Exploring expanded carrier screening in Canadian genetics services
Bibliographic record
Abstract
Expanded carrier screening (ECS) is a genetic test that can screen an individual for their carrier status for hundreds of genetic conditions. This test is not part of routine healthcare in Canada however is accessible to Canadians as a private pay genetic test. ECS has been available for approximately a decade, during which time studies have explored American and European genetic health professionals’ (GHPs) experiences and opinions of ECS and have identified potential challenges and opportunities for ECS in the genetics clinic. The opinions and experience of Canadian GHPs with ECS has yet to be explored and may be uniquely shaped by working in a public healthcare system. This study used a mixed-methods design using both quantitative (survey) and qualitative (interview) data to explore ECS in the Canadian genetics clinic. GHPs recruited to the study included genetic counsellors, geneticists and molecular geneticists currently working in Canada. The majority of survey respondents had experience counselling patients for ECS, did not have an institutional or clinic policy regarding the discussion of ECS and reported that discussions of ECS arose a few times a year. Differences in opinions were observed between respondents with the most ECS experience and those with the least. The majority of survey respondents agreed that with additional training, obstetricians, gynecologists or family physicians are best suited to provide pre-test counselling for ECS. Thematic analysis of the interviews revealed four themes related to GHP experience and opinions: ECS as a reactive option, Canadians should be made aware of ECS, public healthcare barriers to discussing ECS and GHPs as informed healthcare consumers. Overall, the insights gained from this exploratory study provide a foundation for future studies regarding ECS in Canada.
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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 | 0.007 | 0.014 |
| Meta-epidemiology (narrow) | 0.000 | 0.001 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.018 | 0.007 |
| Scholarly communication | 0.005 | 0.002 |
| Open science | 0.002 | 0.007 |
| Research integrity | 0.001 | 0.003 |
| Insufficient payload (model declined to judge) | 0.006 | 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".