Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study
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 in...
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BMJ Publishing Group
2025-01-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/15/1/e089642.full |
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| author | Marie-Ève Poitras Luigi Bouchard Samuel Legeay Vanessa Tremblay-Vaillancourt Amélie Fournier Josianne Leblanc Philippe Caron Catherine Savard Nathalie Bettez Karine Tremblay |
| author_facet | Marie-Ève Poitras Luigi Bouchard Samuel Legeay Vanessa Tremblay-Vaillancourt Amélie Fournier Josianne Leblanc Philippe Caron Catherine Savard Nathalie Bettez Karine Tremblay |
| author_sort | Marie-Ève Poitras |
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| description | 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 ‘Centre intégré universitaire de santé et de services sociaux of Saguenay-Lac-Saint-Jean’ (CIUSSS-SLSJ) on 9 January 2024 and by the ‘Comité 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. |
| format | Article |
| id | doaj-art-5bface474b154da896c62a97f3f8dba4 |
| institution | Kabale University |
| issn | 2044-6055 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open |
| spelling | doaj-art-5bface474b154da896c62a97f3f8dba42025-01-10T06:30:13ZengBMJ Publishing GroupBMJ Open2044-60552025-01-0115110.1136/bmjopen-2024-089642Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot studyMarie-Ève Poitras0Luigi Bouchard1Samuel Legeay2Vanessa Tremblay-Vaillancourt3Amélie Fournier4Josianne Leblanc5Philippe Caron6Catherine Savard7Nathalie Bettez8Karine Tremblay93 Research Centre of Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean (CIUSSS-SLSJ), Saguenay, Quebec, Canada3 Research Centre of Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean (CIUSSS-SLSJ), Saguenay, Quebec, Canada1 Univ Angers, POPS (Préventions, organisations et parcours en soins primaires), SFR ICAT, University of Angers Faculty of Pharmacy, Angers, Pays de la Loire, France3 Research Centre of Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean (CIUSSS-SLSJ), Saguenay, Quebec, Canada3 Research Centre of Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean (CIUSSS-SLSJ), Saguenay, Quebec, Canada5 Department of Laboratory Medicine, CIUSSS Saguenay-Lac-St-Jean, Québec, Canada, Saguenay, Quebec, Canada6 Endocrinology, CIUSSS Saguenay-Lac-St-Jean, Québec, Canada, Saguenay, Quebec, Canada7 Department of Family Medicine and Emergency Medicine, Université de Sherbrooke, Sherbrooke, Quebec, Canada7 Department of Family Medicine and Emergency Medicine, Université de Sherbrooke, Sherbrooke, Quebec, Canada3 Research Centre of Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean (CIUSSS-SLSJ), Saguenay, Quebec, CanadaIntroduction 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 ‘Centre intégré universitaire de santé et de services sociaux of Saguenay-Lac-Saint-Jean’ (CIUSSS-SLSJ) on 9 January 2024 and by the ‘Comité 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.https://bmjopen.bmj.com/content/15/1/e089642.full |
| spellingShingle | Marie-Ève Poitras Luigi Bouchard Samuel Legeay Vanessa Tremblay-Vaillancourt Amélie Fournier Josianne Leblanc Philippe Caron Catherine Savard Nathalie Bettez Karine Tremblay Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study BMJ Open |
| title | Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study |
| title_full | Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study |
| title_fullStr | Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study |
| title_full_unstemmed | Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study |
| title_short | Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study |
| title_sort | evaluation of the implementation in primary care of genetic testing for the screening of mody2 imogene protocol for an implementation pilot study |
| url | https://bmjopen.bmj.com/content/15/1/e089642.full |
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