Molecular Genetic Testing in Endocrinology—A Practical Guide

To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation. The author's experience and review of appropriate literature have been used to gi...

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Bibliographic Details
Published in:Endocrine practice Vol. 18; no. 1; pp. 85 - 89
Main Author: Kirmani, Salman
Format: Journal Article
Language:English
Published: United States Elsevier Limited 01.01.2012
Subjects:
Diabetes Mellitus, Type 2 - complications
Endocrine System Diseases - diagnosis
Endocrine System Diseases - economics
Endocrine System Diseases - genetics
Endocrine System Diseases - psychology
Endocrinology - economics
Endocrinology - methods
Exons - genetics
Genetic Testing - economics
Genetic Testing - methods
Humans
Multiple Endocrine Neoplasia Type 1 - genetics
ISSN:1530-891X, 1934-2403, 1934-2403
Online Access:Get full text
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Summary:To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation. The author's experience and review of appropriate literature have been used to give a personal perspective on the role of genetic testing in hereditary endocrine disorders. Recent advances in our understanding of genetics and genomics have uncovered that they have a far more important role in the pathogenesis of endocrine disease than previously appreciated. Not only are we expanding our understanding of rare mendelian disorders such as multiple endocrine neoplasia type 1 and 2, but we are also beginning to understand the clinical significance of genetic factors in the pathogenesis of common disorders such as obesity and dyslipidemia. It can be difficult to appreciate the clinical significance and utility of genetic testing that is currently available, and the interpretation of genetic test results can be challenging. Decisions on whether genetic testing is needed should be made on a case-by-case basis, with the endocrinologist and geneticist working together from the outset.
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ISSN:1530-891X
1934-2403
1934-2403
DOI:10.4158/EP11364.RA