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.

2 months ago

Clinical • BRCA Biomarker • Metastases

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)

BRCA2 mutation • BRCA1 mutation • HRD

SOPHiA DDM HRD Solution

2ms

Comparation between two commercial solutions for homologous recombination deficiency (ECP 2024)

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.

2 months ago

HRD (Homologous Recombination Deficiency)

HRD

SOPHiA DDM HRD Solution

5ms

Cytology-based HRD testing and BRCA mutational profiling in a set of ovarian cancer patients (ECP 2024)

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.

5 months ago

Clinical • PARP Biomarker • BRCA Biomarker • Cytology

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)

BRCA2 mutation • BRCA1 mutation • HRD • HRD + BRCA1 mutation • BRCA1 mutation + BRCA2 mutation • BRCA mutation

Myriad myChoice® CDx Plus • SOPHiA DDM HRD Solution

6ms

Harmonization of homologous recombination deficiency testing in ovarian cancer: Results from the MITO16A/MaNGO-OV2 trial. (PubMed, Eur J Cancer)

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.

6 months ago

Journal • BRCA Biomarker

HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)

Myriad myChoice® CDx • TruSight Oncology 500 Assay • Oncomine™ Comprehensive Assay Plus • SOPHiA DDM HRD Solution • TruSight Oncology 500 HRD Assay

7ms

Status of HRD That Lead to a Benefit From Olaparib in Combination With Bevacizumab (STROBE Trial) (clinicaltrials.gov)

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

7 months ago

Combination therapy • New P2 trial • Metastases

HRD (Homologous Recombination Deficiency)

HRD

SOPHiA DDM HRD Solution

Avastin (bevacizumab) • Lynparza (olaparib)

7ms

SOPHiA GENETICS announces Unilabs is using its AI technology to detect homologous recombination deﬁciency (HRD) (SOPHiA GENETICS Press Release)

"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."

7 months ago

Licensing / partnership

SOPHiA DDM HRD Solution

8ms

Prediction of homologous recombination deficiency from Oncomine Comprehensive Assay Plus correlating with SOPHiA DDM HRD Solution. (PubMed)

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

8 months ago

Journal • PARP Biomarker

Oncomine™ Comprehensive Assay Plus • SOPHiA DDM HRD Solution

8ms

SOPHiA GENETICS announces first homologous recombination deficiency (HRD) customer in Canada (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced the University of Saskatchewan (USask) as its first HRD customer in Canada. USask will implement the SOPHiA DDM™ Platform for use in its cutting-edge clinical trial, which aims to substantially improve the quality of life for ovarian cancer patients through expanded genetic testing. This is the first clinical trial in Canada designed to improve ovarian cancer treatment decisions and inspire guideline changes to increase access to advanced testing."

8 months ago

Licensing / partnership

SOPHiA DDM HRD Solution

10ms

SOPHiA GENETICS and AstraZeneca Spain Commit to Increasing Ovarian Cancer Testing in Spain (PRNewswire)

"SOPHiA GENETICS...announced it has expanded an existing program in Spain to increase access to local testing for homologous recombination deficiency (HRD) throughout the country. The expansion of the program, supported by AstraZeneca Spain and its network throughout the country, will further SOPHiA GENETICS' commitment to global health equity by making this vital testing available to thousands more patients in the country....With today's announcement, AstraZeneca Spain named SOPHiA GENETICS its preferred partner in deploying HRD testing throughout Spain."

10 months ago

Licensing / partnership • Clinical

SOPHiA DDM HRD Solution

10ms

Multicenter Study To Validate And Implement SOPHiA DDM HRD Solution For Enhanced Molecular Diagnosis Of Ovarian Cancer. (ESGO 2024)

Conclusion This collaborative study concludes that SOPHiA HRD Solution provides reliable and consistent results across different hospitals and sequencing runs. These findings contribute to the growing body of evidence supporting the use of SG-HRD in clinical settings for genomic analysis.

