domingo, 31 de agosto de 2014

Predictive Genetic Testing for Adult-Onset Disord... [Clin Genet. 2014] - PubMed - NCBI

Predictive Genetic Testing for Adult-Onset Disord... [Clin Genet. 2014] - PubMed - NCBI

 2014 Jul 21. doi: 10.1111/cge.12460. [Epub ahead of print]

Predictive Genetic Testing for Adult-Onset Disorders in Minors: A Critical Analysis of the Arguments For and Against the 2013 ACMG guidelines.


The publication of the ACMG recommendations has reignited the debate over predictive testing for adult-onset disorders in minors. Response has been polarized. With this in mind, we review and critically analyze this debate. First, we identify long-standing inconsistencies between consensus guidelines and clinical practice regarding risk assessment for adult-onset genetic disorders in children using family history and molecular analysis. Second we discuss the disparate assumptions regarding the nature of whole genome and exome sequencing underlying arguments of both supporters and critics, and the role these assumptions play in the arguments for and against reporting. Third, we suggest that implicit differences regarding the definition of best interests of the child underlie disparate conclusions as to the best interests of children in this context. We conclude by calling for clarity and consensus concerning the central foci of this debate.
This article is protected by copyright. All rights reserved.


Child; DNA/ethics; Genetic Predisposition to Disease*; Genetic Testing/ethics; Genetic Testing/standards; Genomics/ethics; Genomics/standards; Incidental Findings*; Sequence Analysis

[PubMed - as supplied by publisher]

No hay comentarios: