Celeste Eno , Rama Sompallae , T. Niroshi Senaratne
{"title":"30. Current next generation sequencing reporting practices: A GOAL Consortium report","authors":"Celeste Eno , Rama Sompallae , T. Niroshi Senaratne","doi":"10.1016/j.cancergen.2024.08.032","DOIUrl":null,"url":null,"abstract":"<div><div>Molecular testing by next generation sequencing (NGS) panels are widely used for oncology specimens; however, the reporting of the results vary greatly across institutions. A 70-question survey was sent to member laboratories in the Genomics Organization for Academic Laboratories (GOAL) consortium to assess current reporting practices to assess the potential for standardization. GOAL is a non-profit organization with aims of cross-institutional collaborations, including shared assay content and interpretative frameworks, to allow for academic laboratory success. Each laboratory had the opportunity to fill out the survey for hematological and solid tumor-based panels or a combined survey for both types of tumors. A total of 28 surveys were received from 21 academic tertiary-care laboratories regarding NGS reporting practices. Only a few practices differed significantly between heme and solid tumor panels, including repeat testing. Most notably, the survey respondents noted the time and review process for testing was formidable, including review of previous results, care in reporting potential germline findings, and integrating other ancillary testing. Through these efforts, GOAL seeks to bridge the gap in result reporting, ultimately improving consistency and accuracy of NGS-based molecular testing for cancer. We anticipate the results of this study will help serve as a benchmark for clinical laboratories looking to compare practices with their peers and reveal potential areas for standardization or improvement of clinical reporting.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"286 ","pages":"Page S10"},"PeriodicalIF":1.4000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer Genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S221077622400070X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Molecular testing by next generation sequencing (NGS) panels are widely used for oncology specimens; however, the reporting of the results vary greatly across institutions. A 70-question survey was sent to member laboratories in the Genomics Organization for Academic Laboratories (GOAL) consortium to assess current reporting practices to assess the potential for standardization. GOAL is a non-profit organization with aims of cross-institutional collaborations, including shared assay content and interpretative frameworks, to allow for academic laboratory success. Each laboratory had the opportunity to fill out the survey for hematological and solid tumor-based panels or a combined survey for both types of tumors. A total of 28 surveys were received from 21 academic tertiary-care laboratories regarding NGS reporting practices. Only a few practices differed significantly between heme and solid tumor panels, including repeat testing. Most notably, the survey respondents noted the time and review process for testing was formidable, including review of previous results, care in reporting potential germline findings, and integrating other ancillary testing. Through these efforts, GOAL seeks to bridge the gap in result reporting, ultimately improving consistency and accuracy of NGS-based molecular testing for cancer. We anticipate the results of this study will help serve as a benchmark for clinical laboratories looking to compare practices with their peers and reveal potential areas for standardization or improvement of clinical reporting.
期刊介绍:
The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.