Experience with obtaining informed consent for genomic sequencing: Developing recommendations for best practices. B. A. Bernhardt1, A. N. Tomlinson1, D. Lautenbach2, M. I. Roche3, S. R. Scollon4, D. Skinner3 1) University of Pennsylvania, Philadelphia, PA; 2) Brigham and Women's Hospital, Boston, MA; 3) University of North Carolina, Chapel Hill, NC; 4) Baylor College of Medicine, Houston, TX.
Background: Whole exome and genome sequencing (WES/WGS) are offered increasingly in research and clinical settings, yet there are no guidelines for obtaining informed consent (IC) for this testing. Methods: To develop guidelines, we conducted semi-structured telephone interviews with 30 experienced genetic counselors and research coordinators obtaining IC for WES/ WGS in 11 NIH-funded Clinical Exploratory Sequencing Research (CSER) Consortium projects, as well as in 7 diverse clinical settings. Interviews focused on experiences with and challenges to IC; patients common questions, concerns and misperceptions; and recommendations for IC. Results: Content analysis of transcribed interviews indicated that IC sessions varied between 15 and 70 minutes. Common reasons to decline testing include lack of insurance coverage (clinical settings), concerns about insurance discrimination and privacy, and feeling overwhelmed by the medical condition in the family. Nearly all opt for the return of all possible incidental findings. Patients/participants most common questions and concerns relate to practical details of the study or testing, the potential for insurance discrimination, data privacy protections, the implications of the results for their medical management and for relatives, and examples of conditions for which results are returned. Those obtaining IC concurred that sessions should focus on addressing areas of misperceptions and managing expectations. Specifically, participants/patients have unrealistically high expectations that they will learn a result that is diagnostic or immediately actionable and that they will personally benefit from testing. They tend to interpret negative results as excluding a genetic cause, do not anticipate uncertain results, and expect on-going analysis of stored data. With experience, most interviewees have learned to tailor the IC session content and process to patients needs and interests, leading them to conduct sessions as an open dialogue rather than a review of the consent form. Interviewees believe that their experience with reviewing and returning results has allowed them to better prepare participants for the potential types of results that can be learned. Conclusions: These data suggest that the experiences across multiple centers and from diverse projects have converged on common elements of IC and guidance for the process of IC. Recommendations for IC for genomic sequencing will be presented.
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