SOPHiA GENETICS
21 Case Studies
A SOPHiA GENETICS Case Study
TomaLab, a biomedical assays laboratory in Italy, sought to improve clinical decision-making for ovarian cancer patients. Their challenge was to better identify patients who could benefit from targeted PARP inhibitor therapy by determining their homologous recombination deficiency (HRD) status. To meet this need, they implemented the SOPHiA DDM™ Dx Homologous Recombination Deficiency (HRD) Solution from vendor SOPHiA GENETICS.
The solution from SOPHiA GENETICS successfully identified genomic instability in a patient who had previously tested negative for BRCA mutations. This critical finding allowed clinicians to make a timely and informed decision to pursue a PARP inhibitor-based therapy, which significantly increased the patient's probability of better health outcomes and survival. This case demonstrated that the platform provided comprehensive analysis, leading directly to improved clinical outcomes for cancer patients.