(BJ-HC/ Vox pop) Early findings from the 100,000 Genomes Project are giving us ideas on how we can use, adapt and introduce whole genome sequencing (WGS) into clinical care in the UK, says NHS England Senior Responsible Officer for Genomics, Professor Sue Hill. When genomics can, for example, tell a family that something as simple as changing their child’s diet could transform their quality of life is when this technology really starts to come into its own.

What is the current status of genomics in the UK from where you are standing? Where is the field currently making most inroads? Who are some of the forerunners, in the UK?

It is a very exciting time in the UK for genomics at the moment - we are now starting to see the early findings from the 100,000 Genomes Project and learning how we can use, adapt and introduce whole genome sequencing (WGS) into clinical care in the UK.

It’s clear from international conversations that this is an area where the UK is leading the world in so many respects. Scientists and clinicians are now devising, developing and testing new approaches to, for example tumour tissue sample handling, preparation and assessment methodology – setting global standards for tumour DNA extraction, whole genome sequencing and its analysis.

In addition, the sample meta-data and linkage with clinical phenotypic data is providing a rich, robust resource for understanding the pathological significance of WGS for patient benefit, scientific discovery and to underpin the systematic introduction of personalised medicine.

These new ways of working will deliver more accurate results for NHS patients and will see further development and introduction of bioinformatics knowledge and skills across the NHS.

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

There is no doubt that the application of WGS technology, which sequences all of the genes in an individual rather than the 1% or so that is currently available in the NHS is providing a greater diagnostic yield and greater treatment options for patients.

For example, in the 100,000 Genomes Project the initial results from Great Ormond Street Hospital in London and Newcastle are life changing for the patients and their families. Clinicians have been able to give some families a molecular diagnosis, setting them free to make decisions about the treatment options for their child and how they move forward with future plans for their family. When genomics can tell a family that something as simple as changing a child’s diet would transform their quality of life is when this technology really demonstrates its power and impact.

The foundations for a personalised medicine service across the NHS are being delivered by 13 NHS Genomic Medicine Centres to support and deliver the 100,000 Genomes Project. Eleven Centres were launched in December 2014, with two more established a year later. The first 11 centres started recruiting patients with rare diseases early in 2015. One year on, and with two new centres joining their ranks, the infrastructure is now in place to ensure both equity of access to the Project for patients with both rare diseases and cancer and to provide the building blocks for personalised medicine across England.

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

The biggest challenge of any tool is that it relies heavily on the quality of the underpinning database. What makes the 100,000 Genomes Project unique is its ability to couple a huge volume of genomic data from patients who have consented to be part of the project with the wealth of additional relevant information from NHS records. Good quality information from quality assured sources is crucial to ensuring that effective personalisation can be delivered to improve outcomes, as well as creating a safe haven for patient level data with carefully controlled access to de-identified data for research and training purposes.

So how big is the future of genomics in the UK in your eyes? How much does the field hold the keys to a sustainable future for the NHS?

The genomic revolution, in its totality with the adoption of other components of the functional genomic pathway (i.e. proteomics and metabolomics), which enable the expression of any genetic mutation within an individual to be understood, which will transform healthcare around the world. Traditional ‘one size fits all’ medicine is starting to reach the end of the line, with many drugs only effective in 30-60% of patients. The learning from genomics, coupled with improvements to established diagnostics and cutting-edge bioinformatics will allow health systems to build a much greater understanding of the underlying drivers of disease and to match this with medicines and other interventions known to be effective in the particular underlying cause and to reduce or minimise any adverse drug reactions.

It will allow disease to be identified more precisely, and at an earlier stage – reducing the overall burden of disease and allowing more targeted treatment and reducing potential side-effects. All of these factors should contribute significantly to improving the quality of patients’ lives and also to the sustainability of the NHS. As genomic knowledge develops, this should help drive new prevention strategies where personalised strategies can be used to help individuals to avoid ill health where they have particular predispositions.

Through NHS Genomic Medicine Centres, clinicians are moving to a more scientifically advanced diagnosis and characterisation of patients to deliver more precise, targeted diagnoses and treatments. With the active participation of NHS patients, clinicians, scientists and researchers, we are on our way to deliver more predictive and preventive medicine; more precise diagnoses; targeted and personalised interventions.

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

The NHS, like many of the healthcare systems around the world, has proved slow to make the most of the potential of digital technologies and bioinformatics. The 100,000 Genomes Project and the work around developing a personalised medicine service for the NHS is spearheading the transformation of the service to make much more effective use of the technologies available and identifying significant new areas for development.

This has required informatics and data handling solutions to be introduced within and across NHS organisations. Informatics professionals working with clinicians have made this happen, sometimes introducing solutions to extract digital information from 1,000 different stand-alone systems to produce one integrated phenotypic report for one participating patient in the 100,000 Genomes Project. This is what will be central to personalised medicine, together with the ability to use analytical platforms to determine the pathological significance of genetic mutations and to compare within and across patient groups and with databases of effective treatments.

It is definitely the case that a new path for the NHS is opening up. The NHS Constitution makes it clear that a central principle of the health service is that it operates at the limits of science. The NHS is just starting to wake up to the importance of bio-informaticians as a major professional group, and there will be a real need to attract and develop the most talented individuals in this area into the health service to provide the workforce we need to work with the clinicians in the future.

Thanks to the advances in Whole Genome Sequencing and data analytics, scientists and clinicians are exploring new ways of identifying the underlying cause of disease to deliver more precise, targeted diagnoses and treatments. Life Sciences Minister, George Freeman, described the 100,000 Genomes Project and the associated work as the UK’s ‘Moonshot moment’ – where the skill, endeavor and technological brilliance of the nation led the race to produce an outcome that leads the world’s thinking.

Professor Sue Hill OBE PhD DSc CBiol FSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England and the head of profession for the 50,000 healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms. She is a respiratory scientist by background with an international academic and clinical research reputation.

Professor Hill has a broad portfolio of policy responsibilities across NHS England and the wider NHS and provides professional leadership and expert clinical advice across the whole health and care system.  In particular, Sue is the Senior Responsible Officer for Genomics in NHS England has established NHS Genomic Medicine Centres and is now leading the NHS England Personalised Medicine strategy.

A significant part of her role involves working across government, with the Department of Health, with the NHS, Public Health and Health Education England and other external stakeholders to inform policy, influence legislation, deliver strategic change and to introduce new and innovative ways of working.

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