Christinat Yann, Hamelin Baptiste, Alborelli Ilaria, Angelino Paolo, Barbié Valérie, Bisig Bettina, Dawson Heather, Frattini Milo, Grob Tobias, Jochum Wolfram, Nienhold Ronny, McKee Thomas, Matter Matthias, Missiaglia Edoardo, Molinari Francesca, Rothschild Sacha, Sobottka-Brillout Anna Bettina, Vassella Erik, Zoche Martin, Mertz Kirsten D
Clinical Pathology Division, Geneva University Hospitals, Geneva, Switzerland.
Institute of Medical Genetics and Pathology, Universitätsspital Basel, Basel, Switzerland.
Virchows Arch. 2024 Dec;485(6):1033-1039. doi: 10.1007/s00428-024-03951-0. Epub 2024 Oct 23.
Somatic variant testing through next-generation sequencing (NGS) is well integrated into Swiss molecular pathology laboratories and has become a standard diagnostic method for numerous indications in cancer patient care. Currently, there is a wide variation in reporting practices within our country, and as patients move between different hospitals, it is increasingly necessary to standardize NGS reports to ease their reinterpretation. Additionally, as many different stakeholders-oncologists, hematologists, geneticists, pathologists, and patients-have access to the NGS report, it needs to contain comprehensive and detailed information in order to answer the questions of experts and avoid misinterpretation by non-experts. In 2017, the Swiss Institute of Bioinformatics conducted a survey to assess the differences in NGS reporting practices across ten pathology institutes in Switzerland. The survey examined 68 reporting items and identified 48 discrepancies. Based on these findings, the Swiss Society of Molecular Pathology initiated a Delphi method to reach a consensus on a set of recommendations for NGS reporting. Reports should include clinical information about the patient and the diagnosis, technical details about the sample and the test performed, and a list of all clinically relevant variants and variants of uncertain significance. In the absence of a consensus on an actionability scheme, the five-class pathogenicity scheme proposed by the ACMG/AMP guideline must be included in the reports. The Swiss Society of Molecular Pathology recognizes the importance of including clinical actionability in the report and calls on the European community of molecular pathologists and oncologists to reach a consensus on this issue.
通过下一代测序(NGS)进行的体细胞变异检测已很好地融入瑞士分子病理学实验室,并已成为癌症患者护理中众多适应症的标准诊断方法。目前,我国报告实践存在很大差异,随着患者在不同医院之间转诊,越来越有必要规范NGS报告,以便于重新解读。此外,由于许多不同的利益相关者——肿瘤学家、血液学家、遗传学家、病理学家和患者——都可以获取NGS报告,报告需要包含全面而详细的信息,以回答专家的问题并避免非专家的误解。2017年,瑞士生物信息学研究所进行了一项调查,以评估瑞士十个病理研究所NGS报告实践的差异。该调查检查了68个报告项目,发现了48个差异。基于这些发现,瑞士分子病理学会启动了德尔菲法,就一套NGS报告建议达成共识。报告应包括患者的临床信息和诊断、样本及所进行检测的技术细节,以及所有临床相关变异和意义未明变异的列表。在缺乏关于可操作性方案共识的情况下,报告必须包括美国医学遗传学与基因组学学会/分子病理学协会(ACMG/AMP)指南提出的五级致病性方案。瑞士分子病理学会认识到在报告中纳入临床可操作性的重要性,并呼吁欧洲分子病理学家和肿瘤学家群体就此问题达成共识。