SOPHiA GENETICS
21 Case Studies
A SOPHiA GENETICS Case Study
The Royal Marsden NHS Foundation Trust needed to establish an in-house method for Homologous Recombination Deficiency (HRD) testing for ovarian cancer patients to avoid sending samples abroad. Their challenge was to find a bioinformatics solution that could integrate with their existing NGS chemistry and workflow to provide genomic instability scores and enable patient access to targeted therapies.
SOPHiA GENETICS implemented its GIInger Genomic Integrity Solution, which was integrated with the trust's in-house BRCA testing. The solution achieved 100% concordance with an orthogonal method. By utilizing SOPHiA GENETICS' platform, the trust successfully launched its service, processing 106 samples internally with an average turnaround time of under 21 days, significantly improving operational efficiency.