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Int J Mol Sci. 2020 Jan 24;21(3):768. doi: 10.3390/ijms21030768.
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Value-based genomic screening: exploring genomic screening for chronic diseases using triple value principles.基于价值的基因组筛查:运用三重价值原则探索慢性病的基因组筛查。
BMC Health Serv Res. 2019 Nov 11;19(1):823. doi: 10.1186/s12913-019-4703-z.
3
Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.培养医学专家以开展基因组医学实践:教育是更广泛战略的重要组成部分。
Front Genet. 2019 Sep 11;10:789. doi: 10.3389/fgene.2019.00789. eCollection 2019.
4
Digital Information Technology Use and Patient Preferences for Internet-Based Health Education Modalities: Cross-Sectional Survey Study of Middle-Aged and Older Adults With Chronic Health Conditions.数字信息技术的使用与患者对基于互联网的健康教育方式的偏好:对患有慢性健康状况的中老年人的横断面调查研究
JMIR Aging. 2019 Apr 4;2(1):e12243. doi: 10.2196/12243.
5
Genetic discrimination by Australian insurance companies: a survey of consumer experiences.澳大利亚保险公司的基因歧视:消费者体验调查。
Eur J Hum Genet. 2020 Jan;28(1):108-113. doi: 10.1038/s41431-019-0426-1. Epub 2019 Jul 8.
6
Awareness and acceptability of population-based screening for pathogenic BRCA variants: Do race and ethnicity matter?基于人群的致病性 BRCA 变异筛查的意识和可接受性:种族和民族重要吗?
Gynecol Oncol. 2019 Aug;154(2):383-387. doi: 10.1016/j.ygyno.2019.06.009. Epub 2019 Jun 22.
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Bridging the gap in genetics: a progressive model for primary to specialist care.弥合遗传学差距:从初级保健到专家护理的递进模式。
BMC Med Educ. 2019 Jun 11;19(1):195. doi: 10.1186/s12909-019-1622-y.
8
Australians' views and experience of personal genomic testing: survey findings from the Genioz study.澳大利亚人对个人基因组检测的看法和体验:Genioz 研究的调查结果。
Eur J Hum Genet. 2019 May;27(5):711-720. doi: 10.1038/s41431-018-0325-x. Epub 2019 Jan 21.
9
Genetics, Insurance and Professional Practice: Survey of the Australasian Clinical Genetics Workforce.遗传学、保险与专业实践:澳大利亚和新西兰临床遗传学工作队伍调查
Front Public Health. 2018 Nov 23;6:333. doi: 10.3389/fpubh.2018.00333. eCollection 2018.
10
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Genome Biol. 2018 Aug 20;19(1):120. doi: 10.1186/s13059-018-1506-1.

昆士兰消费者对临床遗传学服务的认知与理解。

Queensland Consumers' Awareness and Understanding of Clinical Genetics Services.

作者信息

Wallingford Courtney K, Cutler Katrina, Istiko Satrio Nindyo, Fowles Lindsay F, Lamb Rachel, Bean Jessica, Healy Louise, Hondow Gary, Pratt Gregory, Vidgen Miranda E, Waddell Nicola, Evans Erin, Bunker David, McInerney-Leo Aideen M

机构信息

Dermatology Research Centre, The University of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia.

Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia.

出版信息

Front Genet. 2020 Oct 15;11:537743. doi: 10.3389/fgene.2020.537743. eCollection 2020.

DOI:10.3389/fgene.2020.537743
PMID:33193608
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7593610/
Abstract

As genetic testing becomes increasingly utilized in health care, consumer awareness and understanding is critical. Both are reported to be low in Australia, though there are limited studies to date. A consumer survey assessed perceived knowledge, awareness and attitudes toward genetic medicine, prior to consumers' genomics forums in Queensland in 2018 and 2019. Data was analyzed using -test and Mann-Whitney tests analysis to detect any associations between sociodemographic factors and familiarity or attitudes. This highly educated and experienced health consumer cohort reported they were significantly more familiar with the healthcare system generally than genetic medicine specifically ( < 0.0001). Consumers perceived that genetic testing would be significantly more important in the future than it is currently ( < 0.00001). Consumers agreed that genetic testing should be promoted (91.4%), made available (100%), better funded (94.2%), and offered to all pregnant women (81.6%). The preferred learning modality about genetics was internet sites (62.7%) followed by talks/presentations (30.8%). Benefits of genetic testing, reported in qualitative responses, included the potential for additional information to promote personal control and improve healthcare. Perceived concerns included ethical implications (including privacy and discrimination), and current limitations of science, knowledge and/or practice. This study demonstrates that even knowledgeable consumers have little familiarity with genetic medicine but are optimistic about its potential benefits. Ethical concerns, particularly concerns regarding genetic discrimination should inform legislation and policy. Consumers are supportive of online resources in increasing genomic literacy.

摘要

随着基因检测在医疗保健中的应用越来越广泛,消费者的认知和理解至关重要。据报道,在澳大利亚,这两方面的水平都较低,不过迄今为止相关研究有限。一项消费者调查在2018年和2019年昆士兰州的消费者基因组学论坛之前,评估了消费者对基因医学的认知、了解程度和态度。使用t检验和曼-惠特尼检验分析数据,以检测社会人口统计学因素与熟悉程度或态度之间的任何关联。这个受过高等教育且经验丰富的健康消费者群体报告称,他们总体上对医疗保健系统的熟悉程度明显高于对基因医学的熟悉程度(P<0.0001)。消费者认为基因检测在未来将比目前重要得多(P<0.00001)。消费者一致认为应该推广基因检测(91.4%)、提供基因检测服务(100%)、增加资金投入(94.2%),并为所有孕妇提供基因检测(81.6%)。关于遗传学的首选学习方式是网站(62.7%),其次是讲座/演示(30.8%)。定性回答中提到的基因检测的好处包括有获得更多信息的可能性,以促进个人掌控并改善医疗保健。感知到的担忧包括伦理问题(包括隐私和歧视),以及科学、知识和/或实践方面的当前局限性。这项研究表明,即使是知识渊博的消费者对基因医学也了解甚少,但对其潜在益处持乐观态度。伦理问题,尤其是对基因歧视的担忧,应该为立法和政策提供依据。消费者支持通过在线资源提高基因组知识水平。