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A review of health economic studies comparing traditional and massively parallel sequencing diagnostic pathways for suspected genetic disorders

Abstract:

Genetic disorders are clinically diverse and genetically heterogeneous, and are traditionally diagnosed based on an iterative phenotype-guided genetic assessment. However, such diagnostic approaches are long (diagnostic odysseys are common), misdiagnoses occur frequently, and diagnostic rates are low. Massively parallel sequencing (MPS) technologies may improve diagnostic rates and reduce the time-to-diagnosis for patients with suspected genetic disorders. However, MPS technologies are expens...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1007/s40273-019-00856-8

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Nuffield Department of Population Health
Sub department:
Population Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Nuffield Department of Population Health
Sub department:
Population Health
Role:
Author
ORCID:
0000-0003-2528-0638
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Nuffield Department of Population Health
Role:
Author
Publisher:
Springer Verlag
Journal:
PharmacoEconomics More from this journal
Volume:
38
Issue:
2020
Pages:
143-158
Publication date:
2019-11-19
Acceptance date:
2019-10-29
DOI:
EISSN:
1179-2027
ISSN:
1170-7690
Language:
English
Keywords:
Pubs id:
pubs:1071510
UUID:
uuid:62fe85c7-517e-452f-a061-a12052853617
Local pid:
pubs:1071510
Source identifiers:
1071510
Deposit date:
2019-11-13

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