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Journal article

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Abstract:

Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those fo...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/ejhg.2017.37

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Department:
Oxford, MSD, RDM, RDM Cardiovascular Medicine
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Department:
Oxford, MSD, RDM
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Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
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Publisher:
Springer Nature Publisher's website
Journal:
European Journal of Human Genetics Journal website
Volume:
25
Issue:
6
Pages:
680–686
Publication date:
2017-03-22
Acceptance date:
2017-02-08
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
Pubs id:
pubs:686851
URN:
uri:fd76e5ce-74f1-464a-a70f-e0c9fc2ac0f2
UUID:
uuid:fd76e5ce-74f1-464a-a70f-e0c9fc2ac0f2
Local pid:
pubs:686851

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