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From genotype to phenotype: Clinical assessment and participant perspective of a secondary genomic finding associated with long QT syndrome

Abstract:

Genomic variants associated with inherited cardiac conditions (ICC) yet detected incidentally (secondary findings [SF]) are likely to arise with increasing frequency as genome sequencing (GS) transitions into clinical practice. Because genotyping has until recently been directed by clinical diagnosis, assessment and management of individuals found to harbor such a variant as a SF are unclear. Here, we illustrate some diagnostic and psychosocial complexities of ICC SF, exemplified by disclosur...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1161/CIRCGEN.118.002316

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
McGuire, K More by this author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Subgroup:
Human Genetics Wt Centre
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Subgroup:
RDM Cardiovascular Medicine
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Subgroup:
RDM Cardiovascular Medicine
ORCID:
0000-0002-9116-4064
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Grant:
Health Innovation Challenge Fund (R6-388 and WT 100127)
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Funding agency for:
Mackley, M
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Publisher:
American Heart Association Publisher's website
Journal:
Circulation: Genomic and Precision Medicine Journal website
Volume:
11
Issue:
10
Pages:
Article: e002316
Publication date:
2018-10-15
Acceptance date:
2018-08-13
DOI:
ISSN:
2574-8300
Pubs id:
pubs:928718
URN:
uri:bb15c37d-a0ce-404e-b415-0bdb6dcd5106
UUID:
uuid:bb15c37d-a0ce-404e-b415-0bdb6dcd5106
Local pid:
pubs:928718

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