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Privacy challenges and research opportunities for genomic data sharing


The sharing of genomic data holds great promise in advancing precision medicine and providing personalized treatments and other types of interventions. However, these opportunities come with privacy concerns, and data misuse could potentially lead to privacy infringement for individuals and their blood relatives. With the rapid growth and increased availability of genomic datasets, understanding the current genome privacy landscape and identifying the challenges in developing effective privacy-protecting solutions are imperative. In this work, we provide an overview of major privacy threats identified by the research community and examine the privacy challenges in the context of emerging direct-to-consumer genetic-testing applications. We additionally present general privacy-protection techniques for genomic data sharing and their potential applications in direct-to-consumer genomic testing and forensic analyses. Finally, we discuss limitations in current privacy-protection methods, highlight possible mitigation strategies and suggest future research opportunities for advancing genomic data sharing.

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Fig. 1: Taxonomy of known privacy attacks in genomic data sharing.
Fig. 2: Membership disclosure attack by Homer et al.10, in which an adversary aims at determining the presence of the target in the mixture (for example, case group).
Fig. 3: Genetic genealogy search framework for forensics analysis.


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This work was supported by National Human Genome Research Institute grant K99HG010493 to L.B., National Institute of General Medical Sciences grant R01GM118609 and National Heart, Lung, and Blood Institute grant R01HL136835 to L.O.-M.

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L.B. conducted the literature review, drafted the organization of the article and contributed most the writing. Y.H. contributed to the sections on data sharing in DTC genetic testing and provided helpful comments on the presentation. L.O.-M. provided the motivation for this work, and provided detailed edits and critical suggestions on the organization and structure of the article.

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Correspondence to Luca Bonomi.

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Bonomi, L., Huang, Y. & Ohno-Machado, L. Privacy challenges and research opportunities for genomic data sharing. Nat Genet 52, 646–654 (2020).

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