Research participants’ views about the process to consent to participate in a genome sequencing study

Authors

• E Turbitt
• AR Heidlebaugh
• PP Chrysostomou
• HL Peay
• LM Nelson
• BB Biesecker

Abstract

Background: Due to the lowered cost, genome sequencing has become accessible for a greater number of medical researchers. Despite the increasing use of genome sequencing, inconsistencies in consent processes remain. Methods: A randomized controlled trial (RCT) of two consent interventions was carried out for an NICHD study enrolling women with Primary Ovarian Insufficiency. The RCT compared an evidence-based, short consent format, which allowed more interaction, to a “standard” consent format used in several NIH sequencing studies. A senior genetic counselor implemented consents by telephone. Participants completed a baseline and two follow-up surveys directly after the consent process and six weeks later. Surveys invited open-ended responses exploring participants’ expectations, concerns, hesitations and further questions. Data were coded and analyzed using content analysis. Results: Response frequency varied, from 100 to 209 participants. The major theme arising from the baseline survey was the expectation to learn information of personal benefit, including secondary findings. Most (N=171) decided to participate in the sequencing study prior to consent process, though noted it reassured and confirmed their decision (N=46), and the additional details about the study helped with this feeling of confirmation (N=55). On the follow-up surveys the major theme was anticipated anxiety about personal results, with participants randomized to the shortened consent format voicing this concern more often (N=22) compared to those receiving the “standard” consent (N=7). Discussion/Conclusion: Genome sequencing participants may have high expectations for receiving results of personal benefit. While many decide to participate prior to the consent process, the information provided is appreciated.

Scientific Focus Area: Social and Behavioral Sciences

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