Rare Retinal Disease

Debate between Karin Smyth and Siobhain McDonagh

Thursday 23rd January 2025 Westminster Hall

[The Minister for Secondary Care (Karin Smyth)]

It is a pleasure to serve under your chairmanship, Dame Siobhan. I start by thanking the hon. Member for Strangford (Jim Shannon) for securing this debate on such an important issue and other Members for their contributions.

Both the shadow Secretary of State and I are covering for other colleagues this afternoon, so hon. Members can imagine my joy when actual experts walked into the Chamber. The hon. Members for Leicester South (Shockat Adam) and for Torbay (Steve Darling), as has been said, bring great personal and professional expertise to this debate, so it was joyful to see them come in. It was good to hear from my hon. Friend the Member for Doncaster East and the Isle of Axholme (Lee Pitcher); the experience he brings through his wife is really valuable. My hon. Friend the Member for Battersea (Marsha De Cordova) has been such a champion of this issue both in her personal experience and since she came to the House. I understand that it is her birthday today, so I hope she is having a good time. She has brought great expertise to this place.

I am going to do my best to answer the questions. I have been billed highly by the hon. Member for Strangford, and I am grateful for that. The Under-Secretary of State for Health and Social Care, my hon. Friend the Member for Gorton and Denton (Andrew Gwynne), will write to hon. Members about anything that is outstanding.

I would like to take time to acknowledge the experiences of those living with rare inherited retinal diseases and their families, who I know will be paying attention to this debate. I pay tribute to all those who work tirelessly to raise awareness of rare conditions and bring about change. Although rare diseases are rare individually, their impacts are far-reaching. One in 17 people will be affected by a rare condition over their lifetime; that is around 3.5 million people in the United Kingdom. As the hon. Member for Strangford said, rare inherited retinal diseases affect around 25,000 people in the UK and collectively represent a leading cause of sight loss in working-age adults. We recognise the impact that these conditions have on patients, families and wider society and the need for innovative approaches to tackle these changes.

The Government are committed to improving the lives of people with rare conditions. The hon. Member for Torbay used that quote about providing opportunity, support and determination for people. The UK rare diseases framework outlines four priorities to achieve this aim: helping patients get a final diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better co-ordination of care; and improving access to specialist care treatment and drugs. In England, our annual rare diseases action plan sets out the steps we are taking to meet those priorities. We continue to make progress and are working to finalise our next England action plan for publication this year.

It is vital that NHS patients with rare diseases are able to access innovative new treatments as they become available. That includes those with progressive retinal diseases, where early intervention is crucial to preserve sight. Under England’s action plans, NICE, the Medicines and Healthcare products Regulatory Agency and NHS England are working to understand and address the barriers to access for rare diseases treatment. The hon. Member for Strangford asked a number of questions about NICE’s approach that I hope I will cover. NICE does a difficult job well, in my view, and we think its approach is appropriate for the evaluation of treatments for rare diseases. NICE recommended 84% of medicines for rare diseases evaluated through its standard technology appraisal programme in 2023-24. That is comparable to its approval rate for medicines for more common conditions. Those treatments are now available for the treatment of NHS patients.

NICE also operates a separate, highly specialised technology programme for the evaluation of a handful of medicines for very rare diseases each year that recognises the challenges of bringing treatments for very rare diseases to market. NICE recommended the gene therapy Luxturna for a type of inherited retinal dystrophy through that route. One of the recipients of that groundbreaking therapy on the NHS has spoken of his gratitude for the positive effects of the treatment on not just his vision, but his confidence and independence.

NICE is also in the process of reviewing the criteria for routing topics to its highly specialised technologies programme, which the hon. Member for Strangford asked about. That review will ensure that future routing decisions are more transparent, consistent, efficient and predictable. As part of that process, NICE has launched a public consultation on its progress. I encourage the rare diseases community and hon. Members interested to continue to engage with that process.

