How do providers discuss the results of pediatric exome sequencing with families?

Autor:	Walser SA; Translational Medicine & Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Werner-Lin A; School of Social Policy & Practice, University of Pennsylvania, Philadelphia, PA 19104, USA., Mueller R; Department of History & Sociology of Science, University of Pennsylvania, Philadelphia, PA 19104, USA., Miller VA; 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., Biswas S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bernhardt BA; Translational Medicine & Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Jazyk:	angličtina
Zdroj:	Personalized medicine [Per Med] 2017 Sep; Vol. 14 (5), pp. 409-422. Date of Electronic Publication: 2017 Sep 04.
DOI:	10.2217/pme-2017-0015
Abstrakt:	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. Competing Interests: Competing interests disclosure The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
Databáze:	MEDLINE
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