Open sharing of genomic data: Who does it and why?
Open sharing of genomic data: Who does it and why?
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DOI：
10.1371/journal.pone.0177158
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发表时间：
2017
期刊：
影响因子：
3.7
通讯作者：
Vayena E
中科院分区：
文献类型：
--
作者：
Haeusermann T;Greshake B;Blasimme A;Irdam D;Richards M;Vayena E
我们探索了从直接面向消费者的基因检测 (DTC-GT) 公司获得基因或基因组数据并自愿决定在可公开访问的网络平台 openSNP 上分享的人们的特征和动机。该研究是首次尝试描述个人在没有机构监督的情况下进行的开放数据共享活动。在本文中，我们详细概述了参与遗传或基因组开放数据共享的人们的人口特征和动机的分布。受访者的地理分布显示美国占主导地位。没有明显的性别差异，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同。尽管健康状况很突出，但并不是受访者接受测试的主要或唯一动机。至于公开分享数据的动机，86.05%的人表示希望了解自己的相关情况，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%)，并认为探索基因型和表型数据很有趣(75.51%)。尽管大多数受访者都清楚地意识到参与开放基因数据共享所带来的隐私风险，并认为直接的个人影响可能令人不安，但他们估计这种情况发生的风险可以忽略不计。我们的研究结果凸显了决定公开分享数据的 DTC-GT 消费者的多样性。我们的研究并没有专门关注基因检测和数据共享的健康相关方面，而是强调考虑超出健康范围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和多方面概念化的呼吁。
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.