Towards practical Genome-Wide Association Studies: Overview and Challenges

The popularization of large-scale federated Genome-Wide Association Study (GWAS) where multiple data owners share their genome data to conduct federated analytics uncovers new privacy issues that have remained unnoticed or not given proper attention. Indeed, as soon as a diverse type of interested parties (e.g., private or public biocenters and governmental institutions from around the globe) and individuals from heterogeneous populations are participating in cooperative studies, interdependent and multi-party privacy appear as crucial issues that are currently not adequately assessed. In fact, in federated GWAS environments, the privacy of individuals and parties does not depend solely on their own behavior anymore but also on others, because a collaborative environment opens new credible adversary models. For instance, one might want to tailor the privacy guarantees to withstand the presence of potentially colluding federation members aiming to violate other members’ data privacy and the privacy deterioration that might occur in the presence of interdependent genomic data (e.g., due to the presence of relatives in studies or the perpetuation of previous genomic privacy leaks in future studies). In this work, we catalog and discuss the features, unsolved problems, and challenges to tackle toward truly end-to-end private and practical federated GWAS.