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Når genomisk medicin bliver personlig

Forfatter(e)
Irene Kibæk Nielsen1, Henrik Bygum Krarup2 & Inge Søkilde Pedersen2, 3 1) Klinisk Genetisk Afdeling, Aalborg Universitetshospital 2) Afsnit for Molekylær Diagnostik, Aalborg Universitetshospital 3) Klinisk Institut, Aalborg Universitet

Ugeskr Læger 2019;181:V11180780
Reference: 
Ugeskr Læger 2019;181:V11180780
Blad nummer: 

Irene Kibæk Nielsen, Henrik Bygum Krarup &
Inge Søkilde Pedersen:

When genomic medicine becomes personal

Ugeskr Læger 2019;181:V11180780

Next-generation sequencing is a powerful diagnostic tool, and even though it is still of limited use in clinical practice, genome sequencing will be increasingly applied. Transition to wider genetic screening methods as clinical exome or genome sequencing has the potential to detect more variants of unknown significance as well as secondary findings. It calls for close cooperation between the laboratory geneticist and the medical geneticist. Pre- and post-test genetic counselling must be offered systematically, and always when there is a high risk of finding germ line variants.

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