Rochester, Minn.-based Mayo Clinic has begun integrating action items from genetic tests into health records for more than 100,000 patients who participated in an exome study for biomedical breakthroughs over the last four years.
The study analyzed DNA from a diverse patient population to gain information on genetic predispositions. The patients received genetic counseling and proactive medical guidance related to hereditary breast and overian cancer syndrome, Lynch syndrome and familial hypercholesteromia. Two-thousand participants had at least one genetic variant increasing their risk of disease, and 65% of those patients didn't have prior family history of the conditions.
Some patients chose to take proactive steps including early screenings and treatments to prevent disease after receiving their results.
"Receiving genetic information can be difficult, but it also empowers patients to take proactive steps for their health," says Jennifer Kemppainen, CGC, supervisor of the Mayo Clinic Genetic Testing and Counseling unit and part of the Tapestry study team. "We help patients understand their results and educate them about screening and management options, so they feel prepared to meet with specialists and make informed decisions about their care."
Mayo hopes including the DNA test information and actionable insights will improve outcomes.
The health system also created a comprehensive genetic data repository with the DNA information, and 118 research requests have already been submitted. Mayo plans to use the data repository to support research projects and build a collaborative environment accelerating breakthroughs.
"What we've accomplished with the Tapestry study is a blueprint for future endeavors in medical science," Konstantinos Lazaridis, MD, who led the study. "It demonstrates that through innovation, determination and collaboration, we can deeply advance our understanding of DNA function and eventually other bio-molecules like RNA, proteins and metabolites, turning them into novel diagnostic tools to improve health, prevent illness and even treat disease."