10 months ago

Clinical • PARP Biomarker • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)

HRD • BRCA mutation

SOPHiA DDM HRD Solution

12ms

SOPHiA GENETICS expands relationship with Città della Salute e della Scienza di Torino (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced the expansion of its relationship with the Città della Salute e della Scienza di Torino located in Turin, Italy. The hospital, which used SOPHiA GENETICS after a public tender in 2021 to optimize workflows and support research in the areas of hereditary cancer, neurological disorders, solid tumors, hematology and rare disease, will further expand its usage of the SOPHiA DDM™ Platform to support research on homologous recombination repair (HRR) biomarkers that indicate treatment options for ovarian, prostate, breast and pancreatic cancers."

12 months ago

Licensing / partnership

SOPHiA DDM HRD Solution

1year

A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis. (PubMed, Diagnostics (Basel))

Our data shows that the implementation of in-house HRD testing in diagnostic laboratories is technically feasible and can be reliably performed with commercial assays. Also, the turnaround time is compatible with clinical needs, making it an ideal alternative to offer to a broader number of patients while maintaining high-quality standards at more accessible price tiers.

1 year ago

Journal • PARP Biomarker

HRD (Homologous Recombination Deficiency)

HRD

Myriad myChoice® CDx • AmoyDx® HRD Focus Panel • SOPHiA DDM HRD Solution

1year

Ovarian High-grade Serous Carcinoma with Transitional-like (SET) Morphology: A Homologous Recombination-deﬁcient Tumor. (PubMed, Hum Pathol)

"Our results show that the majority of HGSCs with SET features are homologous recombination deficient tumors independently of the BRCA status and highlight the importance of the homologous recombination repair tumor testing especially in BRCA wild-type tumors. Recognition of transitional cell variant of HGSCs may help to identify patients most likely to benefit from PARP inhibitors."

1 year ago

Journal

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)

BRCA2 mutation • BRCA1 mutation • HRD • ATM mutation • PALB2 mutation • BRCA wild-type • CDK12 mutation • BRIP1 mutation • HRD + BRCA1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • RAD54L mutation • CHEK1 expression

Myriad myChoice® CDx Plus • SOPHiA DDM HRD Solution

1year

SOPHiA GENETICS announces the IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) is live on the SOPHiA DDM™ platform (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced that the IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', an oncology center in Italy, is using the SOPHiA DDM™ Platform to power a new genomic test that will be used to aid physicians in developing personalized treatment plans for those with advanced ovarian cancer...With use of the SOPHiA DDM™ Platform, the test will help identify patients with a homologous recombination deficiency (HRD), which is caused by a cell's impaired ability to repair DNA double-stranded breaks."

1 year ago

Licensing / partnership

SOPHiA DDM HRD Solution

1year

CHU Bordeaux is live on SOPHiA GENETICS (BioSpace)

"SOPHiA GENETICS...announced that CHU Bordeaux...has completed implementation of the SOPHiA DDM™ Platform into its organization. The hospital will be using the SOPHiA GENETICS technology to help advance its research on homologous recombination repair (HRR) mutated cancers."

1 year ago

Licensing / partnership

SOPHiA DDM HRD Solution

over1year

Homologous recombination deficiency (HRD) testing on ovarian cancer ascites: A feasibility study (ESMO 2023)

Conclusions This exploratory study showed that HRD testing on cytological specimens from EOC ascites is feasible but standardized pre-analytical procedures are required to ensure adequate samples for the analysis. Ascites might represent a valid alternative for early BRCA1/2 and HRD status evaluation in women with EOC when tissue samples are inadequate/insufficient.

over 1 year ago

BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CCNE1 (Cyclin E1) • BRCA (Breast cancer early onset)

TP53 mutation • HRD • BRCA wild-type • CCNE1 mutation

SOPHiA DDM HRD Solution

over1year

Real-world results of homologous recombination deficiency testing: Comparison between two methods on 2,655 ovarian cancer patients in Spain (ESMO 2023)

