Primary care implementation of a genotyping test for MODY2 diabetes screening
principal Investigators
Marie-Eve Poitras,
Karine Tremblay,
Samuel Legeay
Funding
$ 50,000
Diabète Québec, Diabète Saguenay—Lac Saint Jean and Programme de soutien au développement de la mission universitaire
Study setting
Hôpital of Chicoutimi (endocrinology, molecular biology and genetics departments),
GMF-U de Chicoutimi
Themes
Primary care, implementation, sciences, monogenic diabetes,
genotyping
Statistics
since the launch of the study
Participants
76
15
Positive
(including 4 pregnant women)
12
Men
64
Women
37
Average age
Why?
MODY2 diabetes is a genetic disease only diagnosed during genetic consultation. MODY2 diabetes causes mild hyperglycemia but no long-term cardiovascular complications in patients. As a result, patients with MODY2 diabetes do not require medication to manage their diabetes.
MODY2 diabetes can be confused with type 1 or type 2 diabetes. This confusion can lead these patients to take medication when they don't need to.
What are our goals?
The iMOgene project aims to evaluate the availability of a MODY2 diabetes screening test for family physicians and endocrinologists. Family doctors and endocrinologists can then offer this test to patients suspected of having MODY2 diabetes.
MODY2 diabetes is a genetic disease can be confused with type 1 or type 2 diabetes. This confusion can lead these patients to take medication when they don't need to.
How will it work?
We will train participating physicians using online video capsules to diagnose MODY2 diabetes, collect a sample for genotyping, offer the iMOgene study to patients and communicate the test result to them. Once trained, physicians can offer screening tests to patients suspected of having MODY2 diabetes. The analysis will conform to the RE-AIM method, enabling us to identify limiting and favourable factors for implementing genetic screening tests in primary care.
We will evaluate the training to measure the impact of the activity on the change in practice of the participating physicians. To do this, they will complete a brief questionnaire before and after the training. Group interviews with participating healthcare professionals are also planned at the end of the study.
Patients will also be asked to complete a questionnaire.
The number of diagnoses and tests ordered to diagnose this type of diabetes will be measured. We will also evaluate the implementation of this innovation by collecting various data from the research team's observations and discussions with participants and collaborators, again using the RE-AIM framework. In this way, we will identify the factors limiting and facilitating the implementation of the MODY2 diabetes screening test. This will enable the research team to draw up specifications for the province-wide implementation of this test.
What results are we aiming for?
At the end of this project, we hope to see an increase in the number of patients diagnosed with MODY2 in the Saguenay-Lac Saint Jean region compared with previous years. Indeed, the iMOgene project will enable certain patients to benefit from a rapid, low-cost genotyping test to help diagnose MODY2 diabetes. For patients diagnosed with MODY2, discontinuation of their anti-diabetic treatment can be discussed with their doctor, with beneficial consequences for their employability and insurability.
The iMOgene project will also shorten the time needed to diagnose MODY2 diabetes, reducing the waiting time for a consultation with an endocrinologist or genetic counsellor.
See the infographics (french).
The Caf'Échange: a privileged meeting with MODY2 patients
On April 25, 2024, members of the research team met with patients living with or being diagnosed with MODY2 diabetes to discuss their trajectories and experiences during suspicion, diagnosis, and management of their condition.
This two-hour meeting was immensely enriching for both patients and researchers. It confirmed the relevance of the iMOgene study and highlighted the importance of access to genetic testing and the need for a standardized diagnostic pathway.
Contact us!
Contact the research team for more information!
E-mail
imogene@usherbrooke.ca
Phone
418-541-5050 ext. 203681
This project was made possible thanks to the collaboration of
