Abstract：
Comprehensive genomic profiling is increasingly used to facilitate precision oncology based on molecular stratification. In addition to conventional tissue comprehensive genomic profiling, comprehensive genomic profiling of circulating tumor DNA has become widely utilized in cancer care owing on its advantages, including less invasiveness, rapid turnaround time, and capturing heterogeneity. However, circulating tumor DNA comprehensive genomic profiling has some limitations, mainly false negatives due to low levels of plasma circulating tumor deoxyribonucleic acid and false positives caused by clonal hematopoiesis. Nevertheless, no guidelines and recommendations fully address these issues. Here, an expert panel committee involving representatives from 12 Designated Core Hospitals for Cancer Genomic Medicine in Japan was organized to develop expert consensus recommendations for the use of circulating tumor deoxyribonucleic acid-based comprehensive genomic profiling. The aim was to generate guidelines for clinicians and allied healthcare professionals on the optimal use of the circulating tumor DNA assays in advanced solid tumors and to aid the design of future clinical trials that utilize and develop circulating tumor DNA assays to refine precision oncology. Fourteen clinical questions regarding circulating tumor deoxyribonucleic acid comprehensive genomic profiling including the timing of testing and considerations for interpreting results were established by searching and curating associated literatures, and corresponding recommendations were prepared based on the literature for each clinical question. Final consensus recommendations were developed by voting to determine the level of each recommendation by the Committee members.
摘要：
综合基因组分析越来越多地用于促进基于分子分层的精确肿瘤学。除了常规的组织综合基因组分析，循环肿瘤DNA的全面基因组分析由于其优势已广泛用于癌症治疗，包括更少的侵入性，快速的周转时间，并捕获异质性。然而,循环肿瘤DNA综合基因组谱分析有一定的局限性,主要是由于血浆循环肿瘤脱氧核糖核酸水平低引起的假阴性和克隆造血引起的假阳性。然而，没有准则和建议完全解决这些问题。这里,由日本12家癌症基因组医学指定核心医院的代表组成的专家小组委员会,为使用基于循环肿瘤脱氧核糖核酸的综合基因组谱分析制定了专家共识建议.目的是为临床医生和相关医疗保健专业人员制定有关在晚期实体瘤中最佳使用循环肿瘤DNA测定的指南，并帮助设计未来的临床试验，这些临床试验利用和开发循环肿瘤DNA测定以完善精确的肿瘤学。通过搜索和整理相关文献，建立了关于循环肿瘤脱氧核糖核酸综合基因组分析的14个临床问题，包括测试时间和解释结果的考虑因素。并根据文献为每个临床问题准备了相应的建议。最终协商一致建议是通过表决制定的，以确定委员会成员的每项建议的级别。
