Genetic Testing in Parkinson's Disease

• Published in: Movement disorders Vol. 38; no. 8; pp. 1384 - 1396
• Main Authors: Pal, Gian, Cook, Lola, Schulze, Jeanine, Verbrugge, Jennifer, Alcalay, Roy N., Merello, Marcelo, Sue, Carolyn M., Bardien, Soraya, Bonifati, Vincenzo, Chung, Sun Ju, Foroud, Tatiana, Gatto, Emilia, Hall, Anne, Hattori, Nobutaka, Lynch, Tim, Marder, Karen, Mascalzoni, Deborah, Novaković, Ivana, Thaler, Avner, Raymond, Deborah, Salari, Mehri, Shalash, Ali, Suchowersky, Oksana, Mencacci, Niccolò E., Simuni, Tanya, Saunders‐Pullman, Rachel, Klein, Christine
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.08.2023; Wiley Subscription Services, Inc
• Subjects: attitudes; Clinical trials; Gap & Controversy; genetic counseling; Genetic screening; Genetic Testing; Humans; Movement disorders; Neurodegenerative diseases; Parkinson Disease - diagnosis; Parkinson Disease - genetics; Parkinson's disease; Socioeconomic factors; genetic counseling; Parkinson's disease; attitudes; genetic testing
• ISSN: 0885-3185; 1531-8257; 1531-8257
• DOI: 10.1002/mds.29500

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. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.