Elsevier

Genetics in Medicine

Volume 18, Issue 9, September 2016, Pages 949-956
Genetics in Medicine

Original Research Article
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

https://doi.org/10.1038/gim.2015.200Get rights and content
Under an Elsevier user license
open archive

Abstract

Purpose

This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center and calculated the total costs of these patients’ diagnostic trajectory in order to evaluate early WES implementation.

Methods

We compared 17 patients’ trio-WES yield with the retrospective costs of diagnostic procedures by comprehensively examining patient records and collecting resource use information for each patient, beginning with patient admittance and concluding with WES initiation. We calculated cost savings using scenario analyses to evaluate the costs replaced by WES when used as a first diagnostic tool.

Results

WES resulted in diagnostically useful outcomes in 29.4% of patients. The entire traditional diagnostic trajectory average cost was $16,409 per patient, substantially higher than the $3,972 trio-WES cost. WES resulted in average cost savings of $3,547 for genetic and metabolic investigations in diagnosed patients and $1,727 for genetic investigations in undiagnosed patients.

Conclusion

The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and cost-efficient option in patient diagnostics. This information is crucial for centers considering implementation of WES and serves as input for future value-based research into diagnostics.

Genet Med 18 9, 949–956.

Keywords

clinical management
cost analysis
intellectual disability
whole-exome sequencing

Cited by (0)