New Petitions

Thank you for the opportunity to talk to the committee about access to therapies for rare diseases.I begin by assuring you that we are not here to demand a blank cheque. We realise that health resources are limited and that we need a system that is fair and rational in the allocation of those resources. The national health service is based on an assumption that treatment will be delivered according to need rather than according to the individual’s ability to pay. Patients who have rare diseases are in a situation in which, if a therapy is available for them, it is likely to be expensive because of the small number of people who are affected.People with rare diseases do not choose to have a rare disease. There is no kudos attached to having something that is difficult to diagnose, expensive to treat and about which little might be known. It is a tribute to the success of the European Union’s orphan medicinal products policy that we now see therapies becoming available for diseases that have hitherto been untreatable and have led to prolonged and severe ill health and the loss of quality and quantity of life.Getting a therapy on the market is one thing, but getting it into the patient so that they can benefit from it is another. Many of the orphan drugs—the therapies for rare diseases that we are talking about—are life changing. They move a disease from being rapidly progressive and life limiting to one with which a more normal quantity and quality of life can be expected. The problem in Scotland is that patients are not able systematically to access some of those therapies in the way in which they can elsewhere in the United Kingdom and Europe.Our contention is that the mechanisms that are in place in Scotland, either through the Scottish Medicines Consortium or through the individual patient treatment request system, are not fit for purpose. They are more likely to deny patients access to effective therapies than they are to allow it. If there is a notional ceiling of £30,000 per quality-adjusted life year, and a treatment costs perhaps £100,000 per patient, it does not take a complicated sum to work out that the acceptance box is unlikely to be ticked. In the individual patient treatment request system, the practical need to demonstrate exceptionality with small populations that are all pretty well at the same level of need is not fair, reasonable or doable.Some of the treatments might make a small physical difference to the patient but a huge difference to their quality of life. I know one young woman who has an inborn error of metabolism. She receives enzyme replacement therapy, and her lung function has increased by 4 per cent, which for us is a short intake of breath. For her, it means that she can come off artificial respiration for most of the day and that she can go out of the house and be confident that she is not dependent on a machine that might break down at any minute and leave her stranded. It means that when she kisses her partner and it leaves her gasping, it is the emotion and not asphyxiation that produces the reaction. It means that she can think about having a job for the first time.Many other patients who get the benefit of such life-saving therapies gain similarly from the impact on the quality of their lives, even if the physiological changes that they experience from the therapy are objectively quite small.You can imagine the frustration and anguish that families experience when they see a therapy appear and get licensed and they see it working in families in similar positions but they are denied access to it, not on biologically sound grounds or clinically sound determinations between one patient and another, but on economic grounds. Our contention is that Scotland and Scottish patients are getting a raw deal because the system in place to allow such people access to such a therapy is more likely to deny than approve the opportunity for them to get it.The chairman of the National Institute for Health and Clinical Excellence, Mike Rawlins, once said that sometimes you just have to bite the bullet and pay the cost. Sometimes a lot of money simply has to be spent because that is the measure of our civilisation, care and commitment to meeting the needs of every family and patient through the national health service. However, it is not just about the absolute expenditure of cash on the therapy; the opportunity that is created and the waste of money on ineffective interventions that is avoided need to be factored in.Scotland has taken the lead in providing high-quality NHS services in ways that are often looked to by the rest of the UK and further afield—one need think only of the work of the national services division as a model for many—but, unfortunately, the Scottish system is more likely to say no than yes to access to therapies for rare diseases. Our contention is that the system needs to be looked at to ensure that there is a rational framework that can legitimately distinguish between therapies that will achieve significant changes in patients’ quality or quantity of life and those that will not, and which is based on medical and social needs rather than just the cost of the treatment.

It would be appropriate to ask my two colleagues to comment on those issues.

We have definitely found that some health boards have accepted treatments for patients whereas others have not. We have three patients in Scotland on treatments, but two other patients have been refused them and four applications are pending. Therefore, we have found that there is a postcode lottery.

I work in the Scottish PNH outreach clinic in Monklands, which all Scottish patients with rare diseases can be referred to for access to specialist advice. We give advice to referring haematologists throughout Scotland, including advice on whether we think that the patient should be treated with a therapy, although our recommendation does not automatically mean that the patient will access it. Seven patients are on treatments in Scotland, three patients for whom we recommended treatment have been refused it, and one application is pending. It is difficult to say whether there is definitely a postcode lottery, but things are, of course, very difficult when we recommend a therapy for a patient that is then refused by the health board in whose area the patient resides.

