Genetics of Disorders of Sex Development: The DSD-TRN Experience.
Endocrinol Metab Clin North Am
; 46(2): 519-537, 2017 06.
Article
en En
| MEDLINE
| ID: mdl-28476235
ABSTRACT
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Network (DSD-TRN) guidelines for standardization of reporting and practice is the current lack of integration of the standardized clinical forms into the various electronic medical records at different sites. Time allocated to research is also limited. In spite of these hurdles, genetic information for half the enrolled patients is already available in the DSD-TRN registry, and early results demonstrate the value of such an infrastructure.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastornos del Desarrollo Sexual
Tipo de estudio:
Guideline
Límite:
Humans
Idioma:
En
Revista:
Endocrinol Metab Clin North Am
Asunto de la revista:
ENDOCRINOLOGIA
/
METABOLISMO
Año:
2017
Tipo del documento:
Article