Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Genet Med
; 20(12): 1564-1574, 2018 12.
Article
de En
| MEDLINE
| ID: mdl-29595814
ABSTRACT
PURPOSE:
Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional diagnostic pathway.METHODS:
WES was applied to a cohort of 54 patients from 37 families with a variety of Mendelian disorders to identify the genetic etiology. Reanalysis was performed after 12 months with an improved WES diagnostic pipeline. A comparison was made between costs of a modeled WES pathway and a traditional diagnostic pathway in a cohort with intellectual disability (ID).RESULTS:
Reanalysis of WES data at 12 months improved diagnostic success from 30 to 41% due to interim publication of disease genes, expanded phenotype data from referrer, and an improved bioinformatics pipeline. Cost analysis on the ID cohort showed average cost savings of US$586 (AU$782) for each additional diagnosis.CONCLUSION:
Early application of WES in Mendelian disorders is cost-effective and reanalysis of an undiagnosed individual at a 12-month time point increases total diagnoses by 11%.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Dépistage génétique
/
Exome
/
/
Maladies génétiques congénitales
/
Déficience intellectuelle
Type d'étude:
Diagnostic_studies
/
Health_economic_evaluation
/
Prognostic_studies
Limites:
Female
/
Humans
/
Male
Langue:
En
Journal:
Genet Med
Sujet du journal:
GENETICA MEDICA
Année:
2018
Type de document:
Article
Pays d'affiliation:
Australie