The Cost of Rare Diseases | Congenital Defects | JAMA | JAMA Network
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Health Agencies Update
November 23/30, 2021

The Cost of Rare Diseases

JAMA. 2021;326(20):2000. doi:10.1001/jama.2021.20455

Although research on the costs of rare diseases is limited, in part because they’re difficult to diagnose, the available evidence suggests the toll can be substantial, according to a recent Government Accountability Office (GAO) report.

A rare disease is usually defined as one that affects fewer than 200 000 people in the US. They number about 7000 conditions, an estimated 80% of which are genetic, and are often chronic, progressive, and life-threatening, the report said. Some rare diseases may be diagnosed quickly, but in other cases it can take years, during which time misdiagnoses frequently lead to unwarranted and harmful treatments, the report noted.

Besides their impact on mortality, morbidity, and use of health care services, rare diseases often disrupt work and school and can create financial hardships for patients and their families, according to the GAO.

A recent study that hadn’t been peer-reviewed estimated that the cost of rare diseases, including medical, nonmedical (such as transportation to medical appointments), and indirect costs (such as loss of income from being unable to work), totaled $966 billion in 2019 for 15.5 million people in the US who had at least 1 of 379 rare diseases, the GAO reported. The costs are incurred by patients and their families, insurance companies and government health care programs, the federal government, or combinations of them.

To prepare the report, the GAO reviewed documents from the National Institutes of Health and the US Food and Drug Administration. GAO staff also interviewed officials from those agencies; researchers and experts on rare diseases, health care, and health economics; and leaders of organizations that represent people with rare diseases, including the Aneurysm and AVM (arteriovenous malformation) Foundation, the Ehlers-Danlos Society, and the National PKU (phenylketonuria) Alliance.