DISCERN-Genetics: quality criteria for information on genetic testing
DISCERN-Genetics: quality criteria for information on genetic testing
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DOI：
10.1038/sj.ejhg.5201701
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发表时间：
2006-11-01
影响因子：
5.2
通讯作者：
Rose, Peter
中科院分区：
文献类型：
--
作者：
Shepperd, Sasha;Farndon, Peter;Rose, Peter
目前向公众提供的信息不足以支持那些决定同意基因检测的人。随着基因知识的不断发展，更多的人将被迫考虑基因检测带来的复杂问题。我们制定并测试了标准，以指导为公众制作和评估有关基因检测的信息资源。有或没有遗传疾病经验的普通人，健康信息的提供者和生产者评估并列出他们用来对囊性纤维化、唐氏综合症、家族性乳腺癌、家族性结肠癌、血色沉着症、亨廷顿病、镰状细胞病和地中海贫血症等信息样本的质量进行评级的标准。这些遗传疾病代表不同的人群、疾病途径和治疗决定。信息媒体可以是书面的、电子的、CD的、音频的或视频的。对质量标准进行了迭代测试(使用加权kappa统计量)，以了解用户对不同信息样本连续起草标准的一致性程度。最终的一套标准包括19个问题和一个整体质量评级。评价者对总体质量评级的机会校正一致性(加权kappa)为0.61(0.60-0.62)。这些标准涵盖了信息资源的范围、有关条件的信息、测试程序和结果、决策以及信息的可靠性。识别遗传学标准将指导为公众提供的信息的产生和评估，并将促进公众参与有关基因筛查和检测的决策。
Information currently available to the public is inadequate to support those deciding to consent to a genetic test. As genetic knowledge continues to evolve, more people will be forced to consider the complex issues raised by genetic testing. We developed and tested criteria to guide the production and appraisal of information resources produced for the public on genetic testing. Lay people with and without experience of a genetic condition, and providers and producers of health information appraised and listed the criteria they used to rate the quality of a sample of information on cystic fibrosis, Down's syndrome, familial breast cancer, familial colon cancer, haemochromatosis, Huntington's disease, sickle cell disease, and thalassaemia. These genetic conditions represent different populations, disease pathways, and treatment decisions. The information medium could be written, electronic, CD, audio or video. The quality criteria were tested iteratively ( using the weighted kappa statistic) for the level of agreement between users applying successive drafts of the criteria to different samples of information. The final set of criteria consisted of 19 questions plus an overall quality rating. Chance corrected agreement ( weighted kappa) among the appraisers for the overall quality rating was 0.61 (0.60 - 0.62). The criteria cover the scope of the information resources, information on the condition, the test procedure and results, decision making, and the reliability of the information. The DISCERN-Genetics criteria will guide the production and appraisal of information produced for the public, and will facilitate the involvement of the public in decisions around genetic screening and testing.