Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection.
Genet Med
; 23(9): 1783-1788, 2021 09.
Article
en En
| MEDLINE
| ID: mdl-33972721
ABSTRACT
PURPOSE:
The PhenX Toolkit ( www.phenxtoolkit.org ), an online catalog of recommended measurement protocols, facilitates cross-study analyses for research with human participants. The PhenX Steering Committee recommended genomic medicine implementation as a new research domain, with the following scope genomic knowledge and education (both patients and providers); implementation science; changes in management and treatment; return of results; patient outcomes; and ethical, legal, and social issues (ELSI) associated with genomic research.METHODS:
A seven-member expert Working Group convened in October 2019 to identify well-established measurement protocols for a new genomic medicine implementation domain and used the established PhenX consensus process to select measurement protocols for inclusion in the PhenX Toolkit.RESULTS:
The Working Group recommended 15 measurement protocols for inclusion in the PhenX Toolkit, with priority given to those with empirical evidence supporting validity. Consortia funded by the National Institutes of Health, and particularly the National Human Genome Research Institute, proved critical in identifying protocols with established utility in this research domain, and identified protocols that were developed through a rigorous process for scope elements that lacked formally validated protocols.CONCLUSION:
Use of these protocols, which were released in September 2020, can facilitate standard data collection for genomic medicine implementation research.
Texto completo:
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Bases de datos:
MEDLINE
Asunto principal:
Genómica
Tipo de estudio:
Guideline
Límite:
Humans
Idioma:
En
Revista:
Genet Med
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos