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学术实验室基因组学组织(GOAL):学术病理学基因组学未来的愿景。

The Genomics Organization for Academic Laboratories (GOAL): A vision for a genomics future for academic pathology.

作者信息

Aisner Dara L, Gocke Christopher D, Jones Daniel, Limson Melvin, Morrissette Jennifer, Segal Jeremy P

机构信息

Department of Pathology, University of Colorado, Denver, CO, USA.

Department of Pathology, Johns Hopkins University, Baltimore, MD, USA.

出版信息

Acad Pathol. 2023 Aug 8;10(3):100090. doi: 10.1016/j.acpath.2023.100090. eCollection 2023 Jul-Sep.

DOI:10.1016/j.acpath.2023.100090
PMID:37583476
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10424130/
Abstract

Innovative and self-sustaining clinical genomics laboratories specializing in cutting-edge oncology testing are critical to the success of academic pathology departments and resident and fellow education in molecular pathology. However, the pressures and challenges facing these laboratories are numerous, including the complexities of validating comprehensive cancer next-generation sequencing (NGS) panels, competition from commercial laboratories, and the reimbursement and regulatory hurdles inherent in high-complexity testing. Cross-institutional collaborations, including shared assay content and interpretative frameworks, are a valuable element to academic laboratory success. To address these and other needs, the Genomics Organization for Academic Laboratories (GOAL) was conceived in 2018, incorporated in 2020 and has grown to include 29 participating institutions in 2022. Here, we describe the mission of GOAL, its structure, and the outcomes and projects undertaken in its first years.

摘要

专注于前沿肿瘤学检测的创新型和自我维持型临床基因组学实验室,对于学术病理科以及分子病理学住院医师和研究员教育的成功至关重要。然而,这些实验室面临着诸多压力和挑战,包括验证全面癌症二代测序(NGS) panel的复杂性、来自商业实验室的竞争以及高复杂性检测中固有的报销和监管障碍。跨机构合作,包括共享检测内容和解释框架,是学术实验室成功的重要因素。为满足这些及其他需求,学术实验室基因组学组织(GOAL)于2018年构想成立,2020年注册成立,到2022年已发展到包括29个参与机构。在此,我们描述了GOAL的使命、结构以及其成立头几年所取得的成果和开展的项目。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d209/10424130/e55411356d96/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d209/10424130/e55411356d96/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d209/10424130/e55411356d96/gr1.jpg

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Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project.肿瘤突变负荷(TMB)定量检测在诊断平台上的一致性:癌症研究之友 TMB 标准化项目第二阶段。
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