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

AANEM Professional Practice Committee

Research output: Contribution to journalComment/debatepeer-review

5 Scopus citations

Abstract

Introduction: 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.

Original languageEnglish (US)
Pages (from-to)1007-1009
Number of pages3
JournalMuscle and Nerve
Volume54
Issue number6
DOIs
StatePublished - Dec 1 2016

Keywords

  • AANEM
  • NM
  • genetic testing
  • neuromuscular
  • neuromuscular disease
  • neuromuscular medicine

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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