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向患者和非专业人士解读遗传检测报告的设计建议。

Recommendations for designing genetic test reports to be understood by patients and non-specialists.

机构信息

Winton Centre for Risk & Evidence Communication, University of Cambridge, Cambridge, CB3 0WA, UK.

Division of Neuroscience & Experimental Psychology, University of Manchester, Manchester, M13 9PL, UK.

出版信息

Eur J Hum Genet. 2020 Jul;28(7):885-895. doi: 10.1038/s41431-020-0579-y. Epub 2020 Feb 5.

Abstract

Patients and non-specialist healthcare professionals are increasingly expected to understand and interpret the results of genetic or genomic testing. These results are currently reported using a variety of templates, containing different amounts, levels, and layouts of information. We set out to establish a set of recommendations for communicating genetic test results to non-expert readers. We employed a qualitative-descriptive study design with user-centred design principles, including a mixture of in-person semi-structured interviews and online questionnaires with patients, healthcare professionals and the general public. The resulting recommendations and example template include providing at-a-glance comprehension of what the test results mean for the patient; suggested next steps; and details of further information and support. Separation and inclusion of technical methodological details enhances non-specialists' understanding, while retaining important information for specialists and the patients' records. The recommendations address the high-level needs of patients and their non-specialist clinicians when receiving genetic test results. These recommendations provide a solid foundation for the major content and structure of reports, and we recommend further engagement with patients and clinicians to tailor reports to specific types of test and results.

摘要

患者和非专业医疗保健专业人员越来越需要理解和解释基因或基因组检测的结果。这些结果目前使用各种模板报告,其中包含不同数量、层次和布局的信息。我们着手为向非专业读者传达基因检测结果制定了一套建议。我们采用了定性描述性研究设计,并运用以用户为中心的设计原则,包括对患者、医疗保健专业人员和公众进行面对面的半结构化访谈和在线问卷调查。最终的建议和示例模板包括:一眼就能理解测试结果对患者意味着什么;建议的下一步;以及更多信息和支持的详细信息。技术方法细节的分离和包含增强了非专业人员的理解,同时为专家和患者的记录保留了重要信息。这些建议满足了患者及其非专业临床医生在收到基因检测结果时的高级需求。这些建议为报告的主要内容和结构提供了坚实的基础,我们建议进一步与患者和临床医生合作,根据特定类型的测试和结果定制报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95ce/7316722/82ab1ef872dc/41431_2020_579_Fig1_HTML.jpg

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