Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.
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DOI：
10.1101/mcs.a002345
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发表时间：
2018-03
影响因子：
1.8
通讯作者：
Rehm HL
中科院分区：
文献类型：
--
作者：
Azzariti DR;Riggs ER;Niehaus A;Rodriguez LL;Ramos EM;Kattman B;Landrum MJ;Martin CL;Rehm HL
实验室、临床医生、研究人员和患者之间的数据共享对于基因组医学的改进和标准化至关重要；鼓励基因组数据共享 (GDS) 是美国国立卫生研究院 (NIH) 资助的临床基因组资源 (ClinGen) 的一项关键活动。 ClinGen 计划致力于评估基因和变异在精准医学和研究中的临床相关性。目前，来自上述各个利益相关者群体的数据均存储在 ClinVar 中，ClinVar 是一个公开的基因组变异及其与人类健康关系的存储库，由 NIH 国家生物技术信息中心托管。尽管 2014 年 NIH GDS 政策等政策明确规定了研究参与者广泛数据共享的知情同意书的要求，但对于通过临床测试获得的信息共享以推进知识而言适当的同意程度，尚无明确的指导。 ClinGen 与 ClinVar 和国家人类基因组研究所合作，根据 NIH GDS 政策和最新的共同规则，为临床实验室共享去识别的变异水平数据制定考虑要点。我们提出了来自解释的基因组变异的特定数据元素，这些数据元素适合在未征求患者直接同意时提交给 ClinVar，并描述了建议获得知情同意的情况。
Data sharing between laboratories, clinicians, researchers, and patients is essential for improvements and standardization in genomic medicine; encouraging genomic data sharing (GDS) is a key activity of the National Institutes of Health (NIH)-funded Clinical Genome Resource (ClinGen). The ClinGen initiative is dedicated to evaluating the clinical relevance of genes and variants for use in precision medicine and research. Currently, data originating from each of the aforementioned stakeholder groups is represented in ClinVar, a publicly available repository of genomic variation, and its relationship to human health hosted by the National Center for Biotechnology Information at the NIH. Although policies such as the 2014 NIH GDS policy are clear regarding the mandate for informed consent for broad data sharing from research participants, no clear guidance exists on the level of consent appropriate for the sharing of information obtained through clinical testing to advance knowledge. ClinGen has collaborated with ClinVar and the National Human Genome Research Institute to develop points to consider for clinical laboratories on sharing de-identified variant-level data in light of both the NIH GDS policy and the recent updates to the Common Rule. We propose specific data elements from interpreted genomic variants that are appropriate for submission to ClinVar when direct patient consent was not sought and describe situations in which obtaining informed consent is recommended.