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在菲律宾一个原住民社区开展的与A2ML1相关中耳炎高患病率相关的遗传咨询。

Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media.

作者信息

la Paz Eva Maria Cutiongco-de, Pedro Melquiadesa, Yarza Talitha Karisse L, Lagrana-Villagracia Sheryl Mae, Amoranto Abegail Jayne P, Jover Edbert Jasper M, Domine Ma Theresa B, Chiong Charlotte M, Santos-Cortez Regie Lyn P

机构信息

University of the Philippines (UP) Manila - National Institutes of Health (NIH), Pedro Gil St., 1000, Manila, Philippines.

Section of Genetics, Department of Pediatrics, UP College of Medicine - Philippine General Hospital (PGH), Taft Ave., Ermita, 1000, Manila, Philippines.

出版信息

J Community Genet. 2019 Jan;10(1):143-151. doi: 10.1007/s12687-018-0368-2. Epub 2018 Jun 15.

Abstract

In this report, we describe the knowledge and beliefs on causes and management of otitis media of an indigenous Filipino community with a high prevalence of otitis media that is associated with an A2ML1 variant. Community lectures and individual genetic counseling were provided as intervention. Knowledge, beliefs, and health care-seeking behavior pertaining to otitis media were assessed pre- and post-genetic counseling. Twenty-five heads of households were interviewed. Beliefs regarding etiology of ear discharge varied widely, with swimming in the sea as the most commonly cited cause of ear discharge. During the post-counseling session, poor personal hygiene, dirty environment, and familial inheritance were mentioned as risk factors for otitis media or ear discharge. Knowledge about the genotypes for the A2ML1 variant and otitis media diagnoses within the household influenced beliefs on the role of hygiene and genetic susceptibility to otitis media and attitudes towards health care-seeking behavior. Genetic counseling was associated with variable improvement in knowledge on otitis media and in their understanding of genetic susceptibility to otitis media due to the A2ML1 variant. Language barriers, literacy level, cultural factors, and the complex nature of genetic information made genetic counseling in the particular population a challenge. Insights drawn from this experience recommend follow-up visits in the community.

摘要

在本报告中,我们描述了一个中耳炎患病率很高且与A2ML1变异相关的菲律宾原住民社区对中耳炎病因及治疗的认识和看法。作为干预措施,我们举办了社区讲座并提供了个体遗传咨询。在遗传咨询前后,我们评估了与中耳炎相关的知识、看法及寻求医疗行为。我们采访了25户家庭的户主。关于耳流脓病因的看法差异很大,最常提到的耳流脓原因是在海里游泳。在咨询后阶段,个人卫生习惯差、环境脏污和家族遗传被提及为中耳炎或耳流脓的风险因素。家庭中对A2ML1变异基因型及中耳炎诊断的了解影响了对卫生习惯在中耳炎中的作用、遗传易感性以及对寻求医疗行为态度的看法。遗传咨询与中耳炎知识及对A2ML1变异导致的中耳炎遗传易感性理解的不同程度改善相关。语言障碍、识字水平、文化因素以及遗传信息的复杂性使得在该特定人群中进行遗传咨询成为一项挑战。从这次经历中得出的见解建议在社区进行随访。

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本文引用的文献

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