TEST:

SOPHiA DDM HRD Solution

Age at diagnosis was not affected by both BRCA and wGI status. HRD Insight assay could accurately and robustly determine the HRD status of ovarian tissue samples, including those with low quality.

The HRD assay offers high diagnostic performance of HRD in Korean OC patients. Furthermore, the prognostic value of high GII and HRD, as well as an association with SET pattern and HRD was evident in HGSC.

"SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native healthcare technology company and a global leader in data-driven medicine, has announced a significant new collaboration with Jessa Ziekenhuis in Hasselt, Belgium. The institutions will partner to bring cutting edge genomic testing and oncology research to cancer patients across Belgium...Through this collaboration, the hospital will adopt SOPHiA DDM™ across its pathology operations to unify its next-generation sequencing (NGS) workflows under a single platform. "

ddPCR effectively identified methylation-driven HRD, explaining deficiency in 36.4% additional patients with a positive GII score. These findings highlight the importance of incorporating methylation analysis into HRD testing to improve patient stratification for PARP inhibitor therapy.

Twenty-three paired OC samples were analyzed (Figure 1a). The characteristics of the included patients are described in Table 1. HRD testing was informative in 20(87%) pre-NACT and 15(65.2%) post-NACT samples.

Compared with the 3 kits, our assay showed a concordance rate of 94.6%, positive percent agreement and negative percent agreement of 96.4% and 92.9% respectively. Conclusions HRD status could be accurately and reliably determined by our HRD Insight assay to help physicians select approved PARPi for OC patients.

Automatization library preparation for SeqOne´s solution using the Magnis NGS Prep System can help to reduce operator’s errors, which could explain the difference in the non-conclusive results between both solutions. Indeed, workflow automation can be a powerful tool for improving efficiency and saving time. Values close to the threshold should be taken with caution before administering PARP inhibitor therapy to patients according to our results.

Our data supports considering ascitic cytology samples suitable for HRD testing and BRCA1 and BRCA2 mutation analysis. Further studies are needed to validate the practice of using ascitic cytology as a diagnostic specimen for HRD testing when tissue is not accessible, as it could prove crucial to provide ovarian cancer patients with essential information in an early stage of the diagnostic process.

Our data suggest the feasibility of commercial testing for assessing HRD status, with a good concordance with the reference method and association with clinical outcome.

P2; N=100; Recruiting; Sponsor:Vall d'Hebron Institute of Oncology

"SOPHiA GENETICS...announced that Unilabs...is live on the SOPHiA DDM™ Platform. Unilabs will use SOPHiA GENETICS' technology to test for HRD-status in solid tumors and provide expedited analysis across its network in Switzerland."

The Oncomine Comprehensive Assay Plus provides a reliable biomarker for homologous recombination deficiency.