and awardees are working now to further develop program plans, considering additional aspects such as return of genetic results to participants and genetic counseling needs. They expect to outline a comprehensive genomics plan before the program’s national launch in spring 2018.
“Genomic analysis is a fundamental part of our program, and we want to get it right,” said Eric Dishman, director of the All of Us Research Program. “It takes a lot of careful thought and planning not only to sequence 1 million genomes, but also to return information to participants in a meaningful way. We want to honor our commitment to our participant partners and make the best use of our resources to advance research. The Genomics Working Group has done a great service in helping us kick off this important work."
Read the report pdf | 301.48 KB.