title: Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.
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.
authors.affiliation: Department of Clinical Genetics, Section of Community Genetics and the EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Tessel
authors.initials: T
authors.lastname: Rigter
authors.forename: Lidewij
authors.initials: L
authors.lastname: Henneman
authors.forename: Ulf
authors.initials: U
authors.lastname: Kristoffersson
authors.forename: Alison
authors.initials: A
authors.lastname: Hall
authors.forename: Helger G
authors.initials: HG
authors.lastname: Yntema
authors.forename: Pascal
authors.initials: P
authors.lastname: Borry
authors.forename: Holger
authors.initials: H
authors.lastname: Tönnies
authors.forename: Quinten
authors.initials: Q
authors.lastname: Waisfisz
authors.forename: Mariet W
authors.initials: MW
authors.lastname: Elting
authors.forename: Wybo J
authors.initials: WJ
authors.lastname: Dondorp
authors.forename: Martina C
authors.initials: MC
authors.lastname: Cornel
mesh_terms: D003657:Decision Making / Q000941:ethics; D030881:Disclosure / Q000941:ethics; D005820:Genetic Testing / Q000941:ethics* / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000941:ethics*; D006801:Humans; D007258:Informed Consent / Q000941:ethics*; D028701:Patient Rights
keywords: diagnosis; high-throughput nucleotide sequencing; incidental findings; informed consent; unsolicited findings