Genetic Testing in Parkinson's Disease

Gian Pal*, Lola Cook, Jeanine Schulze, Jennifer Verbrugge, Roy N. Alcalay, Marcelo Merello, Carolyn M. Sue, Soraya Bardien, Vincenzo Bonifati, Sun Ju Chung, Tatiana Foroud, Emilia Gatto, Anne Hall, Nobutaka Hattori, Tim Lynch, Karen Marder, Deborah Mascalzoni, Ivana Novaković, Avner Thaler, Deborah RaymondMehri Salari, Ali Shalash, Oksana Suchowersky, Niccolò E. Mencacci, Tanya Simuni, Rachel Saunders-Pullman, Christine Klein

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Genetic testing for persons with Parkinson's disease is becoming increasingly common. Significant gains have been made regarding genetic testing methods, and testing is becoming more readily available in clinical, research, and direct-to-consumer settings. Although the potential utility of clinical testing is expanding, there are currently no proven gene-targeted therapies, but clinical trials are underway. Furthermore, genetic testing practices vary widely, as do knowledge and attitudes of relevant stakeholders. The specter of testing mandates financial, ethical, and physician engagement, and there is a need for guidelines to help navigate the myriad of challenges. However, to develop guidelines, gaps and controversies need to be clearly identified and analyzed. To this end, we first reviewed recent literature and subsequently identified gaps and controversies, some of which were partially addressed in the literature, but many of which are not well delineated or researched. Key gaps and controversies include: (1) Is genetic testing appropriate in symptomatic and asymptomatic individuals without medical actionability? (2) How, if at all, should testing vary based on ethnicity? (3) What are the long-term outcomes of consumer- and research-based genetic testing in presymptomatic PD? (4) What resources are needed for clinical genetic testing, and how is this impacted by models of care and cost-benefit considerations? Addressing these issues will help facilitate the development of consensus and guidelines regarding the approach and access to genetic testing and counseling. This is also needed to guide a multidisciplinary approach that accounts for cultural, geographic, and socioeconomic factors in developing testing guidelines.

Original languageEnglish
Pages (from-to)1384-1396
Number of pages13
JournalMovement Disorders
Issue number8
StatePublished - Aug 2023


FundersFunder number
Bigglesworth Family Foundation
Department of Innovation, Research and Universities
Japan Society for the Promotion of Science, Japan Agency for Medical Research and Development
Medical Research Future Fund
Medical Research Futures Fund
Stichting Parkinson Fonds
National Institute of Neurological Disorders and StrokeP20NS123220, U01 NS107016, K23‐NS097625‐05
Michael J. Fox Foundation for Parkinson's Research
California Department of Fish and Game
International Parkinson and Movement Disorder Society
Parkinson's Foundation
Aligning Science Across Parkinson's
National Health and Medical Research Council
National Research Foundation129249
South African Medical Research Council
Deutsche ForschungsgemeinschaftFOR 2488
Japan Science and Technology Agency
Bundesministerium für Bildung und Forschung
Innovative Medicines Initiative


    • Parkinson's disease
    • attitudes
    • genetic counseling
    • genetic testing


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