Sophia Genetics launches solution for Chronic Lymphocytic Leukemia care

SOPHiA GENETICS has already facilitated the analysis of one million genomic profiles through the SOPHiA DDM Platform, including a significant amount of onco-hematological-related diseases such as acute myeloid leukemia and lymphomas. The Platform computes a wide array of genomic variants needed to continually hone machine learning algorithms designed to accurately detect rare and challenging cases.  The growing number of users of the SOPHiA DDM community can share and access insights by pulling the relevant signals detected from the noise, ultimately saving time and helping to make better-informed decisions.

The new CLL solution allows for progress of Chronic Lymphocytic Leukemia research using genomic analysis. This could lead to better detection of the disease, which accounts for 25-30% of all leukemia cases in Western countries and affects yearly more than 100,000 people globally (1), and ultimately improve patient care. Thanks to the SOPHiA DDM Platform and IDIBAPS, hematopathologists can now access guidelines for the mutational status of TP53, immunoglobulin (IG) gene rearrangements and their somatic hypermutation status, while benefitting from the identification of 23 CLL-specific genes for SNVs, InDels and CNVs including NOTCH1, SF3B1, ATM, IGLV3-21, BTK, PLCG2, BCL2, del13q14, and trisomy 12, all in one single NGS workflow.

The new CLL solution has already been used in routine in Spain, with further opportunities throughout the country, and in Latin America through Diagnóstica Longwood’s distribution channels.

“We are proud to work together with some of the most renowned experts in the field of Chronic Lymphocytic Leukemia research around the world. This partnership is a great example of how combining advanced data analytics with emerging CLL strategies can move the possibilities of data-driven medicine forward,” said Lara Hashimoto, Chief Business Officer at SOPHiA GENETICS.

“It is a great satisfaction to see how thanks to the partnership with SOPHiA GENETICS and Diagnóstica Longwood we will be able to transfer into clinical practice the relevant information generated for so many years in the research of CLL using a simple and robust assay,” said Elías Campo, principal investigator and director of IDIBAPS.

(1) Siegel RL, Miller KD, Goding Sauer A, Fedewa SA, Butterly LF, Anderson JC, et al. Colorectal cancer statistics, 2020. CA Cancer J Clin. 2020;70:145–164. doi: 10.3322/caac.21601.