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对英国基因组学审查委员会的895名患者进行前瞻性分析。

Prospective analysis of 895 patients on a UK Genomics Review Board.

作者信息

Moore David Allan, Kushnir Marina, Mak Gabriel, Winter Helen, Curiel Teresa, Voskoboynik Mark, Moschetta Michele, Rozumna-Martynyuk Nataliya, Balbi Kevin, Bennett Philip, Forster Martin, Kulkarni Anjana, Haynes Debra, Swanton Charles, Arkenau Hendrik-Tobias

机构信息

Department of Pathology, University College London Cancer Institute, London, UK.

Sarah Cannon Molecular Diagnostics, London, UK.

出版信息

ESMO Open. 2019 Mar 21;4(2):e000469. doi: 10.1136/esmoopen-2018-000469. eCollection 2019.

Abstract

BACKGROUND

The increasing frequency and complexity of cancer genomic profiling represents a challenge for the oncology community. Results from next-generation sequencing-based clinical tests require expert review to determine their clinical relevance and to ensure patients are stratified appropriately to established therapies or clinical trials.

METHODS

The Sarah Cannon Research Institute UK/UCL Genomics Review Board (GRB) was established in 2014 and represents a multidisciplinary team with expertise in molecular oncology, clinical trials, clinical cancer genetics and molecular pathology. Prospective data from this board were collated.

RESULTS

To date, 895 patients have been reviewed by the GRB, of whom 180 (20%) were referred for clinical trial screening and 62 (7%) received trial therapy. For a further 106, a clinical trial recommendation was given.

CONCLUSIONS

Numerous challenges are faced in implementing a GRB, including the identification of potential germline variants, the interpretation of variants of uncertain significance and consideration of the technical limitations of pathology material when interpreting results. These challenges are likely to be encountered with increasing frequency in routine practice. This GRB experience provides a model for the multidisciplinary review of molecular profiling data and for the linking of molecular analysis to clinical trial networks.

摘要

背景

癌症基因组分析的频率和复杂性不断增加,这给肿瘤学界带来了挑战。基于新一代测序的临床试验结果需要专家评审,以确定其临床相关性,并确保患者被适当地分层到既定疗法或临床试验中。

方法

莎拉·坎农研究所英国/伦敦大学学院基因组学评审委员会(GRB)于2014年成立,是一个由分子肿瘤学、临床试验、临床癌症遗传学和分子病理学专家组成的多学科团队。整理了该委员会的前瞻性数据。

结果

迄今为止,GRB已评审了895例患者,其中180例(20%)被转诊进行临床试验筛查,62例(7%)接受了试验性治疗。另外,有106例获得了临床试验推荐。

结论

实施GRB面临诸多挑战,包括识别潜在的种系变异、解释意义不明确的变异以及在解释结果时考虑病理材料的技术局限性。在常规实践中,这些挑战可能会越来越频繁地出现。GRB的经验为分子分析数据的多学科评审以及将分子分析与临床试验网络相联系提供了一个范例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/addb/6557082/01805582d637/esmoopen-2018-000469f01.jpg

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