Pseudoxanthoma Elasticum

Norman Lamb Excerpts

Thursday 18th October 2012 Commons Chamber

[The Minister of State, Department of Health (Norman Lamb)]

I congratulate my hon. Friend the Member for Enfield North (Nick de Bois) on securing the debate. He told the House that his wife had been diagnosed with PXE, and I am sure that this is a matter of great personal concern to him. I am grateful to him for engaging with me and the Department before the debate. I am keen to ensure that we maintain a continuing discussion on this matter. We cannot answer all the questions in the debate today, and we cannot change the whole system or the way in which the NHS operates, but let us discuss the genuine problem that has been highlighted today.

I should also like to acknowledge the contribution from my hon. Friend the Member for Burton (Andrew Griffiths), who spoke movingly about his constituent’s situation. He drew our attention to the fact that, while losing one’s sight is a critical matter for an individual, the cost to society and to the Government demonstrates powerfully the case for treatment in those circumstances. I also want to pay tribute to Elspeth Lax for her tireless work. We owe people like her, and the support groups that offer support to hundreds of patients with many different conditions, an enormous debt of gratitude.

I completely take on board the importance of fast access to treatment. It is critical. Indeed, the NHS constitution makes the point that citizens have a right to a speedy decision, without delay. People need to exercise their rights under the constitution in cases such as these.

[Nick de Bois]

It is worth highlighting that, because of the shortcomings, many people suffering from this condition have resorted to paying for their drugs themselves privately, such is the urgency of their situation.

[Norman Lamb]

I completely understand that. The debate has focused on the effects of the condition on the eye, and these matters are of considerable concern to people with PXE.

There are no licensed eye treatments for PXE. People with PXE should be advised on healthy lifestyle measures, such as stopping smoking, adopting a healthy diet and taking physical exercise, to reduce the risk of complications. They should also be monitored regularly by a health care professional. As it is a genetic condition, patients who are considering having children should receive genetic counselling, and first-degree relatives should be screened. Because of the similarities between age-related macular degeneration and PXE in the eye, some clinicians may consider using treatments that are effective in AMD, including laser treatment and the drugs Avastin and Lucentis, which have already been mentioned. My understanding, however, is that PXE has a different cause and a different process, and patients with PXE might not respond to those treatments in exactly the same way.

Lucentis is considered by some clinicians to be effective in treating people whose eyes have been affected by PXE. I have also mentioned Avastin, but neither Lucentis nor Avastin are licensed by their manufacturer for use in the treatment of patients with PXE. The National Institute for Health and Clinical Excellence has appraised or is currently appraising the use of Lucentis in the treatment of other eye conditions such as wet age-related macular degeneration and other conditions—diabetic macular oedema and retinal vein occlusion, for example—but Lucentis is currently recommended in NICE technology appraisal guidance only as a treatment for wet AMD, subject to certain criteria.

Clinicians may prescribe any treatment, including an unlicensed treatment or a product not licensed for a particular condition, where they consider it to be the best available medicine to meet the clinical needs of their patients—it is for the judgment of the clinician—subject to their primary care organisation agreeing to fund the treatment. Primary care organisations, too, are legally obliged to provide funding so that treatments that have been positively appraised by NICE are available on the NHS. In the absence of relevant NICE guidance, these primary care organisations are responsible for making funding decisions based on an assessment of available evidence and on the basis of an individual patient’s circumstances.

Where a decision is taken not to fund a treatment, primary care organisations must have a process to allow for the possibility that an individual may have exceptional circumstances—I absolutely take the point that loss of sight needs to be taken very seriously into consideration—which justify access to treatment that is not available to the rest of the population. If doctors feel that there are exceptional clinical circumstances, they can request treatments that are not usually funded on behalf of their patients through an individual funding request. I recognise, as I have said, that time can be of the essence in these cases. In this situation, a special panel that includes clinicians would carefully consider individual cases against the latest medical evidence and decide whether the treatment could be approved.

Under the NHS constitution, patients have the right to expect local decisions about the funding of medicines and treatments to be made rationally and without delay following a proper consideration of the evidence. If new evidence arises to support the use of a treatment or if an individual’s clinical circumstances change, a new individual funding request can be made. To help organisations make these difficult decisions, the Department has issued a set of core principles, and primary care organisations are required to have in place clear and transparent arrangements for local decision making on funding of drugs and for considering exceptional funding requests.

