Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.
Journal
Journal of clinical and translational science
ISSN: 2059-8661
Titre abrégé: J Clin Transl Sci
Pays: England
ID NLM: 101689953
Informations de publication
Date de publication:
2021
2021
Historique:
received:
18
02
2021
revised:
28
06
2021
accepted:
02
08
2021
entrez:
1
12
2021
pubmed:
2
12
2021
medline:
2
12
2021
Statut:
epublish
Résumé
Rapid whole genome sequencing (rapid WGS) is a powerful diagnostic tool that is becoming increasingly practical for widespread clinical use. However, protocols for its use are challenging to implement. A significant obstacle to clinical adoption is that laboratory certification requires an initial research development phase, which is constrained by regulations from returning results. Regulations preventing return of results have ethical implications in cases which might impact patient outcomes. Here, we describe our experience with the development of a rapid WGS research protocol, that balanced the requirements for laboratory-validated test development with the ethical needs of clinically relevant return of results.
Identifiants
pubmed: 34849253
doi: 10.1017/cts.2021.833
pii: S2059866121008335
pmc: PMC8596074
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e177Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR002538
Pays : United States
Informations de copyright
© The Association for Clinical and Translational Science 2021.
Déclaration de conflit d'intérêts
MY is a co-founder, scientific advisory board member, and consultant for Fabric Genomics Inc. JRB is a consultant to Sanofi Pharmaceuticals. DD reports previous consulting fees from Audentes, Biomarin, Ichorion, and Complete Genomics. He serves on a scientific advisory board for Taysha Gene Therapies. DD is an inventor on US patent 8718950B2 assigned to The HudsonAlpha Institute for Biotechnology. JLB has served as a consultant to Bluebird Bio, Inc; to Calico, Inc; to Denali; to Neurogene, Inc.; to Enzyvant, Inc.; to Passage Bio; and owns stock in Orchard Therapeutics. The remaining authors have no conflicts of interest to declare.
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