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Genomic medicine as consumer goods

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@article{4cf71019509b471399f38741acc80e8f,
title = "Genomic medicine as consumer goods",
abstract = "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.",
author = "Lasse Folkersen and Thomas Werge",
year = "2019",
month = "4",
day = "1",
language = "English",
volume = "181",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "7A",

}

RIS

TY - JOUR

T1 - Genomic medicine as consumer goods

AU - Folkersen, Lasse

AU - Werge, Thomas

PY - 2019/4/1

Y1 - 2019/4/1

N2 - 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.

AB - 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.

M3 - Journal article

VL - 181

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 7A

ER -

ID: 58594780