NEW YORK – The Association for Molecular Pathology on Tuesday published best practice recommendations for the design and validation of clinical tests for homologous recombination deficiency.

纽约——分子病理学协会周二发布了关于同源重组缺陷临床检测的设计与验证的最佳实践建议。

The recommendations

建议

were published

已发布

in the

在

Journal of Molecular Diagnostics

分子诊断学杂志

and encompass sample considerations, assay design, and reporting.

并涵盖样本考量、检测设计和报告。

The AMP Detection of HRD in Cancer Working Group was convened in 2020 and included experts from AMP, the Association of Community Cancer Centers, the American Society of Clinical Oncology and the College of American Pathologists. To develop the recommendations, the expert panel reviewed current practices and assessed medical literature related to the molecular detection of HRD in clinical settings, AMP said in a statement accompanying the publication of the recommendations.

癌症中的HRD AMP检测工作组于2020年成立，成员包括来自AMP、社区癌症中心协会、美国临床肿瘤学会和美国病理学家学院的专家。AMP在发布这些建议的声明中表示，为制定这些建议，专家小组审查了当前的实践，并评估了与临床环境中HRD分子检测相关的医学文献。

.

。

HRD testing is intended to identify tumors that cannot effectively repair DNA damage through the homologous recombination repair pathway, a deficiency that may serve as a biomarker for predicting response to certain cancer therapies. However, currently available HRD assays differ in their definitions of HRD, the biomarkers they test for, and the algorithms they use, AMP said, adding those differences may impact treatment decisions.

HRD测试旨在识别无法通过同源重组修复途径有效修复DNA损伤的肿瘤，这种缺陷可能作为预测某些癌症治疗反应的生物标志物。然而，AMP表示，目前可用的HRD检测在HRD的定义、所检测的生物标志物以及使用的算法上存在差异，并补充称这些差异可能会影响治疗决策。

.

。

'As part of our assessment, we identified considerable variability in many aspects of HRD testing, including sample requirements, tumor types, molecular methodologies and the biomarkers evaluated,' Alanna Church, chair of AMP’s 2025 Clinical Practice Committee and associate director of the Laboratory for Molecular Pediatric Pathology at Dana-Farber/Boston Children’s Cancer Center Church, said in a statement.

“作为我们评估的一部分，我们发现HRD检测的许多方面存在相当大的差异，包括样本要求、肿瘤类型、分子方法学以及所评估的生物标志物，”AMP 2025临床实践委员会主席、丹娜法伯/波士顿儿童癌症中心分子儿科病理实验室副主任阿拉娜·丘奇在一份声明中表示。

'This new report offers evidence-based recommendations for HRD diagnostic assays to help improve standardization, transparency, quality across laboratories and care for our cancer patients.'.

“这份新报告为HRD诊断检测提供了基于证据的建议，以帮助提高实验室间的标准化、透明度、质量以及我们癌症患者的护理水平。”

The guidelines developed by the working group are based on survey data, a review of more than 4,300 peer-reviewed scientific publications, professional experience, and consensus of the subject matter experts.

工作组制定的指南基于调查数据、对4300多篇同行评审科学出版物的回顾、专业经验以及主题专家的共识。

The panel examined components of existing and proposed HRD and genomic instability biomarkers, such as mutational signatures, loss of heterozygosity, mutations in homologous recombination repair–associated genes, and epigenetic silencing of RAD51C, BRCA1, or BRCA2, as well as technical considerations for identifying genomic scars from tumor and germline next-generation sequencing results.

专家组审查了现有和拟议的HRD（同源重组缺陷）及基因组不稳定性生物标志物的组成部分，例如突变特征、杂合性缺失、同源重组修复相关基因的突变，以及RAD51C、BRCA1或BRCA2的表观遗传沉默，并探讨了从肿瘤和种系下一代测序结果中识别基因组瘢痕的技术考量。

The panel also looked at guidelines on interpretation and caveats when reporting assessments of genomic instability and HRD scores and the clinical significance of HRD..

该小组还审查了在报告基因组不稳定性和 HRD 评分以及 HRD 的临床意义时的解释指南和注意事项。

The recommendations include guidance on what labs should document in their validation reports, what kinds of samples should be included in the validation, what kinds of analysis should be performed, and what information should be included in the clinical report.

建议包括实验室应在验证报告中记录哪些内容、验证应包含哪些种类的样本、应进行哪些种类的分析，以及临床报告中应包含哪些信息的指导。

'These recommendations are intended to guide clinical laboratories offering HRD testing and highlight areas where further research and validation are needed,' Susan Hsiao, chair of the working group and associate professor of pathology and cell biology at Columbia University Vagelos College of Physicians and Surgeons, said in a statement.

“这些建议旨在指导提供HRD检测的临床实验室，并强调需要进一步研究和验证的领域，”工作组主席、哥伦比亚大学瓦格洛斯内科与外科医学院病理学与细胞生物学副教授苏珊·萧在一份声明中表示。

'AMP remains committed to refining these recommendations as scientific knowledge and technology continue to evolve.'.

“随着科学知识和技术的不断发展，AMP仍致力于完善这些建议。”