Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study
Bibliographic record
Abstract
Introduction MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the GCK gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians. Still, access to it by primary care healthcare professionals (HCPs), coupled with appropriate training, would improve the diagnosis and management of patients with MODY2. Thus, to evaluate the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene study), an implementation pilot study has been designed supported by the RE-AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) framework. Method and analysis Two primary care clinics will be involved in the region of Saguenay-Lac-Saint-Jean (Québec, Canada). An asynchronous online training on MODY2 and genetic testing, including pre/post questionnaires, will be provided to the HCPs. Satisfaction, adoption and maintenance indicators will be collected throughout the project for each clinic. Questionnaires for patients and professionals and focus groups with HCPs will be conducted to assess implementation. This study will document the implementation process of genetic testing in primary care by identifying facilitating and limiting factors to establish specifications for scaling up. Ethics and dissemination The present protocol has been approved by the research ethic committee of the ‘C entre intégré universitaire de santé et de services sociaux of Saguenay-Lac-Saint-Jean’ (CIUSSS-SLSJ) on 9 January 2024 and by the ‘C omité central d’éthique de la recherche ’ (CCER) of the ‘ Ministère de la Santé et des Services Sociaux ’ of Quebec (Canada) on 30 January 2024. The informed consent of participants will be obtained orally. Dissemination of the study results will involve peer-review publications, presentations at major national and international scientific conferences.
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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 | 0.136 | 0.068 |
| Meta-epidemiology (narrow) | 0.004 | 0.003 |
| Meta-epidemiology (broad) | 0.005 | 0.005 |
| Bibliometrics | 0.004 | 0.004 |
| Science and technology studies | 0.005 | 0.004 |
| Scholarly communication | 0.004 | 0.003 |
| Open science | 0.005 | 0.005 |
| Research integrity | 0.005 | 0.006 |
| Insufficient payload (model declined to judge) | 0.038 | 0.007 |
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".