How to determine HRD status?
When the homologous recombination (HR) pathway is disrupted by gene mutations, promoter methylation, or undetermined causes, the HR pathway stops working, leading to Homologous Recombination Deficiency (HRD).
Tumors with HRD cannot repair themselves effectively after sustaining damage, contributing to genomic instability. There are limitations to determining HRD status when evaluating each 'cause'/ cause individually. Evaluating genomic instability allows for the assessment of HRD regardless of the specific cause.
HRD status can be measured by “cause” through mutations in the HRR pathway (e.g., BRCA1 and BRCA2) and by the “effect” of the presence of genomic scars at a given threshold or functional assay. HRD testing can identify 30% more PARPi-effective population than BRCA testing. (BRCA~20% vs. HRD~50%)
AmoyDx® HRD Complete Panel offers a comprehensive homologous recombination deficiency (HRD) test designed to simultaneously detect genetic abberations across 20 HRR genes and HRD status.
Comprehensively Designed GSS Algorithm
The AmoyDx proprietary GSS algorithm is a machine learning-based model which assesses genomic instability by analyzing different types of copy number events across the genome.
Longer PFS with PARPi Treatment for GSS-positive Group
The study highlights the promising value of GSS in identifying patients who may respond favorably to PARPi treatment.
Fast turnaroud time within
3 days
Cost- effective
Streamlined one-tube workflow
Secure data analysis and interpretation
Specifications
Alterations detected
20 HRR genes (SNV/InDel/HD) and Genomic Scar Score (GSS)
Sample type
FFPE tissue
DNA input
Optimal 100 ng (minimum 50 ng)
Data output per sample
4 Gb
Sequencing type
PE150
Sequencer
Illumina NextSeq 500/550, NovaSeq 6000
TAT for library preparation
5 hours (hands-on time <1 hour)
TAT from sample to report
3 days
Publications
1. Feng, Cong et al. Relationship between homologous recombination deficiency and clinical features of breast cancer based on genomic scar score. The Breast, Volume 69, 392 - 400.
2. Yuan W, Ni J, Wen H, Shi W, Chen X, Huang H, et al. Genomic Scar Score: A robust model predicting homologous recombination deficiency based on genomic instability. BJOG. 2022; 129(Suppl. 2): 14–22.
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