Today as many as 350 million people in the world are living with a rare disease. These diseases are often genetically determined and largely affect children. The diseases are often serious, progressive, degenerative and in many cases chronic and life-threatening. Rare disease patients spend on average more time in healthcare compared to other patients and are more costly.

Around 8,000 rare diseases have currently been surveyed and of these, the genetic cause is known for about 4,600 of them. Every year, about 250 new diagnoses are discovered, and every new diagnosis offers the possibility of developing new treatments. The market for so-called orphan drugs is deemed to have a high growth potential in relation to the market for other drugs. What are the prerequisites for Sweden and Swedish companies to benefit from this potential for innovation and growth, and to simultaneously contribute to better and more cost efficient health services? This report describes and compares prerequisites for, and initiatives in relation to, rare diseases and development of orphan drugs in Sweden, the EU, the USA and a number of countries in Asia.

Towards personalised medicine and new legislation in growth economies

In the USA, Japan and the EU there has long been specific legislation to promote the development of products for rare diseases, which has made these countries the most attractive markets. In particular the USA has been a pioneering country. However, the prospects for rare disease research and innovation are currently somewhat uncertain in the USA. In several countries, and in the EU, public initiatives in relation to rare diseases are a part of an extensive focus on personalised medicine. In growth economies such as China and India, rare diseases have long been overlooked, but specific laws are now being drafted in these countries too. In China, a new law is expected to include a definition of rare diseases, a system for data collection, guidelines for diagnostics, treatment and rehabilitation, as well as rules for import and domestic development of orphan drugs. In India, a number of notable court rulings have now led to the central government starting to draw up legislation.

National strategies and infrastructure for gene analysis

Even though a number of important initiatives have been conducted in Sweden to promote developments within rare diseases, Sweden is one of a small number of countries in Europe not to have a strategy for the field. Some other countries, France for example, have national strategies which address both medical care, research and innovation. The focus for the French strategy includes better classification, development of a national patient register, strengthened coordination of expertise, specific research and innovation financing, international cooperation and increased capacity for gene sequencing. The possibility of analysing DNA is particularly important in the diagnosis of rare diseases and Sweden is well advanced in this area. This type of diagnostics is also considered to play a central role in the transition to a more personalised healthcare system and several countries are now investing in national infrastructures to implement genetic testing on large scale.

International cooperation and consolidation of patient data

The report shows how several countries are focusing on strengthening their involvement in international consortia in order to develop new diagnostics and treatments, as well as platforms for sharing data. Sweden has good international connections, which is confirmed not least by a high level of participation in the EU’s FP7 programme and in applications to the European reference networks. At the same time, there are several global initiatives where Sweden could benefit from being more active. Examples of such projects are the International Rare Disease Research Consortium and the Beacon and Matchmaker Exchange data sharing projects. There are also a number of pilot schemes within the EU surrounding areas such as clinical trials of small populations, use of ”real” clinical data and use of registers to evaluate new drugs, which Sweden should follow and learn from. Rare diseases can also benefit from strengthened Nordic cooperation. The report shows how patient data, in both Sweden and other countries, is often dispersed in diagnosis-specific registers of varying quality. Part of the problem is that the European pharmaceutical authorities instruct companies to start new registers as market approval is received for new drugs. Moreover, there are some question marks over how the new data protection directive from the EU will affect the opportunities to share data.

Patients and relatives contributing to innovation

A clear trend in several countries is that patients and relatives are becoming increasingly active in making decisions about their own care, as well as in research and innovation projects. In several countries patient organisations have played a central role in the development. In Sweden, initiatives have been made in patient and user-driven innovation in health and medical care, and it should be possible to use these ways of working to advantage within rare diseases. There is also a need to strengthen expertise in relation to technology transfer, not least in order to utilise the innovation potential in the European reference networks.

Swedish companies’ development and requirements

The number of Swedish-developed drugs that have been granted orphan status in the EU and the USA has increased substantially in the last decade, as has the number of Swedish micro- and small businesses which are developing orphan drugs. The number of clinical trials of drugs for rare diseases has also increased in Sweden in recent years. At the same time, there are a number of areas of improvement that can promote the development of orphan drugs in Sweden. The companies in the study would like to have better opportunities to identify patients, less fragmentation of patient data, increased clarity surrounding which evidence is required to receive grants (primarily for drugs for very rare diseases), better opportunities for a national quality register to contribute to evaluations of new drugs, as well as an interface to use anonymous journal data. The companies are very positive towards the European reference networks which have now been set up and are hoping for closer cooperation with them. Moreover, Swedish strategies for both rare diseases and personalised medicine are called for.

Beneficial situation for national strategy

Sweden has implemented many important initiatives to promote developments within rare diseases and the prerequisites in the country to develop innovation for rare diseases are good. However, there are areas of improvement and that now is a good time to develop a more coherent and ambitious national strategy. Such initiative together with a national infrastructure for diagnostics using gene sequencing would be important for developments within rare diseases, as well as for the development of a more personalised healthcare system.