New Sophia DDM platform offers full BRCA1/2 analysis on a single NGS run

Sophia Genetics, the European leader in Clinical Genomics and Next Generation DNA Sequencing (NGS), has today 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 superior 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.

Commenting on the news, Jurgi Camblong, CEO and co-founder of Sophia Genetics said:

Our upgraded platform means that the institutions and laboratories can offer a more comprehensive and rigorous testing service for patients. Mutations in BRCA1 and BRCA2 genes can increase breast cancer risk by up to 90%, and ovarian cancer risk by 50%, indicating the importance of early detection.

Sophia Genetics’ DDM platform extracts more information from NGS data speeding up clinical diagnosis and increasing its accuracy

Sophia Genetics has adapted its algorithm so that its customers can now identify all SNPs, INDELs and CNVs in BRAC1/2 genes, all presented on a clean integrated interface. In addition, users can now leverage new features and historical data to interpret Variants of Unknown Significance (VUS).

Following the announcement, Dr. Benno Röthlisberger, Head of Clinical Genetics at Kantonsspital Aarau, Switzerland, who was involved in testing the new system said:

The ability to detect mutations in BRCA1 and BRCA2 genes via this new method is good news for patients. It means that more people will be able to access information about their possible cancer risk more quickly than before.

For laboratories the benefits include more cost effective testing, a reduction in the number of experiments required and greater accuracy in the advice that they can provide.

Sites using the existing software do not have to manually install the update – it takes place automatically when connected to Sophia’s servers.

The Sophia DDM platform replaces dropGenTM software, providing a renovated look and feel for users. The upgrade was initiated with the goal of making genetic variant analysis easier for Sophia customers - to help identify the pathogenicity of variants.