Mayo genomic database to use sequencing for 100K participants

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The Mayo Clinic has teamed with population genomics vendor Helix to build a library of genomic sequencing data on 100,000 volunteers, who will be initially screened for three hereditary conditions.

The collaboration will leverage Helix’s clinical Exome+ sequencing technology, which reads all 20,000 genes that code for proteins, as well as Next Generation Sequencing technology to screen the exome for genetic variants that can significantly increase the risk for disease.

“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, the Carlson and Nelson Endowed director of the Mayo Clinic Center for Individualized Medicine.

Participants in the first part of the study—called Tapestry—will receive screening results for familial hypercholesterolemia, 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, MD, principal investigator of the Tapestry study and associate director of the Mayo Clinic Center for Individualized Medicine.

The Mayo Clinic, which has a financial interest in Helix, intends to “evaluate the benefits of Exome+ sequencing and the short- and long-term impact on health-related outcomes, healthcare utilization and physician acceptance.”

According to Helix, Exome+ offers not just the whole exome—where information about diseases is most likely to be found—but also hundreds of thousands of other areas of interest in the genome that can lead to insights, as well as the mitochondrial DNA sequence which is of interest for some diseases.

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

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