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Without challenge, there is no change – the move to precision medicine

I don’t need to tell you that pharma has changed, that it is still changing at speed, or that change is the new normal. I don’t need to tell you because you − more than anyone else − already know. The passing of the blockbuster era has caused uncertainty. Without the superstar drugs of old, where does the industry go next? It’s a serious challenge, but without challenge, there is no change. The answer, of course, is the scalar shift from blockbuster generic to precision medicine specific.

Genomics England strives to address challenges and deliver change. We were established in 2013 to provide proof of concept for genomic medicine in a health system at scale. At the time, many said it couldn’t be done.

Just five years later, Genomics England has driven work to embed genomic medicine into routine care in the world’s largest publicly funded health system – the NHS. From ethics to consent; compute to storage; a virtual research environment to extensive patient engagement; a semi-automatic bioinformatics pipeline to the clinician and patient feedback mechanisms – and all points between. By the end of 2018, we will have sequenced 100,000 genomes and the NHS will roll out its world-leading Genomic Medicine Service (GMS) into routine clinical care.

Today, Genomics England already holds the world’s largest collection of whole genomes with associated clinical data. But what next, as we move beyond the 100,000 Genomes Project? In the next five years we aim to scale up 50 fold; sequencing up to 10 per cent of the UK population.

Genomics England has ambitions beyond the clinic, with a mandate to kickstart a thriving UK genomics industry. Since 2017, this has been carried forward by our Discovery Forum. It brings together over 100 leading players in the genomics sector with patients, researchers and government to accelerate the translation of discovery – from the bench to the bedside.

A promising strand being explored by the Discovery Forum is the use of whole genome sequencing (WGS) to better understand patient outcomes. Using WGS allows highly effective patient stratification: the ability to identify pharmacogenomic biomarkers associated with response, and then use these biomarkers as companion diagnostics to select those patients who will best respond to specific drugs. The approach impacts all stages of the drug development pipeline; from discovery research to clinical development to post marketing. Genomics England brings a unique asset here, with the opportunity to link to national scale longitudinal data provided by the NHS. It could transform trial design, improving efficiency, efficacy and, ultimately, drug safety.

Genomics is already being used to systematically inform ongoing drug development. The potential of the approach can be seen in Pembrolizumab: initially approved to treat metastatic melanoma, in 2017 it was additionally approved for any unresectable or metastatic solid tumour with certain genetic anomalies. This is the first time that the US FDA has approved a cancer drug based on tumour genetics rather than tissue type or tumour site.

Challenge is bringing positive change. But we are exploring the unknown, with significant ethical and societal, as well as industry and regulatory, implications. It is an unprecedented shift in the relationship between patient, researcher, regulator and industry and demands partnership on a similarly unprecedented scale. Platforms such as Genomics England’s Discovery Forum and events such as the Precision Medicine & Biomarkers Leaders Summit are now critical components, creating the collaborations to truly realise the opportunities of genomic medicine.


Will Spooner is the Commercial Programme Delivery Lead at Genomics England. He will give his presentation “Bedside to Bench: Translating Genomic Medicine into Research Discovery” at the Precision Medicine & Biomarkers Leaders Summit.


This conference will take place in Munich next week. The agenda includes 2 tracks dedicated to Biomarkers. Take a look at the agenda to find out more.

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