CONGRESS: 22–25 SEPTEMBER 2025
Homologous recombination deficiency (HRD): Significance and clinical implications Dr Katya Mokretar Synnovis Analytics
Homologous recombination deficiency (HRD) has emerged as a critical biomarker in oncology, reflecting defects in the DNA repair pathway that contribute to genomic instability, cancer development, and treatment response. Homologous recombination deficiency is particularly significant in cancers such as ovarian, breast, prostate, and pancreatic, where targeted therapies, such as PARP inhibitors, have shown clinical benefit. In practice, several methodologies and technologies are available to assess HRD status, with varying sensitivity and specificity. The National Genomic Test Directory (NGTD) mandates HRD testing across all Genomic Laboratory Hubs in England. The South East GLH undertook an extensive validation process for a newly implemented, comprehensive next- generation sequencing (NGS) panel. Comparative analysis with orthogonal assays and whole genome sequencing demonstrated acceptable concordance levels, supporting its clinical adoption. Crucially, assessment of HRD status beyond BRCA1/2 mutations is now pivotal for prescribing PARP inhibitors in ovarian and prostate cancers within England.
The talk will also address mechanisms of resistance to PARP inhibitors, an emerging challenge in clinical practice, and discuss how advancements in HRD testing may refine patient selection and guide future treatment strategies.
Reticulocyte haemoglobin EQA programme: Two years and still counting
Dr Barbara De la Salle President, UK NEQAS
Established parameters for the investigation of suspected iron deficiency (eg ferritin, transferrin saturation, haemoglobin and red cell indices) have recognised limitations due to confounding factors that affect their sensitivity and specificity. Reticulocyte Haemoglobin Content (RHC) is considered a reliable, early biomarker of iron deficiency or iron restriction, which also demonstrates a response to iron therapy and is recommended for the diagnosis and management of iron deficiency in chronic kidney disease. RHC parameters are offered on all major automated haematology
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analyser platforms, although they vary in their methodologies and nomenclature. UK NEQAS Haematology has developed an EQA programme for the performance assessment of analysers providing this parameter.
The first steps in the programme development were to identify a stable and effective survey material, followed by the scaling up of the production process to accommodate all the laboratories interested in participation. Four full RHC EQA distributions have been made in 2023-2024, with results returned from between 157 and 212 instruments in the UK. The main instrument groups are Sysmex XN10 and XN20 (reporting Ret- He), Abbott Alinity hq (reporting MCHr) and Siemens Advia 2120i (reporting CHr). The samples distributed have been from normal blood donors and consented patients undergoing therapeutic
venesection, with varying degrees of iron deficiency. The surveys have shown consistent inter method differences, although the results returned by all platforms are consistent with the clinical case details.
This new EQA programme provides
a picture of the state of the art in reticulocyte haemoglobin concentration performance, which will support the use of RHC as part of the repertoire of tests for the identification of iron deficiency.
Full programme details and the latest additions are available on the IBMS Congress website. A further brief preview of the scientific programme, alphabetically from immunology to virology, will appear in the August issue of Pathology in Practice.
www.ibms.org/congress
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