A new way to protect privacy in large-scale genome-wide association studies.

MOTIVATION: Increased availability of various genotyping techniques has initiated a race for finding genetic markers that can be used in diagnostics and personalized medicine. Although many genetic risk factors are known, key causes of common diseases with complex heritage patterns are still unknown. Identification of such complex traits requires a targeted study over a large collection of data. Ideally, such studies bring together data from many biobanks. However, data aggregation on such a large scale raises many privacy issues. RESULTS: We show how to conduct such studies without violating privacy of individual donors and without leaking the data to third parties. The presented solution has provable security guarantees. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Privacy-friendly evaluation of patient data with secure multiparty computation in a European pilot study.

In multicentric studies, data sharing between institutions might negatively impact patient privacy or data security. An alternative is federated analysis by secure multiparty computation. This pilot study demonstrates an architecture and implementation addressing both technical challenges and legal difficulties in the particularly demanding setting of clinical research on cancer patients within the strict European regulation on patient privacy and data protection: 24 patients from LMU University Hospital in Munich, Germany, and 24 patients from Policlinico Universitario Fondazione Agostino Gemelli, Rome, Italy, were treated for adrenal gland metastasis with typically 40 Gy in 3 or 5 fractions of online-adaptive radiotherapy guided by real-time MR. High local control (21% complete remission, 27% partial remission, 40% stable disease) and low toxicity (73% reporting no toxicity) were observed. Median overall survival was 19 months. Federated analysis was found to improve clinical science through privacy-friendly evaluation of patient data in the European health data space.

Toward a Common Performance and Effectiveness Terminology for Digital Proximity Tracing Applications.

Digital proximity tracing (DPT) for Sars-CoV-2 pandemic mitigation is a complex intervention with the primary goal to notify app users about possible risk exposures to infected persons. DPT not only relies on the technical functioning of the proximity tracing application and its backend server, but also on seamless integration of health system processes such as laboratory testing, communication of results (and their validation), generation of notification codes, manual contact tracing, and management of app-notified users. Policymakers and DPT operators need to know whether their system works as expected in terms of speed or yield (performance) and whether DPT is making an effective contribution to pandemic mitigation (also in comparison to and beyond established mitigation measures, particularly manual contact tracing). Thereby, performance and effectiveness are not to be confused. Not only are there conceptual differences but also diverse data requirements. For example, comparative effectiveness measures may require information generated outside the DPT system, e.g., from manual contact tracing. This article describes differences between performance and effectiveness measures and attempts to develop a terminology and classification system for DPT evaluation. We discuss key aspects for critical assessments of whether the integration of additional data measurements into DPT apps may facilitate understanding of performance and effectiveness of planned and deployed DPT apps. Therefore, the terminology and a classification system may offer some guidance to DPT system operators regarding which measurements to prioritize. DPT developers and operators may also make conscious decisions to integrate measures for epidemic monitoring but should be aware that this introduces a secondary purpose to DPT. Ultimately, the integration of further information (e.g., regarding exact exposure time) into DPT involves a trade-off between data granularity and linkage on the one hand, and privacy on the other. More data may lead to better epidemiological information but may also increase the privacy risks associated with the system, and thus decrease public DPT acceptance. Decision-makers should be aware of the trade-off and take it into account when planning and developing DPT systems or intending to assess the added value of DPT relative to the existing contact tracing systems.

Implementation and Evaluation of an Algorithm for Cryptographically Private Principal Component Analysis on Genomic Data.

We improve the quality of cryptographically privacy-preserving genome-wide association studies by correctly handling population stratification-the inherent genetic difference of patient groups, e.g., people with different ancestries. Our approach is to use principal component analysis to reduce the dimensionality of the problem so that we get less spurious correlations between traits of interest and certain positions in the genome. While this approach is commonplace in practical genomic analysis, it has not been used within a privacy-preserving setting. In this paper, we use cryptographically secure multi-party computation to tackle principal component analysis, and present an implementation and experimental results showing the performance of the approach.