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Review
. 2013 Oct;34(10):1322-8.
doi: 10.1002/humu.22370. Epub 2013 Jul 16.

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

Tessel Rigter  1 , Lidewij Henneman, Ulf Kristoffersson, Alison Hall, Helger G Yntema, Pascal Borry, Holger Tönnies, Quinten Waisfisz, Mariet W Elting, Wybo J Dondorp, Martina C Cornel
Affiliations
Review

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

Tessel Rigter et al. Hum Mutat. 2013 Oct.

Abstract

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.

Keywords: diagnosis; high-throughput nucleotide sequencing; incidental findings; informed consent; unsolicited findings.

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Figures

Figure 1
Figure 1
Cooperation and communication between different parties involved in the informed consent procedure for NGS in diagnostics.
See this image and copyright information in PMC

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