Genetic Alliance UK – Written evidence (LSI0079)

Introduction

1.              Genetic Alliance UK is the national charity working to improve the lives of patients and families affected by all types of genetic conditions. We are an alliance of over 180 patient organisations. Our aim is to ensure that high quality services, information and support are provided to all who need them. We actively support research and innovation across the field of genetic medicine.

2.              Rare Disease UK (RDUK) is a multi-stakeholder campaign run by Genetic Alliance UK, working towards the delivery and implementation of the UK Strategy for Rare Diseases[1], signed by all four health departments in the UK and published by the Department of Health in November 2013.

3.              Genetic Alliance UK speaks from the perspective of families affected by genetic conditions who look toward innovation and research as a means to deliver effective therapies for currently untreatable conditions. We welcome the opportunity to respond to this call for evidence.

Question 6: Does the strategy contain the right recommendations? What should it contain/what is missing? How will the life sciences strategy interact with the wider industrial strategy, including regional and devolved administration strategies? How will the strategies be coordinated so that they don’t operate in ‘silos’?

4.              We welcome the recognition of the significance and transformative potential of the life science sector to the UK, particularly in the context of Brexit, which has led to the development of both the Building Our Industrial Strategy green paper and the Life Sciences Industrial Strategy itself. However, many of the recommendations lack the concrete detail that is necessary to achieve and measure success. An example of such vague and aspirational content is the recommendation on page 44 that the UK should ‘attract substantial investment to manufacture and export high-value life science products of the future’.

5.              It is also frustrating that at the time of publication of the Life Sciences Industrial Strategy the government response to the Accelerated Access Review has still not been published. This rapid succession of independent reviews and strategies, often overlapping and at cross-purposes and without a government response or implementation, achieves little.

6.              We are concerned that the Life Sciences Industrial Strategy does not give sufficient importance to the involvement of, and outcomes for, patients and the public. Regardless of the economic benefits for the UK, if real benefits for patients are not delivered then the strategy will have failed.

7.              Within the rare disease patient community there is significant unmet medical need, and patients rely on the development and availability of new medicines to improve the duration and quality of their lives. So it’s crucial that right from the beginning, throughout the whole pathway of research and development, research takes the priorities of patients into account. The best way to achieve this is for researchers to collaborate with patient groups and clinicians throughout research and development.

Patient data as a resource for research within the life sciences

8.              Many rare diseases are severe and life-limiting. For individuals or families affected by most rare diseases, the day-to-day challenges of managing a severe condition are made worse by the absence of an effective treatment or cure. These patients look to research as the source of new therapies to address their unmet health need. In order for progress to be made, patients recognise that the rarity of their conditions means that research relies on the effective sharing and use of their medical data, nationally and internationally (Genetic Alliance UK, 2015).

9.              Collating and sharing patient data can help improve our basic understanding of the natural history of rare diseases. This type of information is essential as a basis for making research design and funding decisions or for enabling evidence-based commissioning. It is important in both cases to be able to estimate disease burden in order to demonstrate the impact that a new treatment or preventative therapy may have. It also provides a research resource itself, either for epidemiological studies, such as considerations of research feasibility, recording patient outcomes following a new treatment, or for service provision planning.

10.              We welcome the recognition in the Life Sciences Industrial Strategy that in order for any health data initiative to be successful, a national conversation with the public about data usage is needed. We understand that the intention is still for NHS Digital to be ready to deliver the new model of data sharing opt outs by March 2018. We are concerned that this is too short a timeframe for the necessary public conversation about patient data to have taken place, with the consequent risk of a repetition of the public backlash which occurred previously. While it is important for researchers to be able to benefit from access to patient data as soon as possible, it is also essential that this not be rushed if this might set back public trust and willingness to share data, potentially setting the sector back years.

11.              The scale of the challenge to the NHS that rare, genetic and undiagnosed conditions present is difficult to ascertain. Currently the NHS does not record health information to a sufficient granularity for many individual rare diseases to be visible in the data. It is not currently possible to definitively know how many UK citizens are affected by a large number of rare or genetic conditions. (Where it is possible, it is usually due to independent data collection by a patient organisation or research project.) Far less is it possible to tell how old patients are and where they live. Without this basic information it is impossible for the Government health departments in the UK and their NHSs to plan effectively and build a health service that is suitable for delivering healthcare for the patients that Genetic Alliance UK and its Rare Disease UK campaign represent.

Registries for patient data

12.              The Life Sciences Industrial Strategy recommends that national registries of therapy-area-specific data across the whole of the NHS in England should be created and aligned with the relevant charity. While we appreciate the good intentions behind this recommendation, in the field of rare diseases this may actually be a backward step. This is due to the additional difficulties of small patient populations, the greater impact of any gaps in data, coding challenges and the complex and multisystemic nature of many rare diseases. An additional consideration, particularly challenging in the rare disease field, is the failure to consider whether the charity has the resources or ability to deliver this.

