Abstract
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 language | English (US) |
|---|---|
| Pages (from-to) | 1384-1396 |
| Number of pages | 13 |
| Journal | Movement Disorders |
| Volume | 38 |
| Issue number | 8 |
| DOIs | |
| State | Published - Aug 2023 |
Funding
G.P. was supported by the National Institute of Neurological Disorders and Stroke Grant K23\u2010NS097625\u201005. S.B. was supported by the South African Medical Research Council (Self\u2010Initiated Research Grant) and the National Research Foundation of South Africa (Grant 129249). N.E.M. was supported by the Parkinson's Foundation and Aligning Science Across Parkinson's (ASAP; Global Parkinson's Genetics Program [GP2]). C.K. was supported by the DFG (FOR 2488), The Michael J. Fox Foundation, and ASAP (GP2). C.M.S. was supported by the National Health and Medical Research Council, Medical Research Future Fund, and the ASAP Collaborative Research Network. R.S.\u2010P. was supported by National Institute of Neurological Disorders and Stroke Grants U01 NS107016 (related, but no conflict) and P20NS123220 and the Bigglesworth Family Foundation. Funding agencies: Soraya Bardien\u2014Grants: South African Medical Research Council (Self\u2010Initiated Research Grant) and the National Research Foundation of South Africa (grant 129249). Nobutaka Hattori\u2014Stock ownership in medically related fields: PARKINSON Laboratories Co. Ltd (Equity stock (8%)). Consultancies: Sumitomo Pharma, Takeda Pharmaceutical, Kyowa Kirin, PARKINSON Laboratories Co., Ltd, and Teijin Pharma. Advisory Boards: Sumitomo Pharma, Takeda Pharmaceutical, Kyowa Kirin, Ono Pharmaceutical, and Teijin Pharma. Employment: Juntendo University and RIKEN Center for Brain Science. Honoraria: Sumitomo Pharma, Takeda Pharmaceutical, Kyowa Kirin, AbbVie GK, Otsuka Pharmaceutical, Novartis Pharma, Ono Pharmaceutical, Eisai, Teijin Pharma, Daiichi Sankyo Co. FP pharma. Grants: Japan Society for the Promotion of Science, Japan Agency for Medical Research and Development, Japan Science and Technology Agency, Health Labour Sciences Research Grant, International Parkinson and Movement Disorder Society, and MJFF. Deborah Mascalzoni\u2014Grants: Deutsche Forschungsgemeinschaft (FOR2488); the Department of Innovation, Research and Universities of the Province of South Tyrol; and the Innovative Medicines Initiative project FACILITATE. R.N.A. has received consultation fees from Sanofi, Takeda, and Gain Therapeutics; his institution received research grants from Biogen. S.B. was supported by the South African Medical Research Council. E.G. has contracts with Roche for clinical trials and CHDI foundation for Enroll\u2010HD study. N.E.M. has received honorarium from the Parkinson's Foundation to serve in the steering committee of the PD GENEration study. R.S.\u2010P. was supported by National Institute of Neurological Disorders and Stroke Grants U01 NS107016 (related, but no conflict) and P20NS123220 and the NY Empire Clinical Research Investigator Program. G.P., L.C., J.S., J.V., M.M., C.M.S., V.B., S.J.C., T.F., A.H., N.H., T.L., K.M., D.M., I.N., A.T., D.R., M.S., A.S., O.S., T.S., and C.K. have nothing to report. Relevant conflicts of interest/financial disclosures: Vincenzo Bonifati\u2014Employment: Erasmus MC Rotterdam, the Netherlands. Honoraria: The International Parkinson and Movement Disorder Society, as Chair of the Int. Congress Scientific Program Committee 2019\u20132021; Elsevier Ltd, as co\u2010Editor\u2010in\u2010Chief of Parkinsonism & Related Disorders. Grants: Alzheimer Nederland; Stichting Parkinson Fonds (the Netherlands). Christine Klein\u2014Consultancies: Centogene and Lundbeck. Advisory Boards: Retromer Therapeutics. Employment: University of L\u00FCbeck and University Hospital Schleswig\u2010Holstein. Honoraria: Desitin. Royalties: Oxford University Press. Grants: German Research Foundation, BMBF, and MJFF. Partnerships. Royalties: Oxford University Press. Patents: PCT/AU2015/000194. Grants: National Health and Medical Research Council of Australia, Medical Research Futures Fund, Aligning Science Across Parkinson's (ASAP).
Keywords
- Parkinson's disease
- attitudes
- genetic counseling
- genetic testing
ASJC Scopus subject areas
- Neurology
- Clinical Neurology