Diagnostics Development

Our national platform for Diagnostics Development (DD) was established to facilitate the translation of new high-throughput (HTP) techniques, such as next-generation sequencing (NGS), into clinical use. The overall aim of the platform is to meet the needs from translational researchers and clinicians in healthcare and public health systems by providing service and support at the national level in order to promote and adapt the use of HTP techniques in routine diagnostics. The platform has seven Clinical Genomics facility nodes, located at all Swedish universities with medical faculties (Gothenburg, Linköping, Lund, Stockholm, Umeå, Uppsala and Örebro). The nodes in Linköping, Umeå and Örebro were added in 2019 to ensure equal access to HTP technologies in the healthcare setting nationwide.

HTP technologies have a great potential to impact future set-up for clinical diagnostics, e.g. in diagnostics of cancer, inherited diseases and communicable diseases, since significantly more information can be provided by these technologies for each patient sample. Nevertheless, HTP technologies often involve complicated work-flows and specialized equipment that generate large amounts of data requiring specialized data analysis before interpretation. Thus, the clinical implementation of these techniques requires careful adaptation to healthcare requirements regarding rapid and secure handling and processing of data as well as accurate interpretation of test results.

To help healthcare and public health systems to overcome these challenges as well as to keep pace with the rapidly developing techniques, this platform integrates technological, bioinformatics and clinical expertise to facilitate the application of HTP genomics in diagnostics. An important aim for the platform is to disseminate up-to-date information about established assays/protocols and hence serve as a national competence center for HTP analysis in collaboration with hospitals and public health organizations throughout the country. A crucial aspect of this work is also to prepare national guidelines and ethical principles for interpretation of test results using these new technologies.

Platform director: Richard Rosenquist Brandell (Karolinska Institutet)

Vice platform director: Lucia Cavelier (Uppsala University)

Genomic Medicine Sweden

The Clinical Genomics facilities lay the foundation for Genomic Medicine Sweden (GMS), with the aim to give patients all over Sweden access to large-scale genomic analyses and thereby improve diagnostics and individualized treatment. The Clinical Genomics facility nodes work in close collaboration with GMS, taking part in the development of novel technologies to be implemented in routine clinical diagnostics.