Rare Disease Day 2024: harnessing genomic medicine and cutting-edge treatments to improve outcomes for patients with rare conditions

This year, Rare Diseases Day falls on 29 February, the rarest day in the calendar, and presents an opportunity to raise awareness of the more than 7,000 conditions that affect over 3.5 million people in the UK.

Here at NHS England, we are working to provide the most effective diagnosis and treatment services for patients with rare conditions. Teams across specialised commissioning, genomics, medicines, and health inequalities are all working together to ensure the NHS in England is set up to provide the same level of care for people in the rare disease community as those with more common conditions. The England rare diseases action plan, published today, highlights the steps NHS England will be taking to ensure this is the case.

With roughly 8 in 10 rare conditions caused by a change in a person’s genetic code, genomic medicine in the NHS can play a critical role in supporting and managing patients. By harnessing the power of genomics, individuals with rare diseases can be provided with an often earlier and more precise diagnosis, for some conditions, when compared with traditional diagnostic pathways and assessing symptoms only. Our work to implement genetic testing as part of clinical pathways can end years of uncertainty for patients living with a rare disease and allow clinicians to provide personalised and targeted treatment and interventions.

We know the toll searching for answers, what we call the diagnostic odyssey, can take on patients and their loved ones, so within the NHS Genomic Medicine Service we are committed to embedding transformative genetic testing into routine clinical pathways across multiple clinical specialities and speeding up access to treatment.

With more than 3200 rare diseases tested for, as outlined in our NHS genomic test directory, we are continuing to roll-out world-first and innovative testing services to our patients, including the national Whole Genome Sequencing Service for acutely unwell babies and children. Operating from the South West Genomic Laboratory Hub, the service provides clinicians caring for more than 1,000 babies and children across the country with the support needed to make a crucial genomically-informed diagnosis at what is an incredibly challenging time for babies and children and their families.

NHS England is not only expanding the range of rare diseases we test for but also adopting and utilising cutting-edge technologies like long-read whole genome sequencing, which examines our entire genetic code in a different way to the current short-read whole genome sequencing approach, and transcriptomics and proteomics, which study how genes present themselves and how proteins are made. These new techniques allow us to provide more precise interventions and treatments for patients.

We have recently funded an NHS Genomic Network of Excellence for Rare and Inherited Diseases. Building on the work of the Exeter laboratory and looking at introducing scientific and technological advances into the testing for patients with rare diseases, the network is focusing on new working models to improve diagnosis times, reduce genomic health inequalities, roll-out innovative testing approaches, and increase overall efficiency – with the aim of providing patients with rare diseases a fast and accurate diagnosis.

One example where NHS England has made significant progress in improving outcomes for patients with inherited rare conditions, is for those born with the muscle-wasting disease spinal muscular atrophy (SMA). We are now implementing genetic testing to allow more patients to access curative and transformative treatments.

Since 2019, there have been 3 transformative medicines approved for the condition in the NHS, all of which require confirmatory genetic testing before initiating treatment. As a result, nearly three quarters (73%) of children with SMA1 in the UK are now older than two years, according to data from the national SMA Research and Clinical Hub (SMA REACH UK) database. Landmark commercial deals to secure access to these 3 new treatments will ensure the future looks brighter for those infants affected by the condition.

As well as bringing new treatments to patients, another way the NHS in England has improved services for patients is through enhanced access to expert teams and increased virtual support. Last year, we launched a new service for patients with inherited white matter disorders (IWMDs), also known as leukodystrophies, doing exactly that. The new service enables faster diagnosis for patients and therefore allows clinicians to support symptom management more quickly, providing patients and their families with a better quality of life. The service was developed in collaboration with patients, with input from charities including Alex, The Leukodystrophy Charity, ensuring patients were at the forefront of service design.

Image of Albie, who was diagnosed with an IWMD when he was only a few months oldFor parents Matt and Stacey King in Suffolk, being put in contact with the new service immediately gave them access to the support they needed for their son Albie, who was diagnosed with an IWMD when he was only a few months old.

After being referred to the new service, they were immediately linked in with speech and language therapists, physiotherapists, a dietician and a visual impairment team for Albie. Having access to a team of experts also helped reassure Matt and Stacey, giving them the opportunity to have all their questions answered and make sure Albie was receiving the right care every step of the way.

The IWMD service is a pioneering rare disease service, fully embracing a future-facing model of care with an increased level of virtual support, enabling people to get the care they need, no matter where they live. NHS England has produced guidance for virtual clinics supporting patients with rare and complex and multi-system disorders, which provides acute hospital teams with recommendations for setting up or improving the safety and efficiency of digital/virtual and phone clinics.

Another way that NHS staff can provide enhanced support and improve their knowledge of rare conditions is through the NHS’s Genomics Education Programme’s Rare Disease Education Hub, which has lots of information on the different types of rare diseases and their diagnosis. Staff can also find guidance on making the right genomic decisions at each stage of the clinical pathway through GeNotes developed as part of the NHS England Genomics England Programme, which provides educational information at the point of need, with opportunities for extended learning. ​

​Additionally, there will be a free online course, ‘Genomics in the NHS: A clinician’s guide to genomic testing for rare disease’, starting on 4 March, which staff can sign up for.

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.

Fiona Marley

Fiona Marley heads up the Highly Specialised Commissioning Team in NHS England and has worked for the NHS since 1991 in a number of roles, including in primary care and health improvement.

Fiona’s team commissions over 80 highly specialised services, which are typically delivered in small numbers of expert centres. The portfolio includes a number of transplant services, services for patients with rare cancers and services for patients who have rare diseases. Commissioning services in this way ensures that patients have: excellent clinical outcomes; equitable access to services regardless of where they live; and access to clinical trials. In 2021, Fiona commissioned the service to deliver onasemnogene abeparvovec for Spinal Muscular Atrophy.