A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members

Aims Genetic testing for maturity‐onset diabetes of the young (MODY) facilitates a correct diagnosis, enabling treatment optimization and allowing monitoring of asymptomatic family members. To date, the majority of people with MODY remain undiagnosed. To identify patients' needs and areas for improving care, this study explores the experiences of patients and family members who have been genetically tested for MODY. Methods Fourteen semi‐structured interviews with patients and the parents of patients, and symptomatic and asymptomatic family members were conducted. Atlas.ti was used for thematic analysis. Results Most people with MODY were initially misdiagnosed with Type 1 or Type 2 diabetes; they had been seeking for the correct diagnosis for a long time. Reasons for having a genetic test included reassurance, removing the uncertainty of developing diabetes (in asymptomatic family members) and informing relatives. Reasons against testing were the fear of genetic discrimination and not having symptoms. Often a positive genetic test result did not come as a surprise. Both patients and family members were satisfied with the decision to get tested because it enabled them to adjust their lifestyle and treatment accordingly. All participants experienced a lack of knowledge of MODY among healthcare professionals, in their social environment and in patient organizations. Additionally, problems with the reimbursement of medical expenses were reported. Conclusions Patients and family members are generally positive about genetic testing for MODY. More education of healthcare professionals and attention on the part of diabetes organizations is needed to increase awareness and optimize care and support for people with MODY. What's new? This study shows the positive experiences of, and satisfaction with, genetic testing for maturity‐onset diabetes of the young (MODY) among people with MODY and their family members. The findings highlight the importance of knowledge and awareness of MODY among healthcare professionals and patient organizations, enabling an earlier diagnosis and making people with MODY feel recognized. Results suggest that more education of healthcare professionals and information provision to patients is needed to optimize care for people with MODY.