EU Health Policy, Coherence, Stakeholder Diversity and Their Impact on the EMA.

Innovation is a major pillar in bringing new, targeted medicines to patients. In the health arena, this means the translation of knowledge into what we can call "value." The latter covers the value to patients but must also take into account value to healthcare systems, society and, of course, manufacturers. The EU has recognised that innovations in healthcare can contribute to the health and well-being of citizens and patients through access to new products, services and treatments with added value. It is also aware that in order to stimulate development, there is a need to facilitate the translation of scientific advances into innovative medicinal products that meet regulatory standards, accelerate patients' access to new therapies and are affordable to Member States' health systems. Early dialogue between technology developers, regulators, health technology assessment and, where relevant, pricing bodies will promote innovation and quicker access to medicines at affordable prices, for the benefit of patients. But while uncertainties in healthcare policy still exist, a request by the European Ombudsman to the European Medicines Agency to provide more information about its early dialogue procedures questions the above "early dialogue" principal. It raises the issue of what the EU aims to do with its health regulation in bringing innovation to the patient. Is this added uncertainty about the hereto trusted role of the EMA a welcome development? Not necessarily.

The path to successful commercialization of cell and gene therapies: empowering patient advocates.

Often, novel gene and cell therapies provide hope for many people living with incurable diseases. To facilitate and accelerate a successful regulatory approval and commercialization path for effective, safe and affordable cell and gene therapies, the involvement of patient advocacy groups (PAGs) should be considered early in the development process. This report provides a thorough overview of the various roles PAGs play in the clinical translation of cell and gene therapies and how they can bring about positive changes in the regulatory process, infrastructure improvements and market stability.

Generating health technology assessment evidence for rare diseases.

OBJECTIVES: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required. METHODS: Discussion with an expert panel was augmented with references and case studies to explore robust approaches for HTA evidence generation for rare disease treatments. RESULTS: Traditional RCTs can be modified using sequential, three-stage or adaptive designs to gain more power from a small patient population or to focus trial design. However, such designs need to maintain important design aspects such as randomization and blinding and be analyzed to take account of the multiple analyses performed. N-of-1 trials use within-patient randomization to test repeat periods of treatment and control until a response is clear. Such trials could be particularly valuable for rare diseases and when prospectively planned across several patients and analyzed using Bayesian techniques, a population effect can be estimated that might be of value to HTA. When the optimal outcome is unclear in a rare disease, disease specific patient reported outcomes can elucidate impacts on patients' functioning and wellbeing. Likewise, qualitative research can be used to elicit patients' perspectives, with just a small number of patients. CONCLUSIONS: International consensus is needed on ways to improve evidence collection and assessment of technologies for rare diseases, which recognize the value of novel study designs and analyses in a setting where the outcomes and effects of importance are yet to be agreed.

Pfizer-sponsored satellite symposium at the European Haemophilia Consortium (EHC) Congress: changing the policy landscape: haemophilia patient involvement in healthcare decision-making.

The annual European Haemophilia Consortium (EHC) Conference 2013, held in Bucharest, Romania, 4-5 October, was attended by over 200 patient advocates, policy makers and healthcare professionals from across Europe. Pfizer sponsored a satellite symposium at the conference entitled: 'Changing the policy landscape: haemophilia patient involvement in healthcare decision making', drawing on expertise from a panel specialising in the field of rare disease. The symposium, chaired by Declan Noone (Irish Haemophilia Society) on behalf of Brian O'Mahony (Irish Haemophilia Society), examined the current policy and economic landscape in Europe and how pressures on healthcare budgets are impacting haemophilia care. The symposium also discussed the importance of representing the 'patient voice' in key policy decisions through identification of opportunities for patient advocacy group engagement. Alastair Kent (Genetic Alliance UK) opened the session by highlighting that the downturn in the global economy has refocused decision-making in healthcare, moving cost-effectiveness of healthcare interventions higher up the agenda for decision-makers and payers. In light of this, patient engagement is more important than ever, particularly in healthcare technology assessments (HTAs), to ensure that patient and family opinions are represented. Ségolène Aymé (Orphanet) built upon this in her session discussing the rare disease policy landscape and regional initiatives taking place in Europe, including the EUROPLAN process, for which the participation of the haemophilia community is critical. Finally, Declan Noone provided an example of how the EHC, through its survey of 35 countries, demonstrated not only the considerable differences in the quality of care available for people with haemophilia across Europe, but also how the data from the survey could be used as a powerful advocacy tool to initiate change in countries with lower gross domestic product (GDP) that face healthcare spending challenges. The meeting closed with a 'call to action' for patient advocacy groups, focusing on avenues by which patients can become involved in the decision-making for policies that will ultimately affect access to, and quality of, haemophilia care in their country.

A pilot study of multicriteria decision analysis for valuing orphan medicines.

OBJECTIVE: To pilot the use of multicriteria decision analysis to establish and apply a framework of weighted attributes to value orphan medicinal products. METHODS: Literature searches on the natural history and burden of 40 rare diseases and of how payers assess treatment value and three workshops with, respectively, GlaxoSmithKline managers working on orphan medicinal products, European Union clinical and health economics experts, and representatives of rare diseases patient groups in the European Union. RESULTS: Eight nonmonetary attributes were identified and weights agreed: four concern the disease being treated and four the treatment itself. About half of the weight went to attributes of the disease treated and half to attributes of the treatment. Patient group representatives gave greater weight than did the experts to patients' and carers' quality of daily life. CONCLUSIONS: The multicriteria decision analysis approach piloted works and could be developed for use by payers and health technology assessment bodies.

An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries.

The aim of this study was to assess the quality of written information for patients and families about genetic testing, from a range of European countries. Written information relating to genetic testing for five conditions was gathered from genetic departments across seven European countries. Written information for each condition from each country was randomly chosen for assessment. Fourteen key issues had been identified by a number of pre-existing tools (in particular the DISCERN-Genetics tool) as being important for inclusion when developing or assessing material relating to genetic testing. Fifty pieces in total were assessed for the inclusion or omission of key issues. Although the majority of information discussed issues relating to the condition including background and effect (n=48, 96%), treatment and management (n=37, 74%) and heredity and risk (n=49, 98%), only half the information discussed where to obtain additional information and support (n=25, 50%). Less than half the information discussed what happens after the test (n=15, 30%), patient rights (n=12, 24%) and shared decision making (n=12, 24). Benefits were more likely to be included (n=41, 82%) than any risks involved (n=24, 48%). The issue discussed least frequently was the possible psychological and social effects of genetic testing (n=9, 18%). Pre-written leaflets tended to provide a more comprehensive discussion of the issues surrounding genetic testing than personal letters did and should therefore routinely be available to patients alongside personal letters. Written information should include risks and limitations of testing as well as discussion of the psychological and social aspects of genetic testing.