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It is always a pleasure to serve under your chairmanship, Mr Hollobone. I start by congratulating my hon. Friend Mark Pawsey on securing this important debate on the need to raise awareness of alpha-1 antitrypsin deficiency disease. I was unaware of the condition until I heard about the debate, and it has been enlightening to learn about it and the number of people it affects in this country. He set out, with great clarity and passion, the concerns of alpha-1 patients across the country.
With up to 8,000 rare diseases identified so far—a number that steadily grows as our diagnostic tools improve—the Government remain dedicated to improving the lives of all those living with a rare condition and to implementing the 51 commitments of the UK strategy for rare diseases, which was reinforced in the Prime Minister’s speech in June, in which she set out her future vision. That vision will be underpinned by increased funding for the NHS, so that the UK can lead the world in the use of data and technology to prevent, and not just treat, illness; to diagnose conditions before symptoms occur; and, importantly, to deliver personalised treatment informed not only by a general understanding of disease but by our own data, including our own genetic make-ups.
As we have heard from hon. Members, people with alpha-1 have low levels of the protective enzyme alpha1-proteinase inhibitor. That means that they are more vulnerable to body tissue damage from infections and environmental toxins—tobacco smoke, in particular. As my hon. Friend the Member for Rugby said, there is no cure for alpha-1, and treatment is focused on alleviating the symptoms.
My hon. Friend referred to the ongoing highly specialised technology evaluation by NICE of the drug Respreeza. That is a type of therapy called replacement therapy. It aims to boost the levels of alpha-1 antitrypsin in the blood. As those in the Chamber will know, NICE is an independent body and its highly specialised technologies evaluation committee makes recommendations on the use of new and existing highly specialised medicines and treatments within the NHS in England.
I am confident that NICE has in place a robust framework for evaluating technologies for rare diseases. As was said, it has not yet published its final guidance on the use of Respreeza for treating emphysema in patients with alpha-1, but it recently consulted on its draft guidance. As we heard, NICE’s evaluation committee is due to meet again to consider its recommendations in March 2019. That is to enable the company that makes Respreeza to prepare and submit additional information for the committee to consider. I am assured that, in developing its final recommendations, NICE will take fully into account all the comments that it received in response to the consultation, along with any additional information provided by the company. We look forward to hearing NICE’s recommendations after consideration has concluded.
As my hon. Friend and Matt Western mentioned, Ministers agreed with the advice of the prescribed specialised services advisory group that services for people diagnosed with alpha-1 should be nationally commissioned by NHS England and not by clinical commissioning groups. May I reassure my hon. Friend and the hon. Gentleman that NHS England is engaging with NICE on the HST evaluation of Respreeza? Once final guidance is received, following the evaluation committee’s meeting scheduled for March next year, NHS England will consider the commissioning implications in consultation with the specialised respiratory clinical reference group.
Should Respreeza be recommended by NICE, it would be for NHS England to make funding available within 90 calendar days of the positive evaluation. Should that be the case, NHS England would want to be assured that the centres initiating the treatment had the appropriate expertise and resources in place. NHS England is committed to involving patients in the development of new services, and routinely does so in line with the specialised commissioning framework, and with dedicated working groups that inform service specification and have patient representation.
As my hon. Friend said, alpha-1 is often undiagnosed or misdiagnosed. It is sometimes diagnosed late, as in the case of his constituent, Mr Leadbetter. More can be done to diagnose rare conditions earlier. Whole genome sequencing is increasingly utilised as a diagnostic tool for rare diseases in individuals with unrecognised signs and symptoms. I am pleased to report that about 25% of rare disease patients who have their genome sequenced through the 100,000 Genomes Project now receive a diagnosis for the first time.
The genomic medicine service was launched by my right hon. Friend the Secretary of State for Health and Social Care on
Let me refer to one or two of the comments from hon. Members. Jim Shannon talked about the prevention of disease and clinical trials having taken place. Improving the lives of people with alpha-1 through research is critical. We support continued research into rare diseases through the National Institute for Health Research. That has established 20 biomedical research centres that develop new treatments for patients with a range of rare diseases.
Tonia Antoniazzi referred to a UK-wide campaign to raise awareness of this condition. I fully agree with her and support the notion that we should always be working together to raise awareness of alpha-1. Many of our initiatives are aimed at raising awareness of rare diseases among healthcare professionals and the general public; it must be extremely difficult for a GP to have knowledge of, spot the symptoms of, and recognise up to 8,000 rare diseases. Health Education England and Genomics England have produced a range of educational materials about rare diseases aimed at those very people—healthcare professionals, including GPs, as the first point of contact in the NHS. Information about rare diseases is also provided for patients and their families.
Let me refer to some of the remarks made by my hon. Friend the Member for Rugby. He talked about allowing patients to be closely involved at all stages of the development and implementation of the service that we are discussing. NHS England routinely involves patients in the development of new services, in line with the specialised commissioning framework, and there are dedicated working groups that inform service specification development. My hon. Friend talked about a review to reflect the impact that the changes to the NICE HST guidelines have had on patient access. NICE’s methods and processes for assessing drugs have been carefully developed over time and are internationally respected. It continues to keep its procedures under review. That includes extensive engagement with patient groups.