The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics

Simple Summary There are many potential benefits of obtaining a genetic diagnosis for an adult diagnosed with a neuromuscular disorder. However, not all patients with neuromuscular disorders will be offered broad genetic testing to identify a genetic cause. Here, we use five case examples to illustrate why it is important for adult neuromuscular clinics to offer broad-based genetic testing to their patients. For each case example, we describe why broad genetic testing was better suited to detect the genetic cause of the condition, including a description of the genetic change identified and the resulting biological implication, as well as the clinical and personal outcomes of the genetic diagnosis for the patient. Our findings highlight the crucial role of broad genetic testing in the management of adults with neuromuscular disorders.Abstract Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of SORD-neuropathy, HADHB-related disease, ATXN2-ALS, MECP2 related progressive gait decline and spasticity, and DNMT1-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs.