How to Cite this Article: Tabor HK, Stock J, Brazg T, McMillin MJ, Dent KM, Yu J-H, Shendure J, Bamshad MJ. 2012. Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet Part A. 158A:1310–1319.
Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms†
Article first published online: 24 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 6, pages 1310–1319, June 2012
How to Cite
Tabor, H. K., Stock, J., Brazg, T., McMillin, M. J., Dent, K. M., Yu, J.-H., Shendure, J. and Bamshad, M. J. (2012), Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am. J. Med. Genet., 158A: 1310–1319. doi: 10.1002/ajmg.a.35328
- Issue published online: 17 MAY 2012
- Article first published online: 24 APR 2012
- Manuscript Accepted: 11 JAN 2012
- Manuscript Received: 30 AUG 2011
- NIH. Grant Numbers: 5ROOHG0043164, 1RO1HD048895, 1UL1RR025014
- whole genome sequencing;
- informed consent;
- results return;
- participant preferences
Scientific evidence on the extent to which ethical concerns about privacy, confidentiality, and return of results for whole genome sequencing (WGS) are effectively conveyed by informed consent (IC) is lacking. The aim of this study was to learn, via qualitative interviews, about participant expectations and perceptions of risks, benefits, and harms of WGS. Participants in two families with Miller syndrome consented for WGS were interviewed about their experiences of the IC process and their perceptions of risks, benefits, and harms of WGS. Interviews were transcribed and analyzed for common themes. IC documents are included in the Supplementary Materials. Participants expressed minimal concerns about privacy and confidentiality with regard to both their participation and sharing of their WGS data in restricted access databases. Participants expressed strong preferences about how results should be returned, requesting both flexibility of the results return process and options for the types of results to be returned. Participant concerns about risks to privacy and confidentiality from broad sharing of WGS data are likely to be strongly influenced by social and medical context. In these families with a rare Mendelian syndrome, the perceived benefits of participation strongly trumped concerns about risks. Individual preferences, for results return, even within a family, varied widely. This underscores the need to develop a framework for results return that allows explicitly for participant preferences and enables modifications to preferences over time. Web-based tools that facilitate participant management of their individual research results could accommodate such a framework. © 2012 Wiley Periodicals, Inc.