Credit: NIH
When Mayo Clinic researchers sequenced the genomes of 484 seemingly healthy adults, they found that about 13% carried a serious, previously unrecognized genomic risk—conditions those patients did not know about and that standard care would likely miss. Nearly all participants, 98.6%, had at least one genetic finding, and for most, the results called for monitoring.
Among the 13%, the actionable findings pointed to serious risks, including hereditary breast and ovarian cancer; Lynch syndrome, linked to colorectal cancer; cardiomyopathy; long QT syndrome; and amyloidosis.
“These are people traditional testing based on symptoms or family history would not identify,” said Konstantinos Lazaridis, senior author of the study, published in Genetics in Medicine. “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.”
Identifying the risk, it turns out, is the easiest part. Acting on it is far more complex. Most participants with actionable findings followed through, completing referrals and connecting with primary care specialists. Yet fewer than half had a documented conversation with a primary care professional after receiving results—underscoring how difficult it remains to integrate genomic findings into routine care.
Overall, the study positions predictive genomic screening as both a clinical opportunity and a systems challenge. At Mayo Clinic, this is being achieved through an initiative called Precure. Powered by advanced computing and artificial intelligence (AI), the initiative currently focuses on five organ systems—the brain, heart, kidneys, liver and lungs—studying conditions such as Alzheimer's disease, heart failure and chronic liver disease to better understand how they emerge and progress.
Data from Mayo Clinic