Department of Biomedical Informatics, Columbia University, New York, NY, USA; email:
New York Genome Center, New York, NY, USA.
Annu Rev Biomed Data Sci. 2022 Aug 10;5:163-181. doi: 10.1146/annurev-biodatasci-122120-021311. Epub 2022 May 4.
Genomics data are important for advancing biomedical research, improving clinical care, and informing other disciplines such as forensics and genealogy. However, privacy concerns arise when genomic data are shared. In particular, the identifying nature of genetic information, its direct relationship to health status, and the potential financial harm and stigmatization posed to individuals and their blood relatives call for a survey of the privacy issues related to sharing genetic and related data and potential solutions to overcome these issues. In this work, we provide an overview of the importance of genomic privacy, the information gleaned from genomics data, the sources of potential private information leakages in genomics, and ways to preserve privacy while utilizing the genetic information in research. We discuss the relationship between trust in the scientific community and protecting privacy, illuminating a future roadmap for data sharing and study participation.
基因组学数据对于推进生物医学研究、改善临床护理以及为法医学和家谱学等其他学科提供信息都非常重要。然而，当基因组数据被共享时，就会产生隐私问题。特别是，遗传信息的识别性质、它与健康状况的直接关系，以及对个人及其血缘亲属造成的潜在经济伤害和污名化，都需要对与共享遗传和相关数据相关的隐私问题以及克服这些问题的潜在解决方案进行调查。在这项工作中，我们概述了基因组隐私的重要性、从基因组数据中获取的信息、基因组学中潜在的私人信息泄露源，以及在研究中利用遗传信息的同时保护隐私的方法。我们讨论了信任科学界与保护隐私之间的关系，为数据共享和研究参与指明了未来的路线图。
