Our study, presented at the ESMO Asia Congress 2024 (Singapore, December 6–8), highlights the potential of Gene Solutions’ HRD Insight test as a transformative tool for ovarian cancer patients in developing countries. The study revealed that over 50% of Vietnamese ovarian cancer patients are HRD-positive and could significantly benefit from PARP inhibitor (PARPi) therapy, a targeted treatment option.
Homologous recombination deficiency (HRD) testing has become a critical tool in oncology and is recommended by ESMO for women with high-grade epithelial ovarian cancer (Colombo, Annals of Oncol, 2021).
HRD Insight: Key Highlight Results:
Developed by Gene Solutions, HRD Insight combines BRCA mutation detection with genome-wide Copy Number Alteration (CNA) assessments, offering:
- High sensitivity and specificity (>99%) for both BRCA1/2 (germline and somatic) variants and Genomic instability status
- Low-quality FFPE sample handling with a >99% success rate in tested samples
- High Concordance with Global Standards: When benchmarked against commercial assays like TruSight Oncology 500 HRD (Illumina), SOPHiA DDM HRD Solutions (Sophia Genetics), and HRD Focus Panel (AmoyDX), the HRD Insight test achieved a 6% concordance rate, with a positive percent agreement of 96.4% and a negative percent agreement of 92.9%.
- Accurate and reliable HRD determination: HRD Insight can effectively guide physicians in selecting approved PARPi therapies for ovarian cancer patients.
Addressing Unmet Needs in Developing Countries
HRD prevalence data remains scarce in developing countries like Vietnam. This study sheds light on this under-researched area, revealing an HRD-positive rate of approximately 55% among Vietnamese ovarian cancer patients. Notably, genomic instability was identified as a more prevalent marker in HRD-positive cases compared to BRCA1/2 mutations.
Challenges and Opportunities
Validation of HRD tests across various platforms has proven complex, as emphasized by Friends’ HRD Harmonization Project led by the National Cancer Institute (NCI). However, HRD Insight’s high performance and cost-efficiency make it a promising option for resource-constrained settings.
A Vision to the Future
The HRD Insight test not only fills a critical gap in ovarian cancer treatment in developing countries but also paves the way for more patients to access life-changing therapies like PARP inhibitors.
While these findings are encouraging, the researchers emphasize the need for larger cohort studies with well-defined subtypes to refine prevalence estimates and enable detailed subgroup analyses. This vision aligns with Gene Solutions’ broader goal of enhancing accessibility to personalized medicine across the Asia.
Click here to access the full abstract: 379MO – Homologous recombination deficiency testing in Vietnamese patients with ovarian cancer
