Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia

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 ].