Unlocking the power and potential of genomic technology

Genomic technology could have the potential to lead to quicker diagnosis and tailored treatment. In an exclusive op-ed for Digital Health News, Baroness Nicola Blackwood, the parliamentary under secretary of state at the Department of Health and Social Care, explores this potential and what it could mean for the NHS.

The human genome is an extraordinary thing. It is the blueprint for how we come into existence, live and experience the world, and ultimately die. And each genome is unique – your personal manual for your life on earth. It contains vast quantities of information, each one with enough data to fill a computer, containing information about us that we could not have dreamed of deciphering even thirty years ago.

It is this combination of individuality and richness of data that makes genomics so powerful. By understanding the genome, on both an individual and population level, we can begin to unlock some of the fundamental questions about our health. From predicting risk of disease, to diagnosing illness before symptoms occur, to tailoring treatments to individual patients, genomics opens up huge opportunities to change the way we think about illness and treatment. Put simply, the future of personalised healthcare lies in the genome.

Having the raw materials

Yesterday’s announcement is the latest step in the UK’s journey to establish genomics as a key pillar of our healthcare service. By sequencing 500,000 whole genomes from UK Biobank, we will be creating a vast repository of data for researchers and scientists to analyse, interpret and discover. The data created will give some of the best scientific minds in the world the raw materials to carry out their research. And in wards and surgeries throughout the world, patients will benefit from this research in the form of new treatments, faster diagnoses and tailored advice to help us live longer, healthier lives.

UK Biobank originally recruited 500,000 people aged between 40-69 years in 2006-2010 from across the country to take part in this project. They have provided blood, urine and saliva samples for future analysis, detailed information about themselves and agreed to have their health followed. Over many years this has built a powerful resource to help scientists discover why some people develop particular diseases and others do not.

I am incredibly grateful to every single UK Biobank volunteer, each one of whom has donated their genetic information in the pursuit of medical advancement, to be used with their full consent, in accordance with the highest ethical standards. None of the volunteers receive payment, and none will receive results from their individual tests. Their act is an entirely altruistic one, and without their generosity this project would not be possible.

The project is unique worldwide – nowhere else is whole genome sequencing being undertaken at this scale, with this level of commitment to open access to researchers. And as part of the development of the project we will look to pilot new, innovative technologies including from the UK company Oxford Nanopore. As we prepare to exit the EU, this announcement demonstrates Britain’s commitment to remaining a dynamic, outwardly faced economy, open for business and committed to a thriving research base and life sciences sector.

Ground-breaking research

Exciting and ground-breaking though it is, this project is just one part of the UK’s wider mission to embed genomics into healthcare. The successful delivery of the 100,000 Genomes project last year by NHS England and Genomics England demonstrated the benefit of genomics for healthcare, with half of cancer patients seeing a change to their treatment and up to 60% of rare disease patients receiving a diagnosis for the first time.

The NHS Genomic Medicine Service, launched in October last year, will for the first time offer whole genome sequencing as part of routine care. So cancer and rare disease patients who could benefit from whole genome sequencing will have the opportunity to do so, on the NHS, free at the point of care.

The Accelerating Detection of Disease programme, another ground-breaking UK research project of new volunteers, will carry out up to 5 million polygenic risk scores – a risk test that focuses on vast array of small genetic mutations. And later in the year we will launch the National Genomics Healthcare Strategy, a comprehensive plan to bring together these projects and deliver the next wave of genomic innovation to benefit patients.

We are still at the very beginning of our genomics journey: the human genome was only sequenced for the first time in 2003. And every year we learn more about what makes up this unique instruction manual, and what that means for our health. But we are determined to ensure that UK patients see the benefits of these advances and make the UK the home of genomic research and healthcare.