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Genetic counseling available to All of Us participants in the future

The NIH has tapped health tech company Color to provide the service.
By Laura Lovett
03:32 pm

Participants of the National Institutes of Health's All of Us program — a national research project dedicated to collecting data from a diverse population for prevention and treatment of diseases — will now have access to more insights about their genes thanks to a partnership between the program and health tech company Color. The NIH awarded the California-based company $4.6 million in funding. 

A year after launching, the NIH has reached one-fifth of its end goal of enrolling 1 million people in the U.S. 

"Returning results in a responsible way is integral to what All of Us stands for,” Eric Dishman, director of All of Us, said in a statement. "Participants are our partners in research, who may want to receive their own health data, including genomics. The genetic counseling resource will help our participants interpret and act upon their health information."

Eventually Color will be providing program participants with findings on ancestry, traits, drug-gene interactions (pharmacogenomics) and genes connected with high-risk diseases. For example, researchers predict a small percentage of participants will have the BRCA1 gene, which is linked to breast cancer. Genetic counseling can provide these participants with action steps. 

"The All of Us Research Program is a prime example of using technology to support geographically distributed and diverse research volunteers," Othman Laraki, CEO of Color, said in a statement. "This ambitious program relies on a deeply unified process, which includes engaging participants, gathering health information, sequencing genomes, interpreting data and securely and responsibly returning results.”

Late last week, the New England Journal of Medicine published the NIH’s first year updates on the project. So far, 230,000 people have enrolled, with 175,000 of those individuals having completed the core protocol. 

Researchers note they are continuing to collect data from health questionnaires, EHRs, physical measurements, digital health technologies and the collection of analysis of biospecimens. 

One of the goals of the project is to collect data about a diverse group of individuals. So far, more 80% of participants are from groups that are historically underrepresented in biomedical research. 

“Longitudinal cohort studies have improved human health by characterizing natural histories of diseases, identifying their risk factors, and revealing new biomarkers,” the authors wrote in NEJM. “However, many efforts have been hampered by an inadequate sample size and a lack of diversity among participants, restrictive policies regarding data access, or failure to capture genotype and phenotype data comprehensively. Collectively, these challenges have slowed the pace of medical discovery, decreased the generalizability of research findings, hindered reproducibility, and led to incorrect interpretations.”

Participants of the study can enroll digitally through the All of Us webpage or through their smartphone. Through this platform participants are given a 15-minute baseline health survey. If a person agrees to participate in the program and authorizes the use of the EHR, then they can have a physical measurement assessment. In addition, participants can fill out more health surveys or donate more health information, like Fitbit data. 


The world of medical research has historically come up short when it comes to enrolling a diverse group of participants for clinical trials. Just last week, JAMA Oncology published a study that found fewer than 8% of cancer drug trials included participants from all four of the major races in the U.S. (white, Asian, black and Hispanic.) All of Us is seeking to broaden the scope of research participants, and the latest investment will help them do so within the fields of genetics and precision medicine. 

“Our hope is that identification of risk factors and biomarkers (including environmental exposures, habits, and social determinants) will improve population health by bringing about more efficient and accurate diagnosis and screening, better understanding of diverse populations, more rational use of existing therapeutics, and the development of new treatments,” authors of the paper wrote. 

But as the number of participants grow, so too does the possibility of finding different genetic variants.

“We estimate that over the course of collecting and analyzing data on the entire cohort, approximately 30,000 persons will receive actionable findings for ACMG genes and more than 90% may learn of actionable pharmacogenomic variants,” authors of the report wrote in NEJM. “The All of Us program is in the process of establishing a genetic counseling resource for participants who receive actionable genetic results.”


The U.S. is far from the only government with a population health research project. Notably, Finland has launched the FinnGen Project, a public-private research partnership that aims to bring 500,000 genomic samples (roughly 10% of the Finnish population) together with health records to help understand the origins of disease, prioritize drug treatments and come up with new therapies. The project officially kicked off in 2017 and will span a six-year period. The project seeks to use the country’s unique population bottleneck and cohesive health records for genetic insights. 

The UK also has a number of initiatives. Earlier this month, three of the largest NHS trusts in England and five research institutes and charities announced they are joining the UK Health Data Research Alliancewhich was launched earlier this year and is inspired by the Global Alliance for Genomics and Health and the Human Genome Project.

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