Parents' Preferences for Return of Results in Pediatric Genomic Research

Abstract

Background: The aim of this study was to ascertain parental preferences for the return of genetic research results on themselves and their children and their choices for genetic research results to receive. Methods: A mail survey was sent to 6,874 families seen at Boston Children's Hospital. The survey included questions assessing the respondents' preferences regarding the types of result they wanted to receive on themselves and their children. Results: Most of the 1,060 respondents ‘probably' or ‘definitely' wanted to receive genetic research results about themselves (84.6%) and their children (88.0%). Among those who wanted to receive results, 83.4% wanted to receive all research results for themselves and 87.8% for their children. When questions about specific types of research results were combined into a composite measure, fewer respondents chose to receive all results for themselves (53.5%) and for their children (56.9%). Conclusion: Although most parents report a desire to receive all research results on a general question, almost half chose to receive only a subset of research results when presented with specific types of research results. Our findings suggest that participants might not understand the implications of their choice of individual research results to receive unless faced with specific types of results.

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

“…Indeed, most patients and research participants wish to receive all secondary findings when presented with hypothetical scenarios. 44,45, 46 However, others may raise concerns about what WES/WGS might find, and whether that information would be helpful, particularly if there is no ability to prevent disease expression. In the MedSeq Project, WGS revealed a secondary finding with disease risk in 12% of patients (5/41).…”

Adolescent perspectives on the return of individual results in genomic addiction research

“…The ethical duty to RIR, when appropriate, rests upon the principles of respect for persons and protection from harm (Holm et al, 2014; Avard et al, 2011). Clinical utility, misunderstanding of results, potential for emotional harm, limited access to trained clinicians, and potential loss of confidentiality are barriers to RIR (Ziniel et al, 2014; Ramoni et al, 2013). …”

“…A study of parents with children in a biobank reported that most endorsed RIR, even for severe or untreatable diseases, citing reasons of personal utility (Ziniel et al, 2014; Harris et al, 2012). Views of parents of children affected by cancer and other diseases expressed enthusiasm for RIR, irrespective of disease severity (Fernandez et al, 2014; Kleiderman et al, 2014).…”

Return of individual results in epilepsy genomic research: A view from the field

“…However, the original EPGP consent form stated that participants would receive no individual benefits and did not offer them a choice to receive individual results. Thus, although research consistently shows that most participants want to receive findings, and many EPGP participants ask for results despite the consent form's statement that they would not be offered, we have no information about the specific preferences of most of the participants in our study. The challenge we face is how to offer results (which may have clinical or personal utility, and which we believe most participants will want to receive), without causing harm to participants who do not want to receive them.…”

“…Disclosure is increasingly viewed as an ethical obligation, based on fundamental ethical principles such as beneficence, respect for persons, reciprocity, and justice . Moreover, empirical research shows that most participants want to receive individual research results, for both themselves and their children . Consequently, new approaches have been developed that prioritize participant preferences, and even allow them to control their own return of results …”