'Genes wide open: Data sharing and the social gradient of genomic privacy ' by Tobias Haeusermann, Marta Fadda, Alessandro Blasimme, Bastian Greshake Tzovaras and Effy Vayena in (2018) 9(4)
AJOB Empirical Bioethics 207–221 comments
This study reports on 13 semistructured in-depth interviews to qualitatively explore the experiences of individuals who publicly shared their direct-to-consumer genetic testing results on the platform openSNP. In particular, we focused on interviewees’ understanding of privacy. Participants reported that the likelihood and the magnitude of privacy harms depend on gender, ethnicity, sexual orientation, the stigma associated with certain clinical conditions, the existence of adequate legislation, and the nature of national health care sys tems. Some participants expressed the view that those who enjoy higher socioeconomic status or are better protected by their country’s legislation have a responsibility to share their genetic data. Our study shows that people who share their genetic data publicly online—far from being insensitive to privacy risks—have a complex understanding of the social, relational, and contextual nature of genetic privacy.
The authors argue
Since the mid 2000s, direct-to-consumer genetic testing (DTC-GT) companies have made genetic informa tion available to private individuals outside of research or clinical settings. These companies claim that their services empower consumers with personal information to which they are entitled and that they are able to use for a variety of personal purposes — including, but not limited to, gaining better control over their health, learning about their ancestry, and contributing to the development of medical knowledge (Curnutte and Testa 2012). To date, DTC-GT companies have analyzed and stored genetic data from millions of individuals and represent a rapidly growing segment of the DNA testing industry (IBISWorld 2017; Kaiwar et al. 2017). DTC-GT companies such as 23andMe (23andme 2015) monetize only aggregate genomic data. Large pharmaceutical companies have bought access to such data sets. Collaborations on specific projects between these companies and academic researchers are also being reported.
Numerous concerns about the concept of DTC-GT have been debated in the literature and by regulators (Covolo et al. 2015; Hall et al. 2017), including, among others, lack of medical supervision and genetic counseling, inadequate informed consent, questionable analytic and clinical validity, risks of misdiagnosis and overdiagnosis, negative impacts on family members, and on public health (Badalato, Kalokairinou, and Borry 2017; Hogarth and Saukko 2017). As a consequence, DTC-GT has given rise to regulatory attempts at limiting the availability of such services (Borry, Cornel, and Howard 2010; Borry et al. 2012; Curnutte and Testa 2012). For instance, although 23andME (23andme 2018) previously offered tests on hundreds of gene variants, the Food and Drug Administration (FDA) first warned the company to cease offering such services, and then cleared it to market only 10 genetic tests revealing reliable, clinical-grade information about the risk of developing diseases (Curnutte 2017). Yet some scholars argue that DTC-GT offers important opportunities to exercise personal choice, cultivate autonomy, or attain other personal objectives (Chung and Ng 2016; Roberts et al. 2017; Vayena 2014).
What information should be available to consumers and how they will respond to information they receive are still matters of debate, but in most cases DTC-GT consumers have access to their raw data sequences. Consumers may thus choose to share their raw data with others or on online platforms such as openSNP, DNA.Land, and Open Humans. In principle, one of the most important benefits data sharing can bring to scientists is the availability of large data sets for the study of human disease (ACMGBoard of Directors 2017; Ball et al. 2014; Blasimme et al. 2018; Scudellari 2010; Vayena and Blasimme 2018). According to proponents of this model, openly sharing genomic data will allow researchers to uncover linkages across millions of samples and lead to tangible advances in medicine (van Schaik et al. 2014; Vayena et al. 2016). By advancing citizens’ active search for scientific knowledge and improving the public’s genetic literacy, proponents of open data sharing in genomics contend that an increased involvement in science for ordinary citizens might follow (Angrist 2009; Vayena 2014; Wicks, Vaughan, and Heywood 2014). Open sharing of genomic and phenotypic data, then, could not only serve as a primary research tool for science (Ball et al. 2014; Scudellari 2010), but also pave the way for participant-driven research initiatives (Swan, 2012; Woolley et al. 2016). Growing data-intensive research illustrates the need for and value of globally accessible data (Shabani, Knoppers, and Borry 2015). An investigation conducted by the DNAdigest identified four bottlenecks for data sharing, which include finding relevant and usable data (data discovery), obtaining authorization to access data, formatting data, and storing and moving data (van Schaik et al. 2014). According to open data sharing platforms, making DNA data publicly available may help researchers avoid these very bottlenecks.
