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dc.contributor.author Pal, Gian
dc.contributor.author Cook, Lola
dc.contributor.author Schulze, Jeanine
dc.contributor.author Verbrugge, Jennifer
dc.contributor.author Alcalay, Roy N.
dc.contributor.author Merello, Marcelo
dc.contributor.author Sue, Carolyn M.
dc.contributor.author Bardien, Soraya
dc.contributor.author Bonifati, Vincenzo
dc.contributor.author Chung, Sun Ju
dc.contributor.author Foroud, Tatiana
dc.contributor.author Gatto, Emilia M.
dc.contributor.author Hall, Anne
dc.contributor.author Hattori, Nobutaka
dc.contributor.author Lynch, Tim
dc.contributor.author Marder, Karen S.
dc.contributor.author Mascalzoni, Deborah
dc.contributor.author Novaković, Ivana
dc.contributor.author Thaler, Avner
dc.contributor.author Raymond, Deborah
dc.date.accessioned 2024-01-05T14:01:22Z
dc.date.available 2024-01-05T14:01:22Z
dc.date.issued 2023-06-27
dc.identifier.citation Pal G, Cook L, Schulze J, Verbrugge J, Alcalay RN, Merello M, Sue CM, Bardien S, Bonifati V, Chung SJ, Foroud T, Gatto EM, Hall A, Hattori N, Lynch T, Marder KS, Mascalzoni D, Novaković I, Thaler A, Raymond D, Salari M, Shalash A, Suchowersky O, Mencacci NE, Simuni T, Saunders-Pullman R, Klein C. Genetic Testing in Parkinson's Disease. Mov Disord. 2023 Aug;38(8):1384-1396. doi: 10.1002/mds.29500 es_ES
dc.identifier.uri https://doi.org/10.1002/mds.29500
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/957
dc.description.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. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. es_ES
dc.language.iso eng es_ES
dc.publisher Wiley es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.subject Parkinson Disease es_ES
dc.subject Enfermedad de Parkinson es_ES
dc.subject Genetic Testing es_ES
dc.subject Pruebas Genéticas es_ES
dc.title Genetic Testing in Parkinson's Disease es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.
dc.relation.ispartofVOLUME 38
dc.relation.ispartofNUMBER 8
dc.relation.ispartofPAGINATION 1384-1396
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Nueva York
dc.relation.ispartofTITLE Movement disorders
dc.relation.ispartofISSN 1531-8257
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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