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Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
Published on: January 7, 2014
Genetic and Pathological Testing Attitudes for Parkinson's Disease in At-Risk Relatives
Tal Weil1, Anat Mirelman1,2,3,4, Roy N Alcalay1,2,3,5,6
1Gray Faculty of Medical & Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.
Movement Disorders Clinical Practice
|January 19, 2026
Summary
First-degree relatives of Parkinson's disease (PD) patients show high willingness for lifestyle changes, but recall of genetic testing results is limited. Improved communication and ongoing counseling are crucial for preventive neurology strategies.
Area of Science:
- Neuroscience
- Genetics
- Preventive Medicine
Background:
- Parkinson's disease (PD) is a neurodegenerative disorder with evolving diagnostic biomarkers.
- Genetic testing and α-synuclein seed amplification assays (SAA) enable early PD detection, even in asymptomatic individuals.
- Preventive strategies for PD are lacking, necessitating understanding of at-risk individuals' attitudes toward genetic and biomarker information disclosure.
Purpose of the Study:
- To investigate awareness, emotional responses, and behavioral intentions among first-degree relatives of PD patients who underwent genetic testing and counseling.
- To assess relatives' recall of testing and results, perceived information adequacy, and emotional reactions.
- To evaluate willingness for different biological testing methods and readiness for lifestyle modifications based on biomarker results.
Main Methods:
- A cross-sectional questionnaire was administered to 240 first-degree relatives of PD patients who received genetic testing and counseling.
- The survey assessed recall of testing and results, information adequacy, emotional responses, and willingness for blood versus lumbar puncture testing.
- Participants' readiness to modify lifestyle following positive biomarker results was also evaluated.
Main Results:
- Despite counseling, only 70.3% recalled testing and 66.5% remembered results; about half felt adequately informed about PD and their genetic status.
- Willingness for blood testing was high (86.6%), contrasting with lower willingness for lumbar puncture (41.5%).
- Mutation carriers reported greater distress, yet 87.6% expressed readiness to adopt lifestyle changes if results were positive.
Conclusions:
- First-degree relatives prefer minimally invasive testing methods and demonstrate strong motivation for lifestyle adaptation.
- Limited recall of genetic testing results underscores the need for enhanced communication and continuous counseling in preventive neurology.
- These findings are vital for developing effective support systems and interventions for individuals at risk of Parkinson's disease.
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