How Routine Genomic Medicine 'Will Change People's Lives'

Peter Russell


July 11, 2018

To coincide with the 70th birthday of the NHS, Genomics England announced it had passed the 70,000 genomes mark. It said the milestone meant it was well on track to pass the 100,000 genome sequencing mark by the end of 2018, seen as a milestone on the road to a new era of treatment for cancer and rare diseases.

From October 1st this year, a new NHS Genomic Medicine Service, comprising 13 regional centres, will be rolled out across England to help establish genomic medicine as part of routine healthcare.

Experts have hailed the developments as a big step on the way to tailored, personalised healthcare.

Some hospitals already test tumours to look for specific changes to DNA in tumour cells, but whole gene sequencing tests the whole genome at once for all the types of DNA changes that might have occurred.


Prof Mark Caulfield

We asked Mark Caulfield, chief scientist at Genomics England and professor of cardiovascular genetics at the William Harvey Research Institute in London, to explain the latest developments and why he thought they were so important.


Medscape UK: You have been quoted as saying, "we are ushering in a new era of genomic health". Could you explain why this is such an important step for the NHS and patients?

Prof Caulfield: The UK Government made a pioneering commitment to genomic medicine in 2012/13 with the announcement of the 100,000 Genomes Project − and the creation of Genomics England to drive it.

This was no small step: population genomics on this scale had never before been attempted in healthcare using this advanced technology. The concept of a National Genomic Medicine Service with equitable access across a nation seemed farfetched.

In just five years, Genomics England, NHS England and others have driven fundamental changes in technologies, systems and processes to provide the evidence and infrastructure needed to embed genome sequencing into routine care.

Amongst many other achievements, Genomics England and NHS England have:

  • Set the standards in patient recruitment

  • Developed ethical and transparent consent processes

  • Pioneered patient engagement

  • Created a network of NHS Genomic Medicine Centres

  • Built one of the world’s few semi-automatic bioinformatics pipelines

  • Formed a world class secure research environment

The legacy of this work will be the NHS Genomic Medicine Service, which rolls out from October 2018 – the first of its kind on this scale in the world.

Medscape UK: What will happen in the field of genetic testing in the NHS from that date?

Prof Caulfield: From October 2018, the new NHS GMS will be responsible for genomic testing. Patients will move from enrolment into the 100,000 Genomes Project, into receiving a range of genomic tests as part of their routine NHS care.

Beyond 2018, Genomics England will continue to support the NHS GMS, acting as a testbed for new applications, encouraging discoveries and their translation into novel medicines and treatments, as well as working to support a thriving genomic medicine industry in the UK.

Medscape UK: Which patients will benefit from genomic medicine?

Prof Caulfield: The 100,000 Genomes Project has focused on patients with rare diseases, their families, and patients with cancer where whole genome sequencing could deliver the most patient benefit. Cancer Research UK, for example, estimates that half of all Britons will get some form of cancer at some point in their lives; whilst a large number of people are affected by a rare disease in the UK − over 3 million individuals across 7,000 rare diseases, with around half of these children.

The project is already changing people's lives. For patients with a rare disease, genomic medicine can provide diagnoses for the first time after years of uncertainty and distress (known as the diagnostic odyssey), as well as working towards reducing costs to health and social care budgets. In cancer, significant progress has been made in tackling the global challenge of extracting DNA of sufficient quality for whole genome sequencing – leading to significant redesign of tissue handling in the NHS.

Genomics England Clinical Interpretation Partnership domains are already opening up research in fields that include: cardiovascular, hearing and sight, neurology, and cancer. As our understanding of genomics grows and advances are made in genomic medicine, we are likely to see its application across many other disease areas.

Medscape UK: Why is personalised medicine such a revolutionary step for the health service?

Prof Caulfield: The scope and scale of the 100,000 Genomes Project is unparalleled anywhere else in the world – and has been made possible through the UK's unique asset − its National Health Service. The NHS, as the single biggest integrated healthcare system in the world, is able to link lifelong healthcare information with whole genome sequencing data. It is a combination that brings benefit to patients whilst also demonstrating the UK's competitive advantage in enhancing understanding of diseases, and developing products for earlier detection and treatment. 

Medscape UK: Genomic medicine has progressed rapidly in a very short space of time. How do you see this field of medicine transforming health in the next 20 years?

Prof Caulfield: At 70,000 genomes, Genomics England and NHS England are already delivering the largest national genomic sequencing programme of its kind anywhere in the world. In the next five years, however, we are likely to see genomic databases containing millions of sequences. Genomic medicine is a numbers game – the more sequences researchers can access, the greater the potential for revolutionary discovery.

A possibility is that genomics undertaken early in life will help prevent rare and common disorders in early, middle and later life.  If we combine clinical data captured using remote sensing technologies and integrated with our health record, the genome and other genomic tests, and then apply new artificial intelligence approaches we may be able to deliver better healthcare. 

In the 21st Century, being healthier for longer is the future affordability of healthcare. When set alongside precision medicine, this will allow us to afford new therapies tailored toward those for whom they will be most effective. What we can predict is that genomic medicine will bring fundamental change to healthcare – and the UK is leading the world.


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