Sarah A Walser1, Allison Werner-Lin2, Rebecca Mueller3, Victoria A Miller4, Sawona Biswas5, Barbara A Bernhardt1. 1. Translational Medicine & Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA. 2. School of Social Policy & Practice, University of Pennsylvania, Philadelphia, PA 19104, USA. 3. Department of History & Sociology of Science, University of Pennsylvania, Philadelphia, PA 19104, USA. 4. Division of Adolescent Medicine, Department of Pediatrics, The Children's Hospital of Philadelphia & Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 9104, USA. 5. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
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.
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.
Entities:
Keywords:
genetic counseling; genetic sequencing; genetic testing; pediatric; provider communication
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