Implementing genomic medicine into clinical practice

  1. Macquarie University
  2. Faculty of Medicine, Health and Human Sciences
  3. Departments and schools
  4. Australian Institute of Health Innovation
  5. Our research centres
  6. Healthcare Resilience and Implementation Science
  7. Our research
  8. Implementing genomic medicine into clinical practice

Fostering cost-effective, evidence based practice

Genomic medicine holds immense potential, but psychosocial, logistical, and systemic barriers hinder adoption. This study uses implementation science to uncover challenges, ensuring genomic medicine's integration into practice.

Full project name: Implementation of genomic medicine into clinical practice

Project sponsors: Australian Genomics Health Alliance and Melbourne Genomics Health Alliance

A child blowing bubbles at the camera.

About the project

Genomic medicine is revolutionising healthcare, offering advanced diagnostic and prognostic capabilities by analysing a patient’s entire genetic profile. It is considered a disruptive innovation as it requires new infrastructure, patient consent processes, data security protocols, and multidisciplinary collaboration.

This program of work for the Australian Genomics Health Alliance (AGHA) from 2016 to 2020 applied implementation science methods to promote the uptake of genomic testing into routine healthcare in clinical, organisational and policy contexts. Implementation science explores and overcomes the challenges faced when applying and generalising research findings 'in the real world' to foster cost-effective, evidence based practice.

The Melbourne Genomics Health Alliance and the AGHA led the Disease Flagship Program to explore how genomic testing could be effectively integrated into clinical practice. This initiative assessed genomic sequencing for rare diseases and cancers, identifying cost-effective service pathways and efficient clinical processes. Using implementation science methods, researchers then developed tailored interventions to streamline genomic testing adoption in real-world healthcare settings.

By building sustainable service models, this program has laid the foundation for mainstreaming genomic medicine, ensuring its long-term viability beyond programmatic funding. These insights will guide future implementation efforts, shaping the future of precision medicine in Australia and beyond.

Project lead: Professor Jeffrey Braithwaite

Other members and collaborators
  • Associate Professor Clara Gaff, University of Melbourne
  • Dr Melissa Martyn, Melbourne Genomics Health Alliance
  • Dr Jean Paul, Murdoch Children's Research Insitute
  • Dr Natalie Taylor, Honorary Senior Research Fellow, Macquarie University