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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
Author(s) -
Kassardjian Charles D.,
Amato Anthony A.,
Boon Andrea J.,
Childers Martin K.,
Klein Christopher J.
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25387
Subject(s) - neuromuscular disease , genetic testing , disease , medicine , statement (logic) , physical medicine and rehabilitation , pathology , political science , law
: The aim of this consensus statement is to provide a recommendation from AANEM experts on the clinical utility of genetic testing. It is not meant to recommend or endorse any specific genetic testing methodology or algorithm. Methods : 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. Results : 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. Conclusions : The AANEM believes that performing genetic testing to arrive 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, as there are important clinical, safety, psychosocial, and research benefits. Muscle Nerve 54 : 1007–1009, 2016