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Privacy challenges and research opportunities for genomic data sharing

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NATURE GENETICS
卷 52, 期 7, 页码 646-654

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NATURE PORTFOLIO
DOI: 10.1038/s41588-020-0651-0

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  1. National Human Genome Research Institute [K99HG010493]
  2. National Institute of General Medical Sciences [R01GM118609]
  3. National Heart, Lung, and Blood Institute [R01HL136835]

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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. This review discusses major privacy threats relevant to collection and analysis of genomic data in the context of direct-to-consumer applications and provides suggestions for improving the design of privacy-protecting approaches.

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