UK Rare Diseases Framework

Part of the debate – in Westminster Hall at 4:51 pm on 24th March 2021.

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Photo of Liz Twist Liz Twist Opposition Whip (Commons) 4:51 pm, 24th March 2021

I beg to move,

That this House
has considered the implementation of the UK Rare Diseases Framework.

It is a pleasure to serve under you in the Chair, Mrs Miller. About one in 17 people will during their lifetime be affected by a rare condition. Around 70% of such conditions begin in childhood and are lifelong. Genetic Alliance UK estimates that rare diseases are responsible for about one third of infant mortality in the UK. Those living with a rare condition can face significant challenges in getting a diagnosis, getting access to treatment, and receiving co-ordinated care, as well as challenges with employment, education, social life and mental health.

The UK rare diseases framework, which was published earlier this year, presents an opportunity for the rare diseases community. There is hope that the framework will enable people living with rare, genetic and undiagnosed conditions to get access to the appropriate care and the treatment that they need to manage their condition. However, we have been here before. In 2013 the UK strategy for rare diseases was published, with the promise that no one would be left behind just because they have a rare disease. When the strategy expired last year, people living with rare conditions were confused and disappointed. Although the strategy had made some progress, it had failed in its commitment to transform the lives of all those affected by rare conditions.

A major factor that prevented the true potential of the strategy from being realised is the long delay from the Department of Health and Social Care or NHS England in developing and publishing an implementation plan. The strategy was published in 2013, yet an implementation plan for England was delivered only in 2018. Not only did that prevent progress in England; it also stymied developments in the devolved nations, which were unable to collaborate effectively without a plan. As yet, the Department of Health and Social Care and NHS England have not published the outcome of the strategy. If we are to learn from the mistakes of the past, we must evaluate what happened with the strategy. Will the Minister comment on whether the Department of Health and Social Care and NHS England will in fact report on the outcome of the strategy?

The UK rare diseases framework is the beginning of a new chapter. For it to be implemented effectively, the Department of Health and Social Care and NHS England must work together to deliver a timely and comprehensive action plan. That action plan is needed now more than ever because the rare diseases community has been waiting long enough for improvements in care and treatment. The pandemic continues to bear heavily on the health and wellbeing of those with rare conditions, who are among the most vulnerable to covid-19 impacts. There is a gap in detailed policy to drive improvements for people living with rare conditions in the UK, until action plans are published to implement the framework.

The framework covers four key areas and seeks to make progress. The first priority is to help patients to get a final diagnosis more quickly. On average, rare disease patients wait four years to receive a diagnosis, with some waiting over 20 years. For people with a rare condition, it is often a long journey, frequently with several misdiagnoses, until a final correct diagnosis is reached. Often this journey is labelled as the diagnostic odyssey. The framework describes what is already happening to improve diagnosis, but it does not talk about improving the screening service for people living with rare conditions. The UK National Screening Committee currently screens for just nine conditions using the heel-prick test. That compares poorly with many European countries: Italy and Iceland screen for more than 40, Poland and the Netherlands screen for more than 30, and Hungary, Slovakia and many others screen for more than 20 conditions.

Earlier this month, the National Institute for Health and Care Excellence approved access to a new gene therapy for spinal muscular atrophy. NICE said that for some babies who are diagnosed before they have symptoms, it might come close to being a cure. For it to have the chance to be a cure, however, we need to identify the babies before they begin to be affected by the condition. To do that, we need newborn screening for spinal muscular atrophy. We need joined-up thinking that allows a screening programme to be developed in parallel as such medicines come over the horizon. Will the Minister confirm whether we will increase the scope of newborn screening in the UK or make changes to the UK National Screening Committee’s processes?

The framework also talks about Genome UK and the NHS genomic medicine service helping patients to get a final diagnosis more quickly, but it does not talk about how patients will access such services. The framework recognises that people with non-genetic conditions needs to be diagnosed through other means. We will need an action plan that sets out a realistic way to improve this, and we will need to demonstrate that the system becomes better at diagnosing everyone, not just those who are found through genome sequencing. Can the Minister confirm that that will be done?

