Genomisk medicin som forbrugervare
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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Genomisk medicin som forbrugervare. / Folkersen, Lasse; Werge, Thomas.
I: Ugeskrift for Laeger, Bind 181, V11180789, 2019.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Genomisk medicin som forbrugervare
AU - Folkersen, Lasse
AU - Werge, Thomas
PY - 2019
Y1 - 2019
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.
KW - Community Participation
KW - Genetic Testing
KW - Genomics
KW - Humans
KW - Medicine
KW - Precision Medicine
M3 - Tidsskriftartikel
C2 - 30950382
VL - 181
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
M1 - V11180789
ER -
ID: 241225840