Determining accurate costs for genomic sequencing technologies-a necessary prerequisite

J Community Genet. 2020 Apr;11(2):235-238. doi: 10.1007/s12687-019-00442-7. Epub 2019 Nov 15.

Abstract

Genome sequencing (GS) is increasingly being translated into clinical practice and is a technology characterized by a complex multi-step workflow. Funding decisions for GS would be aided by formal economic evaluation of GS platforms, but these analyses require detailed costing. This article addresses the importance of and challenges associated with costing GS using a GS microcosting project in autism spectrum disorder as an illustrative example.

Keywords: Autism spectrum disorder; Chromosomal microarray; Economic evaluation; Genome sequencing; Health technology assessment; Microcosting.