Health-Related Direct-Access Genetic Testing: An Environmental Scan of Current Landscape in Canada

Key Messages

What Is Health-Related Direct-Access Genetic Testing?

• Health-related direct-access genetic testing refers to privately paid genetic testing intended to provide health-related information. It is accessed outside publicly funded testing pathways with or without the involvement of a health care professional.
• These tests may provide information regarding medication response, cancer risk, carrier status, risk for certain health conditions, or broader genomic findings. Concerns may arise when results are difficult to interpret or when they require clinical confirmation, counselling, or follow-up care.

What Did We Do?

• We conducted an environmental scan to identify health-related direct-access genetic testing products available in Canada. We also identified and summarized information on consumer motivations, experiences, and clinician readiness.
• We searched key resources, including journal citation databases, and conducted a focused internet search for relevant evidence published since 2016. One reviewer screened articles based on the scope of the review and narratively summarized the findings.

What Did We Find?

• We identified 33 unique health-related direct-access genetic testing products from 13 service providers. Of these, 16 products required clinician approval or ordering, 10 were direct-to-consumer (DTC) tests that could be accessed without clinician involvement, and 7 products used a hybrid-access model that allowed either consumer initiation or clinician requisition.
• Test products varied by types and intended use. DTC genetic testing mainly focused on pharmacogenomic testing, which provides information on how genetic variants may affect medication response. Clinician-required and hybrid-access services also included hereditary cancer testing, tumour genomic profiling, targeted gene panels, whole-exome sequencing (i.e., analysis of the protein-coding regions of the genome), and whole-genome sequencing.
• Seventeen of the 33 products reported some form of consultation or posttest support, such as genetic counselling, pharmacist consultation, or clinician-facing consultation.
• Individuals may seek these tests for various reasons, such as curiosity, medication guidance, disease risk information, or to address perceived gaps in the health care system. Consumers also reported concerns about unexpected findings and the related emotional distress, privacy, data security, and uncertainty about the clinical validity of results. Some people found results difficult to interpret and preferred professional support.
• Genetic specialists generally reported being confident in interpreting test results but may have limited resources or time to provide routine counselling. Primary care clinicians reported being less equipped to interpret results, even though patients frequently turn to them first for help after testing.

What Does This Mean?

• Test products varied in access pathway, intended use, consultation support, and cost. This may affect consumer experiences and support needs, particularly when information is unclear, interpretation is limited, or follow-up care is difficult to access.
• Primary care clinicians and other specialists without specialized training in genetics may need additional guidance or resources to assess test results and support patients who present these results during clinical care.
• Although these tests are privately paid, results may lead consumers to seek confirmatory testing, counselling, referral, or follow-up care within the public health care system. This may raise questions about resource planning, including how responsibilities are shared among commercial service providers, clinicians, and publicly funded services.
• Most evidence was identified from studies conducted outside Canada and focused on DTC genetic testing. Therefore, findings may not be fully applicable to clinician-required and hybrid-access testing models or to the Canadian context.