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Early Rare Disease Diagnosis Could Save as Much as $500,000 per Patient

September 15, 2023


New research by the EveryLife Foundation for Rare Diseases, in one of the first studies of healthcare utilization and costs for patients with a rare disease, has found that early rare disease diagnosis could save as much as $500,000 per patient. The report, “The Cost of Delayed Diagnosis in Rare Disease,” provides a detailed analysis of the avoidable costs associated with adrenoleukodystrophy (ALD), Duchenne muscular dystrophy (DMD), fragile X syndrome (FXS), generalized myasthenia gravis (gMG), Pompe disease (PD), severe combined immunodeficiency disorder (SCID), and Wilson disease.



Credit: nambitomo/Getty Images

The study, released Thursday, provides estimates of the avoidable per patient medical costs and productivity losses of the seven rare disease ranging from $86,000 to $517,000 and noted that the benefits of early intervention are notable in states that have instituted newborn screening for disease such as ALD, Pompe disease, and SCID. Early diagnosis of these three diseases are shown to save money by eliminating the often months- or years-long diagnostic odyssey experienced by people with a rare diseases while providing the early, optimal interventions that can improve health outcomes.


“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 life-saving treatments available that can prevent irreversible disease progression and change outcomes.”




Anderson, C. (2023, September 25). Early rare disease diagnosis could save as much as $500,000 per patient. Inside Precision Medicine. https://www.insideprecisionmedicine.com/news-and-features/early-rare-disease-diagnosis-could-save-as-much-as-500000-per-patient/

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