Conversations on genomics: Bringing genomic medicine into mainstream care

Genomics – the study of DNA and RNA and how genetic variation influences health and disease – is increasingly shaping clinical practice across the NHS, but remains poorly understood by many people working in health and care.

In the final conversation, Health Innovation Network South London Medical Director Dr Natasha Curran asks Professor Sean Whittaker, Medical Director of the South East Genomic Medicine Service, to examine how the national genomic medicine service was built, what implementation challenges remain and what success could look like over the next five years.

Natasha: When you look at what the NHS has achieved in genomic medicine, what stands out most?

Sean: The single biggest achievement is the creation of a national genomic medicine service. Building a nationally coordinated genomic testing infrastructure in less than a decade is an extraordinary achievement.

Much of that success stems from the vision and leadership behind the 100,000 Genomes Project, which helped lay the foundations for the NHS Genomic Medicine Service we see today.

Natasha: Why was the 100,000 Genomes Project such an important turning point?

Sean: Although it was presented as a diagnostic programme, it also functioned as a large-scale research initiative. It generated evidence, built capability and engaged clinicians across many different specialties. By the time the NHS was ready to move towards a clinical genomic testing service, much of the groundwork had already been laid.

Natasha: How did genomic medicine then move from research into routine care?

Sean: The transition was far from simple. Funding mechanisms had to be established, national commissioning arrangements created and a genomic test directory developed. At the same time, services needed to move beyond pockets of excellence and become much more equitable and widely available.

Before the national service was created, access to testing could vary considerably depending on where a patient lived. Rare disease services were relatively well established through clinical genetics, but access to genomic testing for cancer was often inconsistent. One of the NHS Genomic Medicine Service’s major achievements has therefore been to improve equity of access, so that testing is available because of clinical need rather than postcode.

Natasha: What are the biggest implementation challenges now?

Sean: Education remains one of the biggest. Historically, genomic testing was seen as the domain of specialist genetics services. Today’s reality is very different. Cancer specialists routinely use genomic information, and clinicians across a growing number of specialties need to understand when genomic testing may be appropriate.

Genomic medicine has to continue moving into mainstream clinical practice. That means helping clinicians feel confident discussing inherited risk, obtaining consent and recognising when testing may be useful. It also means recognising that genomic medicine is no longer solely the responsibility of genetics specialists.

Natasha: Is genomics becoming part of everyday medicine?

Sean: Increasingly, yes. It is moving from a highly specialised activity towards something that will support population health approaches, prevention programmes and mainstream clinical pathways.

That represents a significant cultural shift for health professionals. Many clinicians trained at a time when genetic testing was rare and highly specialised. Today, they are increasingly being asked to incorporate genomic thinking into routine care.

Natasha: Which scientific developments are likely to shape the next phase?

Sean: Transcriptomics, the study of RNA expression, is one area that is likely to become increasingly important. While genomics explores what genes are present, transcriptomics helps us understand which genes are active and how biological pathways are functioning.

That could be particularly important in cancer and inflammatory diseases. Understanding the molecular pathways involved may help clinicians identify the most effective treatment earlier, rather than working sequentially through several different therapies.

Natasha: Will genomics also change how we evaluate new treatments?

Sean: Almost certainly. Future clinical trials are increasingly likely to be driven by biomarkers rather than traditional disease categories. In cancer, for example, a treatment may target a particular genetic or molecular change regardless of where in the body the cancer originated. That challenges the traditional way medicine has organised diseases according to organs and body systems.

As genomics becomes more sophisticated, regulators, researchers and organisations such as NICE will need new frameworks for evaluating treatments. That will be particularly important for rare diseases, where large-scale clinical trials may not be feasible.

Natasha: What has surprised you most about rolling genomics out at this scale?

Sean: The success of it. Establishing a national genomic service within a resource-constrained health system has been remarkable. It has depended on leadership, political support, scientific advances and the commitment of colleagues across the NHS who have helped move genomic medicine from vision to reality.

Natasha: What would success look like for the South East Genomic Medicine Service over the next five years?

Sean: It would mean continuing to industrialise genomic testing while maintaining high-quality clinical interpretation. We will need to make greater use of automation, robotics and AI to improve efficiency and turnaround times, while ensuring that expert clinical scientists remain central to interpretation and decision-making.

Our strategic priorities include expanding pharmacogenomics, supporting innovative approaches such as circulating tumour DNA testing, preparing for wider use of whole genome sequencing and contributing to population health programmes. Throughout all of that, we must ensure that genomic services help to reduce health inequalities rather than widen them.

Natasha: How can organisations such as the Health Innovation Network South London help?

Sean: The recurring theme is implementation. Organisations like the Health Innovation Network South London can support education, help spread innovation and enable genomic medicine to reach clinicians working beyond specialist centres.

Rather than relying only on traditional teaching, there may be opportunities to create communities of practice in which clinicians build their confidence through practical application, for example through work on familial hypercholesterolaemia.

Natasha: Across these four conversations, one message has become increasingly clear: genomic medicine is no longer a future ambition. It is already influencing cancer care, rare disease diagnosis, prescribing decisions, prevention strategies and service design.

The challenge now is to ensure that clinicians, patients and healthcare systems are ready to make the most of it. As genomic medicine moves into mainstream care, success will depend not only on scientific discovery, but also on implementation, education, equity and our ability to translate innovation into better outcomes for patients.