Skip to content
  • About
    • What we do
    • Our history
    • Our team
    • Our committees
    • Our partners
    • About genomics
  • Services
    • What we offer
    • Research we’re supporting
  • Tools & resources
    • Search all tools & resources
    • Research ethics & governance
    • Consent & patient support materials
    • Evaluating genomic research & translation
    • Data governance
    • Access our datasets
    • Data capture & standardisation
    • Data analysis & interpretation
    • Workforce education
    • Our publications
    • Our submissions
  • Our project areas
    • Our project areas
    • Genomic implementation projects 2022
    • Genomic information management
    • Clinical genomic practice
    • Genomic literacy, workforce & training
    • Indigenous genomic priorities
    • Genomic diagnostics
    • Evaluating genomic research & translation
    • Australian health system policy & practice
    • Involvement & engagement
  • News & events
    • News
    • Events
    • Personal stories
    • Search news & events
  • Connect with us

Genomic diagnostics

Home Our project areas Genomic diagnostics

Summary

Australian Genomics is supporting the efficiency, quality and consistency of genomic diagnostic practice in Australia.  The ongoing development and expansion of Shariant and PanelApp Australia will continue to drive knowledge sharing between laboratories, to the benefit of the diagnostic services and the patients they serve.  Working with the RCPA QAP (Royal College of Pathologists of Australasia Quality Assurance Programs) Australian Genomics will support the delivery of a quality assurance program around genomic interpretation – promoting quality and consistency in diagnostic variant calling around the nation.  In developing recommendations and guidelines around reanalysis of genomic data, Australian Genomics hopes to ‘solve the unsolved’: achieving genetic diagnoses for undiagnosed patients based on the ever-growing understanding of human genetics.

Current projects

RCPA QAP genomic interpretive module

More genomic tests are expected to be added to Medicare – meaning Medicare will cover...


Shariant

Variants are changes in a patient’s genetic code identified by a genomic test that may...


PanelApp Australia

Finding evidence that a gene is linked to a particular disease is a key component...


Guidelines for the reanalysis of clinical data

When a patient has a genomic test, they are provided with a clinical report that...


Connect with us

(03) 9936 6345
info@australiangenomics.org.au
50 Flemington Road, Parkville
Victoria 3052 Australia

In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

To stay informed about our work, sign up to our newsletter

Subscribe

Quicklinks

  • Home
  • What we do
  • What we offer
  • Tools & resources
  • Our publications
  • Our project areas
  • Research we’re supporting
  • Our team

Privacy

  • We follow the Australian Privacy Principles
  • General privacy policy
  • Website privacy policies
  • Terms & conditions

Website by Blueboat.