Of a total of around 30,000 known diseases, 6,000 are rare diseases, also known as “orphan diseases”. A disease is considered rare if no more than 5 out of 10,000 people are affected. In Germany, approximately four million people suffer from such a disease.
Rare diseases are often chronically progressive and often life-threatening; many are genetic. There is no causal therapy for most rare diseases, but medical measures can nevertheless improve the quality of life of those affected and also increase their life expectancy. With the help of advanced diagnostics, especially in the field of molecular genetics, more and more diseases are being discovered.
People with a rare disease face a variety of difficulties: incorrect or delayed diagnosis, lack of information, psychological strain due to isolation, difficult access to qualified specialist facilities and lack of hope for a cure as well as a lack of practical support in everyday life. For structural, medical and economic reasons, the rarity of the individual diseases makes both medical care for those affected and research to improve diagnosis and therapy more difficult. Difficulties exist above all in access to qualified specialist facilities.
This gives rise to ethical questions at all levels of health care. The integration of the perspective of people with rare diseases requires a new evaluation of entitlements, entitlement limits and steering instruments. A special focus lies on the problem of how to balance the justified claims of people with rare diseases with the structural and economic limitations of the health care system.
The German Ethics Council discussed these issues with patients and experts from the health care system.