title: Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients.
abstract: Next-generation sequencing is increasingly being chosen as a diagnostic tool for cases of expected genetic, but unresolved origin. The consequential increased need for decisions on disclosure of unsolicited findings poses a challenge for the informed consent procedure. This study explored the first experiences with, and needs for, the informed consent procedure in diagnostic exome sequencing, with the stakeholders involved. Semi-structured interviews were conducted with 11 professional experts and one professional gave a written response. Furthermore, the counseling process was observed in three cases where exome sequencing was offered, followed by interviews with the patient (representative) and the genetic counselor. The respondents not only preferred an opt-out for unsolicited findings but also identified many challenges and therefore more experiences with exome sequencing was considered needed. Context-dependent decision-making was observed and an Advisory Board for unsolicited findings was considered helpful while doubts were raised about the feasibility and the possibility of undermining patients' autonomy. Finally, respondents brought up the complexity of information provision, and division of responsibilities between clinicians and the lab. These challenges and needs, raised by stakeholders involved, provide more insight in the next steps needed for an optimal informed consent procedure for exome sequencing in diagnostics.
authors.affiliation: Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: T
authors.initials: T
authors.lastname: Rigter
authors.forename: C J A
authors.initials: CJ
authors.lastname: van Aart
authors.forename: M W
authors.initials: MW
authors.lastname: Elting
authors.forename: Q
authors.initials: Q
authors.lastname: Waisfisz
authors.forename: M C
authors.initials: MC
authors.lastname: Cornel
authors.forename: L
authors.initials: L
authors.lastname: Henneman
mesh_terms: D003657:Decision Making; D059472:Exome / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D033162:Incidental Findings; D007258:Informed Consent; D057089:Pathology, Molecular; D010361:Patients
keywords: exome sequencing; high-throughput nucleotide sequencing; incidental findings; informed consent; molecular diagnostics; qualitative research; unsolicited findings