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.
Highlights
Genomic research promises major advances in our understanding of health and disease
While most empirical research on personal genomics has focused on the attitudes of early Direct-To-Consumer genetic testing (DTC-GT) users, the present study aimed at shedding light on the characteristics and motivations of people who, having obtained their genetic or genomic data from a DTC-GT company, voluntarily decide to share them on a fully accessible platform like openSNP
Our study shows that individuals are still concerned about privacy protection, even if they decide to share their genetic and genomic data publicly
Summary
Genomic research promises major advances in our understanding of health and disease. In parallel, sharing genomic data offers encouraging prospects to accelerate research by generating information-rich genome datasets. Due to the diversity and fragmentation in health systems and medical databases, there is a lack of harmonization of data formats, processing, analysis and data transfer, which often leads to incompatibilities and lost opportunities for scientific advancement [2] This difficulty in sharing genetic data for research purposes is aggravated by the fact that despite much progress, genomic and clinical data are still generally collected and studied in silos: by disease, by institution and by states [3] international guidelines have facilitated sharing and generally take a proportional risk approach, many countries have put in place strict provisions guiding international sharing, and a few even prohibit it entirely [4]. While experts support rigorous oversight and assessments of inter-lab reproducibility, they caution that regulation should not pose an excessive administrative burden on academic and smaller diagnostic laboratories that are already saddled with burgeoning research expenses [5]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
