The goal of this study is to develop an effective, sensitive blood test that can detect early tumours in patients with known or suspected hereditary cancer syndromes (HCS). If this new blood test is accurate, it could be used to screen patients for cancer and allow for earlier cancer detection. The study will also use questionnaires and interviews to understand how patients feel about incorporating these tests into routine medical care, and the perceptions of the medical value of test results.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
1. Individual with any known or suspected hereditary cancer predisposition (i.e. individuals with an identified pathogenic or likely pathogenic variant in a cancer predisposition gene and/or a family history of cancer without an identified gene mutation) at any stage in their cancer journey (ie: cancer survivor, unaffected with cancer, current cancer patient).
2. Individual must be greater than 18 years of age
3. Individual must speak English or French to participate in the qualitative interview and/or survey
Exclusion Criteria:
1\. Individuals that do not meet the outlined inclusion criteria.
Primary outcome measure(s)
Collection of biospecimens from 1500 HSC carriers. — up to 4 years Facilitate and streamline the collection, banking, and annotation of plasma samples and tumour tissue (if applicable) across Canada.
Collection of clinical data from 1500 HSC carriers. — up to 4 years Extract clinical data for all study participants from electronic medical records. Data collection will include family history and medical history.
Detection of early stage cancer in HCS patients using cfDNA. — up to 4 years Detect concentration of cfDNA circulating in the blood by shallow whole-genome sequencing, targeted panel analysis, and cfMeDIP.
Evaluation of the clinical utility of a cfDNA test for HSC patients. — up to 4 years Conduct qualitative interviews with healthcare providers and patients.
Evaluation of the optimal implementation of cfDNA in clinical practice. — up to 4 years Conduct a discrete choice experiment survey with HCS patient and providers.
Evaluation of cfDNA test implementation through cost-effectiveness analysis of cfDNA versus standard of care. — up to 4 years Conduct economic modelling using the economic evaluation guidelines from the Canadian Agency for Drugs and Technologies in Health.
Trial sites (7)
Facility
City
Region
Status
BC Cancer Agency
Vancouver
British Columbia
Eastern Health
St. John's
Newfoundland and Labrador
IWK Health Centre
Halifax
Nova Scotia
Sinai Health System
Toronto
Ontario
University Health Network
Toronto
Ontario
Women's College Hospital
Toronto
Ontario
Jewish General Hospital
Montreal
Quebec
More University Health Network, Toronto trials in Canada
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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