October 25, 2023
By Lisa Letourneau-Freiberg, MPH, RD, LDN, Research Director, University of Chicago, Chicago, IL
Originating research: https://pubmed.ncbi.nlm.nih.gov/36681871/
Maturity-onset diabetes of the young (MODY) is a subtype of monogenic diabetes. These are single genetic changes that result in the development of high blood sugars. They are different than type 1 (T1D) and type 2 diabetes (T2D). While less common than T1D and T2D, it is critical to identify if your patient has monogenic diabetes. A confirmed genetic diagnosis of monogenic diabetes will guide the best treatment options, future testing for related medical conditions, and information on the probability of passing this genetic condition on to any children the patient may have. The University of Chicago Monogenic Diabetes Research Program has been operational for over a decade, and their Registry study follows over 1,000 participants with monogenic diabetes to learn more about these conditions.
In this study, authors from the UChicago Monogenic Diabetes Registry interviewed adult participants to better understand challenges they have experienced in obtaining an accurate diagnosis of monogenic diabetes and sharing that diagnosis with healthcare providers and family members.
Of the 20 participants interviewed, 19 were misclassified as having another form of diabetes prior to receiving their correct diagnosis of monogenic diabetes. The most common challenge participants faced was healthcare providers (both primary care and specialty endocrinology care) not recognizing MODY and not understanding its clinical relevance. One participant noted her healthcare provider “…just blew it off and didn’t have any interest in thinking outside of the box.” Participants were eager to obtain targeted information for their type of monogenic diabetes and connect with other people who have the same condition. All participants interviewed had shared their diagnosis of monogenic diabetes with at least one relative, but many of those family members were resistant to learn more about these conditions, share the information with their own healthcare providers, or be tested themselves.
Recommendations for providers:
- Be sure you are well informed on monogenic diabetes so you can identify it in your practice. There are many resources available online. UChicago has a free online continuing education (CE) course on monogenic diabetes (linked below) as well as ongoing monthly Office Hours sessions that include CE (linked below).
- If you have a patient who you think might have monogenic diabetes, help them obtain clinical genetic testing. If they are uninsured or their insurance won’t cover testing, research-based testing may be available through groups such as the UChicago Monogenic Diabetes Research Program (linked below). Self-pay testing may also be an option.
- If you have a patient with a confirmed genetic diagnosis of monogenic diabetes, be ready to act! Treatment changes may be recommended. Expect that your patient will want targeted information about this condition. If you have questions, reach out to expert groups for assistance.