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公众对基于全基因组的健康检测持何种态度?——一项范围综述。

How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review.

机构信息

Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

出版信息

Eur J Hum Genet. 2023 Jan;31(1):35-47. doi: 10.1038/s41431-022-01208-5. Epub 2022 Oct 19.

DOI:10.1038/s41431-022-01208-5
PMID:36257982
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9822972/
Abstract

The benefits of genomic testing are primarily reported in rare disease, cancer diagnosis and disease management. However, as research into its application in common, more complex conditions grows, as well as the increased prevalence of carrier screening programs, the genomic naive public is more likely to be offered testing in future. To promote social acceptability and ethical application of this technology, it is essential that public perceptions of genomics are considered. Previous studies, however, have primarily focussed on the views of those with genetic conditions or those undergoing genetic testing. The aim of this scoping review is to investigate the genomic naive public's perceptions of clinical genomics and clinical genomic testing. Embase, MEDLINE and PubMed databases were searched, with a total of 3460 articles identified. Data analysis was organised according to the nonadoption, abandonment, scale-up, spread, and sustainability (NASSS) framework. Sixteen full-text articles were included in the final analysis. Most of the studies used questionnaires to determine attitudes of the public toward clinical genomics (n = 12). Public perceptions were found to underpin technology (Domain 2), value proposition (Domain 3), the adopter system (Domain 4) and the wider context (Domain 6) of the NASSS framework, highlighting its importance when considering implementation of an innovative technology such as genomic testing. Our study shows public perceptions are diverse, and highlights the need for more studies on the views of underrepresented groups and the impact of cultural contexts on perceptions.

摘要

基因组检测的益处主要在罕见病、癌症诊断和疾病管理中得到报道。然而,随着对其在常见、更复杂疾病中应用的研究不断增加,以及携带者筛查计划的普及,基因组学的门外汉将来更有可能被提供检测。为了促进这项技术的社会可接受性和伦理应用,必须考虑公众对基因组学的看法。然而,之前的研究主要集中在那些有遗传条件或正在接受基因检测的人的观点上。本研究旨在调查基因组学门外汉对临床基因组学和临床基因组检测的看法。我们检索了 Embase、MEDLINE 和 PubMed 数据库,共确定了 3460 篇文章。数据分析是根据非采用、放弃、扩大规模、传播和可持续性(NASSS)框架进行的。最终分析纳入了 16 篇全文文章。大多数研究使用问卷调查来确定公众对临床基因组学的态度(n=12)。研究发现,公众的看法是支撑技术(领域 2)、价值主张(领域 3)、采用者系统(领域 4)和 NASSS 框架的更广泛背景(领域 6)的基础,这凸显了在考虑实施创新技术(如基因组检测)时考虑其重要性。我们的研究表明,公众的看法是多种多样的,并强调需要更多研究来了解代表性不足的群体的观点以及文化背景对看法的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0634/9822972/544c7ef58a06/41431_2022_1208_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0634/9822972/d9d8831437db/41431_2022_1208_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0634/9822972/544c7ef58a06/41431_2022_1208_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0634/9822972/d9d8831437db/41431_2022_1208_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0634/9822972/544c7ef58a06/41431_2022_1208_Fig2_HTML.jpg

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