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Diagnostics Development


Clinical Diagnostics

A new national platform for Next-Generation Diagnostics (NGD) has been established at SciLifeLab Stockholm and Uppsala to facilitate the translation of new high-throughput (HTP) techniques, such as next-generation sequencing (NGS), microarray-based analyses and multiplex protein analysis, in biological samples into clinical use. The overall aim for the platform is to meet clinical diagnostic needs in the health-care 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.

HTP technologies have a great potential to impact future set-up for clinical diagnostics, e.g. in diagnostics of cancer, cardiovascular diseases, inherited diseases and communicable diseases, since significantly more information can be provided by these technologies for each patient or 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 health-care requirements regarding rapid and secure handling and processing of data as well as accurate interpretation of test results.

To help the health-care and public health systems to overcome these challenges as well as to keep pace with the rapidly developing techniques, this platform will integrate technological, bioinformatics and clinical expertise to facilitate the application of HTP genomics and proteomics 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.

National platform steering board
Åke Borg, Chair (Lund University)
Richard Palmqvist (Umeå University)
Anna Wedell (Karolinska Institutet)
Tommy Martinsson (University of Gothenburg)
Lena Jonasson (Linköping University)
Andreas Matussek (Ryhov Hospital, Jönköping)

Platform directors
Richard Rosenquist Brandell,  Platform Director (Uppsala Universitet)
Agneta Siegbahn, Vice Platform Director (Uppsala Universitet)