Abstract
To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized to participate in one of two encounters with a genetic counselor: a consent intervention using a lower literacy, less dense form or a standard consent encounter. Data were complete for 188 of 225 participants. The average time was 32 min for the intervention and 34 min for the standard, with the intervention encounter generating more questions from participants. At six weeks following consent, no differences were found between the two groups in primary outcomes: ‘sequencing benefits’ knowledge (d = 0.12, 95%CI: −0.03,0.27), ‘sequencing limitations’ knowledge (d = 0.04, 95%CI: −0.13,0.21), expected personal benefits (d = −0.01, 95%CI: −0.26,0.23), and decisional conflict (d = 0.04, 95%CI: −0.14,0.21). Although intentions to learn secondary variants were high, only 60% (113) of participants made an informed choice as defined by the multi-dimensional model of informed choice. We found that a modified consent intervention was as effective as a standard encounter and led to more interaction. Our data suggest that making decisions to receive secondary findings may be particularly challenging and in need of further investigation to achieve informed choice.
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Acknowledgements
We thank the women with POI and the NIH genetic counselors who participated in this study. This trial has been registered with ClinicalTrials.gov, trial number NCT01927770. This research was reviewed and approved by the National Human Genome Research Institute (NHGRI) and the National Institute of Child Health and Human Development (NICHD) Institutional Review Boards (IRBs) at the National Institutes of Health.
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Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health funded this study
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Turbitt, E., Chrysostomou, P.P., Peay, H.L. et al. A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study. Eur J Hum Genet 26, 622–630 (2018). https://doi.org/10.1038/s41431-018-0105-7
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DOI: https://doi.org/10.1038/s41431-018-0105-7
