■2024年,大韩民国的医学研究人员应邀修订了卫生和医学数据利用指南(政府出版物注册号:11-1352000-0052828-14)。本研究旨在显示指南修订的总体影响,专注于临床基因组数据。
■这项研究通过卫生和福利部领导的一项联合研究,修改了先前版本中定义的基因组数据的假名化,韩国健康信息服务,和韩国基因组组织。为了开发以前的版本,我们与四个主要的医学研究所和七个学术团体举行了三次会议。我们针对学术界的特殊基因组专家进行了两项调查,工业,和机构。
■我们发现,在基因组数据的应用中,假名化的情况很少见,并且在先前版本的指南中使用的术语存在歧义。大多数专家(>〜90%)同意应消除“保留”条件,以在假名化后提供基因组数据。在这项研究中,基因组数据的范围被定义为临床下一代测序数据,包括FASTQ,BAM/SAM,VCF,和医疗记录。伪名化针对基因组序列和元数据,嵌入特定元素,例如种系突变,短串联重复,单核苷酸多态性,和可识别的数据(例如,ID或环境值)。从多组学产生的表达数据可以在没有假名化的情况下使用。
■该修正案不仅将增强医疗保健数据的安全使用,还将促进疾病预防方面的进步。诊断,和治疗。
UNASSIGNED: In 2024, medical researchers in the Republic of Korea were invited to amend the health and medical data utilization guidelines (Government Publications Registration Number: 11-1352000-0052828-14). This study aimed to show the overall impact of the guideline revision, with a focus on clinical genomic data.
UNASSIGNED: This study amended the pseudonymization of genomic data defined in the previous version through a joint study led by the Ministry of Health and Welfare, the Korea Health Information Service, and the Korea Genome Organization. To develop the previous version, we held three conferences with four main medical research institutes and seven academic societies. We conducted two surveys targeting special genome experts in academia, industry, and institutes.
UNASSIGNED: We found that cases of pseudonymization in the application of genome data were rare and that there was ambiguity in the terminology used in the previous version of the guidelines. Most experts (> ~90%) agreed that the \'reserved\' condition should be eliminated to make genomic data available after pseudonymization. In this study, the scope of genomic data was defined as clinical next generation sequencing data, including FASTQ, BAM/SAM, VCF, and medical records. Pseudonymization targets genomic sequences and metadata, embedding specific elements, such as germline mutations, short tandem repeats, single-nucleotide polymorphisms, and identifiable data (for example, ID or environmental values). Expression data generated from multi-omics can be used without pseudonymization.
UNASSIGNED: This amendment will not only enhance the safe use of healthcare data but also promote advancements in disease prevention, diagnosis, and treatment.