New genomic test funding
Fast track for families
12 May 2020
Families will now be able to access genomic testing without being referred to a genetic service thanks to a new Medicare funding model.
The new Medicare funding model will allow paediatricians to order genomic (exome) testing for children with moderate to severe intellectual disability.
Research by the Australian Institute of Health Innovation (AIHI) at Macquarie University estimates that waiting periods for access to this type of testing via a genetics service has been on average 1 year in NSW metropolitan areas and 2 years for NSW regional areas.
This new funding model is expected to speed up the process for families with children with undiagnosed intellectual disability.
The genomic test known as WES (whole exome sequencing) results in a molecular diagnosis for approximately 40% of children with a moderate to severe intellectual disability.
A genetic diagnosis is valuable in helping families avoid further unnecessary investigations, accessing support groups and services and providing information for future family planning.
To support implementation of this new model, a working group has been formed by the NSW Agency for Clinical Innovation’s Clinical Genetics Network and AIHI’s Implementation Science specialists including AIHI PhD candidate Hossai Gul who is embedded in the NSW clinical team.
Figure 1: Percentage of children with moderate to severe intellectual disability who are diagnosed using available clinical tests. Approximately 42% of children with intellectual disability have an unknown aetiology.
Support for paediatricians
LEARN: Paediatricians can learn how to order genomic testing for childhood syndromes and intellectual disability via the newly developed educational short videos on the NSW Centre for Genetics Education website.
FEEDBACK: NSW paediatricians can complete this survey to provide feedback on what support is needed to carry out whole exome testing. The survey will take less than 10 minutes via this link.
DISCUSS: If you are a paediatrician in NSW, and would like to be interviewed to provide further insight, please email Hossai Gul.
CENTRES RELATED TO THIS NEWS
Centre for Healthcare Resilience and Implementation Science
MEDIA ENQUIRIES, PLEASE CONTACT
Chrissy Clay, Research Outreach Coordinator on chrissy.clay@mq.edu.au
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