Berlin – Unspecific symptoms, complex clinical pictures and long diagnosis times due to a lack of prior knowledge: Rare diseases pose great challenges for those affected and for doctors. Despite the rarity value, more than three quarters of doctors in Germany have had contact with patients with a rare disease. This is shown by a new study by the Health Knowledge Foundation on the occasion of Rare Disease Day on February 28th.
At 76 percent, the majority of doctors in Germany have already had contact with a patient with a (suspected) diagnosis of a rare disease. This was the result of a recent survey by the Health Knowledge Foundation of doctors on the subject of rare diseases, which was carried out among 455 doctors in Germany. However, too little is known about many rare diseases: The study also showed that only 16 percent of the doctors surveyed who had already had contact with patients with rare diseases or a suspected diagnosis as part of their medical work simply did it found it helpful for these patients to navigate the care system, while 75 percent found it complicated.
Those involved on both sides are finding it increasingly difficult to find reliable information about illnesses and appropriate contact points. In addition, often only a few people suffer from the respective disease, even if around 4 million people in Germany are affected by a rare disease. One speaks of a rare disease when no more than 5 out of 10,000 people are affected by it. This also makes medical studies on clinical pictures more difficult.
The findings of the current survey can help to prepare information better in the future, among other things because you can see which topics still require information. The Health Knowledge Foundation would like to use the data to further develop its central information portal on rare diseases.
Background to the survey:
The current survey of doctors on the subject of rare diseases by the Health Knowledge Foundation was carried out by forsa. For this purpose, 455 doctors were surveyed in the period from January 12 to February 7, 2023. The study was created as part of the further development of the Central Information Portal on Rare Diseases (ZIPSE) in order to adapt the information provided more to the challenges in the everyday care of doctors.
Central Information Portal on Rare Diseases (ZIPSE)
A specific individual disease may be rare, but there are more than 6000 different rare diseases in total. Those affected often feel left alone in their search for information, and it is also a challenge for doctors. “Our central information portal about rare diseases is a reliable guide that evaluates sources of information based on scientifically developed test criteria and thus offers patients orientation in their search for dealing with the disease,” says PD Dr. Ralf Suhr, Chairman of the Health Knowledge Foundation. In addition to the extensive sources of information on rare diseases, the portal now also contains evidence-based and multimedia information on diagnostics, therapy, self-help, research and possible care facilities. It explains what rare diseases are, how self-help groups can support and shows access to the care system, for example how to contact a center for rare diseases. “We are continuously working on further developing our information portal and improving the search for information for those affected and doctors. In this way, we want to contribute to improving the health situation of people with rare diseases in Germany in the long term,” says Suhr.
The Central Information Portal on Rare Diseases (ZIPSE) was designed and created by various experts with funding from the Federal Ministry of Health. It is part of the National Action Plan for People Living with Rare Diseases. The Health Knowledge Foundation took over the portal in 2019 and has since started to develop the content further.
=> Here you come directly to the central information portal about rare diseases
About the Health Knowledge Foundation:
The non-profit, operational health knowledge foundation based in Berlin wants to strengthen the competence of people in Germany with regard to health and prevention and to reduce the information asymmetries between doctor and patient. To this end, it creates, among other things, health information that is understandable for laypeople on the basis of current scientific findings, shows prevention options and treatment alternatives and promotes health knowledge in general. The sponsor is the Association of Private Health Insurance.