Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

A.M. van der Zwaag, S.S. Weinreich, A.R. Bosma, T. Rigter, M. Losekoot, L. Henneman, M.C. Cornel

    Research output: Contribution to JournalArticleAcademicpeer-review


    Aims: Currently, many patients with maturity onset diabetes of the young (MODY) are undiagnosed or misdiagnosed with type 1 or 2 diabetes. This study aims to assess professional experts' views on factors which may influence the current practice of genetic testing for MODY and to explore next steps toward best practice. Methods: Twelve semistructured interviews were conducted with professional experts. These experts included physicians with potential or actual experience with genetic testing for MODY, representatives of (para)medical professional associations and a staff member of a diabetes patients' organization. Results: Participants differed in their valuation of genetic testing for MODY. While most considered the test useful, not all were convinced of its clinical utility. Other factors mentioned to influence current practice were: (perceived lack of) possibilities for treatment and prevention, patients' perspectives and perceived barriers, such as costs and a lack of knowledge and awareness. Participants agreed that guidelines would be helpful to facilitate expedient testing. Conclusions: This study identified next steps that should be taken to improve genetic diagnosis and care for patients with MODY. Besides the development of a consensus guideline, other suggestions included more education of healthcare professionals, a clearer allocation of responsibilities with regard to genetic testing for MODY and further research.
    Original languageEnglish
    Pages (from-to)52-59
    JournalPublic Health Genomics
    Issue number1
    Publication statusPublished - 2015


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