SOPHiA GENETICS advances blood cancer genomic testing with new myeloid solutions

Press Release

Published on 06/01/2021

4 min read

Targets DNA variants and RNA fusion genes for blood cancers, including challenging biomarkers CALR, CEBPA, ASXL1, FLT3

Boston, MA, USA, and Lausanne, SWITZERLAND, June 1st, 2021 — SOPHiA GENETICS, the creator of a global data-sharing network that advances data-driven medicine, today released SOPHiA DDM™ for Blood Cancers, novel blood cancer testing solutions across the entire workflow from setup, genomic testing, and in-house advanced analytics. The solutions target the most relevant DNA variants and RNA fusion genes for blood cancers, and come with SOPHiA DDMTM platform analysis, easing the identification of major biomarkers with secondary and tertiary analyses.

Molecular profiling by next-generation sequencing (NGS) of myeloid tumors has transformed the investigation of pathogenic variants that could cause blood cancers. However, difficulties such as NGS design optimization and implementing bioinformatics for accurate variant calling can still be challenging for new and existing laboratories. SOPHiA GENETICS’ scalable new portfolio is designed to address these challenges and empower labs to confidently and securely identify major biomarkers associated with different blood cancers. The portfolio includes:

  • Myeloid Solution – targets the 30 most relevant myeloid cancer genes
  • Myeloid Plus Solution – assesses an additional 119 key RNA fusion driver genes RNA
  • Extended Myeloid Solution – offers the most comprehensive solution, fully covering over 98 genes

The above solutions streamline the analysis of complex genomic variants (within CALR, CEBPA, ASXL1, FLT3, FLT3 ITDs) by combining a capture-based target enrichment kit with the analytical performance and advanced features of the SOPHiA DDM™ platform. Importantly, all these applications can be customized to fully respond to the needs of a lab. With the in-house capability, users can reduce cost and save weeks of crucial time spent waiting on results from a send-out approach. Users also benefit from extensive community resources from more than 750 hospitals around the world.

Additionally, the adoption of SOPHiA DDM™ for Blood Cancers allows users to retain full data ownership and rely on expertise from renowned leaders in the field, while utilizing a platform that complies with international data protection laws and regulations, including HIPAA and GDPR. The platform’s security infrastructure has been designed to protect data against damage, loss, and unauthorized access, use, modification, disclosure, or other misuses.

To learn more about SOPHiA DDM™ for Blood Cancers, please visit:


SOPHiA GENETICS is the creator of a global data-sharing network that advances data-driven medicine to improve health outcomes and economics worldwide. By unlocking the power of new-generation health data for cancer and rare diseases management, the SOPHiA DDM™ Platform assists clinical researchers to act with precision and confidence. The SOPHiA DDM™ Platform and related solutions, products and services currently enable over 750 institutions to benefit from knowledge sharing, fostering a new era in healthcare.

SOPHiA GENETICS’s achievement is recognized by the MIT Technology Review’s “50 Smartest Companies.” SOPHiA GENETICS is a venture-funded company with international operations across the U.S., Switzerland, and France.

More info: SOPHiAGENETICS.COM, follow @SOPHiAGENETICS on Twitter.

Media Contact: [email protected]

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