Mayo Clinic genomics study enrolls over 100,000 people

Rochester, Minn.-based Mayo Clinic said it has enrolled more than 100,000 people in a genomics study that aims to advance personalized medicine.

The Tapestry DNA Sequencing Research Study sequences the exomes of patients and links the results to their EHRs to tailor prevention, diagnosis and treatment of three hereditary conditions: familial hypercholesterolemia (a type of high cholesterol); hereditary breast and ovarian cancer syndrome; and Lynch syndrome (a kind of colorectal cancer).

The Mayo Clinic Center for Individualized Medicine said March 7 it finished study recruitment almost a year and a half ahead of schedule. The project has 114,000 participants, with 94,000 exomes already having been sequenced. About 1.8% of the patients' genomes carried a variant that ups their risk for one of the three diseases; they have been offered genetic counseling and provided referrals when necessary.

Raw data on the patients' exomes are also available for use by researchers.

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