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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Patient Education an...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Patient Education and Counseling
Article . 2018 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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The social utility of clinical exome sequencing

Authors: Stefan, Timmermans; Tanya, Stivers;

The social utility of clinical exome sequencing

Abstract

Examine the presentation of clinical and social implications of exome sequencing findings during patient-geneticist interactions.Video-recordings of 34 returns of exome sequencing results with findings in an academic genetics clinic were examined using an inductive thematic analysis to distinguish categories of consequences. We then operationalized these categories for structured observation coding of parent or geneticist/genetic counselor-initiated mention of consequences, complemented with semi-structured interviews with 16 families. This allowed us to provide basic descriptive statistics including frequencies and bivariate analyses. Because variables were generally dichotomous, we used chi-square tests of independence.A total of 568 consequences of exome sequencing were discussed during the consultations, which can be grouped in two broad categories: clinical and social consequences. Clinical consequences related to the diagnosis, prognosis or treatment regimen of the test. Social consequences affect the family as a social unit and were not the reason for testing.Besides clinical consequences, patients and clinicians distinguish distinct and highly salient social consequences of exome findings during return of results consultations.Clinical geneticists have an opportunity to address the social utility of exome findings.

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Keywords

Parents, Office Visits, Video Recording, Social Support, Genetic Counseling, Genomics, Cross-Sectional Studies, Humans, Exome, Genetic Testing, Child

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Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
4
Top 10%
Average
Average
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