Research

GHQ is involved in variety of national and international research initiatives.

GHQ has a strong track record of Clinicians and Genetic Counsellors contributing to significant national and international research projects. Our clinical staff’s involvement in research has led to 29 publications in 2022 (see listed below). Their involvement extends to presentations at national and international conferences, including participation with other health professional groups such as the Human Genetics Society of Australasia (HGSA). GHQ continues to build and expand the foundation of ongoing research partnerships within RBWH, Metro North, Queensland Health and with an increasing number of external groups such as Australian Genomics.

Our Research Team

Collaborations and Grants

• The TELO-SCOPE study: Attenuating Telomere Attrition with Danazol. Is there Scope to Dramatically Improve Health Outcomes for Adults and Children with Pulmonary Fibrosis – $1,828,446*
• Genomic Health Futures Mission: Achieving Equity in Genomic Health for Indigenous Australians (AEGH) – $499,990*
• Genomic Health Futures Mission: Genomic Autopsy – $3 200 000*
• Genomic Health Futures Mission: The Australian Undiagnosed Diseases Network (UDN-Aus): An internationally networked national approach for transforming diagnosis for individuals living with rare diseases – $3 000 000*
• Australian Genomics – $15,000,000*
• Genomic Health Futures Mission: Mackenzie’s Mission – $20 000 000*
• National rapid genomic diagnosis program for critically ill children – $5,000,000*
• Statewide Renal Clinical Network Genomics Education Project
• KidGen Clinics, Education, Data and Research (KidGen CEDAR): Improving Care and Outcomes of Australians with Genetic Kidney Disease – $693,000*
• A national large-scale automated reanalysis program to increase rare disease diagnosis – $3,000,000*
• The KidGen National Kidney Genomics Program – improving genomic outcomes for Australian families with genetic kidney disease – $3,000,000*
• The Australian Functional Genomics Network – $6,000,000*
• Delivering Value-Based Healthcare Through a Genetic Testing Stewardship Program – $125,000
• Cross-disciplinary genomic training program: Building workforce capability and inter-specialty collaboration – $250,000

*Totals are for all sites, includes GHQ

Current research projects and collaborations

• GHQ led research:
  • Australian Genomics Cardiovascular Genetic Disorders Flagship (co-lead by Prof Julie McGaughran)
  • Whole Genome Sequencing (WGS) Partnership Program (Prof Julie McGaughran & Dr Chirag Patel)
  • Genetics Immersion Program (Dr. Chris Richmond)

• Collaborative research:
  • Australian Genomics (AG)
  • Australian Genomics ICCon Cancer Flagship
  • A national large-scale automated reanalysis program to increase rare disease diagnosis
  • The Australian Functional Genomics Network
  • The KidGen National Kidney Genomics Program – improving genomic outcomes for Australian families with genetic kidney disease
  • The Kathleen Cunningham National Research Consortium For Research on Familial Breast Cancer (kConFab)
  • Identification of the Gene Causing Hereditary Flat Adenoma Syndrome
  • A randomised double-blind dose noninferiority Trial of aspirin in Lynch syndrome (CaPP3)
  • A qualitative study to explore patient attitudes and system enablers to establishing a national genomics registry of inherited cancer predisposition
  • Molecular Mechanisms of Inherited Cardiomyopathies and Arrhythmias (TTNtv Penetrance study)
  • Breast Cancer Refined Analysis of Sequence Tests: Risk and Penetrance (BRASTRAP)
  • State-wide Renal Clinical Network Genomics Education Project
  • CHQ Genomics of Intellectual Disability
  • Genomic Health Futures Mission: McKenzie’s Mission, Functional genomics
  • Australian Undiagnosed Diseases Network (UDN-Aus)
  • Delivering Value-Based Healthcare Through a Genetic Testing Stewardship Program
  • Pancreatic screening trial
  • The PRiMo trial
  • PreGen Antenatal Genomics and Newborn Care Study (PreGen)
  • DNAScreen
  • GHQ genetics immersion program

• Collaborative research with a focus on First Nations people:
  • Genomic Health Futures Mission: Achieving Equity in Genomic Health for Indigenous Australians (AEGH)
  • Genetic Health Referral Pathways

Study links

• Australian Genomics
• UDN-Aus
• Kidgen