Percentages of BRCAwt/GIS-, BRCAwt/GIS+, BRCAm, and invalid cases were almost identical. In conclusion, Sophia DDMTM Dx HRD solution shows a high interlaboratory agreement, providing clinically relevant molecular information, and improving the interaction between referral and reference centers.

over 1 year ago

Real-world evidence • Clinical • BRCA Biomarker • Real-world

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CCNE1 (Cyclin E1) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)

BRCA2 mutation • BRCA1 mutation • HRD • PALB2 mutation • CCNE1 amplification • BRIP1 mutation • HRD + BRCA1 mutation • RAD51C mutation • RAD51D mutation • RAD51 mutation

Myriad myChoice® CDx Plus • SOPHiA DDM HRD Solution

over1year

SOPHiA GENETICS announces Gruppo Centro Servizi Medici (CSM) is live on the SOPHiA DDM™ platform (PRNewswire)

"SOPHiA GENETICS...announced Gruppo Centro Servizi Medici (CSM)...is live on SOPHiA GENETICS technology. CSM has implemented the SOPHiA DDM™ Platform to help expand its current next-generation sequencing (NGS) offerings and advance its research of hereditary cancer and homologous recombination deficiency (HRD)."

over 1 year ago

Licensing / partnership

SOPHiA DDM HRD Solution

over1year

NOMAD Genetics is live on the SOPHiA GENETICS platform (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced a strategic alliance with NOMAD Genetics...Through the seamless deployment of SOPHiA GENETICS’ trailblazing SOPHiA DDM™ Platform, NOMAD Genetics is augmenting its research capabilities while elevating its operational efficiency...Through the implementation of the SOPHiA GENETICS Platform, NOMAD Genetics will be able to more quickly and accurately identify HRD-positive cancers and utilize a streamlined workflow that will help accelerate rare and inherited disease research."

over 1 year ago

Licensing / partnership

SOPHiA DDM HRD Solution

over1year

Institute of Oncology Ljubljana leverages SOPHiA DDM™ platform for cancer research (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced that the Institute of Oncology Ljubljana (IOL)...based in Ljubljana, Slovenia, is live on SOPHiA DDM™. To help advance its clinical oncology research, IOL is leveraging low-pass Whole Genome Sequencing (WGS) data computed by the proprietary GIInger deep-learning algorithm from SOPHiA GENETICS to increase research efficiency and obtain actionable clinical insights to make data-driven decisions that improve the quality of patient care...IOL will use SOPHiA DDM™ to identify Homologous Recombination Deficiency (HRD) in tumor samples."

over 1 year ago

Licensing / partnership

SOPHiA DDM HRD Solution

over1year

Dasa expands its capabilities with SOPHiA GENETICS (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...celebrates...with longstanding partner, Dasa...as it reaches a milestone of 2,000 samples analyzed for HRD status. This milestone comes just one year after implementing the SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution....Dasa then implemented the SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution in March 2022."

over 1 year ago

Licensing / partnership • Clinical

SOPHiA DDM HRD Solution

over1year

SOPHiA GENETICS’ SOPHiA DDM™ HRD Solution is tapped by Unipath Specialty Laboratory Limited (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced that Unipath Specialty Laboratory Limited...is live on the SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution. Using SOPHiA GENETICS’ technology, Unipath Specialty Laboratory Limited has launched HRD Gene Panel, its latest offering in the field of cancer genomics...The SOPHiA DDM HRD Solution will enable Unipath Specialty Laboratory Limited to retain full ownership of their data, saving time and expense, while offering comprehensive genomic insights powered by deep learning algorithms."

over 1 year ago

Licensing / partnership • Launch

SOPHiA DDM HRD Solution

over1year

Blinded-assessment of a solution to evaluate olaparib maintenance treatment efficacy in patients with ovarian cancer from the GINECO/ENGOT PAOLA-1 trial. (ASCO 2023)

