Evaluating the impact of universal Lynch syndrome screening in a publicly funded healthcare system.
Cancer Med
; 9(18): 6507-6514, 2020 09.
Article
en En
| MEDLINE
| ID: mdl-32700475
ABSTRACT
PURPOSE:
Referrals for Lynch syndrome (LS) assessment have traditionally been based on personal and family medical history. The introduction of universal screening practices has allowed for referrals based on immunohistochemistry tests for mismatch repair (MMR) protein expression. This study aims to characterize the effect of universal screening in a publicly funded healthcare system with comparison to patients referred by traditional criteria, from January 2012 to March 2017.METHODS:
Patient files from the time of initiation of universal screening from 2012 to 2017 were reviewed. Patients were sorted into two groups (a) universally screened and (b) referred by traditional methods. Mutation detection rates, analysis of traditional testing criteria met, and cascade carrier testing were evaluated.RESULTS:
The mutation detection rate of the universal screening group was higher than the traditionally referred group (45/228 (19.7%) vs 50/390 (12.5%), P = .05), though each were able to identify unique patients. An analysis of testing criteria met by each patient showed that half of referred patients from the universal screening group could not meet any traditional testing criteria.CONCLUSION:
The implementation of universal screening in a publicly funded system will increase efficiency in detecting patients with LS. The resources available for genetic testing and counseling may be more limited in public systems, thus inclusion of secondary screening with BRAF and MLH1 promoter hypermethylation testing is key to further optimizing efficiency.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
2_ODS3
Problema de salud:
2_muertes_prematuras_enfermedades_notrasmisibles
Asunto principal:
Análisis Mutacional de ADN
/
Neoplasias Colorrectales Hereditarias sin Poliposis
/
Biomarcadores de Tumor
/
Pruebas Genéticas
/
Enzimas Reparadoras del ADN
/
Reparación de la Incompatibilidad de ADN
/
Detección Precoz del Cáncer
/
Mutación
/
Programas Nacionales de Salud
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Cancer Med
Año:
2020
Tipo del documento:
Article
País de afiliación:
Canadá