Ugeskr Læger 2014;176:V06140361
Medical genetics and the genome
Next Generation Sequencing, a remarkable progress in medical genetics, analyses the exome for disease-causing mutations (exome sequencing) especially in cases with genetic heterogeneity or cases where single gene approach has not revealed the diagnosis. Many unsolved questions exist such as unsolicited findings in genes not related to the patients’ symptoms or variants of unknown significance. Informed consent is crucial before analysis but post-test genetic counselling and strategies for reporting back results to family members are necessary.