Research & Discovery > Tapestry Study Reaches Participant Milestone

Tapestry Study Reaches Participant Milestone

Compiled by Rich Polikoff Illustration by Cheryl Sorg

Mayo Clinic's largest-ever decentralized study, Tapestry, reached a major milestone when it analyzed DNA from its 100,000th participant.

The Tapestry study has generated an unprecedented volume of exome data for the Center for Individualized Medicine and its investigators. This information is revealing important insights into certain genetic predispositions to support personalized and proactive medical guidance for patients.

Konstantinos Lazaridis, M.D., the Carlson and Nelson Endowed Executive Director for the Center for Individualized Medicine and the Ting Tsung and Wei Fong Chao Professor of Individualized Medicine Research, leads the project.

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“The implications of the Tapestry study are monumental,” says Dr. Lazaridis. “As this study continues to inform and transform the practice of personalized medicine, it also sets a new standard for how large-scale medical research can be conducted in an increasingly digital and decentralized world.”

A diverse group of participants from Mayo Clinic’s three campuses have provided saliva samples. Researchers use these samples to extract germline DNA for exome sequencing. Exome sequencing analyzes nearly 20,000 genes that provide instructions for making proteins, which play many critical roles in health and disease. Exomes are where most known disease-causing pathogenic or likely pathogenic genetic variants occur.

The findings of a recent study, published in Mayo Clinic Proceedings, focused on disease-causing genetic variants linked to three specific conditions: hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia. Findings revealed that 1.9% of participants — nearly 2,000 people — carried at least one genetic variant that could increase their risk for these diseases. Notably, about 65% of those with a detected variant had no known prior personal or family history of the conditions.

In addition to its impact on participants’ healthcare, one of the most significant outcomes of the Tapestry study is the creation of a comprehensive genetic data repository, which supports ongoing individual projects and fosters a collaborative environment where researchers can exchange ideas and findings to increase the potential for medical breakthroughs.