Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases.
Genet Med
; 24(1): 109-118, 2022 01.
Article
in En
| MEDLINE
| ID: mdl-34906478
ABSTRACT
PURPOSE:
To estimate the cost-effectiveness of genome sequencing (GS) for diagnosing critically ill infants and noncritically ill pediatric patients (children) with suspected rare genetic diseases from a United States health sector perspective.METHODS:
A decision-analytic model was developed to simulate the diagnostic trajectory of patients. Parameter estimates were derived from a targeted literature review and meta-analysis. The model simulated clinical and economic outcomes associated with 3 diagnostic pathways (1) standard diagnostic care, (2) GS, and (3) standard diagnostic care followed by GS.RESULTS:
For children, costs of GS ($7284) were similar to that of standard care ($7355) and lower than that of standard care followed by GS pathways ($12,030). In critically ill infants, when cost estimates were based on the length of stay in the neonatal intensive care unit, the lowest cost pathway was GS ($209,472). When only diagnostic test costs were included, the cost per diagnosis was $17,940 for standard, $17,019 for GS, and $20,255 for standard care followed by GS.CONCLUSION:
The results of this economic model suggest that GS may be cost neutral or possibly cost saving as a first line diagnostic tool for children and critically ill infants.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rare Diseases
/
Undiagnosed Diseases
Type of study:
Diagnostic_studies
/
Health_economic_evaluation
/
Prognostic_studies
/
Systematic_reviews
Limits:
Child
/
Humans
/
Infant
/
Newborn
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2022
Type:
Article
Affiliation country:
Canada