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.