I shall deal now with the general issue of the commissioning of services for people with rare conditions. This Government are committed to providing the best quality of care for people with rare conditions. When we took office in 2010, we endorsed the right in the NHS constitution that says no one should be left behind just because of the rarity of their condition. Lack of awareness is, of course, often a real problem. The importance we attach to services for people with rare conditions has been clearly demonstrated in the reforms set out in the Health and Social Care Act 2012, which my hon. Friend the Member for Enfield North was active in supporting during its passage through Parliament. As a result, specialised and highly specialised services, which are currently commissioned at both a national and regional level through a range of NHS organisations, will be brought together under one roof. From April 2013, the new NHS Commissioning Board will directly commission services for people with rare diseases on a national basis. The board will have a clear focus on specialised services organised around programmes of care. These new arrangements for the commissioning of specialised services provide a unique opportunity to do things more effectively and smarter than in the past, and will bring real benefits to patients with rare conditions, including to patients with PXE.

Moving to a national standard system of commissioning while maintaining a local focus managed through the board’s four regions and the local area teams will provide the geographic and speciality oversight that is needed for these services. The commissioning board will set out a detailed service specification for each of the services that it will commission directly. That will link national service knowledge and expertise with local contract knowledge of providers and pathways of care, cementing the new system together in the interests of patients. The benefits to patients with rare conditions are clear: a single national commissioning policy and better planning and co-ordination will result in improved consistency around the country.

The Government are also committed to increasing awareness—which I mentioned earlier—of very rare conditions such as PXE. That commitment has been demonstrated through the UK’s involvement in the development of the UK plan for rare diseases. We shared our views on the proposed plan earlier this year, launching our consultation on 29 February, rare disease day. The consultation document was produced jointly by the four nations of the United Kingdom, and the consultation closed on 25 May.

The consultation responses will inform the UK plan, which is being developed in response to the 2009 European Council recommendation on rare diseases. That recommendation, which was supported by the UK, asked every member state to develop a national plan or strategy for rare diseases by the end of 2013. My officials are currently working through all the consultation responses—there were more than 350, which demonstrates the level of interest—and are writing a summary of the responses. They expect to publish it later in the autumn, with the final plan being published next year.

This is the first time that the UK has developed a plan to tackle rare diseases. The plan will bring together a number of recommendations designed to improve the co-ordination of care and to lead to better outcomes for everyone with a rare disease, including people with PXE. However, a plan in isolation is clearly not enough. This plan will need buy-in from everyone in the system. With that in mind, my officials have been working closely with the newly formed NHS Commissioning Board to ensure that the plan has traction within the system, so that people know about it and understand its power.

In comparison with some other member states, the UK already has good systems for supporting and treating people with rare diseases through the provision of specialised services, but that does not mean that we cannot do better. For example, more co-ordinated care saves patients time, money and stress by avoiding the need for multiple visits to various clinics and hospitals, which has too often been people’s experience in the past. We are also considering how rare diseases can be better represented in training curricula. That is critical to raising the level of knowledge and capacity in the system.

People with rare diseases are likely to come into contact with professionals from a range of disciplines: from GPs through geneticists and researchers to nurses, surgeons, mental health teams and social care workers. It is for that reason that the UK plan for rare diseases will be targeted at the whole of the health and social care sectors. The final plan will set out a coherent and joined-up approach to tackling rare diseases. It will acknowledge existing developments, such as the contribution that expert centres can make to better diagnosis and treatment of rare diseases, while proposing a number of further developments, such as better information for patients so that they can be fully engaged and helped to understand and manage their conditions.

The plan will include recommendations, actions and examples of best practice for commissioners of specialised services, royal colleges, providers of information, and staff on the ground who deliver care to people with rare diseases. It will recognise that each nation of the UK has different health care systems, and it will be for each nation to implement it in accordance with its own priorities and patterns of service. In England, much of the implementation of the final plan will be for the new commissioning board in its role as a single national commissioner of specialised and highly specialised services.

I am grateful to my hon. Friends for raising this important issue. The value of a debate such as this is that it forces Ministers to focus on rare diseases to which we might not have devoted time otherwise. I shall be happy to continue to engage with the issue to ensure that patients with PXE are given the treatment and care that they deserve.

Question put and agreed to.