CHMP Recommends Approval of Opdivo® Plus Yervoy® for First-Line Treatment of MSI-H/dMMR Metastatic Colorectal Cancer

ADDF Invests $1.18M to Standardize p-tau217 Blood Tests for Alzheimer’s Diagnosis

GSK Reports Positive Interim Results for DREAMM-7 Trial of Blenrep in Multiple Myeloma

Molbio Diagnostics Invests $30 Million in OptraSCAN to Revolutionize Digital Pathology

BioNTech Acquires Chinese Oncology Firm Biotheus for $950M

The Care and Protection of Children Trust

CPCT Launches Groundbreaking Initiative to Provide Lifelong Free Treatment for Children with Spinal Muscular Atrophy (SMA) in Karnataka

Early Comprehensive Genomic Profiling Improves Cancer Treatment Outcomes, Study Shows

EMA Reverses Decision, Recommends Limited Approval for Eisai and Biogen’s Alzheimer’s Drug Leqembi

Exact Sciences Unveils Advances in Multi-Cancer Early Detection with Cancerguard™ Test

MSD and LaNova Medicines Enter Exclusive Global License Agreement for Novel Cancer Therapy, LM-299

Promising CAR T Cell Therapies from BMS and Cabaletta Bio Show Potential for Durable Remission in Severe Lupus

FDA Grants Accelerated Approval to PTC Therapeutics' KEBILIDI™, the First Gene Therapy for AADC Deficiency in the U.S.

Association for Molecular Pathology Publishes Joint Consensus Report on SARS-CoV-2 Genomic Surveillance for Hospitals and Public Health Laboratories

Philips India Unveils Advanced Azurion Imaging System to Revolutionize Cardiac and Neurovascular Care

Tempus AI Study Highlights Benefits of Dual RNA and DNA Sequencing for Advanced Lung Cancer

Home
/
insight
/
details

HRD Evaluation: Testing Techniques, Scoring Mechanisms, and Integration in Clinical Practice

NextEdge Admin

01 Feb 2024

4 min 9 sec

Homologous Recombination Deficiency (HRD) testing involves assessing the genomic instability and the ability of cells to repair DNA through homologous recombination. Various testing methods, scoring systems, and integration strategies are employed in clinical practice. Here is an overview:

HRD Testing Methods:

1. Genomic Sequencing:

– Next-Generation Sequencing (NGS): NGS technologies analyze the entire genome or specific genes associated with DNA repair pathways to identify mutations or alterations indicative of HRD.

2. Homologous Recombination (HR) Gene Mutation Analysis:

– BRCA1/2 Testing: Mutations in BRCA1 and BRCA2 are well-known contributors to HRD. Genetic testing for BRCA1/2 mutations is a common method for assessing HRD, especially in breast and ovarian cancers.

3. Functional Assays:

– RAD51 Assay: RAD51 is a key protein involved in homologous recombination. Functional assays measuring RAD51 foci formation or other related activities can assess HRD.

4. Large-Scale Genomic Signatures:

– Genomic Scars and Signatures: Various genomic features, such as loss of heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST), can be indicative of HRD.

HRD Scoring:

1. Genomic Scoring:

– LOH Score: LOH is a common feature of HRD, and the LOH score quantifies the extent of LOH in the genome.

– LST Score: LST assesses large-scale genomic alterations, which can be indicative of defective homologous recombination.

2. Combined Scoring Systems:

– HRD Score: Some tests combine multiple genomic features into a single HRD score.

Integration into clinical Practice:

1. Treatment Decision Support:

– HRD testing results can guide treatment decisions, especially in the choice of therapies targeting DNA repair pathways. PARP inhibitors, for instance, are often considered in HRD-positive tumors.

2. Prognostic Information:

– HRD status may provide prognostic information, influencing the overall assessment of disease severity and potential for recurrence.

3. Tailoring Chemotherapy Regimens:

– HRD status may influence the choice of chemotherapy regimens. Tumors with HRD may respond differently to certain chemotherapeutic agents.

4. Integration with Other Biomarkers:

– Combining HRD testing with other biomarkers, such as hormone receptor status or HER2/neu status in breast cancer, provides a more comprehensive molecular profile for personalized treatment planning.

5. Routine Clinical Practice:

– Some HRD testing methods, such as BRCA1/2 testing, are becoming routine components of cancer care, especially in breast and ovarian cancers.

It’s important to note that HRD testing is evolving, and the specific methods and their integration may vary depending on the cancer type, guidelines, and available technologies. Additionally, multidisciplinary collaboration involving oncologists, pathologists, genetic counselors, and other specialists is crucial for effective HRD testing integration and interpretation.

Related Tags

Homologous Recombination Deficiency

NGS technologies

genomic

Genomic Sequencing

Future Directions: Integration of Optical Mapping into Healthcare Systems for Precision Genomics

Precision Health Solutions: Unleashing Lab-on-a-Chip for Personalized Medicine and Point-of-care Diagnostics

Top Reviews

No reviews yet