为基因组医学建立证据并衡量临床结果。
Building evidence and measuring clinical outcomes for genomic medicine.
机构信息
Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.
出版信息
Lancet. 2019 Aug 17;394(10198):604-610. doi: 10.1016/S0140-6736(19)31278-4. Epub 2019 Aug 5.
Abstract
Human genomic sequencing has potential diagnostic, prognostic, and therapeutic value across a wide breadth of clinical disciplines. One barrier to widespread adoption is the paucity of evidence for improved outcomes in patients who do not already have an indication for more focused testing. In this Series paper, we review clinical outcome studies in genomic medicine and discuss the important features and key challenges to building evidence for next generation sequencing in the context of routine patient care.
摘要
人类基因组测序在广泛的临床学科中具有潜在的诊断、预后和治疗价值。广泛采用的一个障碍是，对于那些已经没有更有针对性的检测指征的患者，缺乏改善预后的证据。在本系列论文中，我们回顾了基因组医学中的临床结果研究，并讨论了在常规患者护理背景下建立下一代测序证据的重要特征和关键挑战。
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本文引用的文献
1
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.依基因型召回和级联筛查法在爱沙尼亚人群生物库中检测家族性高胆固醇血症
Genet Med. 2019 May;21(5):1173-1180. doi: 10.1038/s41436-018-0311-2. Epub 2018 Oct 1.
2
Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.对遗传性癌症风险的亲属进行级联遗传检测：在线倡议的结果。
J Natl Cancer Inst. 2019 Jan 1;111(1):95-98. doi: 10.1093/jnci/djy147.
3
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.全基因组多基因疾病风险评分可识别出与单基因突变风险相当的个体。
Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13.
4
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.基于基因组的医疗模式：在大型研究队列中向参与者及其医疗保健提供者返还次要的基因组研究结果。
Am J Hum Genet. 2018 Sep 6;103(3):328-337. doi: 10.1016/j.ajhg.2018.07.009. Epub 2018 Aug 9.
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