Randomized Trial of Telegenetic Counseling for Gene Testing in Huntington Disease.

Abstract

Background and objectives: The purpose of the study was to determine the feasibility and patient satisfaction of telegenetic counseling, or counseling done by video, for Huntington disease (HD). Background: Genetic counseling is necessary for presymptomatic or symptomatic HD genetic testing, but the lack of access to counseling because of geography or expense is a critical gap for many patients. The hypothesis of this study was that there would be no difference in patient satisfaction between telegenetic counseling (tele-GC) or in-person counseling (in-person GC) for HD testing.

Methods: This was a prospective, randomized, unblinded study of either tele-GC or in-person GC for HD gene testing. Participants had standardized genetic counseling in the clinic or through a Health Insurance Portability and Accountability Act (HIPAA) appropriate telemedicine platform first and then crossed over. A study coordinator interviewed the participant using a telehealth survey after each encounter.

Results: A total of 19 in-person GC and 15 tele-GC participants were included: 68% women, 41 ± 15 years, 80% White, 10% Hispanic, and +CAG repeat length = 45 ± 4.4 (n = 15) (p > 0.1). All participants were satisfied with their initial counseling experience when asked to rate on a scale of 1-10 (median 10/10, p = 0.94). The majority of symptomatic HD participants (5/7) preferred in-person GC. The main advantage of tele-GC was reduction in travel time for both in-person GC first (n = 16) and tele-GC first (n = 11) participants. Technical challenges were encountered in many of the participants. Visually seeing the genetic counselor improved understanding for in-person GC (n = 10) and tele-GC (n = 8) participants. Participants felt they were able to pick up on emotional cues (n = 33) and felt comfortable asking questions (n = 34) using the tele-GC format.

Discussion: Telegenetic counseling is a feasible option for HD gene testing, if patients are able to overcome technical issues. Having a video visit with both audio and video components, rather than an audio-only phone call, should be considered when using telegenetic counseling for HD. Finally, in-person counseling may be preferred to increase understanding of the genetic counseling materials in patients, especially in motor manifest HD.