AANEM has developed a position statement
regarding the utility of genetic testing in neuromuscular (NM) disease. This position statement was prompted by inquiries from members and insurance providers regarding whether genetic testing for NM diseases is valuable and beneficial in light of the costs of testing.
The aim of this position statement is to provide a recommendation from experts at the AANEM on the clinical utility of genetic testing, and is not meant to recommend or endorse any specific genetic testing methodology or algorithm. Many resources exist for physicians to help guide appropriate genetic testing in NM diseases. There remains a role for single gene testing in cases with characteristic phenotypes, in addition to larger gene panels or other techniques like whole exome sequencing. Features to consider when deciding on genetic testing include the pattern of inheritance, pattern of weakness, associated clinical features or electrophysiological and pathological findings. Genetic testing is now readily available for many NM diseases, and should not be considered an unusual test only for research purposes. Testing should be ordered from accredited laboratories, such as those that have received Clinical Laboratory Improvement Amendments (CLIA) certification in the United States.
It is the position of the AANEM that genetic testing plays a vital role in the diagnosis, appropriate investigation, and monitoring of NM for several reasons including that they can 1) be cost effective by avoiding potential harm, 2) help with disease management, 3) improve the psychological impact on patients and family members by confirming the diagnosis, 4) assist with family planning, and 5) allow patients to participate in clinical trials and registries.