Implementation research to help mainstream genomic medicine in Australia

Associate Professor Nicole Rankin from the Melbourne School of Population and Global Health is a co-author in a new study on genomic care for the future.

As genomic medicine advances at pace, experts from Sydney Children’s Hospitals Network (SCHN), The University of Sydney and The University of Melbourne have recommended local, state and federal genomic medicine implementation research to support effective models of genomic care for the future.

In a recently published Perspective in the Medical Journal of Australia, experts said that with the emergence of newly funded genomic diagnostic tests and therapies comes the opportunity for knowledge translation and implementation science, to bridge the gap between research on genomic and precision medicine and its implementation in real-world settings.

“Precision medicine is a tailored approach to health, incorporating an individual’s genetic make-up, environment and lifestyle, and is a new frontier offering much promise for disease prevention and cure,” wrote the authors, led by Dr Rosie O’Shea, Genetic Counsellor, University of Sydney.

As promising clinical benefits have arisen from genomics, Medicare item numbers are now approved for genomic diagnostics in cancer, pre-implantation genetic diagnosis, and certain paediatric, renal and cardiac conditions.

At an exciting time for this field of medicine in Australia, authors emphasised the role that implementation research could play in addressing identified barriers and gaps in precision medicine, including improving evidence, adoption, equity and models of care.

Alan Ma, Staff Specialist in Clinical Genetics at The Children’s Hospital at Westmead and Senior Lecturer, University of Sydney, and co-author of the Perspective said: “At Sydney Children’s Hospitals Network, we’re in a really special position where we are already providing gene therapies to kids, and seeing incredible results, like children with blinding eye disease being able to see stars in the sky.  

“What’s next is to look at a health system’s approach to ensure equity across the system. We have a great opportunity to work out how to get genomic diagnostics and gene therapies into standard practices for children, young people and adults around Australia, and implementation research can help us to answer important questions and address barriers to get there.”

The authors said implementation research would be help address the complex health services issues genomics and precision medicine present that is beyond the scope of traditional clinical effectiveness research.

“An average of 17 years is required to integrate evidence-based practices into routine health care, and genomics has exploded from widespread sequencing availability to TGA-approved therapies requiring a precise genetic diagnosis in less than a decade.”

“To keep pace with the genomic advances, implementation research would allow evidence generation for optimal adoption, knowledge of factors affecting practice, and would inform policy about precision medicine program design,” the authors said.

“Undertaking pre-implementation research, which includes engagement with stakeholders, codesigning strategies, and assessment of readiness for change within organisations and the local context, would allow for health care planning and service delivery approaches that support and sustain equitable genomic testing adoption.”

By adopting these new approaches, authors hope local and disease-specific specialists will have increased and continued capacity to manage genomic care as genomic medicine continues to evolve.

“Taking a learning healthcare systems approach to integrate genomics will ultimately bring the benefits of precision medicine to all Australians”, Dr O’Shea said.