The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

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Authors
De Franco, E.
Flanagan, Sarah
Houghton, J. A. L.
Lango Allen, H.
Mackay, D. J. G.
Temple, I. K.
Ellard, Sian
Hattersley, Andrew T.
Journal
Lancet
Type
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Publisher
Elsevier
Rights
Archived with thanks to Lancet (London, England)
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.
Citation
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. 2015, 386 (9997):957-63 Lancet
Note
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