Genetic testing in endocrinology

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.