Leveraging Genomics to Empower the Future of the NHS: Aligning with the Darzi Review’s Vision

George Busby, Allelica CSO & Co-Founder

Lord Darzi’s Independent investigation of the NHS in England (the Darzi Review) published yesterday provides a comprehensive analysis of the current state of the NHS and underscores the urgency needed to reform the health service to meet the demands of the 21st century.

The UK government has responded with a new strategy for the NHS that will comprise three core pillars: digitization, strengthening primary care in the community, and a focus on prevention. At the heart of this roadmap for revitalising the NHS lies an immensely powerful tool: genomics.

The UK is home to world-leading genomics researchers and has pioneered genomic initiatives such as Genomics England, Our Future Health, and UK Biobank, all of which have laid the groundwork for a revolution in healthcare.

Here, we argue that now is the time to harness the incredible advances in genomics that have been achieved through these resources to ensure the NHS not only survives but thrives in the face of mounting challenges. Although this revolution will involve a wide range of technological innovation and policy change, genomics can play a key role in each of the UK Government’s three steps to a better health system.

1. Moving from Analogue to Digital: Genomics as the Backbone of a Modernised NHS

The shift from an analogue to a digital NHS is about more than just technology, it’s about revolutionising how we understand and treat disease. Genomics is uniquely positioned to be the backbone of this transformation, offering insights that can fundamentally change patient care.

Genomics England and the Power of Genomic Data Integration

Genomics England’s 100,000 Genomes Project, one of the largest and most comprehensive genomic initiatives globally, has already demonstrated the transformative power of genomic data. By sequencing the genomes of NHS patients with rare diseases and cancers, this project has provided unprecedented insights into the genetic underpinnings of these conditions. The integration of such genomic data into Electronic Health Records (EHRs) across the NHS would allow for more precise, personalised care. For instance, patients identified with specific genetic mutations associated with cancer could receive targeted therapies that are more effective and have fewer side effects than traditional treatments.

Real-life examples highlight the potential impact. A 2021 study reported that a patient with a rare form of leukaemia was treated with a novel targeted therapy identified through genomic sequencing, resulting in a remarkable recovery. This case exemplifies how integrating genomic data into routine cancer care can lead to life-saving interventions that would have been impossible with a one-size-fits-all approach.

Our Future Health: A Digital and Genomic Infrastructure for Tomorrow

Our Future Health, the UK’s largest health research program, aims to create a detailed picture of the nation’s health by combining genetic, clinical, and lifestyle data from millions of volunteers. This program can enable exactly the kind of digital NHS envisioned in the Darzi review, providing a rich dataset that can be used to develop predictive models of disease. The integration of such data into the NHS’s digital infrastructure would enable real-time, data-driven decision-making, allowing clinicians to anticipate and prevent health issues before they arise.

For example, data from Our Future Health could be used to identify population-level trends in genetic susceptibility to conditions like type 2 diabetes. By integrating this information into public health strategies, the NHS could proactively target at-risk populations with preventive interventions, reducing the incidence of disease and alleviating the burden on healthcare services.

2. Strengthening Primary Care in the Community: Genomics as a Catalyst for Personalized Medicine

Primary care is the cornerstone of the NHS, and enhancing its role within the community is critical to delivering proactive, patient-centred care. Genomics can be a powerful tool for personalising primary care, ensuring that interventions are tailored to the individual rather than relying on a one-size-fits-all approach.

UK Biobank: Transforming Primary Care with Polygenic Risk Scores

The UK Biobank, with its vast repository of genetic and health data from half a million participants, has been instrumental in advancing our understanding of how genetics influences health. One of the most promising applications of this data in primary care is the development of Polygenic Risk Scores (PRS). These scores aggregate the effects of multiple genetic variants to estimate an individual’s risk for common diseases, such as coronary artery disease, diabetes, and cancer.

In practice, PRSs can be used to identify individuals at high risk of developing these conditions long before symptoms appear. For instance, a patient with both elevated clinical risk and a high PRS for coronary artery disease could be accerlerated onto lipid-lowering therapy like statins, or enrolled in a personalised prevention program that includes lifestyle modifications, regular monitoring, significantly reducing their risk of a future heart attack. For those at higher risk, intia The urgency to integrate such tools into primary care cannot be overstated; with the NHS facing unprecedented pressures, proactive care that prevents the most common diseases before they start is essential.

Genomics in Pharmacogenomics: Tailoring Treatments in Primary Care

The ability to tailor treatments to an individual’s genetic makeup — known as pharmacogenomics — has the potential to revolutionise primary care. The NHS spends billions each year on medications, yet many patients do not respond to standard treatments or experience adverse drug reactions. By integrating pharmacogenomic testing into primary care, clinicians can ensure that patients receive the right medication at the right dose, reducing the trial-and-error approach that currently dominates prescribing practices.

Take the example of antidepressants: genetic testing can identify patients who are likely to respond well to specific drugs, enabling GPs to prescribe the most effective treatment from the outset. This not only improves patient outcomes but also reduces the economic burden on the NHS by decreasing the need for follow-up appointments and additional treatments.

3. Prioritizing Prevention: Genomics as the Driver of Predictive and Preventive Health

The UK government’s emphasis on prevention aligns perfectly with the potential of genomics to predict and prevent disease. By moving from a reactive to a proactive approach, the NHS can significantly reduce the incidence and severity of many conditions, ultimately saving lives and resources.

Urgent Need for Population-Wide Genomic Screening

The UK’s expertise in genomics positions it uniquely to lead the world in population-wide genomic screening. Expanding current screening programs to include genomic testing could have a profound impact on public health. For instance, screening for genetic variants associated with Lynch syndrome — a hereditary cancer syndrome — can enable early detection and intervention, preventing thousands of cases of colorectal cancer each year.

The success of such programs relies on the urgency with which they are implemented. The NHS must act swiftly to incorporate genomic screening into routine care, ensuring that all patients, regardless of background, have access to the benefits of early detection and prevention.

Polygenic Risk Scores in Action: Preventing Common Diseases

Polygenic Risk Scores (PRS) have the potential to transform the prevention of common, multifactorial diseases that account for the majority of the NHS’s workload. By using PRS to identify individuals at high risk for conditions like obesity, type 2 diabetes, and cardiovascular disease, the NHS can implement targeted prevention strategies that significantly reduce the burden of these conditions.

Consider the example of a middle-aged patient with a high PRS for obesity and type 2 diabetes. Rather than waiting for the patient to present with symptoms, the NHS could proactively offer personalised lifestyle interventions from early adulthood, such as dietary counseling and exercise programs, to prevent the onset of disease. This approach not only improves the patient’s quality of life but also reduces the long-term costs associated with managing chronic conditions.

Genomics must play a role in maximising the impact of the Darzi Review

The UK Government has laid out a clear and urgent roadmap for the future of the NHS, but the success of these reforms depends on the integration of genomics into every aspect of healthcare. The UK is uniquely positioned to lead this revolution, thanks to its world-class genomic initiatives such as Genomics England, Our Future Health, and UK Biobank. These programs have already demonstrated the transformative power of genomics, but to realise their full potential, we must act now.

By embedding genomics into the fabric of the NHS, we can create a health service that is not only more efficient and cost-effective but also more personalised and preventive. The challenges facing the NHS are immense, but with genomics as a core component of the solution, we can build a future where every patient receives the right care at the right time, preventing disease before it starts and ensuring that the NHS remains a beacon of excellence for generations to come. The time for action is now — the genomics revolution must be at the heart of the NHS’s transformation.