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Cutting-edge personalised medicine will transform the way we prevent and treat health conditions

(Adobe Stock)

Baroness Blackwood

Baroness Blackwood

@nicolablackwood

3 min read

Imagine being able to get a timely diagnosis, be prescribed personalised treatments and experience few, if any, side effects.

Holding the potential to shrink the gap between health and wellbeing, efficiency and cost, and condition management and prevention; this is the potential personalised medicine holds.

We are all unique. But despite only 0.2 per cent of DNA varying between us, that equals around three to six million genetic differences. And it is through whole genome sequencing (WGS) that we are beginning to fully interpret our genetic blueprint. 

Jessica, for example, has a rare genetic condition which began to present from a young age. It caused epilepsy, affecting her movement and general development. WGS helped identify one variant in her genome. This meant Jessica’s body was not producing enough of the protein that transports glucose from the blood to the fluid around the brain. The solution? While there is no cure, the ketogenic diet – carefully tailored to Jessica – enables her to manage her symptoms, reducing the impact of the condition. But far too many have not been as fortunate. 

Science has advanced ahead of policy and regulation

Only five per cent of rare diseases have an approved therapy, leaving most patients to manage rather than treat their condition. Finding the right management plan can be costly to their health, wellbeing, as well as financially. But the impact on the NHS is also huge. Spending on rare disease equals 20 per cent of all United Kingdom healthcare costs.

For those with cancer, personalised medicine holds the potential to ensure having your tumour sequenced and the right therapy identified first time round. Marking the end of a trial-and-error process, which may see the patient endure unbearable side effects. But personalised medicine will not only benefit those with cancer or rare diseases.

Medicine is getting to grips with individuality. And WGS provides a huge step forward in increasing the diagnostic information available, enabling us to continue working at the cutting edge of science to benefit patients. And in the UK, the ambition is that we will accelerate the use of genomic medicine across the NHS, providing a world leading, equitable service to populations and individuals. 

By helping to deepen our understanding of our genetic blueprint, at Genomics England, we partner with the NHS to provide platforms that enable genomics to be used to provide more accurate diagnoses, more effective treatments, or even identify presymptomatic conditions. We are a living example of next generation clinical care founded on effective use of technology and data. 

As we continue to personalise medicine and stratify diseases by their molecular sub-type, every disease becomes a rare disease. Advancements in genomics have also brought a new era of precision therapies that target the genomic cause of conditions, for example the treatments now available for the rare muscle-wasting condition SMA. This is an area of enormous promise with the prospect of many precision therapies being developed, in some cases bespoke for one patient – truly individualised medicine.

One challenge this creates is that it can be complex and costly to develop advanced biotherapeutic medicines, particularly if following the traditional models of regulation and clinical evidence assessment developed for mainstream medicines in common disease. To harness this opportunity, governments and regulators must consider how these drugs are trialled, approved, and priced to ensure they are accessible and commercially viable.  

Science has advanced ahead of policy and regulation. And the opportunity lies before us for the UK to build upon our lead in genomics by creating a policy and regulatory framework in which patients – like Jessica – can benefit from these potentially curative, breakthrough treatments, marking the dawn of a new era of healthcare. 

 

Baroness Blackwood, Conservative peer and chair of Genomics England

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