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多米尼加共和国城市地区帕金森病患者及其亲属进行基因检测和咨询的准备情况。

Readiness for Parkinson's disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic.

作者信息

Hackl Margaret, Cook Lola, Wetherill Leah, Walsh Laurence E, Delk Paula, De León Rebeca, Carbonell Janfreisy, Vicioso Rossy Cruz, Hodges Priscila Delgado

机构信息

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.

Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USA.

出版信息

NPJ Parkinsons Dis. 2023 Aug 29;9(1):126. doi: 10.1038/s41531-023-00569-y.

Abstract

Genetic testing for Parkinson's disease (PD) is increasing globally, and genetic counseling is an important service that provides information and promotes understanding about PD genetics and genetic testing. PD research studies have initiated outreach to underrepresented regions in North America, including regions in Latin America, such as the Dominican Republic (DR); some studies may include return of genetic test results. Thus, understanding what individuals know about PD, genetic testing for PD, and their interest in speaking with a genetic counselor, is crucial when assessing readiness. In this cross-sectional study, a survey was distributed to people with Parkinson's disease (PwP) and their unaffected biological relatives in the DR. Questions assessed genetics knowledge, attitude toward genetic testing, and interest in genetic testing and counseling. Of 45 participants, 69% scored the maximum on the attitude scale, indicating an overall positive attitude toward genetic testing; 95% indicated interest in genetic testing for PD, and 98% were at least somewhat interested in meeting with a genetic counselor. The mean PD genetics knowledge score was similar to previously published data. Through free text responses, participants expressed a desire to know more about PD treatment and management, prevention, cause, and their personal risk for PD. These results provide further evidence of readiness for genetic testing in this country but also underscore some gaps in knowledge that should be addressed with targeted educational efforts, as part of building genetic testing and counseling capacities.

摘要

帕金森病(PD)的基因检测在全球范围内日益增加,而遗传咨询是一项重要服务,它提供有关PD遗传学和基因检测的信息并促进人们对其的理解。PD研究已经开始向北美代表性不足的地区进行推广,包括拉丁美洲的一些地区,如多米尼加共和国(DR);一些研究可能包括反馈基因检测结果。因此,在评估准备情况时,了解个体对PD、PD基因检测的了解程度以及他们与遗传咨询师交谈的兴趣至关重要。在这项横断面研究中,对DR的帕金森病患者(PwP)及其未受影响的生物学亲属进行了一项调查。问题评估了遗传学知识、对基因检测的态度以及对基因检测和咨询的兴趣。在45名参与者中,69%在态度量表上获得了最高分,表明对基因检测总体持积极态度;95%表示对PD基因检测感兴趣,98%至少对与遗传咨询师会面有些兴趣。PD遗传学知识的平均得分与之前发表的数据相似。通过自由文本回复,参与者表达了想要更多了解PD治疗与管理、预防、病因以及自身患PD风险 的愿望。这些结果进一步证明了该国对基因检测的准备情况,但也凸显了一些知识差距,作为建立基因检测和咨询能力的一部分,应以有针对性的教育努力加以解决。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd34/10465483/518c91b21c47/41531_2023_569_Fig1_HTML.jpg

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