Telegenetics: Case Report of Duchenne Muscular Dystrophy and Review of the Literature

Abstract

There are few published case reports where telehealth was used for inpatient genetic consultations as well as to disclose a rare genetic condition that might come from a hospital inpatient workup after a patient has been sent home. Here we discuss a female patient with X-linked muscular dystrophy (Duchenne), thought classically to impact 1/3,500–1/5,000 males. In this report, the patient was discharged from her second hospital stay for muscle breakdown (rhabdomyolysis). Genetic test results came back a week after discharge. In this case report, we discuss how a telehealth visit was used to overview the results and review literature on telehealth and genetic diagnoses in non-cancer patients. Even before the COVID-19 pandemic, telegenetics—genetic risk assessment and counseling remotely using telephones or video communication was an option, giving patients access to genetic testing without traveling a long distance. This availability was important, as many geneticists are employed at academic centers in cities. Numerous studies have focused on how this medium can be convenient and cost-effective and help to mediate care for patients with cancer, where guidelines such as the National Comprehensive Cancer Network® clearly guide who should have testing and algorithmic steps that optimize cancer screening and care for patients with a high-risk pathogenic variant (colloquially known as a mutation). However, less has been published about telegenetics for non-cancer genetics encounters. 

For non-academic hospitals, which might not have a geneticist on staff, inpatient consultations might not be feasible for patients who undergo diagnostic odysseys with extensive testing. The model for genetics professionals has historically been that they work at academic centers where they might offer in-person consultations to determine at the most cellular level if there is a mutation that explains a patient’s physical symptoms after other imaging and lab work has been exhausted with no diagnostic answer.