Genome Sequencing Uncovers Hidden Genetic Risks in Healthy Adults

Genetic risk for serious diseases can go undetected in routine care, limiting opportunities for earlier intervention. Translating genomic data into actionable care plans also creates operational challenges for health systems. A new study shows how genome sequencing in generally healthy adults can uncover medically actionable findings and define the clinical workflows needed to respond.

Mayo Clinic (Rochester, MN, USA) investigators evaluated predictive genome sequencing in the PREDICT Study, which analyzed the genomes of 484 generally healthy adults and reported outcomes in Genetics in Medicine. About 13% of participants carried a serious, previously unrecognized genetic risk that standard care would likely miss, including hereditary breast and ovarian cancer, Lynch syndrome linked to colorectal cancer, cardiomyopathy, long QT syndrome, and amyloidosis. Nearly all participants (98.6%) had at least one genetic finding, and most results prompted monitoring recommendations.

The operational pathway from discovery to care required substantial clinical interpretation, documentation, and communication for nearly every case. Genetic counselors performed much of this work, reviewing results, preparing individualized summaries, and guiding next steps for patients and care teams. Most participants with actionable findings completed referrals and connected with relevant specialists, yet fewer than half had a documented conversation with a primary care professional after receiving results, underscoring persistent challenges integrating genomic data into routine workflows.

The study frames predictive genomic screening as both a clinical opportunity and a systems challenge. To address the implementation gap, Mayo Clinic has launched Precure, an enterprise-wide effort that integrates genomic screening with other biological signals to detect disease earlier. Powered by advanced computing and artificial intelligence (AI), Precure currently focuses on the brain, heart, kidneys, liver, and lungs, examining conditions such as Alzheimer’s disease, heart failure, and chronic liver disease. The work draws on expertise across the organization and is supported by Mayo Clinic Platform.

"These are people who would not have been identified through traditional testing based on symptoms or family history. This study helps define the blueprint for integrating genomic insight into care at scale—turning information into decisions that can change the trajectory of disease," said Dr. Konstantinos Lazaridis, the Carlson and Nelson Endowed Executive Director of the Center for Individualized Medicine and senior author of the study.

"Genetic counselors are often the first people to share this kind of information with patients. There can be surprise, anxiety, devastation, and at times even relief. Our role is to meet people in that moment and help them understand what their health risks might be, based on the genetic finding, and their personal and family history," said Jessa Bidwell, a certified research genetic counselor and first author of the study.

Related Links
Mayo Clinic