SOPHiA DDM™ for Oncology
Turning cancer into a chronic disease
We believe data-driven medicine will contribute to the control of cancer thanks to a deeper and accelerated analysis of healthcare data, facilitated access to multiple sources of valuable information, and secure knowledge sharing.
That’s why we equip healthcare professionals with genomics, radiomics and multimodal solutions to rapidly access the insights they need to refine tumor classification, staging and prognosis and further personalize care plans.
To advance the field of oncology, we maximize the utility of our knowledge base. SOPHiA GENETICS supports the biopharma ecosystem at all stages of a targeted therapies lifecycle by providing real-world insights on tumor-driving mutations and biomarker testing practices, and by accelerating clinical trial performance.
Our extensive genomic solutions portfolio for oncology
Our genomics portfolio includes optimized end-to-end solutions for any type of NGS-based cancer assessment. All our applications leverage the SOPHiA DDM™ platform which seamlessly covers all steps of variant analysis with algorithm-enabled decision-support functionalities while guaranteeing experts’ full control over their data.
Studies have uncovered multiple classes of oncogenes that provide immense diagnostic and therapeutic advantages because of their tumor-specific expression. Combinations of oncogenic mutations, including gene fusions, help classify heterogeneous disorders to inform prognosis and treatment.1 From targeted to comprehensive genomic profiling, SOPHiA GENETICS provides healthcare professionals with complementary strategies to analyze those mutations.
Genetic characterization of a wide array of hematological malignancies has helped to define genetic biomarkers, delineating specific myeloid and lymphoid neoplasms. Many alterations in those biomarkers are now incorporated into the WHO-defined criteria for diagnostic evaluation.2 As science and guidelines for myeloid malignancies constantly evolve, so do SOPHiA GENETICS solutions with the ability to support healthcare professionals in confidently accessing the answers they need.
Researchers have associated mutations in specific genes with more than 50 hereditary cancer syndromes, and have estimated that 10-15% of most cancers are due to inherited genetic mutations.3-6 SOPHiA GENETICS solutions support the rapid detection of known mutated hereditary cancer genes to inform efficient decision-making all along the cancer care journey.
Fusion detection capabilities
Originally associated with hematologic cancers, fusion genes have recently been discovered in a wide array of solid tumors. These fusion genes are attractive as both therapeutic targets and diagnostic tools due to the inherent expression in tumor tissue alone, which could provide more effective therapies in the future for cancer patients8. SOPHiA DDM™ supports gene fusion detection, annotation, interpretation, and reporting for multiple commercially available panels without compromising analytical sensitivity.
Our impact beyond genomics
SOPHiA DDM™ for Radiomics offers imaging, end-to-end analytical solutions to help discover new biomarkers for disease evolution monitoring, treatment efficacy evaluation and therapeutic outcomes prediction.
To further advance precision medicine, we are pioneering the synergistic combination of radiomics, genomics and biological data. From biomarker discovery to patient stratification, we believe a multimodal approach holds a revolutionary potential for the future of precision medicine.
Our support to the biopharma ecosystem
It is estimated that 91% of oncology drugs in late-stage biopharma pipelines are targeted therapies.7 By leveraging on the SOPHiA DDM™ platform, network, and knowledge base, biopharma partners access the insights that can potentially lead to better outcomes. We provide support for every challenge of the drug lifecycle, from pre- to post-market approval, to ensure that the right medicine reaches the right patients in record time.
1. Veenstra, C., Bruce, D., Timbs, A., & Hamblin, A. Application of Genomics to Clinical Practice in Haematological Malignancy. Current Genetic Medicine Reports. 2019;7(4):236-252.
2.Taylor, J., Xiao, W., & Abdel-Wahab, O. Diagnosis and classification of hematologic malignancies on the basis of genetics. Blood. 2017;130(4):410-423.
3. Tung N., Battelli C., Allen B., et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015;121(1):25-33.
4. Pal T., Permuth-Wey J., Betts J.A., et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005;104(12):2807-16.
5. Claus E.B., Risch N., Thompson W.D., et al. The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res Treat. 1993;28(2):115-20.
6. Risch H.A., McLaughlin J.R., Cole D.E,. et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001;68(3):700-10.
7. https://www.iqvia.com/insights/the-iqvia-institute/reports/global-oncology-trends-2019, accessed on June 11th, 2021.
8. Parker, Brittany C., and Wei Zhang. “Fusion genes in solid tumors: an emerging target for cancer diagnosis and treatment.” Chinese journal of cancer 32, no. 11 (2013): 594.