title: Experiences with obtaining informed consent for genomic sequencing.
abstract: Despite the increased utilization of genome and exome sequencing, little is known about the actual content and process of informed consent for sequencing. We addressed this by interviewing 29 genetic counselors and research coordinators experienced in obtaining informed consent for sequencing in research and clinical settings. Interviews focused on the process and content of informed consent; patients/participants' common questions, concerns and misperceptions; and challenges to obtaining informed consent. Content analysis of transcribed interviews revealed that the main challenges to obtaining consent related to the broad scope and uncertainty of results, and patient/participants' unrealistic expectations about the likely number and utility of results. Interviewees modified their approach to sessions according to contextual issues surrounding the indication for testing, type of patient, and timing of testing. With experience, most interviewees structured sessions to place less emphasis on standard elements in the consent form and technological aspects of sequencing. They instead focused on addressing misperceptions and helping patients/participants develop realistic expectations about the types and implications of possible results, including secondary findings. These findings suggest that informed consent sessions should focus on key issues that may be misunderstood by patients/participants. Future research should address the extent to which various stakeholders agree on key elements of informed consent.
authors.affiliation: Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Bernhardt
authors.affiliation: Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina.|Department of Genetics, University of North Carolina, Chapel Hill, North Carolina.
authors.forename: Myra I
authors.initials: MI
authors.lastname: Roche
authors.affiliation: Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Denise L
authors.initials: DL
authors.lastname: Perry
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
authors.forename: Sarah R
authors.initials: SR
authors.lastname: Scollon
authors.affiliation: Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Ashley N
authors.initials: AN
authors.lastname: Tomlinson
authors.affiliation: FPG Child Development Institute, University of North Carolina, Chapel Hill, North Carolina.
authors.forename: Debra
authors.initials: D
authors.lastname: Skinner
mesh_terms: D015894:Genome, Human; D006282:Health Personnel; D006801:Humans; D007258:Informed Consent; D010465:Perception; D017422:Sequence Analysis, DNA / Q000379:methods*
keywords: genetic counseling; genetic testing; genomic sequencing; informed consent; qualitative research