New Guidelines for Clinical Homologous Recombination Deficiency Testing Published

The Association for Molecular Pathology has released comprehensive new guidelines for the development and implementation of homologous recombination deficiency (HRD) testing in clinical laboratories. These best practice recommendations aim to standardize procedures and improve the accuracy of HRD detection, which is crucial for personalized cancer therapy. The manuscript, titled "Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer," was published in The Journal of Molecular Diagnostics.

HRD testing plays an essential role in identifying tumors with impaired DNA repair mechanisms. Such tumors are often characterized by genomic instability and may respond favorably to targeted treatments like PARP inhibitors. Currently, different assays are available for HRD detection, but they vary in their biomarkers, algorithms, and definitions, potentially influencing treatment decisions.

To address these discrepancies, a dedicated expert panel reviewed current methodologies and literature, involving organizations such as the Association of Community Cancer Centers, the American Society of Clinical Oncology, and the College of American Pathologists. Led by Dr. Alanna J. Church, the panel identified significant variability across testing practices, including sample requirements, tumor types, and molecular techniques. The new guidelines provide evidence-based recommendations to enhance standardization, transparency, and quality in HRD testing.

Further, the American Molecular Pathology (AMP) HRD Working Group developed 12 specific recommendations concerning the design, validation, and interpretation of HRD assays. These are based on extensive survey data, literature review, and expert consensus, aiming to guide laboratories in technical aspects of HRD analysis and ensure clinical relevance.

Dr. Susan Hsiao, chair of the working group, emphasized that these guidelines are intended to direct clinical labs offering HRD testing and highlight the need for ongoing research and validation as scientific understanding advances. The ultimate goal is to improve diagnostic accuracy and patient outcomes through standardized, reliable HRD testing procedures.