How do providers discuss the results of pediatric exome sequencing with families?. (September 2017)

• Record Type: Journal Article
• Authors: Walser, Sarah A; Werner-Lin, Allison; Mueller, Rebecca; Miller, Victoria A; Biswas, Sawona; Bernhardt, Barbara A
• Is Part Of: Personalized medicine. Volume 14:Number 5(2017)
• Page Start: 409
• Page End: 422
• Publication Date: 2017-09
• Subjects: genetic counseling -- genetic sequencing -- genetic testing -- pediatric -- provider communication; Pharmacogenomics -- Periodicals; Pharmacogenetics -- Periodicals; 615.19
• DOI: 10.2217/pme-2017-0015
• Languages: English
• ISSNs: 1741-0541

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.