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.
Lancet. 2019 Aug 17;394(10198):604-610. doi: 10.1016/S0140-6736(19)31278-4. Epub 2019 Aug 5.
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.
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。
