The rapid advancement of genetic testing is creating a novel frontier in healthcare, but also raising complex ethical questions about how to responsibly share this information with patients. A new study, published March 23, 2026, in the American Journal of Human Genetics, offers a blueprint for navigating these challenges, focusing on balancing the potential benefits of early risk detection with patient privacy and understanding. The research highlights the importance of tailored communication strategies when delivering genetic risk assessments for common conditions.
For years, genetic testing was largely confined to diagnosing rare diseases. Now, increasingly affordable and accessible tests can assess an individual’s risk for common conditions like heart disease, diabetes and certain cancers. This shift presents a unique dilemma: how do healthcare providers inform patients about potential risks they may never have known existed, and how do they ensure patients are equipped to understand and act on this information? The study addresses these concerns by examining how nearly 24,000 individuals, ranging in age from 3 to 75, received results from “genome-informed risk assessments.”
A Multi-Center Effort to Understand Responsible Disclosure
The research was a collaborative effort led by the eMERGE network, a national consortium focused on integrating genomic information into routine clinical care. Researchers from Cincinnati Children’s and the University of Cincinnati, spearheaded by Leah Kottyan, PhD, and Lisa Martin, PhD, played a key role in the study. Lucinda Lawson, PhD, a Cincinnati eMERGE team member and first author of the study, worked with scientists across 10 participating centers to develop and implement a standardized approach to returning genetic risk information. The eMERGE network aims to bridge the gap between genomic research and practical healthcare applications.
Participants were tested for their risk of developing 11 common health conditions, utilizing “polygenic risk scores.” These scores assess an individual’s genetic predisposition based on the combined effect of many genetic variants. The conditions included 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). This broad range of conditions reflects the potential for genomic information to impact a wide spectrum of health outcomes.
Tailoring Communication to Risk Level and Patient Needs
The study’s findings emphasize that a one-size-fits-all approach to communicating genetic risk is not effective. Researchers employed a tiered communication strategy, varying the method of delivery based on the level of risk identified. Lower-risk results were shared through secure electronic messages or mail, providing patients with information they could review at their own pace. Although, for approximately 5,000 individuals with higher-risk findings, the team prioritized one-to-one conversations – conducted by phone, video conference, or in person – to ensure personalized support and understanding.
“We were able to complete one-on-one conversations with about 79% of adults and 68% of children,” Kottyan stated. A significant challenge, however, was simply reaching participants. When direct contact proved unsuccessful, the information was still added to the patient’s electronic medical record, along with details on how to connect with the research team for further discussion. Researchers are now analyzing how clinical behavior differs between those who received a one-on-one conversation and those who did not.
The research also revealed disparities in access to these crucial conversations. Individuals with greater access to care and socioeconomic stability – indicated by factors like higher education and homeownership – were more likely to successfully complete a one-on-one session. Insurance status also played a role in connection success, highlighting the need to address systemic barriers to equitable access to genetic information.
Addressing Barriers to Equitable Access
These findings underscore a critical point: the potential benefits of genomic medicine will not be realized equally without proactive efforts to address social determinants of health. Kottyan emphasizes that “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.” This includes exploring innovative communication channels, providing culturally sensitive counseling, and addressing financial barriers to genetic testing and follow-up care.
The study’s authors included Cynthia Prows and Agboade Sobowale from Cincinnati Children’s, alongside a large collaborative team of researchers from institutions including 23andMe Research Institute, Arizona State University, Boston Children’s Hospital, and Vanderbilt University Medical Center. The eMERGE Genomic Risk Assessment Network is funded by the National Human Genomic Research Institute, with grants totaling millions of dollars supporting this vital research. More information about the eMERGE network and its research findings can be found on their website.
image: Illustration shows pathways the participating eMERGE network members followed for sharing results from genetic risk tests.
Credit: eMERGE Network
As genomic medicine continues to evolve, this study provides valuable insights into how to navigate the ethical and practical challenges of sharing genetic risk information responsibly. Future research will focus on understanding the long-term impact of these communication strategies on patient behavior and health outcomes. The next phase of the eMERGE network’s work will involve evaluating how clinicians integrate genomic risk assessments into their practice and how patients utilize this information to build informed decisions about their health.
Disclaimer: As a physician and medical writer, I aim to provide accurate and accessible health information. This article is for general knowledge and informational purposes only, and does not constitute medical advice. We see essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.
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