13.              Instead we would support the strengthening of the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), which was launched by Public Health England (PHE) on the 1st of April 2015, and now incorporates the regional congenital anomaly registers and the National Down Syndrome Cytogenetic Register (NDSCR). In those parts of the country where there was no data collection, new regional teams have been established meaning that, for the first time, we have 100% geographical coverage of congenital anomaly surveillance across England. The visibility and ability to plan alone will be step change for our community, but the full benefits that such a store of information could deliver are difficult to predict. In short, NCARDRS has the potential to be the biggest influence on improved healthcare for patients with rare diseases in England (and hopefully the rest of the UK) in a generation.

14.              The NCARDRS team have been engaging with Genetic Alliance UK, our campaign Rare Disease UK and our broader community, throughout the development of the registry. The team has also developed a partnership with Rare Disease UK's Patient Empowerment Group to ensure patient input into the development of NCARDRS. The NCARDRS team have also helped to facilitate Patient Empowerment Group meetings.

Question 7: What opportunities for small and medium sized enterprises (SMEs) are there/should there be in the strategy? How can they be involved in its development and implementation?

15.              While early provision of guidance and support is potentially hugely valuable to developers, we are seeing in existing regulatory processes, such as in the UK Advanced Therapy Medicinal Product (ATMP) sector, that many developers are not utilising the opportunities to engage with regulatory bodies that already exist. A key challenge is how to encourage developers to communicate with regulators such as the MHRA or EMA earlier and more often than is common practice. It is not sufficient for the advice and support to be available, its availability needs to be promoted widely. Any new system will need to proactively engage with developers and encourage them to consider their interactions with regulatory bodies as a conversation rather than a single hurdle to be overcome.

Question 11: How can the recommendations of the Accelerated Access Review be taken forward alongside the strategy? Will the recent changes to the NHS England approval process for drugs have a positive or negative effect on the availability of new and innovative treatments in the NHS? How can quick access to new treatments and the need to provide value for money be reconciled?

16.              We welcome the recognition in the Life Sciences Industrial Strategy that delays in access to and diffusion of products in the NHS compared to comparable countries are a major obstacle to the full development of the UK life sciences sector.

17.              There is much more that could and should be done to address the barriers that currently inhibit the adoption and integration of research and innovation into the NHS. This includes ensuring that: all NHS staff training includes developing the knowledge and skills required for innovative thinking; greater value is attributed to successful innovation at all levels and that it is officially recognised and rewarded; research regulation and permissions are streamlined; collaboration between the NHS and research communities is actively encouraged; suitable incentives and funding initiatives are put in place; and that registries are created to enable the collection and exploitation of real world patient data, and promote the sharing of research findings and best practice.

18.              We would like to emphasise that innovative products should not be valued simply because they are new, but should contribute something new clinically to patients and carers. We are concerned that approaches which penalise organisations for low use of innovative products may promote indiscriminate uptake of cheaper new technologies to avoid penalties, rather than supporting the uptake of those technologies of greatest benefits to patients.

19.              However, in England the processes of health technology assessment are a major barrier to uptake of innovative technologies, at least in the field of rare disease, and this must be addressed we are to achieve an innovation-led health system.

Health technology assessment methodology in England

20.              On 1st April 2017 NICE and NHS England implemented measures to limit recommendations by its Highly Specialised Technologies Evaluation programme. These changes, which had been made public only 18 days earlier and had not been the subject of adequate consultation, will halt future access to innovative treatments for rare genetic conditions in England, and send a chilling message to the life sciences sector, that runs contrary to messages from other parts of Government including the Life Sciences Industrial Strategy and Accelerated Access Review.

21.              NICE’s original proposals were criticised because none of the four treatments recommended by the pathway to date would have been funded under the proposed threshold of £100,000 per quality adjusted life year (QALY) gained. NICE’s response has been to define a new system where the threshold could in theory be raised. We believe NICE could have been clearer when presenting the latest recommendations, specifically stating that none of the four treatments evaluated to date would have been judged sufficiently valuable to significantly raise the threshold above the originally proposed £100,000 per QALY gained.

22.              The sliding threshold only begins to expand when treatments deliver additional QALYs above 10. The most additional QALYs demonstrated so far by any of the four treatments assessed to date has been 10.14, far below the 30 additional QALYs required to take the threshold to its maximum of £300,000 per QALY gained. In practice therefore, the threshold has not been increased at all, and the position remains that none of the four treatments recommended by the HST programme to date would be funded under the new proposals.

23.              The changes implemented in April varied significantly from those proposed in NICE’s original consultation. In practice however, they are no less damaging than the original proposals which were so strongly rejected by the patient community during the consultative process.

24.              In their original proposal, NICE did not transparently state the impact of their proposals – that no technology previously recommended by an HST evaluation would meet the new criteria. Again, with their new changes, NICE have not transparently indicated that despite the changes made to the proposals following the consultation, still no technology previously recommended by an HST evaluation would have been recommended under the new regime.

