New Study Measures Economic Impact of Delayed Diagnosis of Rare Diseases

Rare Daily Staff

Timely diagnosis and screening can shorten and possibly eliminate the diagnostic odyssey while reducing the per patient impact by as much as $517,000, according to a new study.

The report from the EveryLife Foundation for Rare Diseases made an in-depth analysis of seven rare diseases and the avoidable costs associated with them. It found the avoidable per patient medical costs and productivity losses attributable to delayed diagnosis of those seven rare diseases at between $86,000 and $517,000 per patient.

For the study, the authors included adrenoleukodystrophy, Duchenne muscular dystrophy, fragile X syndrome, generalized myasthenia gravis, Pompe disease, severe combined immunodeficiency disorder, and Wilson disease.

“The results of this study demonstrate the urgent need for faster and improved diagnostic strategies to help decrease the financial and personal impact of rare diseases on families and the healthcare system,” said Annie Kennedy, chief of policy, advocacy, and patient engagement at the EveryLife Foundation. “Timely diagnosis, using tools such as newborn screening and next-generation, evidence-based neonatal sequencing is especially important when there are disease-altering or live-saving treatments available that can prevent irreversible disease progression and change outcomes.”

It follows the release of a white paper from the organization earlier this month that calls for greater investment in these diagnostic resources that can yield significant economic benefits by reducing or eliminating unnecessary services or procedures, while also producing clinical and psychosocial benefits. It also comes a year after Everylife released its National Economic Burden of Rare Disease Study, which found the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60 percent of those costs being shouldered directly by families and society.

“Medical costs for rare diseases are inevitable, but avoidable costs from delayed diagnosis not only place financial strain on individuals and families but also divert crucial healthcare funds. These could be better used for treatments that enhance patient quality of life and boost workforce productivity,” stated Amy Brower, director of newborn screening translational research network at the American College of Medical Genetics and Genomics. “Timely diagnosis can lead to targeted therapy, surveillance for complications, and genetic counseling, which can positively affect health outcomes, survival, and the overall healthcare system.”