The Association for Molecular Pathology recently released a set of best practice recommendations for clinical laboratories involved in homologous recombination deficiency (HRD) testing. This publication, titled “Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer,” was a collaborative effort involving the Association of Molecular Pathology, Association of Cancer Care Centers, and College of American Pathologists. The recommendations were published in The Journal of Molecular Diagnostics.
HRD testing plays a crucial role in identifying tumors that have impaired DNA repair mechanisms through the homologous recombination repair pathway. This deficiency often leads to increased genomic instability and can serve as a valuable biomarker for predicting the response to certain cancer therapies.
Currently, there are several HRD assays available, each with its own criteria for defining HRD, biomarkers assessed, and algorithms used. These differences can have significant implications for treatment decisions, particularly for patients who might benefit from therapies involving poly (ADP-ribose) polymerase (PARP) inhibitors.
To develop these recommendations, the AMP’s Clinical Practice Committee formed an expert panel to review existing practices and analyze relevant medical literature on the molecular detection of HRD in clinical settings. The AMP Detection of HRD in Cancer Working Group included representatives from various organizations, such as the Association of Community Cancer Centers, the American Society of Clinical Oncology, and the College of American Pathologists.
Dr. Alanna J. Church, Chair of AMP’s 2025 Clinical Practice Committee, emphasized the need for standardization and quality improvement in HRD testing across laboratories. She highlighted the variability in sample requirements, molecular methodologies, and biomarkers evaluated in current HRD testing practices. The newly published report aims to provide evidence-based recommendations for HRD diagnostic assays to enhance transparency and consistency in patient care.
The AMP HRD Working Group outlined 12 recommendations focusing on the design and validation of HRD assays. These guidelines were developed based on survey data, extensive literature review, expert consensus, and professional experience. They address technical aspects of genomic instability and HRD analysis, including the interpretation of genomic scars from tumor and germline next-generation sequencing results, as well as the clinical significance of HRD biomarkers.
Dr. Susan Hsiao, Chair of the AMP Detection of HRD in Cancer Working Group, highlighted the intention behind these recommendations – to guide clinical laboratories offering HRD testing and identify areas for further research and validation. The AMP is committed to refining these recommendations as scientific knowledge and technology progress.
For more information on the recommendations for clinical molecular laboratories for the detection of homologous recombination deficiency in cancer, refer to the publication in The Journal of Molecular Diagnostics. The document provides valuable insights into HRD testing practices and their implications for cancer care.
This article was originally published by the Association for Molecular Pathology and serves as a comprehensive guide for healthcare professionals involved in HRD testing. Stay updated with the latest advancements in cancer diagnostics and treatment by following the AMP’s recommendations for clinical molecular laboratories.
