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A qualitative study of patients' perceptions of the value of molecular diagnosis for Familial Hypercholesterolemia (FH)

Abstract:

For many years Familial Hypercholesterolemia (FH), an inherited disorder, has been diagnosed using phenotypic features plus family history of early onset cardiovascular disease (CVD), and has been successfully treated using statin therapy. DNA testing is now available and this has been incorporated into familial cascade screening programmes in many parts of Europe. Little is known about patients’ perceptions of the value of undergoing molecular diagnosis for FH. In-depth interviews were carri...

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

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Publisher copy:
10.1007/s12687-016-0286-0

Authors


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Department:
Oxford, MSD, Nuffield Department of Population Health
Jenkins, N More by this author
Douglas, M More by this author
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Chief Scientists Office More from this funder
Publisher:
Springer Berlin Heidelberg Publisher's website
Journal:
Journal of Community Genomics Journal website
Volume:
8
Issue:
1
Pages:
45–52
Publication date:
2016-11-19
Acceptance date:
2016-11-01
DOI:
EISSN:
1868-6001
ISSN:
1868-310X
Pubs id:
pubs:656554
URN:
uri:b9b2ed60-bcd0-46f7-aa2e-939bbc78dcce
UUID:
uuid:b9b2ed60-bcd0-46f7-aa2e-939bbc78dcce
Local pid:
pubs:656554

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