In a new study about healthcare resource utilization and costs for patients with rare disease, the EveryLife Foundation for Rare Diseases reveals that timely diagnosis and screening can shorten and possibly eliminate the diagnostic odyssey while significantly reducing the cost impact of rare diseases for individuals, families, and the healthcare system.

The report, entitled, “The Cost of Delayed Diagnosis in Rare Disease,” is a follow-up to the landmark 2021 “National Economic Burden of Rare Disease Study,” and provides an in-depth analysis of the avoidable costs associated with seven rare diseases:

  • Adrenoleukodystrophy (ALD)
  • Duchenne muscular dystrophy (DMD)
  • Fragile X syndrome (FXS)
  • Generalized myasthenia gravis (gMG)
  • Pompe disease
  • Severe combined immunodeficiency disorder (SCID)
  • Wilson disease

The study, results of which were unveiled at a September 14 briefing hosted by the Rare Disease Congressional Caucus, estimates 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. The benefits of timely intervention are especially profound in diseases for which newborn screening has been implemented in some or all U.S. states, such as ALD, Pompe disease, and SCID; for these three rare diseases, timely diagnosis can eliminate the diagnostic odyssey and its associated medical costs and provide the opportunity for optimal intervention and improved health outcomes.

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“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,” says 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.”

A recent white paper released by EveryLife Foundation entitled, “Pioneering the New Era of Newborn Screening” advocates 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.

The 2022 “National Economic Burden of Rare Disease Study” estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society. The 2022 study also noted that, from the first appearance of symptoms, it can take more than six years and as many as 17 clinical encounters before a person receives a definitive rare disease diagnosis. That finding was a major impetus for the new study, which showed that individuals whose diagnoses were delayed by an average of five years were approximately four times as likely to see three or more specialists as those with shorter diagnostic odysseys.

“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,” says Amy Brower, PhD, 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.”

The financial effects of receiving a delayed diagnosis were particularly acute among patients with ALD and DMD, as measured by direct medical costs, a category that includes inpatient hospital or outpatient care, emergency department visits, physician visits, prescription medications, and Medicaid-covered caregiver services.For individuals with late onset Pompe disease, delayed diagnosis increased mean annual direct medical costs in the year of diagnosis by approximately $50,000 per patient compared with timely diagnosis.

The report also documented the cost-saving benefits of early detection and newborn screening in diseases for which this life-saving intervention has been implemented (i.e., ALD, Pompe disease, and SCID). In the case of ALD, annualized per patient direct medical costs were nearly twice as low in the year of diagnosis and more than 10-fold lower per year post-diagnosis among those diagnosed in the first year of life compared with those diagnosed later.

“For this study we chose seven diseases for which there is an existing path to diagnosis, but for the vast majority of rare conditions the search for answers goes on and on,” says Annie Kennedy. “Therefore, the costs described in the study are gross underestimates for those who never reach the end of their diagnostic odyssey.”

In patients with FXS, for example, these cost categories were similar in the timely and delayed diagnosis groups. However, in FXS, caregiver days of missed work in the year of diagnosis (21.5) and post-diagnosis periods (21.4) were nearly twice as high in the delayed diagnosis group as in the timely diagnosis group (12.8 and 10.1, respectively).

Study Methodology

The “Cost Benefits of Early Diagnosis and Screening in Rare Disease” researchers used detailed patient journey maps, based on comprehensive literature review and consultation with a clinical advisory group, to inform their analysis. The researchers conducted a comprehensive literature review to understand disease epidemiology, disease milestones and progression, testing and procedures that can be part of the diagnostic odyssey, and the economic burden of the seven rare diseases covered in the report. 

In collaboration with the EveryLife Foundation, the research team identified 27 experts representing the research, clinical, and patient advocacy communities to join a technical advisory panel composed of pediatricians, patients, family members, disease advocates, and researchers. The clinical advisory panel reviewed and provided input to refine and finalize the journey maps. In addition, over the course of the project, the research team conducted five panel discussions to spearhead the project direction and to review the interim output and study results.

To estimate direct medical costs per patient, the researchers used claims data from two sources: the Transformed Medicaid Statistical Information System (TMSIS) and Optum deidentified Normative Health Information (dNHI), a large, geographically diverse medical and pharmacy claims database for the privately insured. The source population included patients diagnosed with any of the seven rare diseases of interest from 2016 to 2020 (except for individuals with DMD, who were diagnosed from 2018 through 2020). Medical costs were estimated for periods pre-diagnosis, the year of diagnosis, and post-diagnosis.

To quantify the cost of the diagnostic journey and delayed diagnosis incurred by a rare disease patient and their caregiver, the researchers estimated the number of work hours missed due to medical appointments multiplied by the mean hourly wage in 2021 dollars from the Bureau of Labor Statistics, and estimated the cumulative productivity losses by multiplying the number of years diagnosis was delayed by the per patient per year productivity loss in the pre-diagnosis period.