Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia
Dylan Mordaunt, Kim Dalziel, Ilias Goranitis, Zornitza Stark
Abstract
Lack of reimbursement for genomic testing in rare diseases is recognized as one of the principal barriers to wider implementation within healthcare systems [ 1 ]. Multiple studies have provided evidence for diagnostic and clinical utility and for the cost-effectiveness of genomic testing in rare diseases, leading to testing being funded across a range of public and private healthcare systems worldwide [ 2 ].
Topics & Concepts
Intellectual disabilityGeneticsMedicineBiologyGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities