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Abstract

Genetic counselling and genetic testing can have many positive outcomes for patients and families. Despite the benefits, there is unmet need for clinical genetic services amongst Canadians. The aims of this research were to characterize the top of scope of genetic counselling practice, estimate the prevalence and distribution of unmet need for genetic counselling, and explore public perspectives about unmet need for genetic testing. This research involved a multi-methods approach including a scoping review, survey, and interviews. Data collection approaches included a systematic literature search (148 included papers), a cross-sectional survey distributed through a market research company (n=1289), and semi-structured one-on-one virtual interviews (n=19). Data analysis occurred through narrative synthesis for the scoping review, survey data was analyzed using descriptive statistics, univariate analysis, and a stepwise multivariable regression analysis, and qualitative analysis was conducted using interpretive description and reflexive thematic analysis. Top of scope genetic counselling practice can be described as a psychologically-oriented process, however, there are variations in the evidence about the goals, processes, outcomes, theories, models, and frameworks of genetic counselling practice. Through this understanding of top of scope of genetic counselling practice, it was found that up to 39% of Canadians may have unmet need for genetic counselling and that it was more likely in younger individuals, those with mental health concerns, individuals with lower levels of capability, and those with higher perceived utility. In the interviews, participants self-reported need for genetic testing was shaped by their past experiences with genetic information and their beliefs about its usefulness, both in terms of clinical actionability (clinical utility) and personal significance (personal utility). Although most participants did not meet the eligibility criteria for publicly funded testing based on their personal and family history, they still had unaddressed informational and psychological needs. Unmet expectations about genetic testing contributed to a sense of dissatisfaction and distrust among the public. There is unmet need for genetic counselling and genetic testing in Canada that is unlikely to be met through current service delivery and more efforts are needed to increase equitable access to genetics healthcare.