A new, retrospective study of medical and insurance records indicates health care costs for people with a rare disease have been underestimated and are three to five times greater than the costs for people without a rare disease. The study, led by the National Institutes of Health’s National Center for Advancing Translational Sciences (NCATS), provides new evidence of the potential impact of rare diseases on public health, suggesting that nationwide medical costs for individuals with rare diseases are on par with those for cancer and heart failure. The study’s results were published Oct. 21 in the Orphanet Journal of Rare Diseases.
There needs to be greater public awareness of the large and growing medical footprint of rare diseases in society. Only about 10% of rare diseases have an FDA-approved therapy for their treatment. The findings underscore an urgent need for more research, and earlier and more accurate diagnoses of and interventions for these disorders.”
Most of the approximately 7,000 to 10,000 known rare diseases disproportionately affect children, adolescents and young adults. Individually, most rare diseases might affect only a few hundred to a few thousand people worldwide. However, rare diseases are collectively common, affecting an estimated 25 million to 30 million people in the United States. Many of these diseases have a genetic cause, are serious or life-threatening and are hard to diagnose and treat.
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. Pariser and colleagues analyzed patients’ diagnosis information in medical records and billing codes. They used International Classification of Diseases (ICD) codes, which designate a disease diagnosis and other methods, to determine those individuals with rare diseases and their direct medical costs for 14 rare diseases in four health care systems compared to non-rare disease patients of a similar age.
The pilot study aimed to test the feasibility of this approach in analyzing data on rare diseases prevalence and costs. The 14 rare diseases represented a diverse set of disorders that differ in prevalence, organ systems affected, age of onset, clinical course, and availability of an approved treatment or specific ICD code. Examples of the selected rare diseases include sickle cell disease, muscular dystrophy and eosinophilic esophagitis.