What You Should Know:
– University Health Network’s (UHN’s) Princess Margaret Cancer Centre and Helix, a precision health organization, today announced a landmark partnership to launch one of the largest population genomics studies in Canada.
– The initiative, known as the OurGenes Study, aims to enroll up to 100,000 participants over five years, advancing precision medicine and the early detection of hereditary health risks.
Targeting Actionable Hereditary Health Risks
The OurGenes Study is focused on providing participants with screening for well-established genetic conditions. These conditions are classified as Centers for Disease Control and Prevention (CDC) Tier 1 genomic conditions due to their clinical actionability and population health impact.
Specific conditions being screened include:
- Hereditary Breast and Ovarian Cancer (BRCA1/2)
- Lynch Syndrome (associated with colorectal and other cancers)
- Familial Hypercholesterolemia (an inherited condition linked to high cholesterol and cardiovascular risk)
The screening results will allow participants and their healthcare teams to make proactive decisions about their health, with the potential to delay, reduce, or even prevent cancer or heart disease.
Leveraging Scale to Overcome Underdiagnosis
The study is led by Dr. Raymond Kim, Medical Director of Cancer Early Detection at Princess Margaret. Participants’ samples will be sent to Helix for whole exome sequencing, which comprehensively analyzes the genetic code to identify meaningful variations.
- Timeline and Support: Results will be returned to participants within eight to twelve weeks, along with access to genetic counselling and ongoing genomic insights about their health throughout their lifetime.
- Research Impact: Participants’ genetic information, which includes the entire protein-coding regions of the genome, will also be available to support future research at UHN.
The sheer scale of the study is critical to improving current healthcare deficiencies. Population studies often find that 90% of patients who carry serious disease risk are missed in conventional care. By conducting screening at scale, the Princess Margaret Cancer Centre, Canada’s largest comprehensive cancer centre, will also be able to identify and address health risks that may be disproportionately affecting certain communities.
“UHN is moving beyond the current standard of care, offering patients and their providers a powerful tool to take greater control of their health outcomes,” said Dr. Brad Wouters, UHN’s Executive Vice President of Science and Research. Participation in this research study is voluntary and free.
