sphn logoDesigned to promote the development of personalized health in Switzerland, the SPHN initiative will lay the foundations to foster research projects in this area, including mechanisms facilitating the nationwide exchange of health-related data. In this context, SIB has been mandated to run SPHN’s Data Coordination Centre (DCC) and is managing the BioMedIT project.

The DCC aims to establish nationwide interoperability of health-related information by building a dynamic scalable network of distributed data providers based on common standards for formats, semantics, exchange mechanisms, and harmonized governance processes. The BioMedIT project will establish a coordinated network of competence centres (regional nodes) at Swiss universities, providing secure infrastructure and support for biomedical research and clinical bioinformatics. BioMedIT builds on existing infrastructure and competences at Switzerland’s scientific computing core facilities coordinated by SIB.

Green light to move towards a national data infrastructure for genomic variant information

Clinicians are confronted in their daily practice with the challenge of interpreting genetic variants using an increasing number of public knowledge sources, which provide information of heterogeneous quality. Over the last years, next generation sequencing has indeed become a routine technology for the diagnosis of cancer patients.

Swiss hospitals and SIB have decided to join forces to develop a common infrastructure allowing hospitals to share and unify the clinical interpretation of the genetic variants identified in their patients all over Switzerland.

In the frame of BioMedIT, an implementation plan has been developed by the SIB Clinical Bioinformatics group in collaboration with Vital-IT and SIS (ETH Zürich), which has been approved by the BioMedIT board* at its last meeting. The project has been made possible thanks to the commitment and strong support of Swiss hospitals, institutes and medical societies** who have agreed to share their know-how and expertise for the benefit of the patients.

This infrastructure will be established under the security policy and ELSI guidelines of SPHN and federate variants detected in patients across the country with well-characterized and clinically-validated phenotypic information. The input by the hospitals will be reconciled and curated by SIB, and validated by a panel of designated experts to ensure a consensus variants interpretation is provided.

This platform at the national level will facilitate and therefore speed up the process of annotating and prioritizing molecular targets by pathologists, ensuring a more rapid, uniform and accurate diagnosis across Switzerland.


* The board is composed of Torsten Schwede, Director of the DCC/BioMedIT projects (Group Leader of SIB Personnalized Health Informatics group), Christine Durinx, Associate Director of SIB, Patrick Ruch, co-PI of the initial project, and the directors of the core facilities participating in the infrastructure building: Ioannis Xenarios, for Vital-IT representing Lausanne, Geneva and Bern, Thierry Sengstag for sciCORE in Basel, Marcel Riedi for S3IT at University of Zurich and Bernd Rinn representing Scientific IT Services (SIS) at ETHZ.

**The following institutions are participating to the national data infrastructure for genomic variant information: Bern University Hospital, Department for BioMedical Research, University Bern, Geneva University Hospital, Lausanne University Hospital, Locarno Institute of Pathology, Personalized Health Basel, St Gallen Cantonal Hospital, Swiss Society of Molecular Pathology, Swiss Society of Pathology, Zurich University Hospital.