Li Yun R, Levine John E, Hakonarson Hakon, Keating Brendan J
1] Medical Scientist Training Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA [2] Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MI, USA.
Eur J Hum Genet. 2014 Jun;22(6):715-23. doi: 10.1038/ejhg.2013.247. Epub 2013 Nov 20.
Recent developments in second-generation sequencing (SGS) technologies provide an avenue for achieving rapid and accurate high-throughput analysis of human and microbial genomic diversity. SGS technologies have the potential to transform existing medical management of complex and life-threatening medical conditions by enabling clinicians to develop disease-targeted clinical care plans for each patient. In this review, we outline how innovative SGS-based approaches can improve the care of recipients of allogeneic hematopoietic cell transplantation (HCT), a life-saving procedure that carries a 1-year mortality risk of over 30%. We specifically evaluate foreseeable applications of SGS-based technology in facilitating rapid, phase-sensitive human leukocyte antigen (HLA) typing, assessment of non-HLA genomic compatibility, identifying patients at high risk for adverse drug reactions, and post-HCT monitoring for engraftment, minimal residual disease and infection. We conclude that innovative SGS approaches have the capacity to revolutionize the HCT recipient risk assessment process, support non-invasive clinical monitoring and improve patient outcomes, thereby setting the stage for a new era of genomically informed patient-centered medicine.
第二代测序（SGS）技术的最新进展为实现对人类和微生物基因组多样性的快速、准确的高通量分析提供了一条途径。SGS技术有可能通过使临床医生能够为每位患者制定针对疾病的临床护理计划，从而改变现有对复杂且危及生命的疾病的医疗管理方式。在本综述中，我们概述了基于SGS的创新方法如何改善异基因造血细胞移植（HCT）受者的护理，这是一种挽救生命的程序，其1年死亡率风险超过30%。我们特别评估了基于SGS技术在促进快速、阶段敏感的人类白细胞抗原（HLA）分型、非HLA基因组兼容性评估、识别药物不良反应高风险患者以及HCT后植入、微小残留病和感染监测方面的可预见应用。我们得出结论，创新的SGS方法有能力彻底改变HCT受者风险评估过程，支持非侵入性临床监测并改善患者预后，从而为以基因组信息为依据的以患者为中心的医学新时代奠定基础。
