Anne Pariser, MD, Director of the NCATS’ Office of Rare Diseases Research, discusses their study examining the prevalence and medical costs of some rare diseases. 

The study, published in the Orphanet Journal of Rare Diseases, is a retrospective study which demonstrated that health care costs for people with rare diseases are three to five times greater than costs for those without rare diseases. 

The pilot study was a collaborative effort among NCATS; Eversana Life Sciences, Chicago; Oregon Health & Science University, Portland; Sanford Health, Sioux Falls, South Dakota; and a health insurer in Australia. Using International Classification of Diseases (ICD) codes, they estimated the direct medical costs for 14 rare diseases in four health care systems compared to patients of a similar age who do not have rare conditions.

The 14 rare diseases were Batten disease, Charcot Marie Tooth, cystic fibrosis, eosinophilic esophagitis, focal and segmental glomerulosclerosis, hereditary hemorrhagic telangiectasia, Lennox Gastaut syndrome, mitochondrial neurogastrointestinal encephalopathy, muscular dystrophy osteogenesis imperfecta, pheochromocytoma, sickle cell disease, Takayasu’s arteritis, and urea cycle disorder.

The NCATS data, which drew from estimates mostly from Florida Medicaid information over five years, indicated PPPY costs ranging from $4,859 to $18,994 for rare diseases patients versus $2,211 for those without a rare disease. (The amounts were even higher when examining data from Eversana healthcare – a private insurance company.)

Extrapolating to the whole population, the total yearly direct medical costs for people with rare disease is approximately $400 billion – an amount similar to the annual costs for cancer, heart failure, and Alzheimer’s disease.

One interesting observation noted by Dr. Pariser was that the cost of a patient with cystic fibrosis was similar  whether they were diagnosed early and given expensive medication (e.g., orphan drugs) but living a relatively healthy life or diagnosed later but requiring expensive medical interventions (e.g., lung transplant) with a poorer quality of life.

To keep up with our latest interviews with today’s thought leaders, follow us on Twitter @CheckRare 


Tisdale A, Cutillo CM, Nathan R et al. The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems. Orphanet J Rare Dis 2021; 16: 429.