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Home » News and Research » 2017 » Nov » Public consultation on genetic testing for childhood syndromes

Public consultation on genetic testing for childhood syndromes


The Medical Services Advisory Committee (MSAC) public consultation survey is now open on public funding for genetic testing for childhood syndromes.


Description of Medical Service

Next generation sequencing of coding regions in clinically affected individuals. While next generation sequencing has the ability to investigate all genes in the one test, only genes known to cause these syndromes will be analysed. A phenotype-driven list of candidate genes should be prioritised for analysis, followed by a broader scan of all other known genes with clinical evidence indicating possible involvement in the affected individual's condition.


The Department of Health welcomes your feedback. The data collected will be used to inform the MSAC process to ensure that when proposed healthcare interventions are assessed for public funding in Australia, they are patient focused and seek to achieve best value

Find out more here.

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