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Wiley, Human Mutation: Variation, Informatics and Disease, 3(36), p. 283-286, 2015

DOI: 10.1002/humu.22748

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Can We Afford to Sequence Every Newborn Baby's Genome?

Journal article published in 2014 by Jacques S. Beckmann ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Data provided by SHERPA/RoMEO

Abstract

Whole exome and genome sequencing are gradually entering into the clinical arena. Drops in sequencing prices have led some to suggest that these analyses could be extended to the screening of whole populations or subsets thereof. Herein we argue that this optimism is presently still unfounded. While cost estimates take into account the generation of sequence data, they fail to properly evaluate both the price of accurate and efficient interpretation and of the proper return of genomic information to the consulting individuals. Thus, short of inventing new, cost-effective ways of achieving these goals, the latter are likely to ruin our healthcare systems. We posit that due to lack of available resources, generalization of this practice remains, for the time being, unrealistic.This article is protected by copyright. All rights reserved