Moreover, the framework does not talk about what happens after a diagnosis is delivered. We cannot abandon people after we have given them their diagnosis. My final point on diagnosis is this: what about the people who are stuck on the diagnostic odyssey? Do we know how many people have been waiting for five, 10 or 20 years for a diagnosis from the NHS? Will we track such people? Will we monitor whether everyone is receiving equitably the tests to which they are entitled? Will the Minister please comment on that?

The second priority of the framework is to increase awareness among healthcare professionals of rare diseases. People affected by rare conditions meet many healthcare professionals on their journey to find a diagnosis, and beyond while they live with their rare condition. For some it is a positive experience; for others it can be particularly challenging. This year, Genetic Alliance UK received an inquiry from an individual whose GP had told them that they could not possibly have the genetic condition that they were concerned about, because it is just too rare. Any individual clinician cannot be expected to know about all rare conditions, but they can be empowered to understand how to handle such cases. The framework does not address in detail how it will increase awareness among healthcare professionals of rare diseases. It does not provide details of how education programmes will be delivered, nor does it explain in detail how success will be measured. What measurements will be put in place to ensure learning for healthcare professionals in the NHS? Will there be a survey of experience now and in the future, to demonstrate improvement? Will that be included in the English action plan?

When clinicians do not engage with an individual who has a rare condition in order to understand their diagnosis and ensure that care is compatible with their needs, it can and has led to life-threatening situations. One way to prevent such situations from occurring is by providing rare disease patients with alert cards, which include information about the patient’s rare disease and any particular aspects of the treatment of that rare disease that need to be taken into account in providing care. In January 2018, NHS England promised that all rare disease patients in England would have access to a rare disease alert card. May I request an update from the Minister on alert cards specifically? How many rare disease patients have been issued with an alert card?

The third priority of the framework is to improve co-ordination of care. Many patients have numerous professionals involved in their care and therefore it is essential that there be co-ordination and communication among healthcare professionals, their patient and the family. The framework does not address how care co-ordination can be mainstreamed within rare condition care in the NHS. There are no details as to how the challenges of ensuring continuity of care during the complex transition between rare condition services might be addressed. Again, how will success be measured? Will there be outcome measures demonstrating increased care co-ordination services in the NHS, and will there be a survey now and in the future to demonstrate improvement in the experience of people living with rare and genetic conditions?

The final priority of the framework is to improve access to specialist care, treatment and drugs. Only about 200 medicines are specifically available for rare conditions, and fewer than that are available on the NHS now. Small patient populations and accelerated market authorisation mean that rare disease medicines can rarely have sufficient evidence to meet the expectations of health technology assessors in the UK. Few life-saving treatments are reaching rare disease patients, which means not only that the UK is falling behind other European nations in terms of treatments available, but that patients and their families can be left in the dark, unsure of what is next.

We have extremely frustrating situations such as that faced by families affected by phenylketonuria, who, 12 years after marketing authorisation for the drug, are not receiving access to Kuvan, despite the Prime Minister’s promises to work on the issue and the treatment being available in 24 European countries. Again, the framework does not talk about how success will be measured. Will there be outcome measures demonstrating increased access to specialist care, treatments and medicines, and will there be a survey now? Will the Minister comment on that?

My final point is this. Understanding the experiences and preferences of people affected by rare conditions is fundamental to providing care and treatment and to ensuring that support, information and services are available and targeted to meet needs. The national conversation on rare diseases on which the UK rare diseases framework is based does not reflect the whole rare disease community. It is important that the English action plan is created in consultation with a more diverse and inclusive group, so that we can understand and meet the needs of all those affected by rare, genetic and undiagnosed conditions.

I want to finish by talking about something that happened yesterday. I want to mention Norman Clayton, who watched Prime Minister’s questions last week and heard me ask my question on access to Kuvan for those with PKU. Norman is 91 years old and was moved, after all these years, to contact NSPKU—the National Society for Phenylketonuria—and tell us about his daughter, Denise, who was born in 1958, before newborn screening, and whose PKU was diagnosed late. Despite the best efforts of Norman and his wife, Denise’s development suffered and she disappeared off the radar of the NHS. She still requires a huge amount of care, because her condition was not recognised from birth. That story speaks to so many rare diseases and to the need to get the implementation of this framework right.