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. 2023 Sep;31(9):977-979.
doi: 10.1038/s41431-023-01417-6. Epub 2023 Jul 3.

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

Dylan A Mordaunt  1   2   3 , Kim Dalziel  4   5 , Ilias Goranitis  4   5 , Zornitza Stark  5   6   7
Affiliations

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

Dylan A Mordaunt et al. Eur J Hum Genet. 2023 Sep.
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors have no direct pecuniary interests in the outputs of the study. ZS is employed by a genomics laboratory. The study is not supported by dedicated funding. The primary author is supported in his research activities by ongoing employment with the state government.

Figures

Fig. 1
Fig. 1. Actual vs predicted services and reimbursement cost for childhood syndrome initial testing.
This shows a significant difference between actual and predicted utilisation.
See this image and copyright information in PMC

References

    1. Stark Z, Dolman L, Manolio TA, Ozenberger B, Hill SL, Caulfied MJ, et al. Integrating Genomics into Healthcare: A Global Responsibility. Am J Hum Genet. 2019;104:13–20. doi: 10.1016/j.ajhg.2018.11.014. - DOI - PMC - PubMed
    1. Phillips KA, Douglas MP, Wordsworth S, Buchanan J, Marshall DA. Availability and funding of clinical genomic sequencing globally. BMJ Glob Health. 2021;6:1–8. - PMC - PubMed
    1. Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, et al. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. Am J Hum Genet. 2023;110:419–26. doi: 10.1016/j.ajhg.2023.01.018. - DOI - PMC - PubMed
    1. Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med. 2017;19:867–74. doi: 10.1038/gim.2016.221. - DOI - PubMed
    1. Schofield D, Rynehart L, Shresthra R, White SM, Stark Z. Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes. Genet Med. 2019;21:2586–93. doi: 10.1038/s41436-019-0534-x. - DOI - PubMed