Princess Margaret Cancer Centre, part of Canada’s University Health Network (UHN), has partnered with genomics company Helix to undertake the OurGenes Study.

The study is set to enrol up to 100,000 subjects over a five-year period, focusing on precision medicine and early identification of hereditary health risks.

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Princess Margaret Cancer Early Detection and the Bhalwani Familial Cancer Clinic medical director Dr Raymond Kim is leading the study.

Subjects will undergo testing for conditions such as breast cancer gene 1/2 (BRCA1/2)-related hereditary breast and ovarian cancer, familial hypercholesterolemia, linked to high cholesterol and heart disease, and Lynch Syndrome, which is associated with colorectal and other cancers.

These are categorised as Centers for Disease Control and Prevention (CDC) Tier 1 genomic conditions.

Findings from these screenings are intended to aid individuals and their medical teams in making more informed healthcare decisions, which may contribute to delaying or preventing the onset of cancer or heart disease.

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The study’s scale will also allow researchers at Princess Margaret Cancer Centre to identify potential health disparities among different groups.

The genetic data gathered, including sequences from all protein-coding parts of the genome, will be made available for future research projects within UHN.

Biological samples from participants will be analysed through whole-exome sequencing at Helix labs to detect significant genetic variations.

Helix co-founder and CEO Dr James Lu said: “Population studies find that 90% of patients who carry serious disease risk are missed in conventional care.

“We are excited to expand universal approaches to the oncology population – improving underdiagnosis and improving care for these patients.”

Results are expected within eight to 12 weeks, accompanied by access to genetic counselling and continued updates on related genomic developments throughout each subject’s life.

Funding for the initiative comes from donations to The Princess Margaret Cancer Foundation.

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