domingo, 6 de abril de 2014

Recommendations for returning genomic incidental findings? We need to talk! : Genetics in Medicine : Nature Publishing Group

Recommendations for returning genomic incidental findings? We need to talk! : Genetics in Medicine : Nature Publishing Group



Return of Incidental Findings in Medical Sequencing: Opt-out Update

hand holding sequencing
ACMG changes recommendations on incidental findings and opting out,External Web Site Icon  by Allison Proffitt,  April 1, 2014  BIOIT World
CDC paper: Recommendations for returning genomic incidental findings? We need to talk!External Web Site Icon
Wylie Burke et al. Genetics in Medicine (2013)
Finding common groundExternal Web Site Icon
James P. Evans. Genet Med 2013; 15: 852-853

Recommendations for returning genomic incidental findings? We need to talk!

Genetics in Medicine
 
(2013)
 
15,
 
854–859
 
doi:10.1038/gim.2013.113
Received
 
Accepted
 
Published online 

Abstract

The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.
Genet Med 15 11, 854–859.

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