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

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.