Features of the Week
CDC paper: Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke et al. Genetics in Medicine 2013 Aug 1
CDC blog post: On the importance of a policy framework to guide an evidence-based approach to incorporate genome sequencing technology into health care and public health
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
Robert C. Green, et al. JAMA. 2013;310(4):365-366.
Mandatory extended searches in all genome sequencing: “incidental findings,” patient autonomy, and shared decision making
Lainie Friedman Ross, et al. JAMA. 2013;310(4):367-368.
Return of secondary genomic findings vs patient autonomy: Implications for medical care
Robert Klitzman, et al. JAMA. 2013;310(4):369-370.
Incidental swimming with millstones.
Stephen F. Kingsmore Sci Transl Med 17 July 2013
Recommendations for returning genomic incidental findings? We need to talk!
- Genetics in Medicine
- Published online
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 advance online publication 1 August 2013
Genet Med advance online publication 1 August 2013
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