Implementation of genomic medicine into clinical practice

Implementation of genomic medicine into clinical practice

Ensuring research is implemented into cost-effective evidence based practice.

Genomic medicine

Project members - Macquarie University

Dr Stephanie Best - Senior Research Fellow

Janet Long - Senior Research Fellow

Professor Jeffrey Braithwaite - Professor and Director

Project members - external

Dr Natalie Taylor Honorary Senior Research Fellow

Project main description

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. This program of work for the Australian Genomics Health Alliance (AGHA) aims to use implementation science methods to promote the uptake of genomic testing into routine healthcare in clinical, organisational and policy contexts.


Genomic medicine is an exciting new field leading to new diagnostic and prognostic capabilities. Distinct from genetic medicine which focusses on individual genes of patients, genomic medicine considers a patient’s entire set of genes. This is considered disruptive innovation as it requires new infrastructure, new behaviours around consenting patients and delivering results, issues around storage and confidentiality of the terabytes of data that each test generates, and new multidisciplinary arrangements to interpret the findings.

Melbourne Genomics Health Alliance and the AGHA, through their Disease Flagship Program (using genomic testing for a range of rare diseases and cancers), have placed emphasis on understanding, from a service level and clinical practice perspective, how genomic testing could be widely implemented. The Flagship Program has been funded for specific genomic testing and will be assessed to understand the effectiveness of genomic sequencing across the different conditions. From this, knowledge will also be gained around service delivery and implementation that can be applied ‘in the real world’.

To ensure that genomic testing, where found to be clinically effective, is sustained beyond the life of this programmatic funding, an understanding of service provision pathways and clinical processes for genomic testing that currently exist, or are planned for the future is crucial. By studying flagship cohorts using implementation science methods, a suite of appropriate interventions to facilitate the implementation of genomic testing into clinical practice can be designed, tested, and generalised for future flagships and across organisations outside this program. Furthermore, a service provision pathway can be designed to optimise the likelihood of sustainability of genomic testing for flagships once program participation is complete, and for new organisations aiming to provide genomic testing.

The key objectives for the five-year implementation plan are to:

  • Determine cost-effective post-flagship pathways to service provision
  • Identify efficient and effective clinical processes for the use of genomic sequencing
  • Inform and support the development of a suite of interventions to facilitate the implementation of cost-effective genomic sequencing into clinical practice


Whilst barriers to mainstreaming of genomic testing have been previously investigated, this has not been undertaken with the use of a theoretical framework.  This study which utilises implementation science methodology, promotes elicitation of psychosocial barriers often more difficult to identify (e.g., emotion, social influences, cognitions) using standard questioning about perceived barriers.

Furthermore, aligning barriers with a) specific target behaviours for change based on practice data, and b) with appropriate behaviour change techniques, allows for greater specificity of change within individual contexts, and tailoring of interventions using evidence based methods. Therefore, the overall output of this work will be a generalisable framework for implementation and a suite of interventions to address common barriers within different contexts, with the capability to adapt and evolve across healthcare settings aiming to incorporate new genetic testing evidence into practice. This work will also provide the foundation to test the effectiveness of these interventions with future flagships.

Project contacts

Janet Long


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Project sponsors

Australian Genomics Health Alliance

Melbourne Genomics Health Alliance


Dr Jean Paul, Murdoch Children's Research Insitute

Dr Melissa Martyn, Melbourne Genomics Health Alliance

A/Prof Clara Gaff, University of Melbourne

Related projects

Towards understanding complexity in genomics translational activities across Australia

Related stream of research

Complex Systems Research Stream

Project status


Centres related to this project

Centre for Healthcare Resilience and Implementation Science

Content owner: Australian Institute of Health Innovation Last updated: 21 Nov 2019 5:07pm

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