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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

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Publisher copy:
10.1038/ejhg.2017.37

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Publisher:
Springer Nature
Journal:
European Journal of Human Genetics More from this journal
Volume:
25
Issue:
6
Pages:
680–686
Publication date:
2017-03-22
Acceptance date:
2017-02-08
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
Language:
English
Keywords:
Pubs id:
pubs:686851
UUID:
uuid:fd76e5ce-74f1-464a-a70f-e0c9fc2ac0f2
Local pid:
pubs:686851
Deposit date:
2017-04-27

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