French hospital uses Sophia DDM Platform to improve diagnostic testing of congenital disorders

Oct 24 2014

The Hospices Civils de Lyon, the second-largest University Hospital Network in France, has elected to use the Sophia Genetics Data Driven Medicine (DDM) Platform to support improvements in diagnostic testing for patients suffering from congenital disorders.

Clinical laboratories at the Hospital Network are currently well-equipped with the latest Next Generation Sequencing (NGS) technologies. Now, the Sophia DDM Platform will enable quicker and more cost effective NGS-based clinical tests, meaning quicker results for patients with chronic health disorders such as Cardiomyopathy, Cardiac Arrhythmia, Nephropathy and Familial adenomatous polyposis. At the same time, the Sophia NGS Validation Programme will facilitate laboratory compliance at the Hospices Civils de Lyon with ISO standard 15189.

The award of the contract means that labs at all 14 multidisciplinary hospitals in the Hospices Civils de Lyon network gain access to larger datasets and knowledge sharing via the Sophia Clinical Community. This resource allows clinicians to resolve difficult questions regarding Variants of Unknown Significance (“VUS”).

Sophia’s algorithms are constantly improved as new data is added by those using the technology. Via the Sophia Clinical Community, labs can see variants flagged as pathogenic by other community members, but which are still unresolved in publicly available data. Clinicians may also choose to ask community members for second opinions to help with difficult cases. Importantly, the Sophia Clinical Community does all of this whilst offering the strictest controls on privacy and security of patient’s genetic data.

Commenting on the announcement, Jurgi Camblong, CEO of Sophia Genetics, said:

As more and more institutions adopt Sophia DDM, we are supporting not only the standardisation of NGS data analyses to reach clinical grade results, but also pooling knowledge through the Sophia Clinical Community on the classifications of variants of unknown significance. This is an essential next step to enable better and faster analysis of the increasing number of variants detected in NGS data, resulting in more accurate clinical diagnosis.

Earlier this summer in France, the Cancer Genetics Platform of University Hospital of Dijon (CHU Dijon) and the Oncogenetics Service of University Hospital of Nancy (CHU Nancy) also adopted the Sophia DDM Platform. At CHU Dijon, Sophia’s DDM Platform enables the simultaneous detection and analysis of multiple druggable mutations (biomarkers) from frozen and FFPE tumor samples of several types of cancer in a single NGS experiment. Replicate analysis has demonstrated consistent detection of mutations at as low as 1% variant fraction.

At CHU Nancy, the Oncogenetics Service was able to fully transition its BRCA testing from Sanger to NGS in a short timeframe. Myriam Bronner, Ingénieur Hospitalier at CHU Nancy’s Genetics Lab, said:

The Sophia DDM Platform has been a great help in our NGS-based BRCA analysis and contributed a lot to reducing our turnaround time.