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The challenges of making genomics a reality for patients today, not tomorrow

Creating transformative medicines

Dr Gillian Burgess It took 13 years, $2.7bn and more than 1,000 researchers across six nations to reveal the three billion letters of our genetic code. Back in the year 2000, it was hailed as a triumph of science and reason. It ushered in a new era of what we now call personalised medicine. Better screening. Better diagnoses. Better, safer and targeted treatments for patients. Fast-forward 18 years and more than ever we see the potential of how precision medicine could transform care. But that can only happen if patients can access the medicines.

Cystic fibrosis is one of the conditions where our understanding of genomics is transforming treatment and care. Unlike cancer or other diseases where there are often a multitude of causative factors, cystic fibrosis is caused by a mutation in a single gene. It is hard to imagine that in many cases changing just three letters in a three billion genetic code could have such profound consequences. The symptom most commonly associated with the condition is progressive lung damage, but cystic fibrosis affects a multitude of organs in the body meaning half of patients don’t make it to their 31st birthday. It remains one of the most common genetic conditions and the UK has the second highest number of patients in the world.

Back in 1989 when the cystic fibrosis gene was identified there was no agreed hypothesis to explain how mutations in the gene cause the condition and no treatment for the underlying cause. Almost ten years later, the Vertex cystic fibrosis programme began as a small research project using a new approach to drug development. High volume testing was used to identify candidate molecules to fix the broken molecular mechanisms. To put this in context, developing the first cystic fibrosis medicine that treats the underlying cause took 15 years of research by hundreds of people and the design, synthesis and testing of over 200,000 unique molecules. That medicine now treats approximately 5% of cystic fibrosis patients in England. The testing of a further 164,000 novel molecules means that there are now medicines with the potential to treat half of cystic fibrosis patients in the UK. That process of design, synthesis and testing molecules continues and brings the prospect of medicines able to treat the underlying cause of disease closer in 90% of patients.

On this research journey, what we have realised is there is lots of good science and learnings that can be applied to create transformative medicines in other serious conditions where there is clear unmet clinical need. The ability to culture the cells in the lab that the prospective treatment works on has been key for Vertex’s success. It provides a deep understanding of what is going wrong and helps the transition of research studies into the clinic. This approach is now being applied to diseases such as sickle cell, a group of inherited blood disorders.

However, there are some concerns that medical innovation is outpacing the systems and processes used by the NHS to make new medicines available to those who need them. The Chief Medical Officer’s annual report last year focused on genomics and highlighted that a fundamental shift is required in how new transformative medicines are developed and appraised for use in healthcare systems. The appraisal system in the UK needs to reflect that specific genes and pathways underlying genetic diseases seldom respond to traditional pharmaceutical approaches and so precision medicine requires risk-taking innovation.

The Life Sciences Industrial Strategy published in the autumn echoes many of these sentiments. In particular, it outlines the need for industry to take on bold, far-sighted ambitions in the life science industry with the intention of creating commercial success underpinned by novel technology and higher risk science. The report singles out Vertex among a handful of successful biotech companies with highly innovative products. But our approach and success also hinges on patients being able to access our medicines.

In the past six years Vertex has brought to market the first and only cystic fibrosis medicines that treat the underlying cause, with the potential to treat nearly half of cystic fibrosis patients in the UK. But only 5% of patients in England can currently access these medicines routinely through the NHS. Over the next seven years, Vertex anticipates submitting additional applications to the NHS for novel cystic fibrosis medicines or to extend the use of current medicines. We hope this means 90% of cystic fibrosis patients will one day be eligible for medicine able to treat the underlying cause of the disease.

We recognise the situation with cystic fibrosis in the UK needs a unique solution. That is why we have submitted a bold new proposal to Government to provide timely access for all eligible patients to our current and future portfolio of cystic fibrosis medicines.

The Chief Medical Officer opened her genomics report by telling us genomics is not part of tomorrow, it’s here today. To make this a reality for all patients who could benefit from precision medicines, we need to work together.

Dr Gillian Burgess is site head of UK Research and Vice President at Vertex

In association with


28th February 2018

From: Sales



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