Parent Perspectives on Pediatric Genetic Research and Implications for Genotype-Driven Research Recruitment

Abstract

As genetic research is increasingly conducted in children, it is important to understand how parents make decisions about enrolling their children and what they think about receiving their children’s genetic research results. We conducted semi-structured phone interviews with 23 parents of children enrolled in genetic studies of autism or diabetes. Qualitative thematic analysis focused on two important components of genetic research and genotype-driven recruitment: participation in genetic research and return of results. Our findings suggest that parents’ preferences and perspectives may be specific to their child’s disease and the needs of the family as a whole. Assessing the expectations of target research populations will be beneficial for developing best practices for pediatric genetic research, return of results, and genotype-driven recruitment.

Attitudes of parents toward the return of targeted and incidental genomic research findings in children

“…10,11 The empirical evidence to understand parental attitudes toward the sharing of genomic research results derived from research with children has just begun to be explored. [12][13][14][15] There is also considerable debate about the extent to which family members should be informed of potentially relevant genomic information gathered in a pediatric context. 16,17 We used the rich resource of three Canadian consortia [18][19][20] that primarily study children to examine parental attitudes toward the return of genomic results.…”

Respecting Autonomy Over Time: Policy and Empirical Evidence on Re‐Consent in Longitudinal Biomedical Research

“…42 Yet other commentators suggest that more advanced types of genetic research may be carried out without re-consent if similar genetic research was described in the original consent, as the goals, risks and benefits may be similar and therefore within the expectations of participants. 43 Similarly, DeCamp and Sugarman suggest that re-consent should occur before research into any topics considered 'controversial', such as 'violent behaviour', as it cannot be assumed that every participant would agree to be involved. 44 This obviously raises the question of what is controversial.…”

The ethics conundrum in Recall by Genotype (RbG) research: Perspectives from birth cohort participants

“…Here the ethical principle of autonomy (the basis of informed consent in contemporary research) is pitched against the 'right not to know' and the principle of non-maleficence (the precept to do no harm) 1 . This central tension in RbG research (also termed Genotype Driven Recruitment (GDR)) has been identified [2][3][4] in studies involving biobanks and other repositories that include participants with genotypic data collection, including disease and tissue-based biobanks [5][6][7] , population-based biobanks 5 and collections based on health records or direct to consumer testing 8 .…”

“…While careful not to conflate the issues of return of clinically useful findings (incidental findings) with disclosure of genetic information through recruitment, these studies point to a range of cognate issues that bear consideration: the need to avoid participant anxiety if the genetic information -or re-contact itself -is unexpected 2,8 ; the possibility that even uncertain information may be important to participants 7 ; and the challenge that informational utility includes personal utility and personal meaning as well as clinical utility, especially where there is parental, familial or personal experience of disease [5][6][7]9 .…”

“…Participants have had long-term relationships with their health care providers and researchers (who may have been one in the same) and often felt part of the 'team' working towards understanding and treatments for themselves, their family and the community affected by the disease 5,7 . Conversely, population-based biobank participants were more likely to be anxious about the disclosure of unexpected genetic information 5 .…”