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

Abstract

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.

Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS

“…This is particularly important given that research has shown that while this group is interested in and willing to undertake genetic testing, they have concerns about the implications of testing and the potential risks and limitations . An important limitation of the technology is that currently around 60% of paediatric patients do not get a diagnosis from GS which may lead to feelings of frustration and disappointment . Studies have also shown that age may play a factor in young people's understanding of genetics as well as whether there is a family history of a genetic condition .…”

“…This is particularly which may lead to feelings of frustration and disappointment. 24,25 Studies have also shown that age may play a factor in young people's understanding of genetics 26 as well as whether there is a family history of a genetic condition. 27 Using this measure, health professionals may be able to identify those young people that might have limited knowledge or misunderstandings about WGS and who may therefore require more in-depth counselling or information provision.…”

Legacies and Relationships: Diverse Social Networks and BRCA1/2 Risk Management Decisions and Actions

“…Contributing factors include biological and legal ties, geographic and emotional proximity, and assumptions about risk status (Dancyger et al, 2010; Koehly, 2017; Padamsee, Muraveva, Yee, Wills, & Paskett, 2017; Rodriguez, Corona, Bodurtha, & Quillin, 2016; Sinicrope et al, 2009). What information is shared, and when, may be influenced by the developmental capacity of the information recipient and emotional valence of the relationship (Dancyger et al, 2011), and could lead to incomplete, inaccurate, or delayed information sharing (Werner-Lin, Zaspel, et al, 2018; Young et al, 2017).…”

Health professionals’ practice for young people with, or at risk of, Li–Fraumeni syndrome: An Australasian survey

“…Genetic and oncology health professionals must concurrently contend with the clinical complexity of LFS—with its varied, difficult‐to‐manage phenotype—and the normative developmental changes that impact how individuals at high risk of cancer live with LFS in family life from a young age. These changes center around growing capacity for autonomous decision‐making regarding genetic testing, with varying levels of family involvement; cognitive capacity to understand the short‐ and long‐term implications of genetic testing and risk management; decision‐making and engagement with risk management and/or risk‐reducing strategies; health literacy; how they identify, label, and manage emotional responses; existential awareness; and confidence in navigating the healthcare system (Duncan & Young, ; Forbes Shepherd et al, ; Pichini et al, ; Werner‐Lin et al, ). Similar clinical and psychosocial challenges are also common for other early‐onset multi‐organ conditions with complex screening protocols, for example, von Hippel–Lindau syndrome (VHL), multiple endocrine neoplasia 1 (MEN1), neurofibromatosis, constitutional mismatch repair deficiency (CMMRD), and emerging conditions like DICER1 syndrome.…”