Investigating unmet need for clinical genetic services in Canada
Bibliographic record
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.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.014 | 0.049 |
| Meta-epidemiology (narrow) | 0.000 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.009 | 0.022 |
| Science and technology studies | 0.007 | 0.002 |
| Scholarly communication | 0.006 | 0.002 |
| Open science | 0.002 | 0.004 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".