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

Dylan A. Mordaunt; Kim Dalziel; Ilias Goranitis; Zornitza Stark

doi:10.1038/s41431-023-01417-6

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

Dylan A. Mordaunt, Kim Dalziel, Ilias Goranitis, Zornitza Stark

Research output: Contribution to journal › Comment/debate

11 Citations (Scopus)

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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].

Original language	English
Pages (from-to)	977-979
Number of pages	3
Journal	European Journal of Human Genetics
Volume	31
Issue number	9
Early online date	3 Jul 2023
DOIs	https://doi.org/10.1038/s41431-023-01417-6
Publication status	Published - Sept 2023
Externally published	Yes

Keywords

economics
health care
health care economics
health policy

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/s41431-023-01417-6Licence: CC BY

Final published versionFinal published version, 497 KBLicence: CC BY

Cite this

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AU - Stark, Zornitza

PY - 2023/9

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AB - 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].

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KW - health care

KW - health care economics

KW - health policy

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M3 - Comment/debate

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

Abstract

Keywords

UN SDGs

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