Genetic Alliance UK staff were out in force at the biggest rare disease conference for researchers and patients in Europe, the European Conference on Rare Diseases, Edinburgh May 2016 – and the quality of our contribution has been recognised by the organisers.
The organisers reviewed and rated all the posters at the conference and we are thrilled that our two research studies made it into the top 20 posters, out of more than 130.
Genetic Alliance UK are undertaking the ‘Hidden Costs’ project, to test the feasibility of researching the psychosocial and economic costs of models of health service delivery for rare diseases, from the perspective of patients, their families and the NHS in the UK.
The feasibility study, overseen by a steering group, focuses on 6 rare conditions and undiagnosed conditions. The study includes a literature review, exploratory meetings with patient organisations, semi-structured interviews (with patients, carers, healthcare professionals and commissioners) and an assessment of approaches to data collection.
The literature review has demonstrated that little systematic research has been conducted in this area, and our understanding of the true costs and the impact of the way health services are delivered for rare conditions is limited. Emerging findings confirm that health services for rare conditions are organised in many different ways, with patients and families experiencing varying levels or types of care coordination depending on whether they have a diagnosis, which condition they have, their age, where they live and which service they choose to access. Qualitative interviews are revealing a range of different and ‘hidden’ costs that patients and families face as a result of managing their condition and coordinating their care. Costs include financial costs, such as those associated with travel to frequent appointments, and significant psychosocial costs – for patients, parents (of affected children) and wider family members. A huge cost faced by patients and their parents was time – the time individuals spent ‘project managing’ their care was described as a significant burden.
Managing diagnosed and undiagnosed rare conditions can be stressful and costly, for both families and the NHS. Understanding the full costs, both economic and psychosocial, of managing rare disease patients through different models of service coordination will be valuable evidence for decision makers and commissioners in the NHS as they plan service developments and support best practice. A final report detailing the results of the feasibility study will be produced in 2016 to inform future research proposals in this area.
The Hidden Costs project has been undertaken by Genetic Alliance UK, funded by Shire through a Services Agreement and by Genzyme through a restricted educational grant. Shire’s support made the project possible. Genzyme’s funding enabled us to study more conditions and in greater depth.
Understanding the wider impact of adrenal insufficiency: patient organisation involvement in the TAIN project
Amy Simpson1, Amy Hunter1, Martin J Whitaker2,3
1 Genetic Alliance UK, London, N1 3QP, UK; 2 University of Sheffield, Sheffield, S10 2TN, UK; 3 Diurnal Limited, Cardiff, CF14 4UJ, UK
Those affected by adrenal insufficiency require daily glucocorticoid hormone replacement therapy. Currently, there is no licensed treatment for patients under 6 years of age in Europe and existing treatment often requires adapting adult doses by crushing tablets. Until now, little was known about the psychosocial impact of living with and treating adrenal insufficiency.
The European Commission funded TAIN project is developing an innovative formulation of hydrocortisone for children affected by adrenal insufficiency. Genetic Alliance UK is working with parents of affected children to ensure that their experiences inform the development of effective treatments.
Taking a mixed methods approach, Genetic Alliance UK conducted and analysed 17 semi-structured interviews with parents in the UK. Subsequently, an online survey was developed, piloted and disseminated widely to parents of children under the age of 6 in the UK, the Netherlands and Germany. Detailed analysis is ongoing. The study was approved by the University of Sheffield’s research ethics committee.
Findings have provided an insight into the wider impact of adrenal insufficiency, the challenges associated with parenting a child with a rare condition and the chronic treatment regime. Interviewees reported a lack of awareness of the condition, delays in getting an accurate diagnosis and disparities in care across the UK. Although parents reported that their child’s condition was relatively well managed, many described a number of challenges associated with the treatment regime and made suggestions for how it could be improved. They reported disruption to their daily routines, anxiety about administering the right dose at the right time and difficulties in delegating responsibility for their child’s care and medication. The challenges were particularly acute for new parents.
Genetic Alliance UK’s involvement has added value to the TAIN project. It has increased understanding of the reality of living with adrenal insufficiency from the family perspective. This context is critical to the development of interventions, which are lacking for many rare diseases. Dissemination of results to families and stakeholders will raise awareness and knowledge of the impact of this rare condition. The research has highlighted unmet needs of families and helped identify areas for future research and opportunities to influence policy of benefit to patients. The TAIN project has laid the foundation for a long-lasting collaboration between patient organisations, industry and academia in the field of adrenal insufficiency and provides a useful example of the potential benefits of such a partnership.
The TAIN project is funded by the European Commission under a Framework 7 Grant (No: 281654 – TAIN) [www.tain-project.org]