The Genetic Testing Experience of Individuals with Parkinson's Disease

Background: The perspective and experiences of individuals with Parkinson's disease (PD) regarding genetic testing is limited.

Objectives: To determine if anticipated benefits and negative consequences of genetic testing noted in prior studies have occurred in a surveyed group of patients with PD and to identify reasons why some individuals with PD have not had testing.

Methods: Individuals were surveyed from 22 support/advocacy groups throughout the US. Information about patient demographics and genetic testing were assessed, along with the consequences experienced after testing or anticipated by those who have not had testing. Descriptive statistics, Pearson correlation coefficient, ANOVA, and independent sample t-test were utilized for data analysis.

Results: Of the genetic testing group (n = 78), most received testing through a research study (44.9%) or a Direct-to-Consumer company (46.2%). Most did not meet with a genetic counselor before (87.2%) or after testing (64.1%). Fewer positive and fewer negative consequences were reported after testing compared to the consequences anticipated by those who have not undergone testing (P < 0.001, all comparisons). Of the non-genetic testing group (n = 166), 49.4% did not undergo testing because they were not aware it was available and 38.0% because their doctor did not offer it.

Conclusions: Findings demonstrate the need for providers to have genetic testing discussions with PD patients, who may otherwise seek testing via Direct-to-Consumer companies or be unaware it is available. Collaborations with genetic counselors trained in providing anticipatory guidance may assist patients in forming more realistic expectations regarding the consequences experienced after genetic testing for PD.