Implementation Science Research Needed to Mainstream Genomic Care & Precision Medicine

In an article in the December 2022 issue of the Medical Journal of Australia, members of SHP’s, Genomic Medicine and Precision Partnerships Clinical Academic Group (CAG) said that while the recent addition to Medicare of funding for new genomic diagnostic tests and therapies is welcome, there is a need to bridge the gap between what we know to be effective from research on precision medicine and its implementation in real-world settings.

Precision medicine is a tailored approach to health care and advice, incorporating an individual’s genetic makeup, environment and lifestyle. Health systems are notoriously slow to adopt innovations like precision medicine. In recent years a great deal has been learned, through implementation science, about how to speed up the adoption of innovations. The authors called for implementation science to be applied to ensure precision medicine is available to the right patient at the right time in an equitable way across Australia’s health system.

Co-author of the article, Dr Alan Ma, is a Clinical Geneticist with the Sydney Children’s Hospitals Network at Westmead and in 2021 was awarded one of five inaugural Sydney Health Partners Research Translation Fellowships. He says that while precision medicine based on genomic testing is already being used to successfully treat some patients at the Children's Hospital, it should be more widely adopted. “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,” said Dr Ma. “But more implementation science-based research on these models of care is required to work out if they can be scaled and adapted to the healthcare system as a whole.”
“What’s next is to look at a health systems 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.”

Lead author and Genetic Counsellor at the University of Sydney, Dr Rosie O’Shea, said that by adopting these new approaches, the authors hope local and disease-specific specialists will have increased and continued capacity to manage genomic medicine as it continues to evolve.
“Undertaking pre-implementation research, which includes engagement with stakeholders, co-designing 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,” she said.

The authors include University of Melbourne Associate Professor and former Director of Implementation Science at Sydney Health Partners, Nicole Rankin, and the CAG’s co-chair and Head of the Specialty of Genomic Medicine at the University of Sydney, Professor Robyn Jamieson.

They wrote that implementation research would help address the complex health services issues which are beyond the scope of traditional clinical effectiveness research.
“We know that an average of 17 years is required to integrate evidence-based practices into routine health care, but in less than a decade genomics has exploded from widespread sequencing availability to TGA-approved therapies,” they wrote. “Implementation science-based research would allow evidence generation for optimal adoption, knowledge of factors affecting practice, and would inform policy about precision medicine program design.”