What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
RNA sequencing
genetic testing
insurance coverage
long-read sequencing
whole-exome sequencing
whole-genome sequencing
Journal
Annual review of medicine
ISSN: 1545-326X
Titre abrégé: Annu Rev Med
Pays: United States
ID NLM: 2985151R
Informations de publication
Date de publication:
27 01 2022
27 01 2022
Historique:
entrez:
27
1
2022
pubmed:
28
1
2022
medline:
22
3
2022
Statut:
ppublish
Résumé
Genetic testing has undergone a revolution in the last decade, particularly with the advent of next-generation sequencing and its associated reductions in costs and increases in efficiencies. The Undiagnosed Diseases Network (UDN) has been a leader in the application of such genomic testing for rare disease diagnosis. This review discusses the current state of genomic testing performed within the UDN, with a focus on the strengths and limitations of whole-exome and whole-genome sequencing in clinical diagnostics and the importance of ongoing data reanalysis. The role of emerging technologies such as RNA and long-read sequencing to further improve diagnostic rates in the UDN is also described. This review concludes with a discussion of the challenges faced in insurance coverage of comprehensive genomic testing as well as the opportunities for a larger role of testing in clinical medicine.
Identifiants
pubmed: 35084988
doi: 10.1146/annurev-med-042120-014904
pmc: PMC10874501
mid: NIHMS1966347
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
575-585Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103555
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007709
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD083092
Pays : United States
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