Objective: To determine interest in genetic testing among Parkinson’s disease (PD) patients with deep brain stimulation (DBS).

Background: Nearly 27% of patients with early-onset PD carry a mutation in one of three genes: glucocerebrosidase (GBA), leucine-rich repeat kinase 2 (LRRK2), and parkin (PRKN). Phenotypes which are unique to each mutation may inform disease progression, which patients may benefit from or develop side effects due to DBS, and which surgical targets may be optimal. As it becomes more accessible, it is important to understand whether or not patients would opt for genetic testing, and what factors may predict or influence their decisions.

Methods: A Genetic Attitude Questionnaire (GAQ) was administered at Rush Medical Center to non-demented PD patients with DBS who were unaware of their mutation status. Fifty-eight subjects had genetic testing for GBA, LRRK2, and PRKN and were unaware of their genetic mutation status. All subjects completed the GAQ, indicating their genetic knowledge, desire for testing, and reasons why they would or would not want testing. Interest in genetic testing was dichotomized – subjects who were definitely or probably interested in testing were considered one group, and subjects who definitely or probably did not want testing were a second group. A third group of patients were undecided. Models were adjusted for age, disease duration, family history, UPDRS-III score, and mutation status.

Results: Average age of patients was 63.22 ± 8.39 and 74.1% were men. Approximately 26% reported a family history of PD. Of these, 53% believed PD is hereditary, 13% believed it is not hereditary, and 33% were unsure. At the present time, twelve subjects (20.7%) definitely wanted genetic testing, fifteen (25.9%) probably wanted genetic testing, eight (13.8%) definitely did not want genetic testing, three (5.2%) probably didn’t want genetic testing, and twenty (34.5%) were undecided. Though there was a trend toward higher UPDRS-III scores and desire to obtain genetic testing, this did not reach statistical significance. Fifty-seven percent of subjects would want genetic testing to determine if they would benefit from surgical intervention.

Conclusions: PD patients are interested in genetic testing, and are more likely to obtain genetic testing if results could predict response to surgical treatment.  Further studies are needed to understand the factors that influence a patient’s desire for genetic testing.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/interest-in-genetic-testing-in-parkinsons-disease-patients-with-dbs/