domingo, 28 de julio de 2013

Genome Sequencing in Practice: Return of Incidental Findings


Genome Sequencing in Practice: Return of Incidental Findings

whole genome sequencing
Incidental swimming with millstones.External Web Site Icon
Stephen F. Kingsmore Sci Transl Med 17 Jul 2013: Vol. 5, Issue 194, p. 194ed10
Reflecting on earlier experiences with unsolicited findings: Points to consider for next generation sequencing and informed consent in diagnostics.External Web Site Icon
Rigter T, et al. Hum Mutat. 2013 Jun 19.
CDC blog post: On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptionalExternal Web Site Icon
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 makingExternal Web Site Icon
Lainie Friedman Ross, et al. JAMA. 2013;310(4):367-368.

Return of secondary genomic findings vs patient autonomy: Implications for medical careExternal Web Site Icon
Robert Klitzman, et al. JAMA. 2013;310(4):369-370.

Hum Mutat. 2013 Jun 19. doi: 10.1002/humu.22370. [Epub ahead of print]

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics.


Department of Clinical Genetics, Section of Community Genetics and the EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.


High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating informed consent for NGS in diagnostics from a multidisciplinary point of view. By exploring recent similar experiences with unsolicited findings in other settings, an attempt is made to describe what can be learned so far for implementing NGS in standard genetic diagnostics. The article concludes with a set of points to consider in order to guide decision-making on the extent of return of results in relation to the mode of informed consent. We hereby aim to provide a sound basis for developing guidelines for optimizing the informed consent procedure.
© 2013 The Authors. *Human Mutation published by Wiley Periodicals, Inc.


diagnosis, high-throughput nucleotide sequencing, incidental findings, informed consent, unsolicited findings

[PubMed - as supplied by publisher]
Free full text

No hay comentarios:

Publicar un comentario