Biblio

Since the first whole-genome sequencing, the biomedical research community has made significant steps towards a more precise, predictive and personalized medicine. Genomic data is nowadays widely considered privacy-sensitive and consequently protected by strict regulations and released only after careful consideration. Various additional types of biomedical data, however, are not shielded by any dedicated legal means and consequently disseminated much less thoughtfully. This in particular holds true for DNA methylation data as one of the most important and well-understood epigenetic element influencing human health. In this paper, we show that, in contrast to the aforementioned belief, releasing one's DNA methylation data causes privacy issues akin to releasing one's actual genome. We show that already a small subset of methylation regions influenced by genomic variants are sufficient to infer parts of someone's genome, and to further map this DNA methylation profile to the corresponding genome. Notably, we show that such re-identification is possible with 97.5% accuracy, relying on a dataset of more than 2500 genomes, and that we can reject all wrongly matched genomes using an appropriate statistical test. We provide means for countering this threat by proposing a novel cryptographic scheme for privately classifying tumors that enables a privacy-respecting medical diagnosis in a common clinical setting. The scheme relies on a combination of random forests and homomorphic encryption, and it is proven secure in the honest-but-curious model. We evaluate this scheme on real DNA methylation data, and show that we can keep the computational overhead to acceptable values for our application scenario.

Genetic data are important dataset utilised in genetic epidemiology to investigate biologically coded information within the human genome. Enormous research has been delved into in recent years in order to fully sequence and understand the genome. Personalised medicine, patient response to treatments and relationships between specific genes and certain characteristics such as phenotypes and diseases, are positive impacts of studying the genome, just to mention a few. The sensitivity, longevity and non-modifiable nature of genetic data make it even more interesting, consequently, the security and privacy for the storage and processing of genomic data beg for attention. A common activity carried out by geneticists is the association analysis between allele-allele, or even a genetic locus and a disease. We demonstrate the use of cryptographic techniques such as homomorphic encryption schemes and multiparty computations, how such analysis can be carried out in a privacy friendly manner. We compute a 3 × 3 contingency table, and then, genome analyses algorithms such as linkage disequilibrium (LD) measures, all on the encrypted domain. Our computation guarantees privacy of the genome data under our security settings, and provides up to 98.4% improvement, compared to an existing solution.