International Genetic Testing and Counseling Practices for Parkinson's Disease

Rachel Saunders-Pullman^{1

2}, Deborah Raymond^{1

2}, Roberto A Ortega^{1

2}, Ali Shalash³, Emilia Gatto⁴, Mehri Salari⁵, Maggie Markgraf^{1

2}, Roy N Alcalay^{6

7}, Deborah Mascalzoni^{8

9}, Niccolò E Mencacci¹⁰, Vincenzo Bonifati¹¹, Marcelo Merello^{12

13

14}, Sun Ju Chung¹⁵, Ivana Novakovic¹⁶, Soraya Bardien^{17

18}, Gian Pal¹⁹, Anne Hall²⁰, Nobutaka Hattori^{21

22

23}, Timothy Lynch^{24

25}, Avner Thaler^{26

27

28

29}, Carolyn M Sue³⁰, Tatiana Foroud³¹, Jennifer Verbrugge³¹, Jeanine Schulze³¹, Lola Cook³¹, Karen Marder⁶, Oksana Suchowersky³², Christine Klein³³, Tatyana Simuni¹⁰

Affiliations

¹ Department of Neurology, Mount Sinai Beth Israel, New York, New York, USA.
² Icahn School of Medicine, Mount Sinai, New York, New York, USA.
³ Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
⁴ Instituto de Neurociencias Buenos Aires, Affiliated University of Buenos Aires, Buenos Aires, Argentina.
⁵ Functional Neurosurgery Research Center, Shohada-e Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
⁶ Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
⁷ Movement Disorders Division, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
⁸ Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
⁹ Center for Research Ethics and Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.
¹⁰ Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
¹¹ Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
¹² Movement Disorders Section, Neuroscience Department Fleni, Buenos Aires, Argentina.
¹³ National Research Council (CONICET), Buenos Aires, Argentina.
¹⁴ Pontifical Catholic University of Argentina, Buenos Aires, Argentina.
¹⁵ Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
¹⁶ Faculty of Medicine, Institute of Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.
¹⁷ Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
¹⁸ South African Medical Research Council, Stellenbosch University Genomics of Brain Disorders Research Unit, Cape Town, South Africa.
¹⁹ Department of Neurology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
²⁰ Research Advocate, Parkinson's Foundation, New York, New York, USA.
²¹ Department of Neurology, Faculty of Medicine, Juntendo University Tokyo, Japan.
²² Research Institute of Disease of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
²³ Neurodegenerative Disorders Collaborative Laboratory, RIKEN Center for Brain Science, Saitama, Japan.
²⁴ The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.
²⁵ Health Affairs & School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
²⁶ Movement Disorders Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
²⁷ Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
²⁸ Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
²⁹ Laboratory of Early Markers of Neurodegeneration, Neurological Institute, Tel Aviv Medical Center, Tel Aviv, Israel.
³⁰ Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, Australia.
³¹ Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
³² Departments of Medicine (Neurology), Medical Genetics and Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
³³ Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.

PMID: 37310233
PMCID: PMC10461455
DOI: 10.1002/mds.29442

International Genetic Testing and Counseling Practices for Parkinson's Disease

Rachel Saunders-Pullman et al. Mov Disord. 2023 Aug.

. 2023 Aug;38(8):1527-1535.

doi: 10.1002/mds.29442. Epub 2023 Jun 13.

Authors

Affiliations

¹ Department of Neurology, Mount Sinai Beth Israel, New York, New York, USA.
² Icahn School of Medicine, Mount Sinai, New York, New York, USA.
³ Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
⁴ Instituto de Neurociencias Buenos Aires, Affiliated University of Buenos Aires, Buenos Aires, Argentina.
⁵ Functional Neurosurgery Research Center, Shohada-e Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
⁶ Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
⁷ Movement Disorders Division, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
⁸ Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
⁹ Center for Research Ethics and Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.
¹⁰ Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
¹¹ Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
¹² Movement Disorders Section, Neuroscience Department Fleni, Buenos Aires, Argentina.
¹³ National Research Council (CONICET), Buenos Aires, Argentina.
¹⁴ Pontifical Catholic University of Argentina, Buenos Aires, Argentina.
¹⁵ Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
¹⁶ Faculty of Medicine, Institute of Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.
¹⁷ Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
¹⁸ South African Medical Research Council, Stellenbosch University Genomics of Brain Disorders Research Unit, Cape Town, South Africa.
¹⁹ Department of Neurology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
²⁰ Research Advocate, Parkinson's Foundation, New York, New York, USA.
²¹ Department of Neurology, Faculty of Medicine, Juntendo University Tokyo, Japan.
²² Research Institute of Disease of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
²³ Neurodegenerative Disorders Collaborative Laboratory, RIKEN Center for Brain Science, Saitama, Japan.
²⁴ The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.
²⁵ Health Affairs & School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
²⁶ Movement Disorders Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
²⁷ Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
²⁸ Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
²⁹ Laboratory of Early Markers of Neurodegeneration, Neurological Institute, Tel Aviv Medical Center, Tel Aviv, Israel.
³⁰ Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, Australia.
³¹ Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
³² Departments of Medicine (Neurology), Medical Genetics and Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
³³ Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.

PMID: 37310233
PMCID: PMC10461455
DOI: 10.1002/mds.29442

Abstract

Background: There is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct-to-consumer testing.

Objectives: The aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations.

Methods: A web-based survey assessing current practices, concerns, and barriers to genetic testing and counseling was administered to the International Parkinson and Movement Disorders Society membership.

Results: Common hurdles across sites included cost and access to genetic testing, and counseling, as well as education on genetic counseling. Region-dependent differences in access to and availability of testing and counseling were most notable in Africa. High-income countries also demonstrated heterogeneity, with European nations more likely to have genetic testing covered through insurance than Pan-American and Asian countries.

Conclusions: This survey highlights not only diversity of barriers in different regions but also the shared and highly actionable needs for improved education and access to genetic counseling and testing for PD worldwide. © 2023 International Parkinson and Movement Disorder Society.

Keywords: Parkinson's disease; disparities; genetic counseling; genetic testing; genetics.

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References

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International Genetic Testing and Counseling Practices for Parkinson's Disease

Affiliations

International Genetic Testing and Counseling Practices for Parkinson's Disease

Authors

Affiliations

Abstract

References

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LinkOut - more resources

Full Text Sources

Medical