UK Rare Diseases Framework

Part of the debate – in Westminster Hall at 5:43 pm on 24th March 2021.

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Photo of Nadine Dorries Nadine Dorries Minister of State (Department of Health and Social Care) 5:43 pm, 24th March 2021

It is a pleasure to serve under your chairmanship, Mrs Miller. I am afraid that I have been asked a huge number of questions. The shadow Minister just said he hoped I could answer them, but I am afraid that is not going to be possible. However, I will write to Liz Twist and answer her questions in detail. I congratulate her on securing this important debate. I think someone described her as a doughty campaigner, and I pay tribute to her tireless work championing the rare disease community as chair of the all-party parliamentary group on rare, genetic and undiagnosed conditions. I will try to answer a few of the points in the short time that I have and I will write on the rest.

First, I will answer a more general point. Many hon. Members brought up the drug Kuvan, which is indicated to reduce blood phenylalanine levels in patients with phenylketonuria. PKU is an inherited metabolic disorder. NICE published draft guidance on 25 February recommending Kuvan for people with PKU who are under 18. Hon. Members have quite rightly acknowledged that when children and young people reach the age of 18, that is a problematic step.

NICE’s draft guidance is a huge step forward for children who stand to benefit from Kuvan as a treatment, but I understand that it will be disappointing for adults. It is important to stress that this is not the final guidance. NICE will carefully consider all comments received during the recent consultation. The Government encourage the company to continue working with NICE, NHS England and NHS Improvement to ensure that Kuvan is priced affordably, so that more patients may benefit. That is a sort of round-robin answer to a number of the questions that have been asked.

I would like to pick up the first question that the hon. Member for Blaydon asked about the report to be published on the outcomes of the UK strategy for rare diseases. We have published yearly updates on the UK strategy for rare diseases implementation plan. Those updates highlight areas of progress and ongoing action against the commitments described in the strategy. The Department is constantly engaging stakeholders to learn what has worked in the strategy and the implementation plan.

We are constantly engaging and looking for areas of improvement, and we took the learnings into consideration when we developed the UK rare diseases framework. The framework builds on the previous strategy, outlining clear, concise and actionable priorities that were developed in close collaboration with the rare diseases community, including patients themselves.

The shadow Minister asked about screening newborns in the UK. As part of our screening improvement programme, the Department is considering how better to integrate targeted screening of high-risk groups in our population-based screening programmes. The chief medical officers of the UK have established a screening advisory working group to consider the scope and remit of the single screening advisory body proposed by Professor Sir Mike Richard. We have committed to making better use of technology to develop a more personalised screening offer, including important genetic testing, inter-screening and diagnostics. In the 2019 report, “Generation genome and the opportunities for screening programmes”, the UK National Screening Committee concluded that there is “clear potential” for genomics in the testing for many of the conditions currently included in the blood spot test. I think that all of us here today would agree on one fact: screening and medical science are moving forward at a rapid pace.

Only last month, we marked Rare Diseases Day. We have heard many touching stories today from Members, but last month we also heard many touching stories and how rare diseases, including PKU, can have an impact on patients and on their family members. As many Members of this House know, while rare diseases are individually rare, they are collectively common: one in 17 people is affected by rare disease at some point in their lifetime. In the UK, that amounts to more than 3.5 million, which is a significant group of people.

I am sure that the hon. Member for Blaydon would like to respond to the debate, so I will end. We will write to her with detailed responses to her thoughtful and detailed questions. I hope she will be able to share that information with the rest of the people who have spoken.