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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. Selvmordsforebyggende klinikker for børn og unge med fokus på Region Hovedstaden

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  2. Epidemiologi for alkoholrelateret leversygdom

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  3. Skadelige konsekvenser af alkoholindtag blandt unge mennesker

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  4. Genetisk screening af adopterede raske individer

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  5. Genetisk screening af kommende forældre

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  1. Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

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  2. Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study

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  3. A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

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  4. Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families

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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