Abstract Details

Knowledge of one’s genetic status may have personal utility and implications for clinical care, including the potential for enrollment in gene-targeted clinical trials. Barriers to genetic testing include lack of genetic counseling for most commercial and direct-to-consumer testing options.

The purpose of the PD GENEration pilot study was to assess the feasibility, impact, and satisfaction of providing genetic testing and genetic counseling remotely and in-person to people with Parkinson’s disease (PD) in the U.S.

Participants were recruited at 6 study sites and underwent genetic testing of 7 PD-related genes (SNCA, PRKN, PINK1, PARK7, LRRK2, GBA and VPS35). Participants were randomized to receive results and genetic counseling in-person from their local site (clinician or genetic counselors) or remotely by genetic counselors at Indiana University.

Participants received follow-up surveys after results disclosure and genetic counseling. Satisfaction and knowledge were measured among participants, and the psychological impact of testing was assessed using the FACToR scale.

In total, 289 participants were enrolled between 9/5/19 and 3/14/20.  Pathogenic genetic variants were found in 17%. We did not observe differences in overall satisfaction and knowledge scores, satisfaction with the mode of genetic counseling delivery, or FACToR scores between in-person and remote arms. The majority of participants in both arms of the study were satisfied with genetic counseling; however, participants who received in-person genetic counseling felt more involved with their providers as “partners in care”. Most genetic counseling sessions lasted 15-30 minutes, with remote delivery and with variant-positive sessions averaging longer overall. Those who received positive and negative results were equally satisfied.

Both in-person and remote models for genetic testing are feasible, with high levels of satisfaction and no significant differences between arms. Additional data will be collected on other participant-reported outcomes. Based on these results, expanded enrollment is underway.