Patients with rare diseases face much higher health care costs


Aaron Kunkler


A new study suggests that people with rare diseases face much higher health care costs than those without a rare disease. 

The study was led by the National Institute of Health and published on Oct. 21. It found that over a 15 year period, the cost per patient per year for a patient with a rare disease ranged from $8,812 to $140,044, compared to $5,862 for those without a rare disease. 


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The team extrapolated the average costs, and estimated that for the approximately 25 to 30 million people with rare diseases in the US., the yearly direct medical costs totaled roughly $400 billion, which is similar to annual direct medical costs for cancer, heart failure and Alzheimer’s disease.

The researchers also noted that by analyzing the medical records, they found that rare diseases patients often share a consistent group of symptoms including seizures, infections and developmental delay. This could help clinicians make diagnoses more quickly and begin treatment earlier. These commonalities could indicate that machine learning techniques of health care system databases could be effective in improving diagnosis. 

Rare disease patients are likely to require more time in the hospital and incur greater medical expenses over a lifetime than those without. 

“There needs to be greater public awareness of the large and growing medical footprint of rare diseases in society,” said senior author Anne Pariser, M.D., director of the NCATS Office of Rare Diseases Research, in a statement. “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.”

Gene therapy to treat rare and genetic diseases was the topic of conversation at a State of Reform 5 Slides conversation on Oct. 21. During the conversation, Ryan Fischer, chief advocacy officer for Parent Project Muscular Dystrophy, said most gene therapy treatments available now cost more than $1 million. 

“These are high-cost drugs, but they are also one-time treatments,” Fischer said. “…I think costs will come down over time.” 

Payments could also be tied to milestones, to measure the effectiveness of a treatment, but how to price gene therapy will need to be discussed as more gene therapy treatments make their way to the market. 

According to the National Institute of Health study, most of the roughly 7,000 to 10,000 known rare diseases disproportionately impact children and youths. Many of these diseases are genetic and are serious or life-threatening and hard to diagnose and treat.