On an individual basis, rare diseases (RDs) can affect relatively small numbers of people. Collectively, however, they wage a significant burden—there are over 7,000 RDs and together they affect 300m people globally. The impact of RDs extends beyond their prevalence, stunting economic development the world over; although evidence on the economic burden in Europe is scarce, to provide perspective, in the US the annual costs of 15.5m people with 379 RDs equates to over US$1trn, with inpatient care and prescription medications driving 50% of total direct costs (US$449bn). Despite this, RDs continue to be relatively neglected.

For bio-pharmaceutical companies, the development of treatments for a relatively small population is often not economically viable, at least not at the prices that health services are accustomed to pay for new treatments. Meanwhile, policymakers struggle to allocate resources for specific RDs, meaning that patients face a range of challenges from securing accurate diagnosis to accessing treatment and to receiving additional support, such as psychosocial care. Put simply, even in the high-income countries of Europe, people affected by RDs face an array of health, social and economic barriers that many other patients do not.

This report seeks to both assess the RD landscape in Western Europe (focusing on RD burden, health-system infrastructure, time to diagnosis, treatment access, RD awareness and care coordination in three European countries: Germany, Spain, and the UK), to highlight progress, while evaluating existing barriers and working towards solutions and action points. Although our assessment of the specific issues in the select three countries backs up much of the evidence that reveals the broad issues highlighted above, it also reveals country-specific issues and variation in areas such as diagnosis, treatment access, social support, and treatment development and approval. All three countries have made progress, yet all are affected by serious issues that must be resolved—and all must embrace a collaborative approach that links stakeholders (notably government, policymakers, bio-pharmaceutical companies, scientific and medical experts, and patients) and crosses borders.

The UN Resolution on Rare Diseases adopted in 2021 provides a base from which health systems can not only combat the challenges and inequities faced by RD patients and their caregivers and families—it also provides an opportunity for policymakers to expand the provision of universal healthcare within their countries and health services.

We recommend the following actions in relation to the UN Resolution on Persons Living with a Rare Disease:

• Prioritise diagnosis, giving children with RDs a better start to life
• Better integrate RD management into existing healthcare structures
• Enhance the patient voice in decision-making, including for individual patients and patient-advocacy groups
• Improve the codification of rare diseases both nationally and internationally
• Expand and enhance international collaboration and collaborative research networks
• Ensure equitable access to available treatments
• Unravel the cost of inaction

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