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.

基因组数据的共享在推进精准医学、提供个性化治疗和其他类型的干预措施方面具有巨大的前景。然而，这些机会伴随着隐私问题，数据滥用可能会导致个人及其血亲的隐私受到侵犯。随着基因组数据集的快速增长和可用性的增加，了解当前的基因组隐私状况并确定开发有效的隐私保护解决方案的挑战势在必行。在这项工作中，我们概述了研究界发现的主要隐私威胁，并研究了新兴的直接面向消费者的基因测试应用程序中的隐私挑战。我们还介绍了基因组数据共享的一般隐私保护技术及其在直接面向消费者的基因组测试和法医分析中的潜在应用。最后，我们讨论了当前隐私保护方法的局限性，强调了可能的缓解策略，并提出了推进基因组数据共享的未来研究机会。