Research offers a way to accelerate access to new and innovative treatments. Through the National Institute for Health and Care Research, the Government support rare diseases research. There are currently eight active research projects on rare retinal disease funded by the NIHR, with a combined value of over £6 million. The NIHR also invests in infrastructure to support and deliver research studies. The NIHR Moorfields Biomedical Research Centre, which is dedicated solely to vision research, has made significant strides in the field of rare retinal diseases. By harnessing genomic data, the BRC has developed effective treatments, including gene-replacement therapies for inherited retinal disorders. The NIHR is also working closely with commercial companies to bring new medicines and technology to patients.

To connect people living with rare diseases to innovative treatments and sources of support, we need to diagnose these conditions as early as possible. The UK is a world leader in genomic diagnosis. Patients in England have access to whole genome sequencing on the NHS. Advances in genomics mean that new causes of rare retinal diseases are being found every year. As part of Genomics England’s generation study, we are harnessing the power of genomic sequencing to screen for over 200 rare genetic conditions that can be treated in the NHS in early childhood to improve outcomes for babies and their families. That includes the rare retinal disease RPE65-associated Leber congenital amaurosis, which can be treated with Luxturna.

A central mission of this Government is to build a health and care system fit for the future. The 10-year health plan will ensure a better health service for everyone, regardless of condition or service area. The plan will focus on our three shifts for a modern NHS: moving from hospital to community, analogue to digital and sickness to prevention. All three offer opportunities to improve time to diagnosis and care for people living with rare retinal conditions. The shift from analogue to digital will enable innovative uses of data to improve diagnosis and measure treatment outcomes, while NHS ocular genetics services’ use of video consultations continues to widen patient access to specialist advice, in keeping with the shift from hospital to community. Although many rare diseases are not preventable, early diagnosis, as we have heard, can lead to timely interventions that improve health outcomes.

I will outline the treatment pathway for rare retinal diseases. I am thankful for the role played by high street optometrists, some of them here today, in helping to identify patients with sight-threatening conditions. There is good availability of NHS sight-testing services, with over 12 million free NHS sight tests provided to eligible groups annually, including children, individuals aged 60 and over, and those on income-related benefits. Optometrists are required to refer any patient showing signs of injury, disease or abnormality and integrated care boards have been asked to ensure that there are direct referral pathways in place between community optometry and secondary care. As the hon. Member for Leicester South said, the eyes are the gateway into other health conditions. Optometry has a very important role.

As one of the busiest outpatient specialties with one of the largest waiting lists, we know that ophthalmology is facing huge challenges and we are working hard on how we can help to build capacity. NHS England is looking at how digital connectivity could improve the triage of patients referred between primary and secondary care. That would allow for images to be shared, and specialist advice and guidance could help to keep patients in the community where possible.

We recognise the importance of access to emotional and practical support, especially where treatment may not be available. A diagnosis of sight loss will have a profound impact on any individual, who will be at increased risk of stress, anxiety and depression. NHS England’s patient support toolkit for eye care commissioners and providers aims to ensure that patients with ophthalmic conditions or sight loss are supported throughout their care journeys. The RNIB patient support pathway aims to strengthen that and ensure that support and guidance are available to patients from their first eye care appointment through to having a confirmed diagnosis, and then right the way through to living well with their condition. I know that the work of the all-party parliamentary group on eye health and visual impairment and of other hon. Members will help in giving those people a powerful voice.

As we work towards building a health care service fit for the future, it is vital that people living with rare diseases are not left behind. With the UK rare diseases framework coming to an end in 2026, we will look to build on the progress made over the past five years, which the shadow Secretary of State mentioned. We will work with colleagues in the devolved Administrations, as highlighted by the hon. Member for Strangford.

We have commissioned an evaluation of England’s rare diseases action plans through NIHR and will also be undertaking engagement this year to inform future policy decisions. The Government are deeply committed to working across the health and social care system and with the rare diseases community to improve the lives of those with rare conditions.

Once again, I thank the hon. Member for Strangford for raising this important matter. It is good to have high interest, expertise and experience in this place. We want to work with colleagues here and we thank the rare disease community for their valuable ongoing engagement with us to bring about meaningful change.

[Dame Siobhain McDonagh (in the Chair)]

Order. I will now put—[Interruption.]