Reflecting on earlier experiences with unsolicited findings: Points to consider for next generation sequencing and informed consent in diagnostics
Rigter, Tessel × Henneman, Lidewij Kristoffersson, Ulf Hall, Alison Yntema, Helger G Borry, Pascal Tönnies, Holger Waisfisz, Quinten Elting, Mariet W Dondorp, Wybo J Cornel, Martina C #
John Wiley & Sons, Inc.
Human mutation vol:34 issue:10 pages:1322-1328
High-throughput nucleotide sequencing (often referred to as next generation sequencing) 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 next generation sequencing 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 next generation sequencing 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. This article is protected by copyright. All rights reserved.