To be honest, I am not sure, but I do not think so. We certainly do not have copies of those policies from all the boards.14:15

We certainly have a policy in Lanarkshire. My understanding is that, in most health boards, if a policy is not in place, one is about to be ratified and will be in place.

The advisory group for national specialist services is a multidisciplinary group, which has been set up to advise the Secretary of State for Health in England on not only medicines but all forms of intervention that come before it for services that affect fewer than 500 patients in England. Those are highly specialised interventions for very small numbers of patients.The system works because it recognises that, in dealing with either very rare conditions or very complicated interventions, the evidence base that you could expect in dealing with a much bigger population is unlikely to exist. You therefore have to make an evaluation and a judgment based on the evidence that you have, in the expectation that you can put further steps in place to evaluate the impact of the intervention as the data is concluded.Among the issues are clinical effectiveness; the scientific rationale for the intervention; the input from different stakeholders, including patients and families, on the impact of the disease or condition on the patient’s quality and quantity of life; the aspects of the disease that will be ameliorated by the proposed treatment; the cost of the intervention; and the cost of other available services. Whether or not patients get the treatment, they will have expectations of services from the NHS.The advisory group—AGNSS, as we know her—makes a recommendation based on a case that has been put to it, usually by a lead clinician with the support of colleagues. The secretary of state is then minded either to accept or not to accept. As you know, proposed changes to the system in England are currently before Parliament but, if the secretary of state retains the power under the new system, he will be able to dictate to the national commissioning board that a service be provided. Otherwise, the case may go to the national commissioning board with a recommendation for provision.That system means that patients can expect a uniform standard of service across England. There may be designated centres that provide the service, as with, for example, the inborn errors of metabolism. In that situation, patients have to go to an expert centre to access the service, which means that the quality of service, the cost implications and so on can be controlled. The system does not require the same volume of evidence as a NICE single technology or multiple technology appraisal, because it reflects the reality of knowledge about the situation and the condition.

Patients in England with the condition are treated in various centres that are overseen by AGNSS. All patients in England with Pompe disease have access to treatment, which is available at the request of the treating consultants. About 90 or so patients in England are being treated, as were the patients in Scotland. However, there are quite a few who cannot access the treatment.

There is already input from the Scottish health department in that regard, as it sits as an observer on AGNSS, so you would not have to reinvent the wheel and carry out an adaptive process in Scotland from scratch. You could take the information from AGNSS and transpose it into a Scottish context in a relatively straightforward manner.

They are from the Scottish Government’s health department.

Most of them tend to come above the £30,000 per QALY limit because they are usually novel therapies that have developed at the edge of research and require innovative technologies to be delivered. They will have been developed with a high investment in research and development. A couple of the ultra-orphan conditions may come under the £30,000 limit, but the majority of them come above that threshold.

The QALY is not an appropriate model to use as a threshold. The rhetoric is that a QALY provides an opportunity for comparing across interventions and diseases. Our problem with the QALY methodology is that it assumes that there is evidence at the point of evaluation or that it is relatively easy to generate the evidence in order to compare apples and oranges or fish and fowl. NICE looked at the possibility of extending the QALY system—its QALY evaluation process—particularly to the ultra-orphan conditions, which are the ones that we are looking at. It said that, although the process was theoretically applicable, the quality and quantity of the data would require such huge assumptions that no conclusions could be confidently based on the outcome of the process.We need to move away from the idea of using a model that is driven by assumptions of health technology appraisal, which can produce hard and objective data about what a particular intervention does or does not do. Instead, we need to broaden the criteria and look at the clinical context, the biological knowledge about the disease and the intervention, such as it is known, the social impact of the condition on families and on patients’ broader confidence that the NHS will be there for them, and the economic cost of doing nothing or carrying out ineffective interventions.

Yes. That is exactly the case. For any one of the ultra-orphan conditions, we are probably talking about between one and a couple of dozen patients throughout Scotland. We need to take such patients outside the mainstream system and find a way of responding to their absolutely legitimate expectation that the NHS is for them as well as for everyone else, without opening the floodgates to expectations that the NHS will provide whatever we want whether or not it works, which is clearly unreasonable.

I am not qualified to talk about the price of the product, which is a matter for negotiation with the company that manufactures it. However, in Scotland there are centres of expertise in the care and management of particular rare diseases. The introduction of the European Union cross-border healthcare directive presents an opportunity to create the critical mass of expertise that would potentially bring patients with specified rare diseases from all over Europe. Those patients would bring with them the resource that would help to sustain the particular Scottish infrastructure for the care and management of the conditions.I do not know whether the manufacturers of particular therapies would be prepared to do a deal on the price—I am not qualified to comment on that—but there is certainly an opportunity to build on Scotland’s expertise and create economies of scale.