Title |
The utility of genetic testing in neuromuscular disease: A consensus statement from the AANEM on the clinical utility of genetic testing in diagnosis of neuromuscular disease
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Published in |
Muscle & Nerve, November 2016
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DOI | 10.1002/mus.25387 |
Pubmed ID | |
Authors |
Charles D. Kassardjian, Anthony A. Amato, Andrea J. Boon, Martin K. Childers, Christopher J. Klein, AANEM Professional Practice Committee |
Abstract |
The aim of this consensus statement is to provide a recommendation from experts at the AANEM on the clinical utility of genetic testing. It is not meant to recommend or endorse any specific genetic testing methodology or algorithm. The AANEM Professional Practice Committee reached a consensus based on expert opinion on the utility of genetic testing in neuromuscular diseases and made recommendations on factors that physicians and patients should consider when deciding whether to proceed with such testing. Despite the costs of genetic testing, these tests can be both valuable and beneficial in the diagnosis and treatment of neuromuscular diseases in many situations. Summary/Discussion: AANEM believes that genetic testing and arriving at a specific molecular diagnosis is a critical step in providing high quality care to neuromuscular patients. The cost of testing should not be a deterrent, since there are important clinical, safety, psychosocial, and research benefits. This article is protected by copyright. All rights reserved. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 2 | 25% |
Italy | 1 | 13% |
United Kingdom | 1 | 13% |
Unknown | 4 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 5 | 63% |
Scientists | 2 | 25% |
Science communicators (journalists, bloggers, editors) | 1 | 13% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 20 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Postgraduate | 4 | 20% |
Other | 3 | 15% |
Researcher | 3 | 15% |
Student > Ph. D. Student | 3 | 15% |
Student > Bachelor | 1 | 5% |
Other | 3 | 15% |
Unknown | 3 | 15% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 7 | 35% |
Neuroscience | 3 | 15% |
Engineering | 2 | 10% |
Physics and Astronomy | 1 | 5% |
Biochemistry, Genetics and Molecular Biology | 1 | 5% |
Other | 2 | 10% |
Unknown | 4 | 20% |