Kruse Judith, Mueller Regina, Aghdassi Ali A, Lerch Markus M, Salloch Sabine
Institute of Ethics and History of Medicine, University Medicine Greifswald, Greifswald, Germany.
Institute of Ethics and History of Medicine, Medical Faculty, University Tübingen, Tübingen, Germany.
Front Genet. 2022 Jan 26;12:701988. doi: 10.3389/fgene.2021.701988. eCollection 2021.
Genetic testing is associated with many ethical challenges on the individual, organizational and macro level of health care systems. The provision of genetic testing for rare diseases in particular requires a full understanding of the complexity and multiplicity of related ethical aspects. This systematic review presents a detailed overview of ethical aspects relevant to genetic testing for rare diseases as discussed in the literature. The electronic databases Pubmed, Science Direct and Web of Science were searched, resulting in 55 relevant publications. From the latter, a total of 93 different ethical aspects were identified. These ethical aspects were structured into three main categories (process of testing, consequences of the test outcome and contextual challenges) and 20 subcategories highlighting the diversity and complexity of ethical aspects relevant to genetic testing for rare diseases. This review can serve as a starting point for the further in-depth investigation of particular ethical issues, the education of healthcare professionals regarding this matter and for informing international policy development on genetic testing for rare diseases.
基因检测在医疗保健系统的个人、组织和宏观层面都面临着诸多伦理挑战。尤其是为罕见病提供基因检测，需要充分理解相关伦理问题的复杂性和多样性。本系统综述详细概述了文献中讨论的与罕见病基因检测相关的伦理问题。检索了电子数据库PubMed、Science Direct和Web of Science，共获得55篇相关出版物。从中总共识别出93个不同的伦理问题。这些伦理问题被归纳为三个主要类别（检测过程、检测结果的后果以及背景挑战）和20个子类别，突出了与罕见病基因检测相关的伦理问题的多样性和复杂性。本综述可作为进一步深入研究特定伦理问题、对医疗保健专业人员进行这方面教育以及为罕见病基因检测的国际政策制定提供参考的起点。
