Genetic and Pathological Testing Attitudes for Parkinson's Disease in At-Risk Relatives

Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α-synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals. As preventive strategies remain unavailable, it is important to understand at-risk individuals' attitudes toward disclosure of genetic and biomarker information.

To examine awareness, emotional responses, and behavioral intentions among first-degree relatives of PD patients who underwent genetic testing and counseling.

A cross-sectional questionnaire was administered to first-degree relatives tested and counseled at Tel Aviv Sourasky Medical Center. The survey assessed recall of testing and results, adequacy of information, emotional reactions, willingness to undergo biological testing (blood vs. lumbar puncture), and readiness to modify lifestyle following positive biomarker results.

Among 240 non-manifesting relatives (NMNC = 145; LRRK2 = 40; GBA1 = 49; dual = 6; 72% response), the mean interval from testing to survey was 5.3 ± 2.4 years. Despite prior counseling, only 70.3% recalled being tested and 66.5% remembered results. About half felt adequately informed about PD (50.9%) and their genetic status (53.7%). Willingness for blood testing was high (86.6%) but lower for lumbar puncture (41.5%). Mutation carriers reported greater distress, while 87.6% indicated readiness to adopt lifestyle changes if results were positive.

First-degree relatives favored minimally invasive testing and showed strong motivation for lifestyle adaptation. Limited recall of results highlights the need for improved communication and ongoing counseling in preventive neurology.