Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

ABSTRACT:

Background

With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French policy makers determine an adequate tariff for ES, we aimed to assess the unit cost per ES diagnostic test for ID from the preparation of the pre-analytical step until the report writing step and to identify its main cost drivers.

Methods

A micro-costing bottom-up approach was conducted for the year 2018 in a French setting as part of the DISSEQ study, a cost-effectiveness study funded by the Ministry of Health and performed in collaboration with the GAD (Génétique des Anomalies du Développement), a genetic team from the Dijon Univ

SUBMITTER: Soilly AL 

PROVIDER: S-EPMC10120135 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature