The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study (“Delayed Diagnosis Study”)

Groundbreaking Study Reveals Staggering Economic Toll of Delayed Rare Disease Diagnosis

Report Calls for Urgent Advancements in Policies and Technologies

A delayed diagnosis worsens outcomes and has a significant financial impact on families, including paying for doctor visits, medical equipment, prescriptions, and transportation that could have been avoided. People living with rare diseases deserve continued advancements in policies and technologies that support better screening and timely diagnosis.

About the Study

The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study is a landmark report showing the cost savings of receiving a more timely diagnosis in rare disease.

The economic impact of a delayed diagnosis is up to $517,000 in avoidable costs per patient. Shortening the more than six-year average diagnostic odyssey saves money for individuals, caregivers, and the healthcare system, while improving health outcomes by:

• Providing earlier access to supportive therapies and treatment
• Delaying or preventing disease complications and physical disabilities
• Reducing or eliminating costly and unnecessary services or procedures

On average, it takes more than 6 years, and nearly 17 doctor visits, hospitalizations, and other health-related trips, to receive a rare disease diagnosis after symptoms begin.

The National Economic Burden of Rare Disease Study estimated the economic cost of rare diseases at nearly $1 trillion U.S. dollars.

This follow-up study looks in depth at avoidable costs across seven rare diseases. For a deeper understanding of the diagnostic odyssey, the following links outline the typical patient journey for people who received a timely diagnosis vs. a delayed diagnosis in the following rare diseases:

• Adrenoleukodystrophy (ALD)
• Duchenne Muscular Dystrophy (Duchenne)
  • Study Infographic
• Fragile X Syndrome (FXS)
• Myasthenia Gravis (gMG)
• Pompe disease
  • Study Infographic
• Severe Combined Immunodeficiency Disorder (SCID)
• Wilson disease

The RARE Foundation’s seminal Economic Burden of Rare Disease study revealed the impact of rare disease to be nearly $1 trillion dollars in 2019.

Read about this study’s findings and why we must act with urgency to address the rare disease public health crisis.

Study results provide evidence to support federal and state policies expanding diagnosis and treatment options for all rare diseases.

Pioneering the New Era of Newborn Screening

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Direct Medical Costs

Examples

• Inpatient or outpatient care
• Physician visits
• Rx medications and their administration
• Durable medical equipment

Private and public insurance programs typically pay providers directly, and patients are responsible for co-pays

Indirect Costs: Productivity Loss

Examples

• Forced retirement

• Absenteeism

• Presenteeism (when employees cannot fully function in the workplace)

• Reduction in community participation and volunteer service

Reduces income for patients and caregivers, while reducing productivity for employers, communities, society

Non-medical Healthcare Costs

Examples

• Necessary home or auto modifications

• Transportation and education costs

• Paid daily care

• Healthcare services not covered by insurance: experimental treatments, medical foods, and more

Out-of-pocket costs are absorbed directly by families living with RD

On average, the diagnostic odyssey for a rare disease patient costs over $220,000 in avoidable medical bills and lost income.

Medical + Indirect + Non-Medical = The Total Costs

The economic cost, including direct and indirect costs, of delayed diagnosis in these seven diseases is between $86,000 and $517,000 per person. Across all diseases, a timelier diagnosis reduces the economic burden.

Direct Medical Costs

In ALD, Pompe, and SCID…
Newborn screening (NBS) has been implemented nationally for these conditions, eliminating the diagnostic odyssey and resulting in no medical costs before the first year of diagnosis. Even with NBS, annual medical costs attributed to delayed diagnosis of ALD, Pompe, or SCID ranged from $46,000 to $87,000 per person.

For Fragile X Syndrome and Duchenne Muscular Dystrophy…
The economic burden, including medical costs and productivity loss, is 12-fold and 4-fold greater, respectively, with a delayed diagnosis compared with timely.

As shown in this study, timely diagnosis is essential to prevent disease complications, but even a timely path can still be improved. Advancements in technologies to screen, diagnose, treat, and manage rare diseases have the potential to dramatically shorten, or even eliminate, the diagnostic odyssey.

What Can You Do?

Make your voice heard: Engage, share your story, and get involved in advocacy.

These findings demand attention from researchers, policy makers, healthcare providers, and employers. There is an urgent need to fund research, enhance awareness, and improve access to diagnosis, care, and treatment of rare disease. Contact your elected representatives, share the study findings, and urge Congress and state governments to enhance newborn screening and other policies that facilitate patient access to diagnosis and treatment.