Studies Show a Rare Disease Diagnosis Comes with Tremendously High Health Care Costs

According to a recent article, patients diagnosed with a rare disease are faced with incredibly high health care costs compared to those without a rare disease.

Impact of Rare Disease on Patients and Healthcare Systems Study

Anne Pariser, MD, is the director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (NCATS). She and a team of colleagues conducted a retrospective pilot study where they quantified direct medical costs for those with rare diseases. To do so, they used medical and insurance records from NCATS and the Eversana Health Care System databases. Specifically, they studied the costs associated with 14 rare diseases, while also having a control group of people without a rare disease diagnosis.

In the end, the study revealed that rare disease diagnosis costs were 1.5 to 23.9 times higher than those in the control group with no rare disease diagnosis.

The research team used the Eversana database to determine that per patient per year costs for a patient with a rare disease ranged from $8,812 to $140,044. In comparison, the control group without a rare disease had only a $5,862 cost.

The NCATS database showed similar differences between patients with a rare disease diagnosis and those without. According to this database, the per patient per year costs for a patient with a rare disease ranged from $4,859 to $18,994. The control group without a rare disease diagnosis had a $2,211 cost.


Despite their different numbers, both of the databases showed that rare disease patients’ costs were always more than people without a rare disease.

Researchers took this data one step further and found that the total direct medical costs for an estimated 25 million patients with a rare disease diagnosis in the U.S. were around $400 billion a year. This cost is similar to patients with cancer and heart failure.

These findings demonstrate the impact that rare diseases have on public health. Researchers pointed out that rare disease patients often face an unmet medical need, alongside an “urgent and considerable need for earlier and accurate rare disease diagnosis and intervention.”

Share this post

Share on facebook
Share on google
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email