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领养者对直接面向消费者(DTC)基因检测的看法与体验:一项来自英国的探索性访谈研究

Adoptees' views and experiences of direct-to-consumer (DTC) genomic testing: an exploratory interview study from the UK.

作者信息

Kay Alison C, Taverner Nicola V

机构信息

The MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

School of Medicine, Cardiff University, Cardiff, UK.

出版信息

J Community Genet. 2023 Apr;14(2):149-162. doi: 10.1007/s12687-022-00622-y. Epub 2022 Nov 29.

DOI:10.1007/s12687-022-00622-y
PMID:36445643
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10104993/
Abstract

Direct-to-consumer (DTC) genomic testing for ancestry and health may appeal to adoptees looking to fill gaps in their family information. There are only a handful of published studies on adoptees' views and experiences of DTC testing and none of these is from the UK. The recent UK House of Commons Science and Technology Committee report (GB Parliament, House of Commons 2021) did not address the gains or challenges for adopted people specifically, although the Committee did consider that robust evidence of opportunities or risks for any user of a DTC testing kit is limited. In this study presented here, semi-structured interviews were conducted with ten UK adult adoptees recruited via social media. Reflexive thematic analysis (Braun and Clarke 2006, 2019) of the interview transcripts identified three main themes: Decisional influencers of longing, uncertainty and normalisation of DNA kit use; Informational drivers to gain clarity but avoid new worrisome information; and talk around Negotiating Visibility to birth family and commercial third parties. A further theme of Meaning Making related to adoptees' views of testing outcomes as bringing feelings of resolution or discordance. This study identified many challenging deliberations for adoptees in evaluating whether to take a DTC test and what to do when their results were returned. Additionally, adoptees' consideration of data privacy issues appears hampered by already having shared identifying information about themselves in their wider adoptee search. Further research is encouraged.

摘要

面向消费者的(DTC)用于血统和健康的基因检测可能会吸引那些希望填补家庭信息空白的被收养者。关于被收养者对DTC检测的看法和经历,仅有少数已发表的研究,且没有一项来自英国。英国下议院科学技术委员会最近的报告(英国议会,下议院,2021年)并未专门探讨被收养者的收获或挑战,尽管该委员会确实认为,对于DTC检测试剂盒的任何用户而言,有关机会或风险的有力证据都很有限。在本文介绍的这项研究中,通过社交媒体招募了10名英国成年被收养者,并对他们进行了半结构化访谈。对访谈记录进行反思性主题分析(布劳恩和克拉克,2006年、2019年),确定了三个主要主题:渴望、不确定性以及DNA试剂盒使用常态化的决策影响因素;获取清晰信息但避免新的令人担忧信息的信息驱动因素;以及围绕与原生家庭和商业第三方协商可见性的讨论。另一个与被收养者对检测结果的看法相关的主题是意义建构,即检测结果带来解决感或不一致感。这项研究发现,被收养者在评估是否进行DTC检测以及收到检测结果后该怎么做时,面临着许多具有挑战性的思考。此外,由于被收养者在更广泛的寻亲过程中已经分享了自己的身份识别信息,他们对数据隐私问题的考虑似乎受到了阻碍。鼓励进行进一步的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50b4/10104993/f84b7d602ca7/12687_2022_622_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50b4/10104993/f84b7d602ca7/12687_2022_622_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50b4/10104993/f84b7d602ca7/12687_2022_622_Fig1_HTML.jpg

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本文引用的文献

1
Adult adoptees and their use of direct-to-consumer genetic testing: Searching for family, searching for health.成人被收养者及其对直接面向消费者的基因检测的使用:寻找家庭,寻找健康。
J Genet Couns. 2021 Feb;30(1):144-157. doi: 10.1002/jgc4.1304. Epub 2020 Jun 29.
2
Family Health History: Invaluable for Adoptees' Medical Care and Self Identity.家族健康史:对领养者的医疗护理和自我认知至关重要。
Narrat Inq Bioeth. 2018;8(2):143-149. doi: 10.1353/nib.2018.0052.
3
Adoptees' Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity.
被收养者寻求基因检测以填补家族健康史空白并减少医疗保健差异。
Narrat Inq Bioeth. 2018;8(2):131-135. doi: 10.1353/nib.2018.0050.
4
Ethics in genetic counselling.遗传咨询中的伦理问题。
J Community Genet. 2019 Jan;10(1):3-33. doi: 10.1007/s12687-018-0371-7. Epub 2018 Jun 14.
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Direct-to-Consumer Genetic Testing: Finding a Clear Path Forward.直接面向消费者的基因检测:探寻清晰的前行之路。
Ther Innov Regul Sci. 2018 Jul;52(4):482-488. doi: 10.1177/2168479017744774. Epub 2017 Dec 20.
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Adopted Individuals' Views on the Utility and Value of Expanded Carrier Screening.领养个体对扩展携带者筛查的效用和价值的看法。
J Genet Couns. 2018 Dec;27(6):1341-1348. doi: 10.1007/s10897-018-0256-2. Epub 2018 Mar 30.
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Society and personal genome data.社会与个人基因组数据。
Hum Mol Genet. 2018 May 1;27(R1):R8-R13. doi: 10.1093/hmg/ddy084.
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The dawn of consumer-directed testing.消费者导向检测的黎明。
Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):89-97. doi: 10.1002/ajmg.c.31603. Epub 2018 Mar 7.
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Genetic Testing between Private and Public Interests: Some Legal and Ethical Reflections.私人利益与公共利益之间的基因检测:一些法律和伦理思考
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