Informed Consent for Pediatric Full Genome Sequencing Research: Challenges for Adolescents and Opportunities for Social Work

Purpose: In 2010, the National Institutes of Health funded the Clinical Sequencing Exploratory Research (CSER) program to investigate clinical, ethical and psychological end points of full genome sequencing across medical settings. This promising, cost-effective option for genetic diagnosis enables examination of most human genes to identify the cause of a condition. Such testing may yield “incidental” findings: unrelated mutations identified during sequencing with significant and sometimes uncertain medical implications. Some incidental findings may be returned to families automatically, while families are given a choice whether to learn about others.  Little is known about how families understand and make choices about such findings when they consent to genomic testing. Consideration of incidental findings for adolescents, a group undergoing rapid developmental change, is further complicated by questions about their capacity to participate in decisions about such testing. This study explored adolescents’ experiences with informed consent (IC) for genomic sequencing offered through one of the CSER projects.

Methods: Investigators recruited children with unexplained hearing loss, cardiac arrhythmias, mitochondrial disease, and intellectual disability. Families completed an IC session with study physicians and/or genetic counselors. Sessions were digitally recorded and lasted up to 90 minutes. For this report, researchers identified 19 sessions, drawn from the cardiac and mitochondrial disease cohorts, that included adolescents aged 12 and over. Two investigators independently analyzed a subset of transcripts using grounded theory’s ‘constant comparative’method. Investigators came together to discuss and define a provisional list of codes pertinent to adolescent experiences and behaviors in the IC session. All 19 transcripts were then analyzed using this codebook.

Findings: Adolescents aged 12-14 engaged less in IC sessions than older adolescents. Younger participants provided verbal and written assent, agreed implicitly with parent decisions about incidental findings, and restated study aims. Their participation was limited to discussion of concrete details (blood draws, monetary incentives, etc.). Adolescents aged 15 and older raised their own questions or concerns about the study and engaged in (sometimes vigorous) dialogue with parents and providers. Older teens appeared to understand the implications of learning incidental findings for the present (e.g. sports, medical treatments) and for the future (e.g. reproductive decisions). Some teens, overwhelmed by the implications of incidental findings, looked to parents for guidance. In two cases of significant disagreement, adolescents advocated for their interests, and both providers and parents deferred to the adolescents’ requests for further time to discuss incidental findings outside the IC setting.

Conclusions: Older adolescents were observed to engage with the complex information involved in IC for genomic sequencing research, but also looked to parents for support with decision-making. Adolescent capacity to participate in IC decisions may be considered on a continuum, given the range of developmental changes to cognition, identity, and autonomy during these years.

Implications: As the use of genetic sequencing technology matures, social workers on interdisciplinary healthcare teams may be charged with helping adolescents and their families negotiate research and clinical testing, understand the scope and challenges of IC sessions, and cope with incidental findings beyond the research setting described here.