SPHN: A national network for genomic medicine and its data

Genomic medicine promises great potential, but Switzerland lags behind comparable countries in exploiting this potential. In order to close this gap, SPHN is creating infrastructural foundations for the establishment of a Swiss Federated Genomics Network (SFGN) in close cooperation with its network partners. Two projects have recently been launched to establish the infrastructure for the exchange of genomic data and for a reference dataset. Key to success is trusting collaboration and responsible, efficient access to data and biological samples. (This article is translated from the SAMW Bulletin 2/2023 - SAMW Bulletin)

Research in human and population genomics has made tremendous progress in recent years. The resulting findings improve our understanding of the mechanisms of diseases and support the stratification of patients based on their genetic predisposition. Accordingly, the use of genomic data in medicine and prevention is steadily increasing and genome analyses will soon be considered an integral part of advanced healthcare systems in Switzerland as well.

Numerous countries around the world recognized the central role of genomics for personalized health and medicine at an early stage and created important foundations for making advances in genome research available to the population. In order to exploit this potential in Switzerland, rapid action and good coordination of measures and research infrastructures at the national level are required. On the one hand, to develop an appropriate and sustainable infrastructure to support collaborative genome research, so that researchers and medical professionals have efficient, secure and regulated access to genomic data. And on the other hand, to make de-identified data and knowledge about the genetic structure of the Swiss population widely available.

Building a Swiss genomics network

Based on extensive preliminary work, SPHN launched the establishment of the Swiss Federated Genomics Network (SFGN) in 2022 in collaboration with the PHRT programme of the ETH Domain, SIB Swiss Institute of Bioinformatics, Health 2030 Genome Center and the Swiss Biobanking Platform. Its aim is to support genome research in Switzerland and accelerate its integration into clinical practice by creating the conditions and infrastructure for a national genomics strategy. Close networking and cooperation with the corresponding service facilities of the universities, hospitals and research institutions is central to this and is envisaged as a supporting pillar of the strategy.

Two projects have already been launched to build up the network:

1. an infrastructure that supports the scalable collection, processing and exchange of genomic data, including a FAIR* repository for the reuse of data.
2. a national genomic reference dataset ("Genome of Switzerland") that demonstrates the standardized production and sharing of genomic data on a large scale. This will also enable Switzerland to participate in the development of a continental genomic infrastructure and a pan-European reference dataset ("Genome of Europe") and to offer a hand to other international initiatives and collaborations in genomic medicine.

Cooperation based on trust is essential

An indispensable prerequisite for sustainable infrastructures, FAIR reference data and the successful implementation of a national genomics strategy is the trusting cooperation of all relevant actors as well as compliance with regulatory requirements, especially data protection. The Swiss research landscape offers many strengths and international excellence, which must be brought together to realize overarching goals and create common benefits; to strengthen Switzerland as a research location and, above all, to further improve patient care.

Data and biological samples - freed from particular interests and silos - should be shared and made accessible as widely as possible, responsibly and in accordance with ethical and legal requirements. To avoid duplication and generate synergies, it is important that everyone contributes with their expertise where the greatest benefit is created. The synergies of a Swiss Federated Genomics Network with cohort studies - including the national cohort & biobank (read more in the latest SAMS Bulletin - SAMW), the Swiss Molecular Omics Centers, the Swiss Data Science Center of the ETH domain and many other research infrastructures are obvious. The data resources created in this way represent an immense treasure that must not go unused in view of the potential of genome research for Personalized Health and Medicine.

More information on SPHN and the projects mentioned can be found online: https://sphn.ch

* The FAIR principles require that data be findable, accessible, interoperable and reusable. Sensitive health data cannot be openly accessible to third parties, but taking into account legal requirements, the data should be FAIR, including reproducibility and sustainability. The main goal of the FAIR principles is the optimal preparation of research data for reuse by humans and machines.