The benefits and risks of wanting it all: how parents plan to manage their childrens exome sequencing results. J. Yu1, J. Crouch2, A. A. Lemke2, A. G. Shankar1, K. M. Dent3, M. J. McMillin1, S. M. Jamal1, M. J. Bamshad1,4,5, H. K. Tabor1,2 1) Department of Pediatrics, University of Washington, Seattle, WA; 2) Seattle Children's Research Institute, Seattle, WA; 3) Department of Pediatrics, University of Utah, Salt Lake City, UT; 4) Seattle Children's Hospital, Seattle, WA; 5) Department of Genome Sciences, University of Washington, Seattle, WA.
Increasing clinical and research use of exome sequencing (ES) and whole genome sequencing (WGS) make it possible to identify all known pathogenic and risk variants in a child, including those for adult onset conditions. This raises questions about how to manage these results, including which information parents want, how they would like to manage it, what they plan to use it for, and whether they plan to share the information with their children. We conducted semi-structured interviews with 26 parents (one parent per family) of children who had undergone ES as a part of research studies of both Mendelian and complex conditions, and who were enrolled in an ongoing study on return of secondary results. The majority of parents (92%) wanted all available secondary results. Most parents expressed awareness of the potential negative psychosocial impacts of receiving bad or unexpected news and the uncertain meaning of some genetic information. They reasoned that access to potentially informative results trumped these risks and that receiving such results was part of being a good parent. Specific motivations for receiving secondary results included mitigating future disease risks through health care or lifestyle changes, managing potential adverse reactions to medications, planning for future disease, even if no intervention was available, and planning for their childrens future quality of life and social services. Most parents also planned to use secondary results for reproductive planning for themselves, their affected and healthy children, and extended family members. Parents planned to disclose positive results to their children during childhood, but deferred disclosure of results about adult-onset conditions to protect their children from psychosocial harms and preserve their autonomy. Involving their children in results disclosure now and again in the future was perceived as an opportunity to partner in managing their childs health and, overtime, shift responsibilities from parent to child. These findings demonstrate that parents can weigh the risks and benefits of receiving secondary results about their children and plan to manage their childrens results to maximize benefits and minimize risks for their children. These results challenge conventional thinking and guidelines about the ability of parents to manage and accommodate results from their children and in turn underscore the importance of using empirical data to inform policy.
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