This report from MediFind and Rare Patient Voice examines the current state of the diagnostic odyssey for patients with complex diseases.
The findings are based on a 2021 survey of 1,229 U.S. patients living with a wide range of complex health conditions characterized as serious, life-threatening or rare.
The report reveals progress being made, but unevenly across disease types and other demographics. Key takeaways include:
- 65% of rare disease patients report being misdiagnosed before receiving the correct diagnosis
- Genetic testing is not a mainstay of rare-disease diagnosis, with only 20% of patients diagnosed with a rare disease in the past two years reporting that they received genetic testing.
- 55% of rare disease patients say clinical expertise is the most important factor when choosing their doctor, as opposed to 47% of complex disease patients.
