自从人类基因组首次测序以来的二十年里,随着下一代测序(NGS)技术的出现,临床基因组学经历了复兴.全基因组测序现在在临床环境中越来越多地可用,成本仅为人类基因组参考序列的一小部分。周转时间短至7-10天。临床遗传学为基础的管理已变得更易于处理,改善付款人的报销和增加的针对性治疗的可用性,尤其是在肿瘤学领域。癌症的精确诊断允许临床医生评估患者患癌症的风险,检测和分类肿瘤,预测预后,选择有针对性的治疗方法,并纵向监测患者的疾病负担。这种方法开创了预测和预防性肿瘤护理的新时代,可以根据个体患者的遗传学进行个性化治疗。病人的肿瘤,和他们的临床表现。在肿瘤学中,有包括国际癌症基因组联盟(ICGC)在内的全球合作努力,全基因组泛癌分析(PCAWG)和癌症基因组图谱(TCGA)已存档了数千个癌症基因组。与数据库合作,包括但不限于癌症分类变异与疾病风险(ClinVar等)和药物反应(PharmGKB等)的关联,体细胞和种系基因组变异的研究提供了关于癌症发展的丰富信息,进化,异质性,和治疗反应。尽管在定义所有可能的可操作基因组变体方面仍然存在许多挑战,我们有前所未有的机会获得对人类肿瘤疾病的机制和临床见解。
In the past two decades since the first sequencing of the human genome, clinical genomics has undergone a renaissance with the advent of next generation sequencing (NGS) technologies. Whole genome sequencing is now increasingly available in the clinical setting at a fraction of the cost of the human genome reference sequence, and with turnaround times as short as 7-10days. Clinical genetics-based management has become more tractable with improved payer reimbursement and increased availability of targeted therapies, especially in the oncology space. Precision diagnostics in cancer allow clinicians to assess a patient\'s risk of developing cancers, detect and classify tumors, predict prognoses, select targeted therapies when available, and monitor their patient\'s disease burden longitudinally. This approach ushers in a new era of predictive and preventive oncology care that can be personalized to the genetics of the individual patient, the patient\'s tumor, and their clinical presentation. Within oncology, there are global collaborative efforts including the International Cancer Genome Consortium (ICGC), Pan-Cancer Analysis of Whole Genomes (PCAWG) and The Cancer Genome Atlas (TCGA) that have archived thousands of cancer genomes. In collaboration with databases including but not limited to cancer cataloging variant association with disease risk (ClinVar and others) and drug responses (PharmGKB and others), the study of somatic and germline genomic variation provides a wealth of information on cancer development, evolution, heterogeneity, and treatment response. Although many challenges still exist for defining all possible actionable genomic variants, we have unprecedented opportunity to gain mechanistic and clinical insights into human neoplastic diseases.