Up to 100,000 Canadians could get free genomic testing in new joint study with U.S. hospitals

Dr. Keith Stewart on what the launch of this program will mean for patients and how this study can benefit Canadians for the future.

Patients at a Toronto hospital will soon have an opportunity to undergo DNA testing for conditions linked to hereditary cancer and heart disease as part of what is being billed as one of Canada’s “largest population genomics studies.”

Princess Margaret Cancer Centre is working with Helix on the initiative. There are currently 15 U.S. hospitals that have already partnered with Helix but Princess Margaret is the first Canadian hospital to join its research network. U.S. genomics company

The study, labelled “OurGenes” aims to enroll up to 100,000 participants over the next five years, offering free genetic testing for conditions linked to hereditary cancer and heart disease.

“The screening results from this study will allow participants and their healthcare team to make proactive decisions about their health, potentially delaying, reducing, or even preventing cancer or heart disease‚” officials wrote in Thursday’s news release.

The goal, researchers say, is to advance early detection and develop approaches to help people manage their health in a “personalized approach.”

How does the initiative work?

According to the release, participants will be screened for genetic conditions such as hereditary breast and ovarian cancer (BRCA1/2), Lynch syndrome, and familial hypercholesterolemia. These are classified by the U.S. Centers for Disease Control and Prevention as “Tier 1” genomic conditions due to their “clinical actionability and population health impact.”

Led by Dr. Raymond Kim, Medical Director of Cancer Early Detection and the Bhalwani Familial Cancer Clinic, at Princess Margaret, officials say results will be shared with participants and their healthcare providers within eight to twelve weeks.

For those families who are identified at “higher risk of cancer or heart disease,” they will have access to genetic counselling, regular screening and study possible interventions.

A step ‘beyond the current standard of care’

Dr. Brad Wouters, UHN’s executive vice-president of science and research, emphasizes the project is all about “moving beyond the current standard of care.”

“This is an important project that will allow us to understand the benefit of early genetic screening and to develop approaches to help participants better manage their health in a personalized approach,” he said.

Officials also explain that the study will use whole exome sequencing which examines the genetic code to identify genetic variations.

Samples from patients will be processed by the Helix Research Network, which said to be the “the largest and fastest growing precision clinical research network in the world, with population genomics programs spanning across North America.”

Helix co-founder and CEO Dr. James Lu said large-scale screening could reveal significant underdiagnosis in conventional care.

“Population studies find that 90 per cent of patients who carry serious disease risk are missed in conventional care,” he said in the news release.