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 third of four conversations, Health Innovation Network South London Medical Director Dr Natasha Curran asks Professor Sean Whittaker, Medical Director of the South East Genomic Medicine Service, how genomic medicine is transforming cancer care, rare disease diagnosis and outcomes for patients and families.
Natasha: Why is cancer such an important area for genomics?
Sean: Cancer has seen the most dramatic growth in genomic testing. Understanding the genetic make-up of a tumour is now critical to treatment decisions, access to targeted therapies and entry into clinical trials. Increasingly, genomics is helping clinicians understand not only which treatment may work best, but also how a cancer is likely to behave over time.
Natasha: Which recent development excites you most?
Sean: One of the most exciting is circulating tumour DNA, or ctDNA. Tumours shed tiny fragments of DNA into the bloodstream. By analysing a blood sample, clinicians can identify genetic changes within a tumour, guide treatment decisions and detect the emergence of treatment resistance far earlier than was previously possible.
For conditions such as lung cancer, ctDNA is already helping to shape treatment pathways. Looking further ahead, detecting minimal residual disease through ctDNA could reduce the need for repeated imaging and provide a less invasive way to monitor patients after treatment.
Natasha: What has genomics achieved in rare disease?
Sean: Spinal muscular atrophy, or SMA, provides one of the clearest examples of genomics changing lives. Genomic testing can now identify affected babies very early in life, allowing treatment to begin rapidly. For a condition in which timing is critical, starting treatment as soon as possible can make a profound difference to long-term outcomes.
Advances in testing also mean that families can receive results much more quickly than before, which parents greatly appreciate.
Natasha: Beyond treatment, what can a diagnosis mean to a family?
Sean: For many families, receiving a diagnosis is about much more than treatment. Years of uncertainty can come to an end. Families gain a better understanding of what the future may hold, what support is available and what options they have for family planning.
Genomics can inform reproductive choices, including IVF and prenatal testing for families affected by serious inherited conditions. Importantly, genomic findings often have implications for a whole family rather than for one patient alone. A diagnosis in one person can help identify risks in siblings, children and other relatives, creating opportunities for prevention and earlier intervention before serious disease develops.
Natasha: How are patients involved in shaping genomic services?
Sean: The South East Genomic Medicine Service has an active Public and Patient Voice group that helps us shape priorities and future developments. Its members often focus on issues that health professionals might not immediately identify as priorities.
Natasha: Can you give an example?
Sean: Many patients want to know exactly where their sample is within the testing pathway and what is happening to it. That has led us to explore digital tools that could allow patients to track the progress of their sample through the service.
Natasha: What do patients want from their genomic results?
Sean: One of the group’s main ambitions is to improve how those results are communicated. The group wants patients to receive clear, understandable reports that explain genomic findings without overwhelming them with technical terminology.
Some findings are relatively straightforward to explain, while others involve considerable uncertainty, so this is no small task. As genomic medicine becomes more common, helping patients understand their results and navigate that uncertainty with greater confidence may become just as important as generating the results themselves.
Natasha: What struck me most from this conversation is that genomics is no longer simply about finding rare inherited conditions. It is changing how we diagnose cancer, how we monitor treatment, how we support families and, increasingly, how we engage patients as partners in their own care. The science is impressive, but so is the commitment to ensuring that patients help shape how genomic medicine develops in future.
Having looked at what genomics can mean for patients and families, the final blog turns to the system around them. Natasha and Sean explore how genomic medicine is being implemented across the NHS, the challenges ahead and how health professionals can keep pace with this fast-changing field.
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