Analyzing the Privacy and Societal Challenges Stemming from the Rise of Personal Genomic Testing

Progress in genomics is enabling researchers to better understand the role of the genome in our health and well-being, stimulating hope for more effective and cost efficient healthcare. At the same time, the rapid cost drop of genome sequencing has enabled the emergence of a booming market for direct-to-consumer (DTC) genetic testing. Nowadays, companies like 23andMe and AncestryDNA provide affordable health, genealogy, and ancestry reports, and have already tested tens of millions of customers. How- ever, while this technology has the potential to transform society by improving people’s lives, it also harbors dangers as it prompts important privacy and societal concerns. In this thesis, we shed light on these issues using a mixed-methods approach. We start by conducting a technical investigation of the limitations on privacy-enhancing technologies used for testing, storing, and sharing genomic data. We rely on a structured methodology to contextualize and provide a critical analysis of the current state-of-the-art and we identify and discuss ten open problems faced by the community. We then focus on the societal aspects of DTC genetic testing by conducting two large-scale analyses of the genetic testing discourse focusing on both mainstream and fringe social networks, specifically, Twitter, Reddit, and 4chan. Our analyses show that DTC genetic testing is a popular topic of discussion on all platforms. However, these discussions often include highly toxic language expressed through hateful and racist comments and openly antisemitic rhetoric, often conveyed through memes. Overall, our findings highlight that the rise in popularity of this new technology is accompanied by several societal implications that are unlikely to be addressed by only one research field and rather require a multi-disciplinary approach