Precision Medicine News

“All of Us” Precision Medicine Program Returns First Genetic Results

The program has started to return genetic results to participants who donated biosamples, further advancing precision medicine research.

All of us precision medicine program returns first genetic results

Source: Getty Images

By Jessica Kent

- NIH’s All of Us precision medicine research program is beginning to return genetic results to participants, with individuals now able to receive information about their genetic ancestry and traits.

As part of the program’s goal to build a massive research resource with data and samples from one million or more participants, subjects shared information through surveys, EHRs, and biosamples (blood, urine, and/or saliva). All of Us researchers strip the data of personal identifiers and make it available through the All of Us Research Hub.

The program principally aims to ensure that participants have access to their own information, and many participants have expressed interest in understanding what their genetic data can tell them.

“We’re changing the paradigm for research,” said Josh Denny, MD, All of Us’s chief executive officer. “Participants are our most important partners in this effort, and we know many of them are eager to get their genetic results and learn about the science they’re making possible. We’re working to provide that valuable information in a responsible way.”

The program’s genetic analysis methods include whole genome sequencing and genotyping. Whole genome sequencing focuses on the more than three billion base pairs in the human genome, while genotyping examines millions of genetic variants focused on people’s most common genetic differences.

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The program has developed a comprehensive informed consent process to return genetic information, offering participants information and choice about whether or not to receive results and which results they want to get back. All of Us also provides access to genetic counselors to help answer questions from participants and their healthcare providers.

To support this work, All of Us collaborated with a team of awardees across the country, including the health technology company Color, to return the personalized results on genetic ancestry and traits.

The program also partnered with a set of leading genome centers to generate the genetic data: Baylor College of Medicine, the Broad Institute, and the Northwest Genomics Center at the University of Washington, alongside their partners.

“With the All of Us Research Program, we’re beginning to return results for a genomics program that is of unprecedented scale,” said Alicia Zhou, PhD, chief science officer at Color.

“For a long time, the research community has recruited participants into large-population genomics studies without returning any results back to them. With All of Us, we’ve provided the tools to do just that—in a convenient and accessible way. We now have a real opportunity to return value to participants.”

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All of Us is taking a phased approach to the return of genetic results and will offer additional results over time. In about a year, the program plans to begin offering participants the option to receive information about how their DNA may impact the body’s response to certain types of medicines, and about genetic variants associated with the increased risk of certain diseases.

Participants will receive information back as the All of Us program processes their DNA samples, so not all individuals will receive information immediately.

Since launching its national enrollment in 2018, more than 270,000 people have contributed biosamples and more than 80 percent come from communities that are historically underrepresented in biomedical research. These communities include racial and ethnic minorities, sexual and gender minorities, and other groups.

All of Us plans to make genetic data available to researchers in about a year, with strict privacy and security safeguards in place to protect participants’ information. The program aims to engage researchers from diverse backgrounds to undertake a wide range of studies and learn more about how to meet people’s different needs.

The program will help improve diversity in precision medicine research, leading to improved outcomes for individuals of all backgrounds.

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“We need programs like All of Us to build diverse datasets so that research findings ultimately benefit everyone,” said Brad Ozenberger, PhD, All of Us’s genomics director.

“Too many groups have been left out of research in the past, so much of what we know about genomics is based mainly on people of European ancestry. And often, genomic data are explored without critical context like environment, economics and other social determinants of health. We’re trying to help change that, enabling the entire research community to help fill in these knowledge gaps.”