Legeay Samuel, Poitras Marie-Eve, Tremblay-Vaillancourt Vanessa, Fournier Amélie, Bouchard Luigi, Leblanc Josianne, Caron Philippe, Savard Catherine, Bettez Nathalie, Tremblay Karine
Univ Angers, POPS (Préventions, organisations et parcours en soins primaires), SFR ICAT, University of Angers Faculty of Pharmacy, Angers, Pays de la Loire, France.
Department of Family Medicine and Emergency Medicine, University of Sherbrooke Faculty of Medicine and Health Sciences, Sherbrooke, Quebec, Canada.
BMJ Open. 2025 Jan 9;15(1):e089642. doi: 10.1136/bmjopen-2024-089642.
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 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.
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.
The present protocol has been approved by the research ethic committee of the 'C (CIUSSS-SLSJ) on 9 January 2024 and by the 'C' (CCER) of the '' 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.
青少年发病的成年型糖尿病2型（MODY2，MIM125851）是一种单基因糖尿病，由该基因的一个变体引起，呈常染色体显性遗传。MODY2常与1型或2型糖尿病混淆，但尽管血糖水平略有升高，它不会引发长期血管并发症，也不需要药物治疗。目前，用于诊断MODY2的基因检测仅针对基因专家和部分医生。不过，初级保健医护人员（HCPs）若能进行检测并接受适当培训，将有助于改善MODY2患者的诊断和管理。因此，为评估用于筛查MODY2的基因检测在初级保健中的实施情况（iMOgene研究），一项实施试点研究已在RE-AIM（覆盖范围、有效性、采用率、实施情况、维持情况）框架的支持下设计完成。
加拿大魁北克省萨格奈-圣让湖区的两家初级保健诊所将参与其中。将为医护人员提供关于MODY2和基因检测的异步在线培训，包括培训前后的问卷。在整个项目过程中，将收集每个诊所的满意度、采用率和维持情况指标。将对患者和专业人员进行问卷调查，并与医护人员开展焦点小组讨论，以评估实施情况。本研究将通过识别促进因素和限制因素来记录初级保健中基因检测的实施过程，从而为扩大规模制定规范。
本方案已于2024年1月9日获得“C（CIUSSS-SLSJ）”研究伦理委员会批准，并于2024年1月30日获得加拿大魁北克省“C”（CCER）批准。将口头获取参与者的知情同意书。研究结果的传播将包括同行评审出版物、在主要国家和国际科学会议上的报告。
