Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings

Abstract

Genomic sequencing technology is increasingly used in genetic research. Studies of informed consent for exome and genome sequencing (ES/GS) research have largely involved hypothetical scenarios or healthy individuals enrolling in population-based studies. Studies have yet to explore the consent experiences of adults with inherited disease. We conducted a qualitative interview study of 15 adults recently enrolled in a large-scale ES/GS study (11 affected adults, four parents of affected children). Our study had two goals: (1) to explore three theoretical barriers to consent for ES/GS research (interpretive/technical complexity, possibility of incidental findings, and risks of loss of privacy); and (2) to explore how interviewees experienced the consent process. Interviewees could articulate study goals and processes, describe incidental findings, discuss risks of privacy loss, and reflect on their consent experience. Few expected the study would identify the genetic cause of their condition. All elected to receive incidental findings. Interviewees acknowledged paying little attention to potential implications of incidental findings in light of more pressing goals of supporting research regarding their own medical conditions. Interviewees suggested that experience living with a genetic condition prepared them to adjust to incidental findings. Interviewees also expressed little concern about loss of confidentiality of study data. Some experienced the consent process as very long. None desired reconsent prior to return of study results. Families with inherited disease likely would benefit from a consent process in which study risks and benefits were discussed in the context of prior experiences with genetic research and genetic disease.

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

“…As such, inpatient pretest counseling was historically not provided by GCs. However, rES trio testing requires complex coordination and thorough pretest counseling, complicated by psychosocial considerations for parents of critically-ill infants (Bergner et al, 2014;Clift et al, 2015;Cornelis et al, 2016;Frankel, Pereira, & McGuire, 2016;Roche & Berg, 2015;Sapp et al, 2014).…”

Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age

“…This interest in receiving all results has also been observed among patients undergoing clinical diagnostic exome sequencing (28). Bergner et al (2014) suggested that individuals living with a genetic condition may feel that they are adequately prepared for additional genetic risks (17). However, other studies have shown that some participants distinguish between different types of results (18).…”

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

“…The need for such data has been emphasized as a crucial step to effectively implement WES in undiagnosed disorders (Facio et al 2014). Thus far, however, publications on parental/patient perspectives on WES have mostly focused on secondary/incidental findings (Abdul-Karim et al 2013;Bergner et al 2014;Clayton and McGuire 2012;Clift et al 2015;Green et al 2013;Hegde et al 2015;Jarvik et al 2014). The few studies that have examined parental perceptions of the primary WES results in childhood undiagnosed disorders reported that parents expressed a sense of responsibility in needing to pursue the WES and had positive expectations about learning the results (Krabbenborg et al 2016;Sapp et al 2014).…”