(BJ-HC/ Vox Pop) Genomics has great potential to transform healthcare, says Sir John Chisholm, Executive Chair of Genomics England, leading to better diagnosis and, in time, new drugs and treatments. In rare disease, whole genome sequencing has already made a real difference – and is starting to deliver diagnoses to families who have been through years of inconclusive tests and unexplained symptoms.

What is the current status of genomics in the UK? Who are the forerunners in this field, in the UK?

The UK’s 100,000 Genomes Project – which is sequencing 100,000 genomes from NHS patients with rare diseases, cancers and infectious diseases - is the largest initiative of its kind in the world. It is ground-breaking because it is based on patients in routine care and is establishing protocols and standards that will be applied across the entire healthcare system. The UK and the NHS are in a unique position to deliver a project like this because we have a health service that operates in a co-ordinated way and a deep understanding of science and DNA.

We have established NHS Genomic Medicine Centres across the country largely based on the major research hospitals in our major cities, which then provide the hubs for treatment in their geographical territories. The centres are the focus for the investments in informatics and pathology, for instance, which are a necessary precursor to the introduction of genomic medicine.

For the analysis pathway we work with a range of leading international and UK-based technology partners and a large number of biotech and informatics companies, including clinical interpretation companies. The latter category is the area where the necessary science is still to be established, but by subjecting our 100,000 genomes to deep analysis from the thousands of scientific and clinical experts in our Clinical Interpretation Partnership domains (GeCIP) we will have provided the opportunity for major advances.

One of our aims is to kick-start the UK genomics industry - and we are always open to working with new companies who can provide expertise for some of our bioinformatics challenges.

What are the applications of genomics that are showing most promise?

Genomics has great potential to transform healthcare, leading to better diagnoses, and in time, new drugs and treatments.

In rare disease whole genome sequencing has already proven to make a real difference. This project has started to deliver diagnoses to families who have been through years of inconclusive tests and unexplained symptoms.

In cancer we’re working with scientists and clinicians to overcome the complex scientific challenge of getting enough tumour DNA of the right quality to sequence within a standard NHS setting. No-one else in the world has a solution for this and we are making good progress.

We’re focused on rare diseases and common cancers in this project because these are clearly genetic disorders and areas where there is unmet need. But when we’re done, the systems and infrastructure will be in place for an NHS genomic medicine service for anyone who might benefit.

Are there any dangers of personalised healthcare tools using genomics data becoming more widely and freely available in the UK?

This is an incredibly exciting field but it’s also at the cutting-edge of science and healthcare. As with the introduction of any new technology into healthcare, we need to advance the science but take all the necessary steps to do so safely. The most significant feature of genomic discovery that differs from other biomedical discovery is that it depends on the collection and analysis of truly colossal volumes of personal data. The necessary volumes can only come from routine care - and so patients must be confident that the benefit to them and the wider community is worth the (very small) risk of having their data aggregated into giant datasets.

So at this stage we take extreme precautions to keep data safe, even at the expense of making it harder for legitimate users to gain access. As we advance the science and provide more patients with beneficial diagnoses so I expect the pendulum to swing and the virtue of what we are doing to become more obvious to the public. Consequently, the restrictions we impose upon ourselves will become less necessary.

So how big is the future of genomics in the UK?

The future looks very promising for genomics in the UK. The 100,000 Genomes Project will lead to genomic medicine becoming a part of day-to-day NHS practice - and the data infrastructure will ensure frontline clinicians can make the most of the knowledge that genomics provides.

One of the biggest changes patients and clinicians will see is the development of an NHS personalised medicine service where diagnosis, treatment and management is based on an understanding of the underlying cause of a condition and an individual’s response to therapies – rather than the old fashioned ‘one size fits all’ approach to a group of symptoms. Central to this will be the interoperability and capture of clinical data, allowing a full characterisation of an individual and population-level analysis of this information to develop a medical evidence base.

And the really exciting aspect of this will be the opportunity for an individual citizen to gain an understanding of her/his health drivers and begin to take control their own wellbeing. Health becomes something you do, not something that is done to you.

Is there anything else that you think important to communicate to our readers on this subject?

The 100,000 Genomes Project is just the start of bringing genomics into the clinic. The only way we’re going to fully move to a new model of personalised medicine is if we have robust and scalable solutions for data storage - and a reliable IT infrastructure that can manage and analyse genomic data.

The knowledge generated from this project will have an impact on the entire healthcare workforce, especially in the health IT space, so we’d like readers to come and talk to us and engage in this area. You can visit our website to stay up to date on progress or follow us on Twitter @GenomicsEngland. 

Sir John Chisholm is a Cambridge graduate who started work in the automobile industry. His career took flight when he founded CAP Scientific Ltd, which grew rapidly to become a core part of the CAP Group plc and subsequently the Sema Group plc of which he was UK Managing Director. He was then asked by the government to take on the transformation of its defence research laboratories into a commercial organisation. These became an internationally successful technology services company and were floated on the LSE as QinetiQ Group plc of which Sir John became Chairman in 2006.

He was asked to take the Chair of the Medical Research Council and in 2009 he also took the Chair of Nesta. Sir John retired from QinetiQ in February 2010.

Sir John is a past president of the Institution of Engineering and Technology (IET) and holds a number of honorary doctorates and fellowships, including the Royal Academy of Engineering. He was knighted in 1999.

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