Mayo Clinic to Sequence Genomic Data from 100K Participants

January 14, 2020 - Mayo Clinic is sequencing genomic data from 100,000 consented participants to support precision medicine and advance personalized care.

In partnership with Helix, a population genomics company, Mayo Clinic will create a library of genomic data to improve 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,” said Keith Stewart, MB, ChB, Carlson and Nelson Endowed director, Mayo Clinic Center for Individualized Medicine.

Mayo Clinic researchers will use Helix’s clinical Exome+ sequencing technology to read all 20,000 genes that code for proteins, as well as hundreds of thousands of regions outside the protein-coding regions that are known to be informative, and have the most impact on a person’s health. This comprehensive DNA test uses next generation sequencing technology to screen the exome for genetic variants that can significantly increase the risk of 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 effects on health-related outcomes, healthcare utilization, and physician acceptance.

For the initial part of the study, 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, 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,” said Konstantinos Lazaridis, MD, associate director, Mayo Clinic Center for Individualized Medicine and principal investigator of the Tapestry study.

The partnership with Helix will add to Mayo Clinic’s efforts to advance precision medicine research. In August 2016, the health system received a $142 million grant from NIH to create the world’s largest biobank as part of the Precision Medicine Initiative Cohort Program.

“This range of information at the scale of 1 million people will be an unprecedented resource for researchers working to understand all the factors that influence health and disease,” Francis S. Collins, MD, PhD, NIH Director, said at the time. “The more we understand about individual differences, the better able we will be to tailor the prevention and treatment of illness.”

The new collaboration will also support research at the Mayo Clinic Center for Individualized Medicine. The center aims to use patients’ unique genetic codes to more effectively and precisely diagnose, treat, predict, and eventually prevent disease.

“Now, at a time when we can routinely sequence a whole human genome and better understand the function of genes that form part of our genome, individualized medicine at Mayo Clinic has been taken to the molecular level,” Mayo Clinic stated.

“The Center for Individualized Medicine is all about solving the clinical challenges of today and tomorrow by bringing the latest discoveries from the research laboratory to your doctor's fingertips in the form of new genomics-based tests and treatments.”

Through its collaboration with Helix, Mayo Clinic will continue to pioneer genomics and precision medicine research.

“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,” said Marc Stapley, Helix CEO.