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Mayo Clinic, Helix to study the genetics of 100,000 patients

Dr. Konstantinos Lazaridis poses for a portrait in 2018 at the Mayo Clinic. David Thomas Markley / Studio at Getty Images for Healthleaders
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ROCHESTER, Minn. — Mayo Clinic is partnering with a California-based firm to recruit 100,000 patients to participate in genetic testing to discover possible health problems and help develop a research database.

Working with the genomics company Helix, Mayo Clinic is looking for patients to participate in a study called Tapestry that will initially test for 11 genes that signal three hereditary medical conditions, explained Dr. Konstantinos Lazaridis, the lead investigator of the study and associate director of the Mayo Clinic Center for Individualized Medicine.

That means the Tapestry team, led by Dr. Keith Stewart, director of the Mayo Clinic Center for Individualized Medicine, will reach out to patients to see if they would like to participate in the study. If they choose to participate, a saliva sample will be taken for testing.

Within a few weeks, the test for the 11 genes will be completed. The genes are ones that signal predisposition to hereditary breast and ovarian cancer, familial hypercholesterolemia, and Lynch syndrome, a form of hereditary colorectal cancer. If any of the 11 genes are identified, the patients will be notified and the data will be added to their Mayo Clinic medical record.

“We’ll provide the patients with genetic counseling,” Lazaridis said. “These conditions are actionable.” That means patients can do something in an effort to treat or prevent the conditions.


Positive results could encourage patients to have family members tested for the conditions.

“I call this the ‘ripple effect,’ ” he said.

The recruitment of patients is expected to begin in February. Lazaridis said they hope to test 100,000 patients within five years. The genetic data from the testing will be used in a Helix database as well as a Mayo Clinic research database.

Patient data to be used for medical research is at the heart of this project. The ultimate goal will be to map the entire genetic picture or exome of each of the 100,000 patients. That information will then be a tool researchers can use to develop better medical tests and treatments.

“We believe that whole exome sequencing has the potential to reveal predispositions to health problems and enable earlier use of preventive measures throughout a person’s lifespan,” Stewart said in the announcement of the Helix/Tapestry study.

This study is not connected to Mayo Clinic’s GeneGuide genetic test that it developed with Helix, nor is it linked to Mayo Clinic’s project with Regeneron, which also involved the medical data of 100,000 patients. Patients will opt into Tapestry; the Regeneron deal involves anonymous data from patients.

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