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The UK’s world leading work in genomics heralds a new era of precision healthcare

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Baroness Blackwood

Baroness Blackwood

5 min read

From improved diagnosis and targeting of treatments in common and rare diseases, to preventative measures to prolong healthy lives, genomics has the potential to positively impact our wellbeing whilst also improving the cost-effectiveness of healthcare systems

While we have all become a little wary of claims like “scientific superpower,” the United Kingdom is acknowledged as the world leader in genomics. This is why.

Genomics is the study of a person’s genome, their entire genetic blueprint, made up of DNA. Though different types of human cells can be very different in appearance and function, they contain the same genome.

Only 0.1 per cent of DNA varies between all of us but that corresponds to three to six million differences across the genome. It is these differences that help us understand an individual’s issues – or opportunities.

Multiple genes act together with our environment to determine our hair and skin colour – height, weight, blood pressure – and for instance our risk of developing type-2 diabetes, depression, or cancer.

Sequencing a human genome means finding the sequence of someone’s unique three billion letters of DNA. Whole Genome Sequencing (WGS) is highly scalable – it becomes cheaper when you test more patients. The “wet lab” work follows the same route for all tests, this means experts can focus on the most difficult bit: interpreting results and getting patients a diagnosis.

This is especially important for rarer conditions which don’t present in a clear-cut way because it means you can test several diagnostic hypotheses at the same time. Traditional “trial and error” diagnostic methods take an average of five to seven years to diagnose a rare disease in the UK, for many patients this diagnostic odyssey is much longer.

This is why in 2013, Genomics England (GEL) was established to sequence 100,000 human genomes.

Its aim was to improve understanding, diagnosis, and treatment for patients with rare disease and rare cancers – to end the diagnostic odyssey.

By 2018, 100,000 sequences were completed, an amazing achievement by NHS England, GEL, and other partners.

To give you a sense of the scale – just sequencing one person’s genome produces 200GB of raw data – enough to fill the hard drive of the average laptop. Today GEL hosts the largest Whole Genome data set in the world.

The 100,000 Genomes Project has already delivered life-changing results for patients, with one in four participants with rare diseases receiving a diagnosis for the very first time and 50 per cent of cancer patients having actionable findings.

We are the first country in the world to provide genomic medicine throughout a national health system

Alex, for example, was undiagnosed for 18 years. He had serious symptoms requiring 28 operations, including the removal of tumours and several bouts of heart surgery. Eventually, genomic sequencing as part of the 100,000 revealed he had a condition known as Leopard Syndrome.

Although this diagnosis, as with many rare diseases, doesn’t come with a silver bullet treatment, or a big improvement in life expectancy for Alex, it was a big relief for his family to at least know what the problem was and be able to follow the latest research.

Based on this success, WGS is now available as a standard of care in the NHS for rare disease and cancer patients through the NHS Genomic Medicine Service in partnership with GEL. We are the first country in the world to provide genomic medicine throughout a national health system; this marks the beginning of the end for the diagnostic odyssey and a vital step towards delivering true precision medicine.

The value of genomic innovation though is in the benefit patients are seeing in the clinic today. Recent research reported by children’s cancer specialist Dr Jack Bartram, at Great Ormond Street Hospital, found WGS provide additional information for diagnosis in 81 per cent of cases, changed the management of the condition in 24 per cent, and reclassified diagnosis in 14 per cent.

Sadly, 75 per cent of rare disease patients are children and 30 per cent do not live past their fifth birthday. Earlier diagnosis and intervention, with the right treatment, would not only dramatically improve rare disease patients’ quality of life but would also cut costs. Spending on rare disease makes up 20 per cent of all health care costs in the UK.

For some individuals with rare conditions, WGS has brought an end to the diagnostic odyssey, providing more certainty, information, and choice. Our mission is to bring the benefits of genomics healthcare to all.

The Newborn Genomes Programme research study will sequence 100,000 newborns to explore the best ways accelerate diagnosis and access to treatments for rare genetic conditions. Every day, nine babies in the UK are born with a rare genetic condition that could be treated, prevented, or even cured, if they had been diagnosed as a newborn.

Currently we screen babies at birth for nine conditions using the heel prick test, but there are nearly 8,000 rare conditions caused by changes in genes. We estimate over 3,000 babies a year could benefit from the Newborn Genomes Programme.

Genomics in the UK is changing the future of health and medicine, with the potential to underpin a new era of precision healthcare. From improved diagnosis and targeting of treatments in common and rare diseases, to preventative measures to prolong healthy lives, genomics has the potential to positively impact personal health and wellbeing, whilst also improving the efficiency and cost-effectiveness of running healthcare systems in an ageing society.

Baroness Blackwood is a Conservative peer and chair of Genomics England

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