Telehealth genetic services during the COVID-19 Pandemic: Implementation and patient experiences across multiple specialties in Nebraska.

The COVID-19 pandemic has altered the delivery of genetics services. In response to the pandemic, our genetics department offered telehealth visits to all outpatients, regardless of their physical proximity to Omaha, Nebraska. Traditionally, our department did not offer telehealth visits to patient's homes or to patients who lived in close proximity to a genetics clinic. Therefore, we designed a survey to gain insight into the patient experience with remote genetic counseling appointments during the pandemic. Any patient referred to see a genetics provider in pediatrics, prenatal, adult, or cancer between March 16, 2020 and October 28, 2020 was eligible for the study. The survey included both quantitative and qualitative measures to assess patient demographics, patient experience, stressors during the COVID-19 pandemic, and anxiety and depression. We hypothesized that patients would report they received quality care by telehealth despite the presence of COVID-19-related stressors or anxiety/depression. From the 143 survey participants, 80% had their first telehealth appointment during the pandemic. The vast majority (96%) reported that they felt like they received quality care by telehealth. Additionally, more than 93% of participants strongly or somewhat agreed that their genetic providers were attentive to their emotional needs, medical needs, and privacy. Since March 2020, participants reported experiencing several COVID-19-related stressors including fear of illness (86%), feelings of isolation (45%), and safety concerns (33%). Relatively low levels of depressive and anxiety symptoms were recorded using the HADS questionnaire. Despite the prevalence of COVID-19 stressors, depression, and/or anxiety, our participants felt they received quality care via telehealth. In fact, 51% agree that they prefer to receive future genetics services virtually. These results suggest the value of telehealth as an alternative service delivery model, even for local patients, and should be offered for future appointments, beyond the COVID-19 pandemic.

5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.

Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, absent speech, seizures, and brain anomalies. Here we report a patient who is haploinsufficient in both RASA1 and MEF2C who presents with dermatologic and neurologic abnormalities that constitute a 5q14.3 neurocutaneous syndrome. This finding highlights the need to assess for CM-AVM in patients with neurologic features consistent with MEF2C haploinsufficiency, and vice versa.