A momentous milestone in the future of the NHS

NHS England’s Chief Scientific Officer celebrates the progress made on Genomics through the hard work of NHS teams across the country.

Last year we achieved a momentous milestone that, in years to come, will be seen to be an important leap forwards in the development of healthcare. One made possible through the unique nature of our NHS, the commitment and drive of the staff that work within it and participation of patients and society in moving the service forward.

This milestone sits at the heart of the future direction of care as set out in the NHS Long Term Plan.

In December, Genomics England announced that the 100,000th genome had been sequenced through the world-leading 100,000 Genomes Project, only 6 years since the project was conceived and little over three years since recruitment of NHS patients started through the national network of NHS Genomic Medicine Centres.

While there are many genomics initiatives across the world, two things have made the 100,000 Genomes Project special and particularly significant:

Firstly, the Project has recruited participants through routine NHS care and treated them through routine channels – providing proof of concept for the use of whole genome sequencing in a clinical setting. It established the infrastructure and processes within the NHS to both validate and determine the actionability – the clinical use – of the results. So every participant can not only receive the outcome of the test – but know what it means for them and their families and any treatment or further tests they may require.

This built upon and involved existing services – from genetics, cancer and lab services through to specialities as diverse as cardiology and ophthalmology. In doing so it provided the physical and cultural foundation for NHS genomic medicine in the years to come.

Secondly, the sheer scale of the Project has generated a huge evidence base to drive forward the discovery of new treatments and care approaches. It demonstrated the importance of sharing data for multiple purposes – including a protected and safe ‘reading library’ environment to allow researchers in academia and industry to establish new genomic causes of disease.

The strong and effective partnership between the NHS and Genomics England made these advances – and their implementation into day-to-day care – a fundamental part of the future shape and direction of the NHS.

We now have the largest cohort of cancer patients in the world – more than 15,000 individuals – providing significant opportunity for new breakthroughs. In rare disease, where numbers are even greater, researchers have already identified new discoveries – benefitting both the individuals involved and fellow patients with particular conditions.

The achievement is more than just numbers, but comes through the tremendous transformation delivered by the efforts of NHS teams up and down the country, firmly rooting the principles and practice of genomic medicine into the warp and weft of the National Health Service – driving delivery of the Long Term Plan objectives

It is that core NHS Value – of striving to do the best for the patients – that has driven people to go the extra mile to make genomic medicine a reality. When technical issues have come up – such as ensuring high quality of DNA when a tumour is removed from a patient – the scientists and doctors have stepped up to the mark to devise new practical approaches to tackling each problem. More importantly, enthusiastic professionals – clinicians and managers alike – have spent hours engaging with their colleagues, sharing learning and showing how new ways of thinking and new models of care can be applied for patient benefit, without disrupting core clinical activity.

This has led to the most impressive shift in NHS approach that I have seen in my four decades in the NHS – delivered at a speed that few of us would have believed possible.

This transformation and commitment puts the NHS in the remarkable world-leading position of being the first country to have a national NHS Genomic Medicine Service (NHS GMS). Launched last October, and rolling out over the next 18 months, the NHS GMS will provide fair and equitable access to the full range of genomic testing to the country’s entire 55 million population. It is unique in providing a comprehensive Genomics offer from single gene to WGS – all embedded in routine care and working with clinicians across the NHS determine the significance of the result and the actionability and access to the right treatments

None of this would have been possible without the contribution of each individual participant who have altruistically given their samples and data to take this national endeavour forward. But I would like to say a special, and personal, thank you to each one of the tens of thousands of NHS staff who have worked so hard to make that contribution possible – and, together, to build a whole new facet of our health service of which we should all be very proud for many years to come.

Sue Hill

Professor Dame Sue Hill DBE FMedSci FRSB FRCP(Hon) FRCPath (Hon) FHCS (Hon) is the Chief Scientific Officer (CSO) for England and a respiratory scientist by background.

Throughout her career she has led on large-scale priority programmes across government and in NHS England including as the senior responsible officer for Genomics in the NHS, introducing a world-leading and nationwide Genomic Medicine Service, building on her work in heading up the NHS contribution to the 100,000 Genomes Project.

She has also played a pivotal role in the national COVID-19 programme leading the development and deployment of testing technologies into use for the UK population and co-directing the whole-genome sequencing of SARS-CoV-2 programme.

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