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SWISSGENVAR

A PLATFORM FOR CLINICAL GRADE INTERPRETATION OF GENETIC VARIANTS TO FOSTER
PERSONALIZED HEALTH CARE IN SWITZERLAND.




 THE PROJECT

The SwissGenVar Platform aims at providing a national, joint, and curated
database for constitutional variants coming from Swiss medical genetics centers.
The project was launched in 2019, with the support of the Swiss Personalized
Health Network (SPHN, www.sphn.ch) initiative.



WHY SWISSGENVAR?

SwissGenVar aims to provide a high-quality and efficient platform for
harmonization and up-scaling of expert germline variant interpretation by
clinical genetic laboratories in Switzerland. This platform assures the
methodological and technical prerequisites for national data sharing and
international data interoperability and allows harvesting of consented data
generated during routine health care for research into personalized medicine.

SwissGenVar not only fosters harmonization and inclusion of diagnostic data, but
also data generated within research projects using genomic sequencing
approaches. This project thus provides a platform (currently accessible to the
project partners only) for: 

Nation-wide collection of genetic variants identified in patients by Swiss
clinical genetic laboratories in an consented interoperable data set with at
least a minimal set of non-identifying clinical data using the internationally
standardized Human Phenotype Ontology (HPO).

Accessibility of these expert-annotated variants for clinicians and researchers,
through an efficient, scalable, intuitive, and user-friendly platform,
integrated into the BioMedIT landscape of SPHN (Swiss Personalized Health
Network).

Sharing of evidence and variant interpretation by clinical genetic experts.


SWISSGENVAR WORKFLOW

The principle is that the medical genetics groups in Switzerland feed the system
with the variants they identify in their patients when using NGS for diagnosis.
The system then automatically gathers publicly available information from
selected data sources, and the clinical expert can add their additional
interpretation and findings to complete the genotype-phenotype description.
SwissGenVar to support also translational research SwissGenVar incorporates
variant information from other medical genetics-related platforms such as
ClinVar or GnomAD, to facilitate the interpretation of variants by medical
geneticists, to become the Swiss one-stop platform for the understanding of
constitutional variants.

The annotation of variants will also be accessible to researchers, as having
access to variants detected in patients with well-characterized and
clinically-validated phenotypic information is critical to better understand
disease aetiology, improve patient care and identify new drug targets. So far,
the platform is available to partner groups only. 

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© SIB Swiss Institute of Bioinformatics 2023