Browsing by Author "Bardien, Soraya"

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    Genetic Testing in Parkinson's Disease
    (Wiley, 2023) 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; Medical and Molecular Genetics, School of Medicine
    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.
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    International Genetic Testing and Counseling Practices for Parkinson's Disease
    (Wiley, 2023) Saunders-Pullman, Rachel; Raymond, Deborah; Ortega, Roberto A.; Shalash, Ali; Gatto, Emilia; Salari, Mehri; Markgraf, Maggie; Alcalay, Roy N.; Mascalzoni, Deborah; Mencacci, Niccolò E.; Bonifati, Vincenzo; Merello, Marcelo; Chung, Sun Ju; Novakovic, Ivana; Bardien, Soraya; Pal, Gian; Hall, Anne; Hattori, Nobutaka; Lynch, Timothy; Thaler, Avner; Sue, Carolyn M.; Foroud, Tatiana; Verbrugge, Jennifer; Schulze, Jeanine; Cook, Lola; Marder, Karen; Suchowersky, Oksana; Klein, Christine; Simuni, Tatyana; Medical and Molecular Genetics, School of Medicine
    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.
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    Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions
    (Wiley, 2022) Schumacher-Schuh, Artur Francisco; Bieger, Andrei; Okunoye, Olaitan; Mok, Kin Ying; Lim, Shen-Yang; Bardien, Soraya; Ahmad-Annuar, Azlina; Santos-Lobato, Bruno Lopes; Zschornack Strelow, Matheus; Salama, Mohamed; Rao, Shilpa C.; Zewde, Yared Zenebe; Dindayal, Saiesha; Azar, Jihan; Kukkle Prashanth, Lingappa; Rajan, Roopa; Noyce, Alastair J.; Okubadejo, Njideka; Rizig, Mie; Lesage, Suzanne; Mata, Ignacio Fernandez; Global Parkinson’s Genetics Program (GP2); Medical and Molecular Genetics, School of Medicine
    Background: Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. Objective: This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. Methods: We searched PubMed and EMBASE until October 2021 using search strings for "PD," "genetics," the main "URP," and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non-European populations. Two levels of independent reviewers identified and extracted information. Results: We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome-wide approach published up to 2021, including URPs. Conclusion: This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future.