Informed Consent Procedures for Full Genome Sequencing in a Pediatric Cohort: Provider Approaches and Patient Dilemmas

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 and full exome sequencing. This promising technology enables examination of most human genes to identify the cause of a condition. In the research context, informed consent (IC) for genomic sequencing requires that providers introduce procedures, complex genomic concepts, and risks and benefits of participation, to families who are often struggling with severe conditions. Of particular interest to social work are IC procedures for families with adolescent patients who cannot legally consent to the research process, but who may experience distinct risks as a result of participating in such research. This study explored provider techniques for offering full exome sequencing to a pediatric population through one of the CSER projects. 

Methods: Investigators recruited children with unexplained cardiac arrthymias and mitochondrial disease. Families completed an IC session with study physicians and/or genetic counselors. Sessions lasted up to 90 minutes and were digitally recorded. Audiofiles were transcribed verbatim. For this report, researchers identified 19 sessions that included proband adolescents aged 12 and over. Using open coding, two investigators analyzed a subset of transcripts. Investigators discussed discrepancies and developed a shared list of codes addressing adolescent and provider perspectives and behaviors. All transcripts were then analyzed using this codebook.

Findings: Providers integrated directive and nondirective techniques to address the concerns of adolescents and their families in IC sessions. Providers employed directive techniques to address process variables in decision making (instructing families to listen to adolescent preferences, instructing families to review study brochures, requesting families discuss return of results outside the IC session). Providers employed non-directive techniques to enhance the family’s capacity to make decisions with which they felt most comfortable (defining terms of the study, explaining genetics, validating and normalizing family preferences). Often, providers vacillated between directive and non-directive techniques in the same segment of dialogue. When discussing ‘incidental findings’ [unrelated mutations identified during sequencing with significant and sometimes uncertain medical implications], providers reminded adolescent probands that their participation might have consequences for siblings and parents who could benefit from treatment/prevention for inherited conditions. In two cases of significant family disagreement, providers struggled to maintain a nondirective stance towards all parties, and excused themselves from the intense discussion by deferring decisions to a later date.

Conclusions: Providers are using a variety of techniques to elicit IC for full exome sequencing. The possibility of consenting for incidental findings introduces additional complexities, particularly when adolescents are asked to pioneer genomic sequencing on behalf of their families.  

Implications: Conventional approaches to IC may be insufficient to the risks, benefits, and possibilities offered by genomic technologies. The extent to which literacy, coping style, family dynamics impact provider strategies suggests the need for analysis across CSER projects. Social workers collaborating in genomic research are uniquely positioned to support provider discussion of emotionally charged decisions, to manage family distress, and to support autonomous decisions making as genomic technologies, and their associated complexities, evolve.