The paoli-calmettes institute (ipc) in marseille becomes the first next generation sequencing lab certified in France for the molecular diagnosis, thanks to a new collaboration with Sophia Genetics

  • Sophia Genetics announces a new collaboration with the Paoli-Calmettes Institute, reducing drastically diagnosis turnaround time for breast and ovarian cancers
  • The Paoli-Calmettes Institute is the first FCCC to be fully recognized for the quality of its genetic tests, setting a new standard for molecular diagnosis in France 

LAUSANNE (Switzerland), MARSEILLE (France), 2 February 2016 – Sophia Genetics, the global leader in Data Driven Medicine (DDM), today announced a new partnership with the Paoli-Calmettes Institute (IPC) in Marseille. The company will provide this important French cancer centre (CLCC) with access to its leading genetic analysis services.

Speaking about the new collaboration with Sophia genetics, Professor Hagay Sobol, Head of the Oncology Genetics, Prevention and Screening Department at the IPC explains: “Sophia’s analysis allow us to identify and diagnose genetic predispositions of patients and help us inform our choice of personalised therapeutic treatments – platine or anti-PARP-based for instance.”

The Institute, a not for profit private healthcare facility (ESPIC) regulated by the Code of public health and with a mission of public hospital services in oncology, is part of UNICANCER, a network of 20 centres treating around 10% of cancer patients in France. The partnership with Sophia Genetics focuses initially on breast and ovarian cancers and the analysis of BRCA 1 and 2 genes mutations. Such mutations and the potential risk that they highlight of susceptibility to breast and ovarian cancer hit the news in March 2015, when actress Angelina Jolie disclosed her decision to go through a second round of preventive surgery to remove her ovaries and fallopian tubes following BRCA genetic tests.

Jurgi Camblong, CEO and founder of Sophia Genetics, explained: “In 2015, over 10.000 women were tested for BRCA1 and BRCA2 mutations using the Sophia Genetics platform in Europe. Sophia’s technology helps patients to benefit from precision medicine in order to prevent and treat diseases thanks to reliable as well as cost and time effective NGS (Next Generation Sequencing) based genetics tests”. 

The initial collaboration regarding BRCA testing is likely to increase the number of genetic tests being performed at the IPC. According to Professor Hagay Sobol “Sophia’s strength is its ability to have a lab up and running, providing cutting edge genetic analysis in less than a week, instead of months. In addition, Sophia values customers’ insights and is always trying to implement ideas from the hospital staff to constantly improve its system.”

Sophia Genetics collaborated with the IPC on an extensive validation program to identify genomic alterations in BRCA1 and BRCA2 genes for routine diagnostic, and using Next Generation Sequencing. BRCA NGS tests were performed on 177 clinical reference samples, including a total of 2124 confirmed genomic alterations, such as insertions and deletions of DNA bases. Additional 39 clinical samples were selected to validate the detection of the variation of the number of DNA bases copies, using Sophia Genetics’ sophisticated CNV (Copy Number Variation) module based on machine learning.

Sophia Genetics’ advanced proprietary PEPPER™, and MUSKAT™ machine learning based technologies enabled the IPC to reach top analytical performances for BRCA NGS tests with 100% specificity, 100% sensibility, 100% accuracy, 100% precision, and 100% repeatability. Eventually, thanks to Sophia Genetics’ sophisticated machine learning and algorithms, the Institute has been granted with the ISO 15189 accreditation for its Next Generation Sequencing laboratory from the French Accreditation Committee (COFRAC).  

Professor Sobol highlighted how “Sophia’s platform is already ISO certified and standardized. With such cutting-edge technology we are the first COFRAC Next Generation Sequencing lab to be accredited for the quality of our genetic tests in France”. Such recognition for the quality of genetic tests is a first in the industry and paves the way for a new standard in genetic testing quality and access to treatment for patients in France.