Rare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research and development of OMPs. Despite this advancement, patients do not have universal access to these new medicines. There are many factors that affect OMP uptake, but one of the most important is the difficulty of making pricing and reimbursement (P&R) decisions in rare diseases. Until now, there has been little consensus on the most appropriate assessment criteria, perspective or appraisal process. This paper proposes nine principles to help improve the consistency of OMP P&R assessment in Europe and ensure that value assessment, pricing and funding processes reflect the specificities of rare diseases and contribute to both the sustainability of healthcare systems and the sustainability of innovation in this field. These recommendations are the output of the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL), a collaboration between rare disease experts, patient representatives, academics, health technology assessment (HTA) practitioners, politicians and industry representatives. ORPH-VAL reached its recommendations through careful consideration of existing OMP P&R literature and through a wide consultation with expert stakeholders, including payers, regulators and patients. The principles cover four areas: OMP decision criteria, OMP decision process, OMP sustainable funding systems and European co-ordination. This paper also presents a guide to the core elements of value relevant to OMPs that should be consistently considered in all OMP appraisals. The principles outlined in this paper may be helpful in drawing together an emerging consensus on this topic and identifying areas where consistency in payer approach could be achievable and beneficial. All stakeholders have an obligation to work together to ensure that the promise of OMP’s is realised.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0601-9) contains supplementary material, which is available to authorized users.

ObjectivesTo conduct a UK-wide survey of young people who have experienced cancer, carers and professionals, to identify and prioritise research questions to inform decisions of research funders and support the case for research with this unique cancer population.DesignJames Lind Alliance Priority Setting Partnership.SettingUK health service and community.MethodsA steering group oversaw the initiative and partner organisations were recruited. Unanswered questions were collected in an online survey. Evidence searching verified uncertainties. An interim survey was used to rank questions prior to a final prioritisation workshop.ParticipantsYoung people aged 13–24 years with a current or previous cancer diagnosis, their families, friends, partners and professionals who work with this population.ResultsTwo hundred and ninety-two respondents submitted 855 potential questions. Following a refining process and removal of ‘out of scope’ questions, 208 unique questions remained. Systematic evidence checking identified seven answered questions and 16 were the subject of ongoing studies. The interim survey was completed by 174 participants. The top 30 questions were prioritised at a workshop attended by 25 young people, parents and multidisciplinary professionals. The top three priorities are: (1) What psychological support package improves psychological well-being, social functioning and mental health during and after treatment? (2) What interventions, including self-care, can reduce or reverse adverse short-term and long-term effects of cancer treatment? (3) What are the best strategies to improve access to clinical trials? The remaining questions reflect the complete cancer pathway: new therapies, life after cancer, support, education/employment, relapse and end-of-life care.ConclusionsWe have identified shared research priorities for young people with cancer using a rigorous, person-centred approach involving stakeholders typically not involved in setting the research agenda. The breadth of priorities suggest future research should focus on holistic and psychosocial care delivery as well as traditional drug/biology research.

New HTA programmes specific to OMPs have been developed but questions remain about whether they sufficiently capture value and manage uncertainty in clinical practice.

Background In many countries, committees make priority-setting decisions in order to control healthcare costs. These decisions take into account relevant criteria, including clinical effectiveness, cost-effectiveness, and need, and are supported by evidence usually drawn from clinical and economic studies. These sources of evidence do not include the specific perspective and information that patients can provide about the condition and treatment. Methods Drawing on arguments from political philosophy and ethics that are the ethical basis for many priority-setting bodies, the authors argue that criteria like need and its effects on patients and caregivers are best supported by evidence generated from patients’ experiences. Social sciences and mixed-methods research support the generation and collection of robust evidence. Results Patient experience is required for a decision-making process that considers all relevant evidence. For fair priority-setting, decision-makers should consider relevant evidence and reasons, so patient experience evidence should not be ignored. Patient experience must be gathered in a way that generates high quality and methodologically rigorous evidence. Established quantitative and qualitative methods can assure that evidence is systematic, adherent to quality standards, and valid. Patient, like clinical, evidence should be subject to a transparent review process. Discussion Considering all relevant evidence gives each person an equal opportunity at having their treatment funded. Patient experience gives context to the clinical evidence and also directly informs our understanding of the nature of the condition and its effects, including patients’ needs, how to meet them, and the burden of illness. Such evidence also serves to contextualise reported effects of the treatment. The requirement to include patient experience as evidence has important policy implications for bodies that make priority-setting decisions since it proposes that new types of evidence reviews are commissioned and considered.

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