Sophia Genetics, the European leader in Clinical Genomics and Next Generation DNA Sequencing (NGS), has launched a major upgrade to its Data Driven Medicine Platform (Sophia DDM), offering full BRCA1/2 analysis on a single NGS (Next Generation Sequencing) run, for the first time.
BRCA1 and BRCA2 are two examples of genes that raise cancer risk if they become altered. Having a genetic mutation in the BRCA gene can greatly increase a woman’s chance of developing breast cancer and ovarian cancer.
Sophia Genetics works with Europe’s leading laboratories and hospitals to deliver cutting edge clinical diagnostic tests in oncology and other disease areas. The upgrade will now provide such institutions, and potentially others, with an enhanced algorithm, displacing Sanger Sequencing and MLPA techniques as gold standards.
This technology will potentially enable quicker and more accurate diagnosis of predisposition to breast cancer for 100’000 women across Europe, without incurring any cost increase to national health services.