NHS Genomics Chief brings delivery lessons to Australia

Australia’s transition from setting a national genomics agenda to translating it into routine practice will come under international scrutiny in October, when Professor Dame Sue Hill DBE visits at the invitation of InGeNA (Industry Genomics Network Alliance).

Professor Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS, has been at the centre of England’s genomics transformation since the beginning of the Genomic Medicine Service. Her leadership builds on her work overseeing the NHS contribution to the 100,000 Genomes Project and now extends across seven Genomic Laboratory Hubs and a National Genomic Test Directory.

The scale of that infrastructure places England among the world’s most advanced national genomics systems and gives Australia an opportunity to examine, at close range, what is required to move from genomic ambition to a functioning, integrated health service.

The implementation complexities was an important theme in Professor Hill’s recent evidence to the inquiry into Innovation in the NHS: Personalised Medicine and AI. The inquiry examined why the NHS has often struggled to translate the UK’s leading life sciences innovations into widespread adoption, and what needs to change.

“What the 100,000 Genomes project taught us was the level of transformation that needed to happen in the National Health Service (NHS) in terms of clinical leadership, infrastructure and the data and digital arrangements to support whole genome sequencing,” she explained.

Her assessment extends beyond genomics itself, pointing to the need for health systems to consider how emerging technologies interact with existing diagnostics, treatment pathways and the collection of patient outcomes.

“We should continue to adopt cutting-edge technologies, not just in genomics but across diagnostics, and to look at the potential for some of these technologies to remove some of the other testing that we do in the NHS…” she added. “Part of the challenge with personalised medicine is ensuring that the data sources can join up. For AI, we must have data that is collected to the right standards, which is no longer siloed and which we can join up, along the patient pathway, in order to link the diagnostic with the personalised treatment and intervention so that we can collect the outcome. Other countries focus on the front end, the diagnostic, but not on how it links to either the treatment interventions or the outcomes, what it means, and the outcomes for people and their family members.”

The timing of the visit is significant for Australia. The recent release of the National Health Genomics Policy Framework and Implementation Plan 2026–2030 has established a new national platform for genomics, shifting attention towards the practical question of how that policy will be delivered across Australia’s complex, federated health system.

“Australia now has stronger national direction for genomics,” said Dr Erin Evans CEO of InGeNA. “The real test is whether it changes what happens for patients: whether people can access the right genomic test at the right time, wherever they live, and have the result guide their care.”

The next stage, she argues, will require the mechanisms needed to turn policy commitments into routine clinical practice.

“That will require funded implementation, clear accountability, fit-for-purpose assessment and commissioning pathways, and genuine partnership with industry. Professor Hill’s visit could not come at a more relevant time as England’s experience of turning genomics policy into funded, operational infrastructure offers exactly the practical lessons Australia now needs as it moves from framework to delivery,” she added.

The exchange will not, however, be one-way. While Australia can draw on England’s experience, Professor Hill also sees value in developments emerging from the Australian system.

“I am looking forward to sharing the experience of building the NHS Genomic Medicine Service with Australia’s genomics community, including the parts that have been hard-won and are still evolving. I know Australia is approaching this challenge from a different starting point, and I hope our journey can help shape a system that works for Australian citizens at the same time as providing learning for the NHS from initiatives that have already been introduced in Australia.”

Professor Hill’s visit has been made possible through the support of sponsors AstraZeneca, Oxford Nanopore Technologies, AWS, TrakGene, Illumina, Genomical and the Human Genetics Society of Australasia.

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