However, the nature of genomic information and its possible uses and misuses create relevant privacy challenges. Single-nucleotide polymorphisms account for the vast majority of variation in the human genome (Wang et al. 1998) and have a determinant influence on an individual’s physical traits, disease risk, and capacity to respond to environmental factors (Sachidanandam et al. 2001). Since genetic data provide information on key characteristics of individuals, disclosure or misuse of data can lead to serious harm, ranging from embarrassment to stigmatization, abuse, and potential discrimination in employment, insurance, or education (Annas and Elias 2015; Wang et al. 2016). In the field of education, for instance, a child can be denied access to a school based on genetic information (Levenson 2016) or based on presumed correlations between genetic variants and cognitive performance (Haga 2009; Novas and Rose 2000; Nuffield Council on Bioethics 2002). An alleged case of genetic discrimination in education was reported in 2012, when a California public school district was accused of illegitimately denying attendance to a middle-school student based on the results of genetic screening tests for cystic fibrosis (CF) that he underwent as a newborn (Levenson 2016). The child’s parents claimed that the school inappropriately ordered the child to change schools following a complaint by the parents of two other students with CF who were concerned about the risk of cross-infection with bacteria particularly harmful to people with CF (Levenson 2016).
Given the relevance of such risks, privacy is critical for preventing the misuse of genetic information. Since a handful of genetic markers is sufficient to distinguish any two individual DNA sequences from one another (Collins and Mansoura 2001), genetic privacy is particularly difficult to ensure. Genetic privacy refers to the idea that everyone should enjoy protection of his or her genetic information from unauthorized collection, processing, use and distribution, and that certain uses of genomic data must be forbidden because they impact data subjects in ways that are considered unjust, unfair, or outright discriminatory (Annas and Elias 2015; Delgado, Lorente, and Naro 2017; Erlich et al. 2014; Gostin and Hodge 1999; McGonigle and Shomron 2016; Rothstein 1998; Shen and Ma 2017).
Given the likelihood that genetically related people share relevant DNA variants, genetic privacy has implications for family members as well as for individuals (Annas and Elias 2015). Protecting genetic privacy, then, is arguably more complex than safe-guarding other types of data. Moreover, some of the techniques usually employed to ensure data privacy are not entirely applicable to genomic data. Anonymization is a case in point. While it is theoretically possible to strip any genomic data set of all personally identifying information—thereby rendering the data anonymous—the combination of genetic variants on any individual human genome is unique to that individual. Gymrek and colleagues, for instance, showed that by crossing anonymized genomic information with publicly available data, any given genetic sequence can be reidentified (Gymrek et al. 2013). Also, the majority of current techniques to prevent unauthorized disclosure of genomic information limit what researchers can learn from the data (Enserink and Chin 2015). These issues create conspicuous privacy concerns regarding genomic data.
Despite the serious harms linked to the misuse of genetic data, some individuals decide to publicly share their genomic data, obtained through DTC-GT companies, on online platforms that offer no privacy protection and no ethical oversight mechanisms (Francis 2014; Vayena, Mastroianni, and Kahn 2012; Vayena and Tasioulas 2013a; 2013b). This article reports on the findings of a qualitative study of openSNP users, an online nonprofit platform financed through an ongoing crowdfunding campaign and managed by a small group of volunteers. OpenSNP allows individuals to upload their DTC-GT results along with phenotypic annotations about themselves (Vayena 2014). As a result, genomic and phenotypic data are freely and publicly accessible, thus granting unrestricted access to any third party. A previous study analyzed individuals’ motivations for being tested and sharing the results online (Haeusermann et al. 2017). Here, we focus more specifically on how individuals who share their genomes in this way explain their experience with openness and their attitudes toward privacy.
