Use of My46 to return individual research results to families of children with Joubert syndrome. S. M. Jamal1, A. G. Shankar1, J. Dempsey1, C. Isabella1, J. H. Yu1, J. Crouch2, T. M. Harrell1, M. J. Bamshad1,3, D. Doherty1, H. K. Tabor1,2 1) Department of Pediatrics, University of Washington, Seattle, WA; 2) Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA; 3) Department of Genome Sciences, University of Washington, Seattle, WA.
The application of exome and whole genome sequencing in research has led to the increased identification of clinically important primary findings to be returned to participants and families. Yet, the requisite time, labor and expertise to recontact participants and return results remain important barriers. We offered primary research results to 47 families whose children were enrolled in a genetic research study of Joubert syndrome. Results were offered using My46 (http://www.my46.org), a web-based tool for return of genetic/genomic results that enables individuals to set their preferences for receiving results, read expert-curated, standardized information about conditions, and view results privately and at their convenience. Usability of, and satisfaction with, My46 were assessed using an online survey an average of 25 days after result receipt. Forty-three parents (91%) from 7 countries viewed their child(ren)s result and most (68%) completed the post-results survey. Four parents (9%) did not view their childs result, despite multiple prompts and offers of assistance. The median time from notification of result availability to result viewing was 6 days. Most (72%) parents were receiving genetic results for their child for the first time. Almost all (91%) indicated satisfaction with receiving results and did not express regret with their decision to receive results. Many (41%) had already shared and 50% intended to share the result with their healthcare provider. Three parents reported feeling upset by the result, yet each reported learning useful health information and none were dissatisfied with the result return method. Most (78%) were satisfied receiving the result via My46 and only 2 (6%) said that they did not receive enough information to understand the result. Five parents (16%) contacted the genetic counselor for clarification of result interpretation and next steps. The majority (84%) of parents would use My46 again, and 81% would recommend it to someone else as a way to receive genetic research results. The mean scores for a modified Computer System Usability Questionnaire were positive, on a scale of 1 to 5 (5 being most favorable): usefulness=3.55, information quality=3.50, and interface quality=3.43, with an overall score of 3.52. These results demonstrate that My46 can effectively and efficiently return genetic research results with high usability and satisfaction, even for families receiving genetic test results for the first time.
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