The National Institute of Health’s All of Us genomic program should take a phased approach to genomic analysis, building the program in a systemic way before it attempts to reach 1 million participants, according to a recent report from the program’s Genomic Working Group.

The Genomics Working Group was set up by All of Us in June 2017 to assess different options for genomic analysis of participant samples. The group took into account the program scale, costs and the potential research value.

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Report authors determined whole-genome sequencing would provide the most potential value for research -- although the process would cost more and cause some scalability challenges. As a result, the program should begin genotyping and whole-genome sequencing on only a few participants to start.

The program should start with just 5 percent of the planned 1 million participants -- or about 50,000 individuals. The report found this sample size would be sufficient to begin examining the platform’s potential to integrate genomic data with environmental, lifestyle and medical data.

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“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 report authors wrote. “This approach would also allow the program to test participants’ needs and perspectives for return of individual genomic information.”

Over time, program participants would provide different types of health information -- including blood and urine samples -- to be stored in the program’s biobank for future testing and analysis.

All of Us researchers and awardees are currently working on the best way to improve the program’s development and plan to release a comprehensive genomics plan for the national launch of the program in the spring of this year.

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“Genomic analysis is a fundamental part of our program, and we want to get it right,” All of Us Research Program Director Eric Dishman, said in a statement. “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.”

Twitter: @JessieFDavis
Email the writer: jessica.davis@himssmedia.com