GINECO/ENGOT-Ov25 PAOLA-1 trial randomized (2:1) 804 patients (pts) to receive after the end of first-line platinum-based chemotherapy either maintenance olaparib+bevacizumab or placebo+bevacizumab for up to 2 years. These clinical relevance results from the SOPHiA DDM Dx HRD Solution evaluation on the PAOLA-1 samples further support the value of combining low-pass whole genome and targeted sequencing in a unique workflow for reliable and cost-effective HRD testing and future patient stratification. (*) Comparison data generated using the CE-IVD pipeline with Clinical Decision Support module for BRCA status only available in EU, Switzerland, UK.

over 1 year ago

Clinical • PARP Biomarker • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)

BRCA2 mutation • BRCA1 mutation • HRD • HRD + BRCA1 mutation • BRCA mutation

SOPHiA DDM HRD Solution

Avastin (bevacizumab) • Lynparza (olaparib)

over1year

In-house homologous recombination deficiency testing in ovarian cancer: a multi-institutional Italian pilot study. (PubMed, J Clin Pathol)

In-house testing for HRD can be reliably performed with commercially available next-generation sequencing assays.

over 1 year ago

Journal • PARP Biomarker • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)

HRD

Myriad myChoice® CDx • SOPHiA DDM HRD Solution

over1year

Tel Aviv Sourasky Medical Center chooses SOPHiA DDM™ HRD Solution of SOPHiA GENETICS (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced that Tel Aviv Sourasky Medical Center (Ichilov)...has chosen to use SOPHiA DDM™ to enhance its genetic testing capabilities. The facility, which serves a population of one million people, will use the SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution to help advance its clinical oncology research."

over 1 year ago

Licensing / partnership

SOPHiA DDM HRD Solution

over1year

Multi-site evaluation of FFPE homologous recombination deficiency reference materials (AACR 2023)

GIS varied for each material across assays, but HRD status was consistent, confirming the wide applicability of the new reference materials. We have developed the Seraseq HRD reference materials to meet the needs of laboratories looking to analyze HRD in cancer patient samples. These reference materials facilitate standardization and quality control in HRD testing by clinical labs for current and new PARP inhibitor treatment stratification in expanded patient populations that may include those with WT BRCA1/2 genes.

over 1 year ago

PARP Biomarker • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)

HRD • ATM mutation • RAD51C mutation • RAD51D mutation

TruSight Oncology 500 Assay • OncoScan™ CNV Assay • SOPHiA DDM HRD Solution

over1year

ESP01E. Decentralization and Collective Intelligence: Pioneering a New Era in Precision Medicine (AACR 2023)

Learn how to unlock the platform's potential to identify unmet needs, accelerate precision medicine development, and improve patient access to new therapies by securely sharing knowledge on a global scale. Discover how SOPHiA DDM™ continues to drive and accelerate the adoption of homologous recombination deficiency (HRD) analysis and our decentralized approach to MSK-ACCESS.

over 1 year ago

HRD

MSK-ACCESS • SOPHiA DDM HRD Solution

2years

New data presented at ESGO showcases clinical relevance of SOPHiA DDM Dx HRD solution (Eurekalert)

"SOPHiA GENETICS...debuted new data at the European Society of Gynaecological Oncology (ESGO) Congress as part of a poster (#PA-065) presented by Prof. Alexandre Harlé of the Institut de Cancérologie de Lorraine, France. The results show an evaluation of Homologous Recombination (HRD) detection supported by a deep learning algorithm in a clinical cohort of ovarian cancer patients treated with a PARP inhibitor. The new evaluation data show the clinical utility of the SOPHiA DDM™ Dx HRD Solution for accurate HRD testing."

