Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.

ABSTRACT:

Importance

The diagnosis of rare diseases and other genetic conditions can be daunting due to vague or poorly defined clinical features that are not recognized even by experienced clinicians. Next-generation sequencing technologies, such as whole-genome sequencing (WGS) and whole-exome sequencing (WES), have greatly enhanced the diagnosis of genetic diseases by expanding the ability to sequence a large part of the genome, rendering a cost-effectiveness comparison between them necessary.

Objective

To assess the cost-effectiveness of WGS compared with WES and conventional testing in children with suspected genetic disorders.

Design, setting, and participants

In this economic evaluation, a bayesian Markov model was implemented from January 1 to June 30, 2023. The model w

SUBMITTER: Nurchis MC 

PROVIDER: S-EPMC10818217 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature