Next step to mainstream gene therapies

Next step to mainstream gene therapies

Photo of child holding an LED star

Gene therapies have helped patients at Sydney Children's Hospitals Network (SCHN) see stars in the sky for the first time. Now, experts are calling for research to look at how gene therapies can be adapted and scaled to become standard practices for people right around Australia.

In a new paper published by the Medical Journal of Australia, experts from our Network, the University of Sydney and the University of Melbourne have provided recommendations on local, state and federal genomic medicine implementation research to support effective models of genomic care for the future.

Dr Alan Ma, Staff Specialist in Clinical Genetics at The Children’s Hospital at Westmead, Senior Lecturer, University of Sydney, and co-author of the Perspective, said specialists in genetics and ophthalmology have already started seeing the success of gene therapy, and how quickly it is being introduced as an approved form of treatment. He says the next step is working out how to do this at scale.

“At SCHN, 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,” Dr Ma said.

“This new model of precision medicine is also being used in other areas at our Network, including neurology and oncology, with testing and treatments delivering real-world results to young patients."

“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 advancements in genomic treatments in recent years has seen Medicare item numbers approved for genomic diagnostics in cancer, pre-implantation genetic diagnosis, and certain paediatric, renal and cardiac conditions.

Due to the rapid advancement of genomics though, implementation of new therapeutic interventions has presented some challenges, including the need to improve education and capability for local and disease-specific specialists to manage genomic care with increased capacity.

Dr Ma and co-authors suggest implementation research will help address these challenges in the adoption of precision medicine around the country, while improving evidence, equity and models of care.

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

“Undertaking pre-implementation research would allow for health care planning and service delivery approaches that support and sustain equitable genomic testing adoption.”

At an exciting, and ever emerging, time in the field, the authors hope their recommendations will help pave the next steps to manage genomic care as genomic medicine as it 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.