Sophia Genetics’ technology to be used by University Hospitals in Cologne and Düsseldorf to improve diagnosis of hereditary breast and ovarian cancer patients

  • University hospitals in Cologne and Düsseldorf are the latest healthcare providers in Germany to adopt Sophia Genetics’ leading analytics technology for the Consortium’s TruRisk™ gene panel
  • This will provide access to faster, more accurate diagnosis of hereditary breast and ovarian cancer for patients
  • Analysis will provide patients and clinicians with more precise information about the risk of inherited breast and ovarian cancer


LAUSANNE, Switzerland, 14 April 2015 – Sophia Genetics, the European leader in Data Driven Medicine, has today announced that it has signed agreements with two major University Hospitals in Germany.

The agreement will see Sophia Genetics provide its leading Data Driven Medicine Platform for patients undergoing testing for their risk of developing hereditary breast and/ or ovarian cancer using Next Generation Sequencing (NGS). The hospitals are the first members of the German Consortium of Hereditary Breast and Ovarian Cancer (Deutsches Konsortium für Familiären Brust- und Eierstockkrebs) to sign agreements with Sophia Genetics.

The two hospitals will adopt Sophia Genetics’ technology for the validation and routine analysis of the NGS-based TruRisk™ gene panel, benefitting from the best analytical performance. The University Hospital in Düsseldorf has previously collaborated with Sophia Genetics on a validation study of its clinical-grade solution to detect large deletions and duplications (CNVs) in routine diagnostics.

BRCA1/2 genes act as tumour suppressors through repairing DNA. The presence of mutations in these genes can indicate an increased risk of breast cancer of up to 70% and an increased risk of ovarian cancer of around 50%. Thus, patients who have a family history of breast and/ or ovarian cancer are often advised to undergo genetic testing to see whether they carry a mutation in the BRCA1/2 gene.

Over the past few years, several more genes have been linked in scientific literature with a higher risk of developing breast and/ or ovarian cancer. This has raised the need for an extension of BRCA1/2 genetic testing to other breast and/ or ovarian cancer risk genes. The TruRisk™ panel, designed jointly by the members of the German Consortium of Hereditary Breast and Ovarian Cancer (Deutsches Konsortium für Familiären Brust- und Eierstockkrebs), using Next Generation Sequencing to provide patients with a comprehensive testing service for mutations in more than 30 risk genes for breast and/or ovarian cancer.

Commenting on the agreement, Jurgi Camblong, CEO and Co-Founder of Sophia Genetics said:

“The recent interest in Angelina Jolie’s health decisions illustrates the importance of making highly accurate and cost effective genetic testing available through healthcare providers. Our agreement with the consortia hospitals of Cologne and Düsseldorf will provide clinicians at these institutions with comprehensive and highly accurate information for advising patients on their treatment options.”

Dr. Eric Hahnen of the University Hospital Cologne added:

“We look forward to working with Sophia Genetics on the implementation of our TruRisk™ panel in routine diagnostics. Sophia Genetics will bring us its expertise in clinical NGS data analysis to help validate the new test and enable it to become routine in a timely and a cost-effective way”.

About Sophia Genetics

Sophia Genetics, a European leader in Data Driven Medicine, brings together expertise in genetics, bioinformatics, machine learning and genomic privacy. Based in Switzerland, we are known for our high medical standards and Swiss precision when it comes to accuracy and quality management. Sophia Genetics offers health professionals who perform clinical genetic testing bioinformatics analysis, quality assurance, and secure banking of patient DNA sequence data generated by NGS. Sophia Genetics helps clinical laboratories to reduce the cost, overcome complexity and fulfil quality constraints related to the use of NGS in the clinic. For more information, visit

About the German Consortium of Hereditary Breast and Ovarian Cancer (Deutsches Konsortium für Familiären Brust- und Eierstockkrebs)


The German Consortium of Hereditary Breast and Ovarian Cancer (Deutsches Konsortium für Familiären Brust- und Eierstockkrebs) is a network of 15 major hospitals in Germany, which provide genetic counselling and diagnostic services for women at risk of carrying mutations linked to breast and ovarian cancer. The consortium also provides counselling and patient support services given the major life changing decisions associated with diagnosis, including procedures to remove breast tissue and/ or ovaries and fallopian tubing.


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