The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.

Murphy, Rinki; Colclough, Kevin; Pollin, Toni I; Ikle, Jennifer M; Svalastoga, Pernille; Maloney, Kristin A; Saint-Martin, Cécile; Molnes, Janne; Misra, Shivani; Aukrust, Ingvild; de Franco, Elisa; Flanagan, Sarah E; Njølstad, Pål R; Billings, Liana K; Owen, Katharine R; Gloyn, Anna L

Murphy, Rinki; Colclough, Kevin; Pollin, Toni I; Ikle, Jennifer M; Svalastoga, Pernille; Maloney, Kristin A; Saint-Martin, Cécile; Molnes, Janne; Misra, Shivani; Aukrust, Ingvild; de Franco, Elisa; Flanagan, Sarah E; Njølstad, Pål R; Billings, Liana K; Owen, Katharine R; Gloyn, Anna L.

Afiliação

Murphy R; Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. R.murphy@auckland.ac.nz.
Colclough K; Auckland Diabetes Centre, Te Whatu Ora Health New Zealand, Te Tokai Tumai, Auckland, New Zealand. R.murphy@auckland.ac.nz.
Pollin TI; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
Ikle JM; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Svalastoga P; Department of Pediatrics, Division of Endocrinology & Diabetes, Stanford School of Medicine, Stanford, CA, USA.
Maloney KA; Stanford Diabetes Research Center, Stanford School of Medicine, Stanford, CA, USA.
Saint-Martin C; Children and Youth Clinic, Haukeland University Hospital, Bergen, Norway.
Molnes J; Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.
Misra S; Department of Medical Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
Aukrust I; Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.
de Franco E; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Njølstad PR; Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.
Billings LK; Department of Diabetes and Endocrinology, Imperial College Healthcare NHS Trust, London, UK.
Owen KR; Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.
Gloyn AL; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

Commun Med (Lond) ; 3(1): 136, 2023 Oct 05.

Article em En | MEDLINE | ID: mdl-37794142

Some diabetes types, called monogenic diabetes, are caused by changes in a single gene. It is important to know who has this kind of diabetes because treatment can differ from that of other types of diabetes. Some treatments also work better than others for specific types, and some people can for example change from insulin injections to tablets. In addition, relatives can be offered a test to see if they are at risk. Genetic testing is needed to diagnose monogenic diabetes but is expensive, so it's not possible to test every person with diabetes for it. We evaluated published research on who should be tested and what test to use. Based on this, we provide recommendations for doctors and health care providers on how to implement genetic testing for monogenic diabetes.

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Systematic_reviews Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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