Acceptability of Telegenetics for Families with Genetic Eye Diseases

Abstract

Healthcare providers around the world have implemented remote routine consultations to minimise disruption during the COVID-19 pandemic. Virtual clinics are particularly suitable for patients with genetic eye diseases as they rely on detailed histories with genetic counselling. During April-June 2019, the opinion of carers of children with inherited eye disorders attending the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust (MEH) were canvassed. Sixty-five percent of families (n = 35/54) preferred to have investigations carried out locally rather than travel to MEH, with 64% opting for a virtual consultation to interpret the results. The most popular mode of remote contact was via telephone (14/31), with video call being least preferred (8/31). Hence, 54 families who had received a telephone consultation mid-pandemic (November 2020-January 2021) were contacted to re-evaluate the acceptability of telegenetics using the Clinical Genetics Satisfaction Indicator and Telemedicine Satisfaction Questionnaire. Overall, 50 carers participated (response rate 93%); 58% of participants found teleconsultations acceptable and 54% agreed they increased their access to care, but 67.5% preferred to be seen in person. Patient satisfaction was high with 90% strongly agreeing/agreeing they shared and received all necessary information. Ocular genetics is well-suited for remote service delivery, ideally alternated with face-to-face consultations.

Keywords: genetic eye disease; ophthalmology; rare disease; remote consultations; service delivery; telegenetics; telemedicine.

Figure 1

Proportion of patients attending new or follow up appointments and their ocular conditions. (a) Thirty-one patients were attending follow up appointments. (b) Survey participants were carers of children with the following conditions: Microphthalmia, anophthalmia and coloboma (MAC) were the most prevalent (14 patients), followed by childhood cataracts in 13, ocular and oculocutaneous albinism in 8, idiopathic infantile nystagmus in 7, retinal dystrophy in 4, anterior segment dysgenesis (ASD) in 3 and 1 child had optic atrophy.

Figure 2

Participants were asked to rate their agreement to statements modified from the Clinical Genetics Satisfaction (CGS) indicator and Telemedicine Satisfaction Questionnaire (TSQ) on a Likert scale (1 = strongly disagree, 2 = disagree, 3 = neutral, 4 = agree, 5 = strongly agree).