眼科医生对年龄相关性黄斑变性遗传学的看法：定性研究的结果。
Views of ophthalmologists on the genetics of age-related macular degeneration: Results of a qualitative study.
机构信息
Medical Sociology, Institute for Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany.
Department of Ophthalmology, University Hospital Regensburg, Regensburg, Germany.
出版信息
PLoS One. 2018 Dec 20;13(12):e0209328. doi: 10.1371/journal.pone.0209328. eCollection 2018.
BACKGROUND
Age-related macular degeneration (AMD) is the leading cause of blindness in industrialized countries. It is a multifactorial disease of the retina modified by environmental/individual (e.g. smoking) and genetic factors. 34 independent genomic loci are associated with the risk to develop AMD; an interaction between smoking and genetics is currently investigated. It is unclear how the knowledge on the strong genetic component has entered the knowledge base of practicing ophthalmologists, and how they inform and counsel their (AMD) patients about it. In this study, we explore the ophthalmologists' view on AMD genetics, and their inclination towards communicating genetic risks to patients.
METHODS
We recruited a purposive sample of thirty German ophthalmologists (office based: n = 15, hospital employees: n = 15, f:8/30), who took part in a recorded semi-standardized interview. Transcripts were analyzed using content analysis.
RESULTS
The majority of office-based ophthalmologists claimed to be unfamiliar with genetics of AMD, in contrast to hospital-affiliated ophthalmologists. Both office and hospital ophthalmologists were convinced that genetics lacks practical relevance in everyday patient care. Many withhold information on heritability or genetic background of AMD from patients and their relatives, for fear of unsettling those individuals. The relevance of the genetic component of AMD or an individuals' high genetic risk for prevention, e.g. screening or lifestyle modifications in persons with adverse genetic profile, was rated low.
CONCLUSION
Developing genetic educational programs tailored to the routine care of ophthalmologists may be indicated, as well as a better two-way communication between research and practice. Exploring patient views about their expectations to being informed about genetic disease etiology, or about their individual risk, would help inform communication strategies.
背景
年龄相关性黄斑变性（AMD）是工业化国家致盲的主要原因。它是一种受环境/个体（如吸烟）和遗传因素影响的多因素视网膜疾病。34 个独立的基因组位点与 AMD 的发病风险相关；目前正在研究吸烟和遗传之间的相互作用。尚不清楚关于强遗传成分的知识是如何进入执业眼科医生的知识库的，以及他们如何向（AMD）患者告知和咨询这些知识。在这项研究中，我们探讨了眼科医生对 AMD 遗传学的看法，以及他们向患者传达遗传风险的倾向。
方法
我们招募了 30 名德国眼科医生（门诊：n = 15，医院员工：n = 15，f：8/30）作为有目的的样本，他们参加了记录的半标准化访谈。使用内容分析法分析转录本。
结果
大多数门诊眼科医生声称对 AMD 的遗传学不熟悉，而医院附属的眼科医生则不同。门诊和医院的眼科医生都认为遗传学在日常患者护理中没有实际意义。许多人向患者及其亲属隐瞒遗传易感性或 AMD 的遗传背景信息，因为担心会使这些人感到不安。AMD 的遗传成分或个体的高遗传风险（例如，对具有不利遗传特征的个体进行筛查或生活方式改变）的相关性被认为较低。
结论
可能需要为眼科医生的常规护理量身定制遗传教育计划，以及研究与实践之间更好的双向沟通。探索患者对了解遗传疾病病因或个人风险的期望，或对个人风险的期望，将有助于制定沟通策略。
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