Rare diseases are individually uncommon, but collectively common. Preventing the development of these diseases, stopping the appearance of signs and symptoms, or preventing further damage to the patient, can significantly reduce morbidity, mortality and healthcare costs. Therefore, prevention of rare diseases is at the top of the agenda.

To accomplish this, early detection is vital, which can be achieved through genetic testing before or during pregnancy, postnatal blood spot screening, or advanced (genetic) testing early in life. Prevention itself can be established through early pharmacological treatment, supplements or dietary adjustments. Education is also essential in this process, including informing health care professionals about rare diseases and preventative measures, as well as educating future parents about their reproductive options.