Sophia Genetics, a cloud-native software company and a provider in data-driven medicine, announced an expanded suite of solutions under SOPHiA DDM for liquid biopsy. The range of solutions, including MSK-ACCESS powered with SOPHiA DDM and custom solutions, are designed to help progress oncology research and tumor mutation profiling. 

For a sizeable number of cases, genomic testing of tumor tissue is not feasible due to either insufficient tissue material, low quality of the obtained tissue, or the invasiveness of the procedure, according to the company. Liquid biopsy testing offers an alternative to solid tumor testing by isolating cell-free DNA (cfDNA) from blood plasma, which may uncover circulating tumor DNA (ctDNA). Isolating these DNA samples from a simple blood draw can help guide clinical decisions in a manner that is faster and less invasive, expedite results for researchers and clinicians, and simplify monitoring. 

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Sophia Genetics’ liquid biopsy offering will help users enhance tumor profiling with advanced cfDNA analysis and a streamlined DNA-only NGS workflow, allowing users to go from extracted cfDNA to comprehensive report in an efficient timeframe. SOPHiA DDM for Liquid Biopsy features Sophia Genetics’ proprietary unique molecular identifier technology (CUMIN) that is designed to transform the way labs analyze cell-free DNA samples with exceptional performance and reliable results.

“Our goal at SOPHiA GENETICS is to increase the use of data-driven medicine around the world and decrease health inequities by making resources more accessible to all,” says Philippe Menu, MD, PhD, chief medical officer and chief product officer, Sophia Genetics. “Liquid biopsy is a sophisticated testing capability that can help expedite clinical decisions and planning. It is inherently cheaper and faster than traditional biopsy methods and is an excellent tool for labs and health systems to have at their disposal. We feel strongly that increased use of liquid biopsy will help advance oncology care and we are excited to help our customers implement this offering.”

Customers interested in implementing a liquid biopsy offering via SOPHiA DDM have different options based on their individual needs. MSK-ACCESS powered with SOPHiA DDM is a decentralized version of a highly validated ctDNA assay developed by Memorial Sloan Kettering (MSK) that involves the deep sequencing of 146 key cancer-associated genes. Customers utilizing the SOPHiA DDM Platform for solid tumor applications can adapt their panels to include liquid biopsy samples; and for customers who have unique challenges or who focus on specific biomarkers, Sophia Genetics offers custom liquid biopsy applications built in partnership with the Sophia Genetics team.

The Sophia Genetics liquid biopsy solutions incorporate the company’s proprietary algorithms and advanced genomic analysis, made possible with artificial intelligence (AI), to provide customers with expedited and streamlined insights that increase the ability of clinician researchers to practice precision medicine. Additionally, the Sophia Genetics solutions allow customers to retain full ownership of their databases and obtain reproducible data that can help accelerate future work.