Sammanfattning
BACKGROUND New DNA-sequencing technology is revolutionising medical diagnostics. Through the use of exome sequencing, it is now
possible to sequence all human genes in parallel. This technology has been widely used in research over the last few years and is now also
being applied to diagnostics. The aim of this study was to systematically examine initial experiences with diagnostic exome sequencing in
Norway.
MATERIAL AND METHOD This is a retrospective observational study of the results of all exome sequencing performed by the Section of
Medical Genetics at Telemark Hospital between December 2012 and October 2014, and includes 125 persons in 46 families. The majority of
these families were being investigated for a syndrome (n = 35, 76 %) or neurological disease (n = 9, 20 %).
RESULTS Exome sequencing detected pathogenic sequence variants in 15 of 46 probands, and variants of unknown significance in 12
probands. Of the 100 patients who stated their wishes regarding feedback of any incidental findings, six indicated that they did not wish to
receive such information. There were no incidental findings in this study, but neither were such sequence variants actively looked for.
INTERPRETATION Exome sequencing can enable more patients with syndromes or neurological diseases to receive a causal diagnosis, and
to receive this diagnosis at an earlier stage. However, the patients in this study were quite highly selected, and the results must therefore be
interpreted with caution.