How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

Abstract

Aim This study provides preliminary data on the process and content of returning results from exome sequencing offered to children through one of the Clinical Sequencing Exploratory Research (CSER) projects. Materials & methods We recorded 25 sessions where providers returned diagnostic and secondary sequencing results to families. Data interpretation utilized inductive thematic analysis. Results Typically, providers followed a results report and discussed diagnostic findings using technical genomic and sequencing concepts. We identified four provider processes for returning results: teaching genetic concepts; assessing family response; personalizing findings; and strengthening patient–provider relationships. Conclusion Sessions should reflect family interest in medical management and next steps, and minimize detailed genomic concepts. As the scope and complexity of sequencing increase, the traditional information-laden counseling model requires revision.

Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

“…As the level of complexity in genetic testing increases, new communicative competences may be needed to secure patients' engagement and understanding. The use of scientific jargon, technical terms, and level of details conveyed to patients may sometimes be too pronounced 28 . The focus on providing information may overshadow the equivalently important task of addressing values, hopes, and concerns 29 .…”

Challenges to informed consent for exome sequencing: A best–worst scaling experiment

“…This study provides evidence for a unified view of intentions for approaching informed consent for exome sequencing, although additional research is needed to understand how these intentions translate into practice. Observations from a recent study of exome result return clearly demonstrated providers’ attempts to assess patient understanding, but found misunderstandings were not fully addressed and many of these sessions defaulted to information‐heavy communication (Walser et al, ). This work may be valuable to future research as a framework for assessing concordance between the stated priorities and content of actual consent sessions.…”

“…More experience with exome sequencing may also lead to increased comfort with discussions of uncertainty and provision of anticipatory guidance prior to results disclosure. As such, counselors can help patients to frame VUS results in a productive manner as they may represent possibilities for clarity and an opportunity for partnering with the care team (Walser et al, ).…”

“…Studies of communication about genetic testing have found that professional presentation of biomedical information often dominates the interaction, leading to limited patient participation (Paul, Metcalfe, Stirling, Wilson, & Hodgson, 2015;Roter, Ellington, Erby, Larson, & Dudley, 2006). Despite clear intentions and attempts to engage patients, discussions of exome sequencing have also been shown to be dominated by providers teaching genomics (Levenseller et al, 2014;Walser et al, 2017). This pattern may explain parents' reports that pretest counseling underemphasizes discussions of the aspects of testing they value, such as how results may impact daily life (Krabbenborg et al, 2016).…”

Optimizing genetics online resources for diverse readers

“…Details can be prioritized with information that patients are most interested in, such as management and next steps regarding their conditions. 28 Different forms of media such as videos and illustrations can be also utilized to make information easier to understand for diverse consumers. We propose that text readability could be improved in a scalable, automated fashion using NLP tools and public databases.…”