Mechanisms to protect the privacy of families when using the transmission disequilibrium test in genome-wide association studies

摘要

MotivationInappropriate disclosure of human genomes may put the privacy of study subjects and of their family members at risk. Existing privacy-preserving mechanisms for Genome-Wide Association Studies (GWAS) mainly focus on protecting individual information in case–control studies. Protecting privacy in family-based studies is more difficult. The transmission disequilibrium test (TDT) is a powerful family-based association test employed in many rare disease studies. It gathers information about families (most frequently involving parents, affected children and their siblings). It is important to develop privacy-preserving approaches to disclose TDT statistics with a guarantee that the risk of family ‘re-identification’ stays below a pre-specified risk threshold. ‘Re-identification’ in this context means that an attacker can infer that the presence of a family in a study.