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Journal article

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

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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
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
ORCID:
0000-0002-9116-4064
More from this funder
Grant:
HealthInnovationChallengeFund(R6-388
WT100127
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Funding agency for:
Mackley, M
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Funding agency for:
Watkins, H
Grant:
Senior Investigator Award
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Publisher:
American Heart Association Publisher's website
Journal:
Circulation: Genomic and Precision Medicine Journal website
Volume:
11
Issue:
10
Article number:
e002316
Publication date:
2018-10-15
Acceptance date:
2018-08-13
DOI:
ISSN:
2574-8300
Source identifiers:
928718
Keywords:
Pubs id:
pubs:928718
UUID:
uuid:bb15c37d-a0ce-404e-b415-0bdb6dcd5106
Local pid:
pubs:928718
Deposit date:
2018-10-17

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