Navigating diagnostic odyssey is a far too common experience for the rare disease community. We know that both patients and caregivers both benefit from receiving timely diagnosis. Timely diagnosis ensures optimal disease management, timely treatment initiation, and helps to alleviate the anxiety of the diagnostic odyssey.
Cost of a Delayed Diagnosis
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 can be 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
Policy Efforts
Addressing the diagnostic odyssey will require tackling a variety of policy issues. The RARE Foundation has been working to shorten the diagnostic odyssey through three key issues:
Access to Genetic Counselors
Genetic counseling is an incredibly important tool for patients and their families throughout a rare disease diagnosis. Genetic counseling uses personal health and family history to determine the likelihood that a genetic condition is present and if it will be passed on to children. Genetic counselors are extremely crucial to the diagnostic odyssey that rare disease patients face. The guidance they provide is essential to reducing the time between symptom onset and diagnosis.
The RARE Foundation supports the federal legislation, Access to Genetic Counselor Services Act (H.R. 6280/S. 3607). is the one-pager that describes the legislation and an action alert to voice your support for the bill to Congress.
Access to Genetic Testing
As mentioned above, navigating a rare disease diagnosis can require more than 6 years and 17 medical interventions, on average, after symptoms begin. These interventions can include hospitalizations, emergency room visits, out-of-state specialist appointments, and other health-related activities. With 70-80 percent of rare diseases being genetic in origin, timely and sustainable access to genetic diagnostic testing that rapidly informs appropriate patient care and treatment is fundamental to rare disease patients’ health and well-being.
Take Action
Support the Genomic Answers for Children’s Health Act
The RARE Foundation supports the Genomic Answers for Children’s Health Act (H.R. 7118), which will help shorten the diagnostic odyssey for children with Medicaid.
The legislation makes clear that whole-genome sequencing and whole-exome sequencing are covered Medicaid services, promotes awareness among stakeholders, and directs reports to Congress on barriers to care.
Newborn Screening
Diagnosis through newborn screening saves lives, improves healthcare outcomes, and reduces long term healthcare costs by allowing for detection and intervention at the earliest moment possible.
You can read about all the ways to support newborn screening at our newborn screening action center.
Related Updates
- EveryLife Foundation for Rare Diseases Emboldens Advocates and Urges Congress to Prioritize Patients During 15th Annual Rare Disease Week on Capitol Hill
- EveryLife submitted comments to FDA on Proposed Rule Involving Laboratory Developed Tests (LDTs)
- New Study Measures Economic Impact of Delayed Diagnosis of Rare Diseases
