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.
Originalsprog | Engelsk |
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Tidsskrift | Ugeskrift for Laeger |
Vol/bind | 181 |
Udgave nummer | 7A |
ISSN | 0041-5782 |
Status | Udgivet - 1 apr. 2019 |