Towards precision nephrology: the opportunities and challenges of genomic medicine.
J Nephrol
; 31(1): 47-60, 2018 02.
Article
en En
| MEDLINE
| ID: mdl-29043570
The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Genómica
/
Medicina de Precisión
/
Enfermedades Renales
/
Nefrología
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Sysrev_observational_studies
Límite:
Humans
Idioma:
En
Revista:
J Nephrol
Asunto de la revista:
NEFROLOGIA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos