Genetic testing for Parkinson's disease in an underrepresented population: Knowledge, attitudes, and ethical considerations from a Malaysian perspective

Abstract

Parkinson's disease (PD), an increasingly prevalent neurodegenerative disease worldwide, has been the focus of extensive genetics research in recent years. Genetic testing has emerged as a promising tool for early diagnosis, prognostication, and stratification of patients for potential disease-modifying therapies. However, implementing genetic testing in clinical practice presents unique considerations that warrant exploration. This is especially important in low- and middle-income countries (LMICs) like Malaysia, where the availability of testing is increasing but low genetic literacy and practical challenges complicate matters. This qualitative study explored the knowledge, attitudes, and perceptions of PD patients and caregivers regarding genetic testing, alongside issues faced by Malaysian healthcare professionals when considering genetic testing for patients. In-depth interviews were conducted with 20 patients, 20 caregivers, and 16 healthcare professionals, and data were analyzed using reflexive thematic analysis. Analysis revealed limited PD genetic literacy among patients and caregivers concerning the genetic role in PD, highlighting knowledge gaps regarding PD-specific genes and testing availability. Misconceptions surrounding PD causation and perceived limited utility of testing were prevalent. Expectations encompassed the role of testing in diagnosis, management, and prevention, while concerns centered around genetic information confidentiality, family implications, and affordability. Despite this, there was a considerable interest in genetic testing and counseling. Healthcare professionals highlighted concerns including proper disclosure of findings, the importance of genetic counseling, its broader implications for patients and their families, the risk of genetic discrimination, and practical barriers to testing. This study highlights the critical need for tailored genetic education for patients and families, providing a foundation for the development of locally relevant materials to improve PD genetic literacy and support decision-making. As genetic testing becomes integrated into clinical practice, expanding training programs for healthcare professionals, implementing genetic protection policies, and increasing accessibility is crucial to ensure equitable access to testing and counseling in Malaysia and other underrepresented regions.