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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Genomic medicine as consumer goods

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  1. Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn.

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  2. Behandling af tymom og thymuskarcinom

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  3. Bilateral caput femoris-epifysiolyse efter epileptisk anfald

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  4. Kønsmodificerende kirurgi i Danmark

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  5. Osmotisk demyeliniseringssyndrom

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  1. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

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  2. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

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  3. Clinical association to FKBP5 rs1360780 in patients with depression

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  4. A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population

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  5. Genetic risk scores for major psychiatric disorders and the risk of postpartum psychiatric disorders

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In this review, current trends in personal genetics are covered. The main differences between the "classic" rare high-effect mutations vs the combined effects of thousands of common, low-risk variants are outlined, and then we provide examples of possible clinical use of microarray-based genetic measurements of rare high-risk mutations, and diagnosis-specific polygenic risk scores. The aim of this review is to discuss the possible clinical relevance vs the hyped and potentially harmful overinterpretations of direct-to-consumer genetics services.

Original languageEnglish
JournalUgeskrift for Laeger
Volume181
Issue number7A
ISSN0041-5782
Publication statusPublished - 1 Apr 2019

ID: 58594780