• By Colette Gallagher

Mayo Clinic to sequence 100K participants to build genomic database for improved care and research in collaboration with Helix

January 9, 2020
DNA extraction

ROCHESTER, Minn. — Mayo Clinic is creating a library of genomic sequencing data on 100,000 consented Mayo Clinic participants to advance research and patient care.

“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,” says Keith Stewart, M.B., Ch.B., Carlson and Nelson Endowed director, Mayo Clinic Center for Individualized Medicine.

Mayo is collaborating with Helix, a population genomics company. Helix’s clinical Exome+ sequencing is a technology that reads all 20,000 genes that code for proteins, plus hundreds of thousands of regions outside the protein-coding regions that are known to be informative, and thus have the most impact on an individual’s health. This comprehensive DNA test uses Next Generation Sequencing technology to screen the exome for genetic variants that can significantly increase the risk for disease.

Participants’ DNA will undergo Exome+ sequencing with results returned over time to the participant, as well as their Mayo Clinic provider. This will allow Mayo to evaluate the benefits of Exome+ sequencing and the short- and long-term impact on health-related outcomes, health care utilization and physician acceptance.

For the initial part of the study, known as Tapestry, participants will receive results of screening for three highly actionable hereditary conditions that often go unrecognized, including familial hypercholesterolemia (FH), hereditary breast and ovarian cancer (BRCA1 and BRCA2), and Lynch syndrome, a form of hereditary colorectal cancer.

“Many individuals affected by these conditions are not aware they are at risk, but genetic screening can lead to diagnoses for individuals and their families,” says Konstantinos Lazaridis, M.D., associate director, Mayo Clinic Center for Individualized Medicine and principal investigator of the Tapestry study.

“We agree that Exome+ sequencing has the potential to impact health-related outcomes for many individuals. We look forward to working with Mayo to accelerate the integration of genomics into standard patient care and drive novel genetic discovery,” says Marc Stapley, Helix CEO.

Disclosure: Mayo Clinic has a financial interest in Helix.

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About Mayo Clinic Center for Individualized Medicine
The Center for Individualized Medicine discovers and integrates the latest in genomic, molecular and clinical sciences into personalized care for each Mayo Clinic patient.  Learn more about the Center for Individualized Medicine.

About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news and An Inside Look at Mayo Clinic for more information about Mayo.

About Helix
Helix is a population genomics company with a mission to empower every person to improve their life through DNA. Helix is accelerating the integration of genomic data into clinical care and broadening the impact of large-scale population health programs by providing comprehensive expertise in DNA sequencing, bioinformatics and individual engagement. Powered by their proprietary Exome+™ assay — a panel-grade clinical exome enhanced by more than 300,000 informative non-coding regions — Helix partners with health systems to provide a scalable solution which enables the discovery of medically relevant, potentially life-saving, genetic information. Additionally, Helix offers a suite of DNA-powered products for continued individual engagement and discovery. Helix is headquartered in the San Francisco Bay Area and has one of the world’s largest CLIA-certified, CAP-accredited Next Generation Sequencing labs, located in San Diego, California. Learn more at www.helix.com. Helix, the Helix logo, and Exome+ are trademarks of Helix Opco, LLC.

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