基因组数据的开放共享:谁在做以及为何这样做?

Open sharing of genomic data: Who does it and why?

作者信息

Haeusermann Tobias, Greshake Bastian, Blasimme Alessandro, Irdam Darja, Richards Martin, Vayena Effy

机构信息

Health Ethics and Policy Lab, Epidemiology, Biostatistics & Prevention Institute (EBPI), University of Zurich, Zurich, Switzerland.

Department of Sociology, University of Cambridge, Cambridge, United Kingdom.

出版信息

PLoS One. 2017 May 9;12(5):e0177158. doi: 10.1371/journal.pone.0177158. eCollection 2017.

Abstract

We explored the characteristics and motivations of people who, having obtained their genetic or genomic data from Direct-To-Consumer genetic testing (DTC-GT) companies, voluntarily decide to share them on the publicly accessible web platform openSNP. The study is the first attempt to describe open data sharing activities undertaken by individuals without institutional oversight. In the paper we provide a detailed overview of the distribution of the demographic characteristics and motivations of people engaged in genetic or genomic open data sharing. The geographical distribution of the respondents showed the USA as dominant. There was no significant gender divide, the age distribution was broad, educational background varied and respondents with and without children were equally represented. Health, even though prominent, was not the respondents' primary or only motivation to be tested. As to their motivations to openly share their data, 86.05% indicated wanting to learn about themselves as relevant, followed by contributing to the advancement of medical research (80.30%), improving the predictability of genetic testing (76.02%) and considering it fun to explore genotype and phenotype data (75.51%). Whereas most respondents were well aware of the privacy risks of their involvement in open genetic data sharing and considered the possibility of direct, personal repercussions troubling, they estimated the risk of this happening to be negligible. Our findings highlight the diversity of DTC-GT consumers who decide to openly share their data. Instead of focusing exclusively on health-related aspects of genetic testing and data sharing, our study emphasizes the importance of taking into account benefits and risks that stretch beyond the health spectrum. Our results thus lend further support to the call for a broader and multi-faceted conceptualization of genomic utility.

摘要

我们探究了那些从直接面向消费者的基因检测(DTC-GT)公司获取了自身基因或基因组数据后,自愿决定在可公开访问的网络平台openSNP上分享这些数据的人群的特征和动机。该研究首次尝试描述在没有机构监督的情况下个人进行的开放数据共享活动。在本文中,我们详细概述了参与基因或基因组开放数据共享的人群的人口统计学特征和动机分布情况。受访者的地理分布显示美国占主导地位。不存在显著的性别差异,年龄分布广泛,教育背景各异,有孩子和没有孩子的受访者比例相当。健康因素虽然突出,但并非受访者进行检测的主要或唯一动机。至于他们公开分享数据的动机,86.05%的人表示希望了解与自身相关的信息,其次是为医学研究的进步做出贡献(80.30%)、提高基因检测的可预测性(76.02%)以及认为探索基因型和表型数据很有趣(75.51%)。尽管大多数受访者充分意识到参与开放基因数据共享存在隐私风险,并认为可能会有直接的个人影响令人不安,但他们估计这种情况发生的风险微不足道。我们的研究结果突出了决定公开分享数据的DTC-GT消费者的多样性。我们的研究并非仅关注基因检测和数据共享中与健康相关的方面,而是强调了考虑超出健康范畴的益处和风险的重要性。因此,我们的结果进一步支持了对基因组效用进行更广泛、多方面概念化的呼吁。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77be/5423632/2e31f976b274/pone.0177158.g001.jpg

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