The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
Author
De Franco, E.
Flanagan, Sarah
Houghton, J. A. L.
Lango Allen, H.
Mackay, D. J. G.
Temple, I. K.
Ellard, Sian
Hattersley, Andrew T.
Date
2015-09-05Journal
LancetType
Journal ArticleMulticenter Study
Research Support, Non-U.S. Gov't
Publisher
ElsevierDOI
10.1016/S0140-6736(15)60098-8Rights
Archived with thanks to Lancet (London, England)Metadata
Show full item recordAbstract
Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic control on sulfonylurea treatment for most patients with potassium channel mutations. We investigated the effect of early, comprehensive testing of all known genetic causes of neonatal diabetes.