As modern medicine leaps forward in its ability to quickly and more-affordably run genetic disease risk tests, ethical questions have swirled about how best to inform people about risk findings they may have had no idea were coming.
What information should stay in de-identified research databases? What should be uploaded into electronic medical records? Who should have access to those records? How much do people want to know about potential bad news in their genetic blueprint? And how should counseling be handled?
Over the past six years, a team of Cincinnati Children’s and University of Cincinnati experts led by Leah Kottyan, PhD and Lisa Martin, PhD, has been part of a national effort called eMERGE to understand how genetic information can be used responsibly in everyday healthcare. Now, a study published March 23, 2026 , in the American Journal of Human Genetics provides a blueprint for how to feed important information to clinicians while also respecting patient needs for understanding, privacy and agency.
Cincinnati eMERGE team member and first author Lucinda Lawson, PhD, worked with scientists across 10 participating centers in the eMERGE network to describe how researchers returned “genome-informed risk assessments” to nearly 24,000 people, ages 3 to 75, who were tested for their risk of developing any of 11 common health conditions.
The testing produced “polygenic risk scores” for asthma, (pediatric only), type 1 diabetes (pediatric only), obesity, type 2 diabetes, atrial fibrillation (adult only), chronic kidney disease (adult only), heart disease (adult only), high blood cholesterol (adult only), colorectal disease (adult only), prostate cancer (adult male only), and breast cancer (adult female only).
Multi-level communication effort
Results were shared with participants using methods that varied by the type of result. Lower-risk results were shared by secure electronic messages or by mail. But for nearly 5,000 people with higher-risk findings, the team tried to deliver results through one-to-one conversations (by phone, video, or in person).
“We were able to complete one-on-one conversations with about 79% of adults and 68% of children,” Kottyan says. “Our biggest challenge was also the simplest: sometimes the team simply could not reach participants.”
When higher-risk people could not be reached for one-to-one sharing of high-risk results, the information was still included in their electronic medical records along with information about how the clinician and patient could reach the research group. Ongoing analyses will focus on how clinician and patient behaviors differ between groups that did or did not receive a one-to-one conversations.
The team also sought to understand why some people were more likely to complete a one-on-one conversation than others. They found that people with markers of greater access to care and stability (such as higher education or homeownership) were more likely to successfully complete a one-to-one session. Connection success also differed by insurance status.
“These findings show that returning genetic risk information at this scale is possible,” Kottyan says. “However, health systems will need better, more flexible ways to contact and support patients so that everyone can benefit equally--especially when the results are higher-risk and may lead to earlier screening, prevention steps, or follow-up care.”
About the study
Cincinnati Children’s co-authors also included Cynthia Prows and Agboade Sobowale.
The 70 co-authors also included researchers with the 23andMe Research Institute, Arizona State University, Boston Children’s Hospital, the Broad Institute, Brigham and Women’s Hospital, Children’s Hospital of Philadelphia, Columbia University, Harvard University, the Icahn School of Medicine at Mount Sinai, Invitae (now part of Labcorp), Massachusetts General Hospital, Mayo Clinic, the Medical College of Wisconsin, Mountain Park Health Center, the National Human Genome Research Institute, Northwestern University, Tulane University, the University of Alabama at Birmingham, the University of Washington, Vanderbilt University, and the Washington State Department of Health.
The eMERGE Genomic Risk Assessment Network is funded by the National Human Genomic Research Institute through the following grants: U01HG011172 (Cincinnati Children’s); U01HG011175 (Children’s Hospital of Philadelphia); U01HG008680 (Columbia University); U01HG011176 (Icahn School of Medicine at Mount Sinai); U01HG008685 (Mass General Brigham); U01HG006379 (Mayo Clinic); U01HG011169 (Northwestern University); U01HG011167 (University of Alabama at Birmingham); U01HG008657 (University of Washington); U01HG011181 and U01HG011166 (Vanderbilt University Medical Center).
Learn more about other research findings from the eMERGE network
American Journal of Human Genetics
Data/statistical analysis
People
Return of genome-informed risk assessment results for common conditions to 23,840 adults and children: an eMERGE Network Study
23-Mar-2026