NHS: Long-term Sustainability

Baroness Blackwood of North Oxford Excerpts

Thursday 18th April 2024 Lords Chamber

[Baroness Blackwood of North Oxford (Con)]

My Lords, I declare my interests as chair of Genomics England and Oxford University Innovation and a board member of BioNTech. It is a great pleasure to follow the noble Lord, Lord Patel, who is an eternal champion of the NHS and a great expert in these matters. I am grateful to him for convening today’s important debate.

As time is short, I will focus on the role of genomic technologies in future-proofing the NHS. From Crick, Watson and Franklin discovering the double helix structure to the Human Genome Project, the UK has long been at the forefront of genomic discovery. With the 100,000 Genomes Project we did something quite different—we drove that discovery into the heart of the clinic for patient benefit. Today Genomics England hosts the largest clinical whole-genome dataset in the world. Recruitment of this cohort was complete in 2018 but analysis is still ongoing, increasing the diagnostic yield all the time. In rare diseases this is over 30% and rising, while in some individual conditions, such as cystic renal disease, it is over 60%.

Each of these diagnoses is a life changed. One 10 year-old girl was admitted to intensive care with a life-threatening condition. It turned out that she had been undiagnosed with a rare condition for over 7 years with more than 300 secondary care episodes, costing the NHS over £350,000 to date. It took whole-genome sequencing to uncover a genetic deficiency and provide her and her family with a diagnosis at last, ending her diagnostic odyssey. Moreover, a bone marrow transplant proved curative. From sequencing to treatment in her case cost £70,000, just 20% of her pre-diagnosis healthcare costs. This sounds like an edge case, but rare disease patients have an average of 67 appointments over 75 months before diagnosis. For many patients this diagnostic odyssey is much longer.

That is why Genomics England was founded—to use the power of genomics to do better. Our aim is to change the fundamentals of healthcare delivery. We want to create a virtuous cycle by making genomics routine in the NHS and supporting frontier genomic research and discovery, and to continually replenish one of the richest genomic datasets in the world. In doing this we will create a return for participants through better diagnostics and therapeutics; a return for the NHS by boosting productivity and efficiency through stratification, screening and early intervention; and a return for the UK by increasing R&D investment and clinical innovation.

Genomics England now enables the NHS to deliver the world’s first nationwide whole-genome sequencing service for more than 190 clinical conditions across rare diseases and cancers. The service has supported more than 90,000 patients since its launch at the end of 2020 and is scaling fast. We ask patients for a specific consent to use their data for research purposes. Over 95% agree, and their data is stored in the National Genomic Research Library to enable cutting-edge research. The findings of that are then driven back into the clinic to improve NHS care. This means that the Genomics England structure is inherently translational by design; the heart of our mission is to drive long-term, sustainable improvements in the care of our participants and in the NHS as a whole.

We see research and clinical results flowing all the time: research at Great Ormond Street for children with blood cancers found that whole-genome sequencing was proven to provide additional information for diagnosis in 81% of cases, it changed the management of condition in 24% in cases, and it reclassified diagnosis in 14% of cases. Meanwhile, baby Oliver in Cambridge was born with a 6-centimetre tumour on his leg. Under the microscope it looked like an infantile fibrosarcoma and the standard testing was inconclusive, but with whole-genome sequencing it was confirmed as a benign myofibroma. This meant that baby Oliver was spared chemotherapy and surgery and is now happy and healthy.

We know that over the next decade data, analytics and genomics will transform healthcare by enabling personalised medicine. This means more effective and tailored treatments, better diagnostics and predicting disease susceptibility so that we can intervene earlier— possibly even preventing disease altogether. Earlier intervention and more targeted treatment not only improve patient outcomes but reduce the huge healthcare costs of ineffective treatments and side-effects. Multimodal genomic data that we are building now have the potential to cut the costs of drug development and improve population health management.

That is why at Genomics England we have launched three programmes designed to push the envelope of genomic medicine further into the clinic. We are diversifying the ancestry of genomes to improve equitable outcomes for patients; validating long-read and multimodal cancer technologies to drive earlier and more accurate diagnostics for cancer patients; and our Generation Study, a newborn screening pilot, is designed to end the diagnostic odyssey where it starts and explore options for supporting genomic-enabled prevention. The potential of genomics is immense, but to fully harness its power we must continue to invest in research, infrastructure and education to realise its full potential and truly make the NHS sustainable.