Journal article
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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Authors
Bibliographic Details
- Publisher:
- Springer Verlag Publisher's website
- Journal:
- PharmacoEconomics Journal website
- Volume:
- 38
- Issue:
- 2020
- Pages:
- 143-158
- Publication date:
- 2019-11-19
- Acceptance date:
- 2019-10-29
- DOI:
- EISSN:
-
1179-2027
- ISSN:
-
1170-7690
Item Description
- 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
Terms of use
- Copyright holder:
- Springer Nature
- Copyright date:
- 2019
- Rights statement:
- © Springer Nature Switzerland AG 2019
- Notes:
- This is the accepted manuscript version of the article. The final version is available from Springer Verlag at: https://doi.org/10.1007/s40273-019-00856-8
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