Perspectives
Perspectives
The public health challenge of rare diseases
Many rare diseases and their symptoms are uncommon to doctors, and because of the small and geographically dispersed patient pool, market incentives to develop new solutions can be limited. Combined with complex and fluid regulatory environments, new therapeutics and innovations in rare disease diagnostics and medical technology face considerable obstacles in reaching patients, clients and funders.
Five facts illustrate the worldwide medical and public health challenge of rare diseases:
- There are over 7000 known different types of rare diseases and disorders. More are being discovered each day as our understanding of human genomics expands, and previously unknownrare genetic conditions are identified
- Rare diseases exhibit a markedly skewed distribution of prevalence – with 80% of all known rare disease patients affected by approximately 350 diseases
- For people with a rare disease, the average length of time from symptom onset to accurate diagnosis is more than 7 years.
- Rare diseases can be single gene, multifactorial, chromosomal or non-genetic. The majority have a genetic component and can be present throughout a person’s life without apparent symptoms
- Some 75% of rare diseases affect children, and approximately 50% of those know to be affected by rare diseases are children. 30% of children with rare disease will not live to see their 5th birthday. Rare diseases are responsible for 35% of deaths in the first year of life.
There are only around 400 licenced treatments for rare diseases on the market today and during the first 25 years of the US Orphan Drug Act, only 326 new drugs were approved by the FDA and brought to market. It is estimated however that 350 million people worldwide suffer from rare diseases: with 3.5 million people in the UK, 30 million people across Europe and 30 million people in the United States. It’s time to think again how we address this growing public health challenge and support new patient cantered innovations.
