To test, or not to test: time for a MODY calculator?
- P. R. NjølstadAffiliated withDepartment of Clinical Medicine, University of BergenDepartment of Pediatrics, Haukeland University Hospital Email author
- , A. MolvenAffiliated withThe Gade Institute, University of BergenDepartment of Pathology, Haukeland University Hospital
To test, or not to test, that is often the question in diabetes genetics. This is why the paper of Shields et al in the current issue of Diabetologia is so warmly welcomed. MODY is the most common form of monogenic diabetes. Nevertheless, the optimal way of identifying MODY families still poses a challenge both for researchers and clinicians. Hattersley’s group in Exeter, UK, have developed an easy-to-use MODY prediction model that can help to identify cases appropriate for genetic testing. By answering eight simple questions on the internet (www.diabetesgenes.org/content/mody-probability-calculator), the doctor receives a positive predictive value in return: the probability that the patient has MODY. Thus, the classical binary (yes/no) assessment provided by clinical diagnostic criteria has been substituted by a more rational, quantitative estimate. The model appears to discriminate well between MODY and type 1 and type 2 diabetes when diabetes is diagnosed before the age of 35 years. However, the performance of the MODY probability calculator should now be validated in other settings than where it was developed—and, as always, there is room for some improvements and modifications.
KeywordsDiabetes Genetic testing MODY Monogenic diabetes Prediction model
- To test, or not to test: time for a MODY calculator?
Volume 55, Issue 5 , pp 1231-1234
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- Genetic testing
- Monogenic diabetes
- Prediction model
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- Author Affiliations
- 1. Department of Clinical Medicine, University of Bergen, Bergen, Norway
- 2. Department of Pediatrics, Haukeland University Hospital, N-5021, Bergen, Norway
- 3. The Gade Institute, University of Bergen, Bergen, Norway
- 4. Department of Pathology, Haukeland University Hospital, Bergen, Norway