25.              The HST process was designed to evaluate the effectiveness of treatments for very small patient populations without relying on calculations of cost per QALY, recognising that these health economics metrics do not adequately capture the benefit a treatment can offer to patients and families affected by a rare condition. Such a large change in scope, output and design of this important process deserved a more detailed conversation than was possible in the 18 day interval between proposal and implementation.

26.              The four topics approved to date bring tremendous benefit to the patients eligible to receive them. These are life-saving, life-lengthening treatments which have the potential to lift the burden of a rare genetic condition from a whole family. They are some of the most powerful and effective treatments for rare diseases ever seen and, under previous methodology, the HST evaluation committee was able to recommend them for funding in England. Under the new methodology, the committee is no longer be able to exercise such judgement, leaving patients in England with no route to access through the NHS. England already has extremely slow and limited access to treatments for rare genetic conditions. Further narrowing of access routes will in practice shut the door to innovation for our community of patients and families.

The bigger picture for rare disease medicines

27.              To date 150 medicines have been authorised by the European Medicines Agency for rare diseases. As of these changes being implemented at the beginning of April, England provided routine funding for just 69 of these. This is fewer than five new treatments a year during the fifteen years of the Orphan Medicinal Product Regulation in Europe. England is far behind Germany (routine funding for 133), France (for 116), Italy (for 84) and Spain (for 75) in both the number of treatments funded and in the speed of those funding decisions.

28.              There are currently nine routes through which licensed medicines for rare conditions can be evaluated and/or commissioned to enable patient access through the NHS. The alternative routes to funding for rare disease medicines not evaluated by NICE are governed by NHS England. The combined capacity of these routes have already proven to be insufficient leading to long delays in access.

29.              Currently it is not clear how or why one medicine evaluation approach or access pathway is selected over another. A lack of system coherence also means that time and money is wasted because two publicly-funded bodies, NICE and NHS England, have evaluated the same medicine simultaneously a number of times. Moreover, with such a multiplicity of approaches and pathways, the risk of making inconsistent decisions that result in inequitable access to medicines for patients with rare conditions is increased. As a result, some life-changing medicines are not being made available to the patients who need them while less effective medicines are being funded. There is a need to rationalise and streamline all medicine evaluation pathways, with a defined role and decision making framework at each stage.

30.              Our members work hard to fund, support and participate in research studies aimed at understanding and treating more rare genetic conditions. We want to be able to benefit from investment in the UK’s life sciences sector, and to participate in the development of new innovative treatments in the UK. The existing environment for funding of innovative treatments in the UK is already deterring investment from biotech firms and pharmaceutical companies. The uncertainty surrounding Brexit poses a further threat to the attractiveness of the UK as a place to perform research and to develop innovative cures and treatments for rare genetic diseases.

31.              To reverse this trend, the Accelerated Access Review has made a series of welcome recommendations, supported by the Green Paper: Building Our Industrial Strategy. We need to be working to preserve and improve the UK’s position as a centre for innovative life science. We have a broad range of rare genetic condition patient communities in the UK, who are already engaged in research, experts in their conditions, and in an excellent position to collaborate on new innovative approaches to deliver treatments. The NHS is the perfect environment for this work to happen.

32.              NICE’s proposals contradict the Accelerated Access Review’s recommendations and the Government’s vision for the UK life sciences sector as outlined in the Industrial Strategy. This contradiction needs to be urgently resolved. However, the recommendation in the Life Science Industrial Strategy for a single, value-led, NICE-managed process is not the answer, unless there is a fundamental reconsideration of approach and process. The usual response to criticism in this space, to simply add additional pathways and bodies to the already overcomplicated system, without removing any or clarifying entry requirements, will not produce the intended outcome. Instead it might be more effective to better exploit existing flexibilities, and rationalise and streamline all the pathways to commissioning, in order to bridge the gap until a full review of Health Technology Assessment in the UK.

Question 18: To what extent should the UK remain involved with and contribute to agencies such as the EMA post Brexit?

33.              The UK has a positive, future facing attitude to research and treatment innovation. When it comes to national competencies such as the regulation of reproductive choice and innovative reproductive techniques the UK is a world leader. This ‘innovation aware’ approach has been delivered by the UK to Europe through its roles in the European Council and in the European Parliament. The current balance of views in Europe has seen innovation relevant legislation such as the General Data Protection Regulation, the In Vitro Diagnostics Regulation, the Clinical Trials Regulation, and less recently the Advanced Therapies Medicinal Products Regulation pass with compromises and close calls.

34.              The UK is not the only nation of the EU with this approach and attitude; however with its population and influence at in the Parliament and the Council, its loss could lead to a shift in the landscape for the development of this kind of policy in the EU.

35.              While the current regulatory environment within the EU is clearly one that the UK should remain closely connected to, we should be aware of the risk that this environment may begin to drift towards a more conservative attitude to innovation. It will be crucial therefore ensure that we retain some influence over the EU’s attitude to innovation and innovative techniques.

36.              As therapies that involve somatic genome editing (for example) become possible, the EU may take a conservative approach to these technologies. Of course, this might present the UK with an opportunity, but we need to be careful to ensure the terms of a deal would permit this.

15 September 2017