Ames Alice Grace, Metcalfe Sylvia Ann, Dalton Archibald Alison, Duncan Rony Emily, Emery Jon
1] Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
1] Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia [3] Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
Eur J Hum Genet. 2015 Jan;23(1):8-21. doi: 10.1038/ejhg.2014.89. Epub 2014 May 21.
Genetic screening and health-care guidelines recommend that programmes should facilitate informed choice. It is therefore important that accurate measures of informed choice are available to evaluate such programmes. This review synthesises and appraises measures used to evaluate informed choice in population-based genetic screening programmes for reproductive risk. Databases were searched for studies offering genetic screening for the purpose of establishing reproductive risk to an adult population sample, in which aspects of informed choice were measured. Studies were included if, at a minimum, measures of uptake of screening and knowledge were used. Searches identified 1462 citations and 76 studies were reviewed in full text; 34 studies met the inclusion criteria. Over 20 different measures of informed choice were used. Many measures lacked adequate validity and reliability data. This systematic review will inform future evaluation of informed choice in population genetic screening programmes.
基因筛查与医疗保健指南建议，相关项目应促进知情选择。因此，提供准确的知情选择衡量标准对于评估此类项目很重要。本综述综合并评估了用于评估基于人群的生殖风险基因筛查项目中知情选择的衡量标准。检索数据库以查找针对成年人群样本开展基因筛查以确定生殖风险的研究，这些研究中对知情选择的各个方面进行了衡量。若至少使用了筛查接受率和知识的衡量标准，则纳入这些研究。检索共识别出1462条引文，对76项研究进行了全文审查；34项研究符合纳入标准。使用了20多种不同的知情选择衡量标准。许多衡量标准缺乏充分的效度和信度数据。本系统综述将为未来人群基因筛查项目中知情选择的评估提供参考。
