 How to determine HRD status?
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
The study highlights the promising value of GSS in identifying patients who may respond favorably to PARPi treatment.
White Paper
1. Comparative Analysis of HRD Complete Data on MGI DNBSEQ-G50 and NextSeq 550
 
The study confirms that the AmoyDx® HRD Complete Panel performs exceptionally well on both MGI G50 and NextSeq 550 platforms. The MGI G50 demonstrated superior sequencing quality and data QC performance while maintaining comparable accuracy in SNVs/InDels and HDs detection as well as HRD (GSS) assessment. These findings validate MGI G50 as a robust and reliable platform for HRR gene mutation screening and HRD (GSS) status analysis.Mutations( Hover over each mutational type to highlight genes covered )
All
                                         
                                ATM
                                            
                                                ATM
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    BARD1
                                            
                                                BARD1
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    BRCA1
                                            
                                                BRCA1
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    BRCA2
                                            
                                                BRCA2
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    BRIP1
                                            
                                                BRIP1
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    CDH1
                                            
                                                CDH1
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    CDK12
                                            
                                                CDK12
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    CHEK1
                                            
                                                CHEK1
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    CHEK2
                                            
                                                CHEK2
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    FANCA
                                            
                                                FANCA
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    FANCL
                                            
                                                FANCL
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    HDAC2
                                            
                                                HDAC2
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    PALB2
                                            
                                                PALB2
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    PPP2R2A
                                            
                                                PPP2R2A
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    PTEN
                                            
                                                PTEN
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    RAD51B
                                            
                                                RAD51B
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    RAD51C
                                            
                                                RAD51C
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    RAD51D
                                            
                                                RAD51D
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    RAD54L
                                            
                                                RAD54L
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                    TP53
                                            
                                                TP53
                                                            
                                                            HD
                                                        
                                                                                                            
                                                            
                                                            SNV/INDELS
                                                        
                                                                                                     
                        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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