Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases.

ABSTRACT:

Background

Despite the emergence of diagnostic and clinical utility evidence in nephrology, publicly funded access to genomic testing is restricted in most health care systems. To establish genomic sequencing as a clinical test, an evaluation of cost-effectiveness is urgently required.

Methods

An economic evaluation, informed by a primary clinical study and available clinical evidence and guidelines in nephrology, was performed to evaluate the cost-effectiveness and optimal timing of exome sequencing (ES) in adults and children with suspected monogenic glomerular diseases compared with nongenomic investigations (NGIs). Six diagnostic strategies reflecting current practice and recommended models of care in Australia were modeled: (i) NGIs, (ii) late gene panel followed by ES,

SUBMITTER: Jayasinghe K 

PROVIDER: S-EPMC8589690 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature