Introduction/Aims: It is unknown if patients with neuromuscular diseases prefer inperson or virtual telemedicine visits. We studied patient opinions and preference on virtual versus in-person visits, and the factors influencing such preferences.Methods: Telephone surveys, consisting of 11 questions, of patients from 10 neuromuscular centers were completed.Results: Five hundred and twenty surveys were completed. Twenty-six percent of respondents preferred virtual visits, while 50% preferred in-person visits. Sixty-four percent reported physical interaction as "very important." For receiving a new diagnosis, 55% preferred in-person vs 35% reporting no preference. Forty percent were concerned about a lack of physical examination vs 20% who were concerned about
Genetic testing is an effective and reliable modality in clinical neuromuscular diagnosis. The recent developments in testing methods and increasing reliance on genetic testing in clinical practice require more studies to examine the benefits and advantages of such tests. We examined the results of single-gene sequencing/repeat analysis, panels, and whole-genome sequencing (WES) of 514 tests of 393 patients. All patients were suspected of a neuromuscular disorder and the samples were either WBC or muscle tissue. 28.60% (n.147) of the tests were positive while 23.74% (n.122) were VUS. In single-gene sequencing/repeat analysis, 43.08% were positive, in panels, 23.17% were positive, while 30.00% were positive in WES. Our results showed consistency with current studies and improvement of the utility of genetic testing. Although some obstacles are identified, providing statistical data can support more usage and popularity of genetic testing among physicians and patients.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.