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Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.

ABSTRACT: Monogenic diabetes results from one or more mutations in a single gene which might hence be rare but has great impact leading to diabetes at a very young age. It has resulted in great challenges for researchers elucidating the aetiology of diabetes and related features in other organ systems, for clinicians specifying a diagnosis that leads to improved genetic counselling, predicting of clinical course and changes in treatment, and for patients to altered treatment that has lead to coming off insulin and injections with no alternative (Glucokinase mutations), insulin injections being replaced by tablets (e.g. low dose in HNFalpha or high dose in potassium channel defects -Kir6.2 and SUR1) or with tablets in addition to insulin (e.g. metformin in insulin resistant syndromes). Genetic testing requires guidance to test for what gene especially given limited resources. Monogenic diabetes should be considered in any diabetic patient who has features inconsistent with their current diagnosis (unspecified neonatal diabetes, type 1 or type 2 diabetes) and clinical features of a specific subtype of monogenic diabetes (neonatal diabetes, familial diabetes, mild hyperglycaemia, syndromes). Guidance is given by clinical and physiological features in patient and family and the likelihood of the proposed mutation altering clinical care. In this article, I aimed to provide insight in the genes and mutations involved in insulin synthesis, secretion, and resistance, and to provide guidance for genetic testing by showing the clinical and physiological features and tests for each specified diagnosis as well as the opportunities for treatment.

SUBMITTER: Slingerland AS

PROVIDER: S-EPMC1894829 | biostudies-other | 2006 Sep

REPOSITORIES: biostudies-other

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Project description:Maturity-onset diabetes of the young, or MODY-monogenic diabetes, is a not-so-rare collection of inherited disorders of non-autoimmune diabetes mellitus that remains insufficiently diagnosed despite increasing awareness. These cases are important to efficiently and accurately diagnose, given the clinical implications of syndromic features, cost-effective treatment regimen, and the potential impact on multiple family members. Proper recognition of the clinical manifestations, family history, and cost-effective lab and genetic testing provide the diagnosis. All patients must undergo a thorough history, physical examination, multigenerational family history, lab evaluation (glycated hemoglobin A1c [HbA1c], glutamic acid decarboxylase antibodies [GADA], islet antigen 2 antibodies [IA-2A], and zinc transporter 8 [ZnT8] antibodies). The presence of clinical features with 3 (or more) negative antibodies may be indicative of MODY-monogenic diabetes, and is followed by genetic testing. Molecular genetic testing should be performed before attempting specific treatments in most cases. Additional testing that is helpful in determining the risk of MODY-monogenic diabetes is the MODY clinical risk calculator (>25% post-test probability in patients not treated with insulin within 6 months of diagnosis should trigger genetic testing) and 2-hour postprandial (after largest meal of day) urinary C-peptide to creatinine ratio (with a ≥0.2 nmol/mmol to distinguish HNF1A- or 4A-MODY from type 1 diabetes). Treatment, as well as monitoring for microvascular and macrovascular complications, is determined by the specific variant that is identified. In addition to the diagnostic approach, this article will highlight recent therapeutic advancements when patients no longer respond to first-line therapy (historically sulfonylurea treatment in many variants).Learning objectivesUpon completion of this educational activity, participants should be able to.Target audienceThis continuing medical education activity should be of substantial interest to endocrinologists and all health care professionals who care for people with diabetes mellitus.

Project description:BackgroundThe poor translation of research findings into routine clinical practice is common in all areas of healthcare. Having a better understanding of how researchers and clinicians experience engagement in and with research, their working relationships and expectations of each other, may be one way to help to facilitate collaborative partnerships and therefore increase successful translation of research into clinical practice.AimsTo explore the views of clinical and research staff about their experiences of working together during research projects and identify the facilitators and barriers.MethodsWe conducted four focus groups with 18 participants - clinicians, researchers and those with a dual clinical-research role, recruited from one mental health Trust and one university. Data was analysed using thematic analysis.ResultsEight themes were identified under the headings of two research questions 1) Barriers and facilitators of either engaging in or with research from the perspective of clinical staff, with themes of understanding the benefits of the research; perceived knowledge and personal qualities of researchers; lack of time and organisational support to be involved in and implement research; and lack of feedback about progress and outcome of research. 2) Barriers and facilitators for engaging with clinicians when conducting research, from the perspective of researchers, with themes of understanding what clinicians need to know and how they need to feel to engage with research; demonstrating an understanding of the clinician's world; navigating through the clinical world; and demands of the researcher role.ConclusionThere was agreement between clinicians and researchers about the barriers and facilitators for engaging clinicians in research. Both groups identified that it was the researcher's responsibility to form and maintain good working relationships. Better support for researchers in their role calls for training in communication skills and bespoke training to understand the local context in which research is taking place.

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Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.

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