NIH begins sending genetic health results to All of Us participants

NIH begins sending genetic health results to All of Us participants

As part of its All of Us research program, the National Institute of Health will release reports informing study participants if they are at increased risk for certain health conditions – and giving them pharmacogenetic information that may indicate how their body could process certain drugs.

Color Health has partnered with the NIH to offer free follow-up clinical DNA testing to those who request and receive results with pathogenic or likely pathogenic variants.


Precision medicine seeks to individualize medical care by first understanding a person’s biological risk factors, as well as how they respond to medications and treatments.

The NIH says that in the first phase of returning health-related DNA results, All of Us participants who provided a blood sample and consented to receive genomic information are invited to receive their results individually.

Participants can choose the health-related outcomes they want, if any. Then the results they choose to receive will be processed and made available to them “several weeks later”.

The program expects that 2-3% of participants will receive a result showing a pathogenic or probably pathogenic variant linked to one of the genes included in their report of hereditary disease risk.

The report could link a participant to one or more of 59 genes and variants associated with serious, medically actionable health conditions, including cancers, heart problems, blood disorders, and more.

Color Health will provide free genetic counseling services to All of Us participants, their family members and healthcare providers to discuss and interpret their results, according to the announcement.

Participants can also choose to receive results from the Drugs and Your DNA report, including seven genes known to affect how the body processes certain drugs.

Those whose results show they may be at increased risk for a serious health condition will be offered a clinical DNA test through the program’s genetic counseling resource, performed outside of the program at no cost. Color will also provide free clinical DNA testing.

The NIH says reporting to genomic study participants can help advance health equity and can serve as a catalyst for change that increases representation in medical research.

“Our participants care about their health as well as medical research,” said NIH’s Karriem Watson, All of Us research program engagement manager.

“We strive to share information with them in a responsible, accessible and impactful way that honors their trust in us and provides them with tools to continue learning more about their own health,” he said.


Ambitious genomics projects are on the rise. In addition to the NIH, organizations like Mount Sinai Health initiate genome sequencing projects involving their patients.

The Million Health Discoveries program announced a few months ago aims to sequence and analyze the DNA of one million Mount Sinai patients and link anonymized versions of their electronic health records for a personalized medicine study by Icahn School of Medicine.

Integrating personalized medicine into primary care helps increase the value of patient care, according to early adopters when asked about best practices for implementing precision medicine.

Three years ago, Northshore University HealthSystem, in partnership with Color, was able to advance its personalized medicine program at scale with a DNA program available to 10,000 eligible patients, said Dr. Peter Hulick, medical director of the Mark R. Neaman Center for The North Shore.

It was one of the largest US-based, primary care-based genomics efforts at the time.

“The Color platform is designed to specifically explore genetic information on multiple cancers – including breast, ovarian, uterine, colon, melanoma, pancreatic, stomach and stomach cancers. prostate – genetic forms of heart disease and pharmacogenomics to inform drug metabolism,” Hulick said. Health Informatics News.


“Returning information to research programs is an ethical choice, but must be done responsibly and fairly,” said Color Health Chief Scientific Officer Dr. Alicia Zhou in the statement.

“All of Us sets a new precedent for longitudinal research programs,” she added.

“Knowledge is powerful. By feeding health-related DNA information back 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 manage their own health,” said Dr. Josh Denny, executive director of the All of Us Research Program.

“This kind of partnership with our participants is crucial to building trust and fulfilling the commitment we have made to conduct research that can offer meaningful insights for all.”

Andrea Fox is the editor of Healthcare IT News.

Healthcare IT News is a HIMSS publication.

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