2 years ago

Clinical data

SOPHiA DDM HRD Solution

2years

Updated Interim Results of the Clinical Performance Evaluation of a Novel Deep Learning Solution for Homologous Recombination Deficiency Detection (AMP 2022)

The interim results of SOPHiA DDM Dx HRD Solution evaluation study continue to support the value of lpWGS data for patient stratification, making it a reliable option for HRD testing in the clinical setting.

2 years ago

Clinical • PARP Biomarker

HRD (Homologous Recombination Deficiency)

HRD

Myriad myChoice® CDx • SOPHiA DDM HRD Solution

Lynparza (olaparib)

2years

Clinical performance evaluation of a novel deep learning solution for homologous recombination deficiency detection (ESGO 2022)

The interim results of SOPHiA DDM Dx HRD Solution evaluation study support the value of lpWGS data for patient stratification, making it suitable for HRD testing in the clinical setting.

2 years ago

Clinical • PARP Biomarker

HRD (Homologous Recombination Deficiency)

HRD

Myriad myChoice® CDx • SOPHiA DDM HRD Solution

Lynparza (olaparib)

over2years

A multicenter evaluation of a low pass whole genome sequencing-based solution for homologous recombination deficiency detection (ESMO 2022)

Additionally, SOPHiA DDM Dx HRD Solution results for samples analyzed in duplicate were 100% reproducible. Table: 579P Confusion matrix of comparison between Myriad myChoice CDx and SOPHiA DDM Dx HRD Solution results (149 unique samples) Conclusions We conclude that SOPHiA DDM Dx HRD Solution supports accurate HRD detection from low pass whole genome sequencing data, which is amongst the most cost-effective and easy to implement genome profiling methods.

over 2 years ago

Clinical • PARP Biomarker

HRD (Homologous Recombination Deficiency)

HRD

Myriad myChoice® CDx • SOPHiA DDM HRD Solution

over2years

SOPHiA GENETICS achieves CE-IVD certiﬁcation using its SOPHiA DDM™ Platform (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced from the ESHG Conference in Vienna that it has achieved CE-IVD certification for the analytical functionality supported by its cloud-based SOPHiA DDM™ Platform, an accessory to diagnostic applications...Powered by the Company’s proprietary deep learning algorithms, the SOPHiA DDM™ Platform supports state-of-art oncology technologies, including five CE-IVD SOPHiA DDM applications, including the newly registered SOPHiA DDM™ Dx Homologous Recombination Deficiency (HRD) Solution and SOPHiA DDM™ Dx RNAtarget Oncology Solution."

over 2 years ago

European regulatory

SOPHiA DDM Dx RNAtarget Oncology Solution • SOPHiA DDM HRD Solution

over2years

SOPHiA GENETICS HRD Solution adopted in Asia Pacific (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...today announced that SOFIVA GENOMICS...is the first institution in Asia Pacific to adopt SOPHiA GENETICS’ technology to support HRD testing...SOFIVA GENOMICS has compared the SOPHiA DDM HRD Solution with alternative solutions on hundreds of ovarian cancer samples and has concluded that SOPHiA GENETICS offered analysis technology to simultaneously detect more HRR (Homologous Recombination Repair) genes, including BRCA 1 and BRCA 2."

over 2 years ago

Licensing / partnership

SOPHiA DDM HRD Solution

over2years

SOPHiA GENETICS launches new deep learning capabilities to support the detection of homologous recombination deficiencies (SOPHiA GENETICS Press Release)

"SOPHiA GENETICS...announced today the launch of their SOPHiA DDM Homologous Recombination Deficiency (HRD) Solution, opening new doors for cancer research. The application provides a unique approach for molecular cancer testing by combining the identification of HRD-causing mutations with the analysis of HRD-induced genomic instability across the whole genome of tumor samples...SOPHiA GENETICS is collaborating with AstraZeneca, aiming to expand access to in-house HRD testing across European laboratories and institutions."

over 2 years ago

Licensing / partnership • Launch

SOPHiA DDM HRD Solution

TEST:SOPHiA DDM HRD Solution

News

TEST:
SOPHiA DDM HRD Solution