A nationwide National Institutes of Health study recently has begun providing personalized health-related genetic information to more than 155,000 study participants, including RUSH patients.
Launched in 2017, the All of Us Research Program seeks to enroll 1 million people in the United States, particularly from communities historically underrepresented in medical research, to compile a repository of data about their genetics, lifestyle and environment that medical researchers can use in studies. RUSH is among the sites of study, which is continuing to recruit participants.
Participants’ identities are kept anonymous. “Your name is not included in any of the data we’re collecting,” says Raj C. Shah, MD, site principal investigator for the All of Us Study at RUSH and a professor in the Department in Family and Preventive Medicine and the RUSH Alzheimer’s Disease Center.
By making aggregated data available to researchers, All of Us seeks to accelerate health research and medical breakthroughs that can lead to individualized prevention, treatment and care. “The goal is to advance the early part of translational science,” Shah says.
“We look for patterns in the data, and that helps us to decide where we need to invest resources for studies or clinical trials of interventions that might be tailored to individuals and their genetics, lifestyle and environment. That’s missing link right now. How can we apply people’s research data to clinical care?”
Participants who provided a blood sample and consented to receive genomic information are being individually invited to receive their results. They can choose which health-related results they want, if any. Genetic counselors are available to meet with participants and their family members or health care provider to discuss and interpret their results.
“Knowledge is powerful. 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,” said Josh Denny, MD, MS. chief executive officer of the All of Us Research Program.
The program’s Hereditary Disease Risk report includes 59 genes and variants that are associated with increased risk of specific cancers, heart conditions, blood disorders and other serious, medically-actionable health conditions. The program anticipates that 2 to 3% of participants will receive a result showing they may have an increased risk of a serious health condition. They will be offered a clinical DNA test through the program’s genetic counseling resource, conducted outside of the program at no cost.
Participants can also choose to receive a Medicine and Your DNA report, which includes seven genes that are known to affect how the body processes certain medicines. Nearly all participants will learn more about how their bodies process medicines based on these results, but participants are advised to consult a health care provider and undergo the appropriate clinical testing prior to considering changes to medications.
The program also provides genetic ancestry and trait results to participants who choose to receive it, offering them to more than 175,000 participants since December 2020. All of Us will continue to make genetic ancestry results and health-related DNA information available to participants as their DNA samples are processed.
All of Us works with a consortium of national and community partners across the United States to help reach people and collect DNA samples and data from surveys, physical measurements, electronic health records and wearable devices. To date, All of Us has enrolled more than 570,000 participants and RUSH has enrolled about 2,800, with a goal of at least 5,000 before the anticipated completion of study enrollment by the end of 2025.
“We’re moving in the right direction,” Shah says, despite the obstacles caused by the COVID-19 pandemic. Most of the RUSH participants are patients, including employees who receive their care at RUSH.
“One of the unique things about the All of Us program and why we were excited to participate, is the emphasis on including diverse populations,” which include not only diverse racial and ethnic groups but also diversity in age, sexual orientation, disability, education levels, income and geography. “At RUSH, almost 78% of the participants meet the NIH definition of underrepresented in biomedical research.”
Because the participants have agreed to share future health information, their collective biomedical data will yield continuing and increasing insights about health conditions. “It gains value every year that people are followed, even if it’s just with their electronic medical records,” Shah says.
“I’m grateful to our participants and partners at RUSH and in the Chicago area for helping us to build one of the largest and most diverse biomedical data sets. The study has been building trust with participants in a deliberate way, and we hope more people will want to join this journey. We’d love for more people to feel confident we could be the site for them to navigate through the All of Us Research Program.”