Community Genetics in Eastern Québec: The Experience of the Corporation for Research and Action on Hereditary Diseases
Bibliographic record
Abstract
In the Saguenay-Lac St. Jean (SLSJ) region of Quebec, the high prevalence of some hereditary diseases has led concerned community members to create the Corporation for Research and Action on Hereditary Diseases (CORAMH) to take an active part in seeking and providing answers to this important health issue. CORAMH performs an important and unique role in the reciprocal transfer of information between community and researchers, as well as in the promotion and development of specialized services and research. It also provides a meeting ground for dialogue and dissemination of information. In particular, since 1983, CORAMH has been offering a Hereditary Disease Information and Prevention Program, mainly to SLSJ high-school clientele to convey basic genetic notions and provide information on specific hereditary diseases and on genetic determinants of health. By rallying various actors around a common table, CORAMH has come to be viewed as a community representative and can thus conduct effective mediations with decisional authorities for the development of proper health services. CORAMH also participates in reflection and research projects, such as ECOGENE-21, that aim to develop exportable infrastructures in preventive and community genetics and vanguard scientific, medical, ethical and social approaches capable of improving the population’s quality of life. CORAMH offers an intervention model that can be applied to specific hereditary disorders or complex diseases and serve other communities which will be requiring interventions on the genetic determinants of health in the upcoming decades.
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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 | 0.004 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.022 | 0.009 |
| Scholarly communication | 0.004 | 0.001 |
| Open science | 0.002 | 0.003 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.008 | 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".