Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results

• Published in: American journal of medical genetics. Part A Vol. 176; no. 3; pp. 578 - 588
• Main Authors: Werner‐Lin, Allison, Zaspel, Lori, Carlson, Mae, Mueller, Rebecca, Walser, Sarah A., Desai, Ria, Bernhardt, Barbara A.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.03.2018
• Subjects: Adaptation, Psychological; Adolescent; Adolescents; Adult; Child; Children; Cognitive ability; Cognitive Dissonance; Disclosure; exome sequencing; family communication; Fear; Female; Frustration; Genetic Counseling; Genetic Testing; Genome, Human; Genomes; Humans; Male; Middle Aged; Motivation; parents; Parents - psychology; Qualitative research; Surveys and Questionnaires; Uncertainty; Whole Exome Sequencing; Young Adult; genetic counseling; exome sequencing; qualitative research; family communication; adolescents; parents
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.38613

Clinical genome and exome sequencing (CGES) may identify variants leading to targeted management of existing conditions. Yet, CGES often fails to identify pathogenic diagnostic variants and introduces uncertainties by detecting variants of uncertain significance (VUS) and secondary findings. This study investigated how families understand findings and adjust their perspectives on CGES. As part of NIH's Clinical Sequencing Exploratory Research Consortium, children were recruited from clinics at the Children's Hospital of Pennsylvania (CHOP) and offered exome sequencing. Primary pathogenic and possibly pathogenic, and some secondary findings were returned. Investigators digitally recorded results disclosure sessions and conducted 3‐month follow up interviews with 10 adolescents and a parent. An interdisciplinary team coded all transcripts. Participants were initially disappointed with findings, yet reactions evolved within disclosure sessions and at 3‐month interviews toward acceptance and satisfaction. Families erroneously expected, and prepared extensively, to learn about risk for common conditions. During disclosure sessions, parents and adolescents varied in how they monitored and responded to each others reactions. Several misinterpreted, or overestimated, the utility of findings to attribute meaning and achieve closure for the CGES experience. Participants perceived testing as an opportunity to improve disease management despite results that did not introduce new treatments or diagnoses. Future research may examine whether families experience cognitive dissonance regarding discrepancies between expectations and findings, and how protective buffering minimizes the burden of disappointment on loved ones. As CGES is increasingly integrated into clinical care providers must contend with tempering family expectations and interpretations of findings while managing complex medical care.