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US National Institutes of Health All-of-Us Research Program Delivering Genetic Test Results and Personalized Disease Risk Assessments to 155,000 Study Participants

NIH program could lead to new diagnostic biomarkers for clinical laboratory tests across a more diverse segment of US population

In another milestone in the US National Institutes of Health’s (NIH) plan to gather diverse genetic information from one million US citizens and then use that data to inform clinical care in ways consistent with Precision Medicine, the NIH’s All-of-Us Research Program announced in a news release it has “begun returning personalized health-related DNA results” to more than 155,000 study participants.

In addition, those participants who request them will receive genetic reports that detail whether they “have an increased risk for specific health conditions and how their body might process certain medications.”

The All-of-Us program, which began enrolling people in 2018, is one of the world’s largest—if not the largest—project of its kind. It could result in more than a million human whole genome sequences to drive medical research and speed discoveries. Study findings, for example, may produce new biomarkers for clinical laboratory tests and diagnostics.

In 2020, the All-of-Us program “had begun releasing genetic results for ancestry and a small number of nonclinical genetic traits,” according to GenomeWeb. Now, the program is taking on the greater challenge of sharing health-related genetic test results directly with its participants.

“We really wanted to make sure that we are providing a responsible return to our participants,” Anastasia Wise, PhD, All-of-Us Program Director for the Genetic Counseling Resource, told GenomeWeb. “They might get information that’s unexpected,” she explained.

So far, about 10,000 people received the NIH’s invitation and 56% have shown interest in receiving their genetic test results, GenomeWeb noted.

Josh Denny, MD

“Knowledge is powerful,” said Josh Denny, MD (above), Chief Executive Officer, NIH All-of-Us Research Program, in an NIH news release. “By returning health-related DNA information to participants, we are changing the research paradigm, turning it into a two-way street—fueling both scientific and personal discovery that could help individuals navigate their own health,” he added. The NIH’s research could lead to new clinical laboratory precision medicine diagnostics for chronic diseases across a more diverse segment of the US population. (Photo copyright: National Institutes of Health.)

Two Types of Genetic Health Reports

Study participants who provided a blood sample and gave their consent to receiving genomic information may also receive a Hereditary Disease Risk report that includes 59 genes and genetic variants linked to serious and “medically actionable” health conditions.

About 3% to 5% of participants will have findings suggesting a high risk for a genetic disease such as breast and ovarian cancers as indicated by BRCA1 and BRCA2 genes, Medical Xpress reported.

“I kind of shudder to think about what could happen if I hadn’t known this [finding that she has the BRCA2 gene],” said Rachele Peterson, All-of-Us Chief of Staff, who spoke to the Associated Press about her receiving own Hereditary Disease Risk report.

Participants can also choose to receive an All-of-Us Medicine and Your DNA report with insights on seven genes that affect how specific medications are metabolized. This pharmacogenetics report is important for those who could learn, for example, that they have a 50% to 60% greater risk of a second heart attack when they continue to take the standard medication, as opposed to a different medication, Medical Xpress noted.

“The information on metabolizing medication can be particularly important for people who need treatment after a heart attack,” Josh Denny, MD, Chief Executive Officer, NIH All-of-Us Research Program, told Medical Xpress.

“Such transparency of genetic information about a massive group—as well as the genetic information on individuals—can be used to improve patient care and clinical outcomes,” said Robert Michel, Editor-in-Chief of Dark Daily and its sister publication The Dark Report.

“The program provides a roadmap for other healthcare organizations to follow. And this is useful strategic knowledge for clinical laboratory leaders to understand and incorporate into their plans to support precision medicine with genetic testing and whole human genome sequencing,” Michel added.

Rich Genetic Data Across a More Diverse Population

As to its goal to reflect national diversity, NIH reported about 80% of All-of-Us participants reside in communities that have been unrepresented in medical research, and that 50% are part of a racial or ethnic minority group.

In “NIH’s All-of-Us Research Program Offers Free Genetic Testing to Increase Diversity of Its Database,” Dark Daily reported on the NIH’s strategy to increase diversity of its All-of-Us database. At that time, 386,000 people were enrolled with 278,000 consenting to all program steps such as completing surveys, sharing electronic health records (EHR), and giving blood and urine samples. The All-of-Us Research Program has reportedly grown to 560,000 enrollees. 

Another large-scale research program aiming for one million whole genome sequences is the VA’s Million Veteran Program (MVP), which, as Dark Daily noted in “US Department of Veterans Affairs’ Million Veterans Program Receives Its 125,000th Whole Human Genome Sequence from Personalis Inc.,” provides researchers with a rich resource of genetic, health, lifestyle, and military-exposure data collected from questionnaires, medical records, and genetic analyses.

By combining this information into a single database, the MVP promises to advance knowledge about the complex links between genes and health, according to an MVP news release.

Researchers tapping All-of-Us and MVP data may ultimately produce enlightening and impactful study findings, which could enable clinical laboratories to perform new diagnostic precision medicine tests that identify diseases early and save lives.       

Donna Marie Pocius

Related Information:

All-of-Us Research Program Returns Genetic Health-Related Results to Participants

NIU All-of-Us Program Returns First Health-Related Genetic Results to Participants

The All-of-Us Research Program Has analyzed the Results of 155,000 Americans. The Results Are Coming In

Huge US Study Starts Sharing Gene Findings with Participants

NIH’s All-of-Us Study Hits New Milestone: Largest Scale Effort to Provide DNA Results

NIH’s All-of-Us Research Program Returns Health-Related DNA Results to Participants

Department of Veterans Affairs Million Veterans Program Receives Its 125,000 Whole Human Genome Sequence from Personalis, Inc.

NIH’s All-of-Us Research Program Offers Free Genetic Testing to Increase Diversity of Its Database