Profiling And Diagnosing Rare Disease Patients

While there is no universal definition of a rare disease, a disease is defined as rare in the United States if it affects less than 200,000 people (620 patients per million).^1,2 Today, there are nearly 7,000 known rare diseases affecting 30 million people in the U.S.³ While each disease affects a small patient population, as a category, rare diseases have a significant impact on patients, their families, and the healthcare system.

Rare diseases are devastating to children and families. 95% of rare diseases have no pharmacological treatment options, exacerbating the mis-diagnosis trajectory, and resulting in significant healthcare spend that does not improve patient outcomes.⁴ Many of these diseases are chronic, debilitating, or fatal. In the small number of cases where treatments exist, they are often complex, costly, and patients may wait years for a correct diagnosis.