Applications

1476 – Genetic testing for childhood syndromes

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Complete
  • Type New application
  • Pre-PASC consultation -
  • Pre-MSAC consultation -
  • Outcome Supported

Application details

Reason for application

New MBS item.

Service or technology in this application

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.

Type: Investigative medical service

Medical condition this application addresses

Children (<18 years) with the onset of clinical features/symptoms indicating a syndromic disorder in the first year of life, including a minimum of 2 of the 3 following indications: multiple congenital anomalies and/or dysmorphic facial features and/or moderate to profound cognitive impairment.

Application documents

Application form

PICO confirmation

Public summary document

Final stakeholder meeting minutes

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Meetings to consider this application

  • PASC meeting: 12 April 2017
  • ESC meeting: 8 June 2018
  • MSAC meeting: 
    • 26-27 July 2018
    • 22 - 23 November 2018
    • 1 - 2 August 2019

Stakeholder meeting

Friday 19 October 2018, members of MSAC, clinical geneticists, genetic counsellors, clinicians with experience in managing children with congenital conditions, pathology providers, representatives of relevant consumer organisations, representatives from the Murdoch Children’s Research Institute, and the Department of Health met to discuss Genetic Testing for Childhood Syndromes. This was not an MSAC decision forum, but a meeting that would inform the issues considered by MSAC, following its July 2018 consideration of application 1476. The final minutes of this meeting are above.