Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/120596
Type: Journal article
Title: Genetic testing in endocrinology
Author: De Sousa, S.
Hardy, T.
Scott, H.
Torpy, D.
Citation: Clinical Biochemist Reviews, 2018; 39(1):17-28
Publisher: PubMed Central; National Center for Biotechnology Information, U.S. National Library of Medicine
Issue Date: 2018
ISSN: 0159-8090
1838-0212
Statement of
Responsibility: 
Sunita MC De Sousa, Tristan SE Hardy, Hamish S Scott, David J Torpy
Abstract: The recent genomic revolution, characterised by surges in the number of available genetic tests and known genetic associations, calls for improved genetic literacy amongst medical scientists and clinicians. This has been driven by next generation sequencing, a technology allowing multiple genes to be sequenced in parallel, thereby reducing the time and financial costs associated with genetic testing in both research and clinical settings. Endocrinology is an intuitive setting in which to consider the principles of genetic testing because endocrine disorders are due to defects in circumscribed pathways, providing clues to candidate genes. This article discusses genetic testing in contemporary endocrine practice with reference to examples of endocrine genetic disorders or multisystem genetic disorders with endocrine manifestations. Monogenic disorders are prioritised as these form the bulk of endocrine genetic disorders and the associated genetic testing is readily understandable, clinically available and practice-changing. Although it remains true that genetic testing should be embarked upon only if the result will alter management, the clinical utility of genetic testing is often underestimated and there are expanding indications for genetic testing across all areas of endocrinology.
Rights: © 2005 The Australasian Association of Clinical Biochemists Inc. No literary matter in The Clinical Biochemist – Reviews is to be reproduced, stored in a retrieval system or transmitted in any form by electronic or mechanical means, photocopying or recording, without permission. Requests to do so should be addressed to the Editor
RMID: 0030099526
Appears in Collections:Medicine publications

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