Economic Burden of Rare Diseases Nearly $1 Trillion

While there are estimated to be more than 7,000 rare diseases, The National Economic Burden of Rare Disease Study includes 379 rare diseases in its assessment. The study estimates that individuals affected by these diseases incurred direct medical costs amounting to $418 billion in 2019, including expenditures for inpatient hospital or outpatient care, physician visits, prescription medications, and durable medical equipment.

Indirect and Non-Medical Costs Totaled $548 Billion in 2019

The study also identifies indirect and non-medical costs, estimated at an additional $548 billion in 2019, as the primary cost drivers of the rare disease economic burden in the U.S. This estimate sheds light on a set of costs that previous studies did not examine across rare diseases. It includes the indirect costs of lost productivity due to forced retirement, absenteeism, “presenteeism” (lost productivity occurring when employees cannot fully function in the workplace), and social productivity loss in community participation and volunteer work.

This estimate also encompasses costs of healthcare services not covered by insurance, including experimental treatments, alternative or non-traditional treatments such as acupuncture, as well as medical foods and dental surgeries. Non-medical costs include paid daily care, necessary home and vehicle modifications, transportation costs, home schooling, missed schooling, and special education.