04 Feb 2026
In the United States, approximately 25-30 million people live with a rare disease, accounting for nearly one in nine Americans. Half of these patients are children and a staggering 72% of rare diseases have an underlying genetic cause.
Though these diseases are individually scarce, collectively, they pose a considerable challenge to healthcare systems due to their complexity and the diagnostic hurdles they present. And despite their collective prevalence, with over 6,000 known rare diseases, they also present unique challenges for both patients and healthcare providers.
One of the most significant hurdles for rare diseases is the long diagnostic journey.
The current challenges and costs in diagnosing rare diseases
Rare disease patients typically face a 5- to 6-year “diagnostic odyssey”—often seeing multiple healthcare providers—before finally getting the clinical answers they need. On average, these patients:
- Receive up to five misdiagnoses
- Undergo many unnecessary tests, resulting in delayed treatment and disease progression
- Consult an average of 7.3 physicians before obtaining a diagnosis
To put this into context, a 2-year-old presenting with complex symptoms may experience repeated, potentially invasive testing until they are 7 years old—representing a critical window of childhood.
This diagnostic delay doesn't just prolong patient and family suffering and frustration; it also drives up healthcare costs through unnecessary procedures, ineffective treatments and hospitalizations instead of targeted therapies. One study estimated that avoidable costs related to a delayed rare disease diagnosis range from $86,000 to over $517,000 per patient, creating a substantial financial burden for both families and health systems.
Clinicians can also spend significant time (and effort) identifying and referring patients to multiple specialists as conditions may not fit neatly into one category. Patients seeing so many physicians before receiving a diagnosis also places a significant burden on healthcare system resources.
Provider challenges related to the diagnostic odyssey involved in managing rare disease cases include:
- Complex referral processes across multiple subspecialties
- Time-consuming insurance approvals and pre-authorizations, taking up significant administrative bandwidth
- Difficulty selecting appropriate tests, interpreting results and choosing the appropriate lab, especially for providers without genetics expertise
This human and economic toll highlights an urgent need for health systems to implement strategies that accelerate rare disease diagnosis and treatment.
Strategies for health systems to shorten the diagnostic journey for rare diseases
Health system leaders can play a critical role in reducing the diagnostic odyssey for rare disease patients by implementing five key strategies addressing current challenges and improving patient outcomes.
By focusing on the following strategies, health systems can significantly reduce the time to diagnosis for patients while aligning with the Quadruple Aim of healthcare: enhancing the patient experience, improving population health, reducing healthcare costs and improving provider work-life balance.
1. Enhancing patient care through genetic testing programs
Genetic testing is a key strategy to address the path to diagnosis faced by many patients with rare diseases, as it can significantly shorten the time to diagnosis while improving the patient experience. It can be a powerful tool that informs treatment for patients with rare diseases.
A molecular diagnosis can lead to an earlier, more specific diagnosis, help patients avoid unnecessary procedures and provide targeted, precision treatments. Genetic testing supports targeted treatments, improves patient outcomes and satisfaction, and reduces the number of unnecessary tests and hospitalizations. It also provides a sense of direction for patients and allows them to narrow focus on treatments and connect with others in the rare, genetic-driven disease community.
Health systems can develop comprehensive genetic testing programs that include a range of tests tailored to the needs of rare disease patients. While implementing these types of programs requires upfront costs, those costs are offset by savings gained from avoiding unnecessary tests and hospitalizations down the line.
To establish an effective genetic testing program, health system leaders should consider:
- Creating easy access to genetic counseling services
- Developing clear protocols for when genetic testing should be considered, taking into account professional society guidelines and payer policies
- Implementing streamlined processes for test ordering and results interpretation
- Providing ongoing education and support for healthcare providers on the latest genetic testing technologies and their clinical applications
2. Expanding genetic testing access through lab partnerships
To fully realize the benefits of genetic testing for rare diseases, health systems must make sure patients have access to advanced molecular diagnostics, clinical trials and the expertise to interpret complex results. This is where partnerships with labs with deep experience in genetic testing and research networks can be invaluable.
Collaborations with laboratories with strong genetic testing capabilities and research networks can significantly expand a health system's capabilities in rare disease diagnosis and management. These partnerships provide:
- Expertise in test selection, variant interpretation of complex genetic results and understanding of their clinical implications
- Opportunities for patients to participate in sponsored testing programs, research studies and clinical trials
- Access to innovative testing technologies and methods, from gene panels and exome sequencing to genome sequencing and novel biomarkers
These partnerships can enhance the accuracy and clinical actionability of test results, allowing patients to receive the most appropriate care. By leveraging the expertise of labs that offer these capabilities, health systems can expand their diagnostic capabilities without having to develop all the necessary expertise in-house, allowing them to be at the forefront of innovation in rare disease diagnosis and treatment.
In addition to improving patient outcomes, these partnerships enhance population health by advancing research and precision medicine. They allow health systems to be leaders in genomics while controlling costs through tailored testing strategies and shared resources.
When selecting partners, health system leaders should prioritize labs and networks with:
- Strong quality assurance processes
- A comprehensive test menu and proven track record in rare disease diagnostics
- Robust data sharing and collaborative research initiatives
- Comprehensive support for healthcare providers in results interpretation and follow-up care
The right partnerships not only improve diagnostic accuracy but also position health systems at the forefront of precision medicine, enhancing their reputation and attracting patients seeking specialized care.
3. Establishing centers of excellence for rare diseases
Even with advanced testing and lab partnerships, the complexity of rare diseases often requires a multidisciplinary clinical approach. Coordinating care across multiple specialists in a fragmented system can lead to additional delays and frustration for both patients and providers.
Establishing dedicated rare disease programs or centers of excellence can prove transformative in alleviating these frustrations. By concentrating expertise and integrating care, these centers provide a seamless experience for patients that accelerates diagnosis and treatment while improving provider efficiency.
Key elements of an effective rare disease center of excellence include:
- Ongoing research and clinical trial participation
- Streamlined referral processes and care coordination
- Regular case conferences and collaborative decision-making
- Integration of genetic counselors into multidisciplinary teams
- A core team of specialists with expertise in various rare disease areas
At a center of excellence, patients have access to a comprehensive team of geneticists, genetic counselors and disease-specific specialists working in tandem. Instead of being passed from provider to provider, patients are evaluated holistically from the start.
Coordinated testing and treatment recommendations are made collectively by the multidisciplinary team. Designating centers of excellence for rare diseases can concentrate expertise and provide patients with easier access to more coordinated care.
Referrals to expert centers have been shown to dramatically reduce the time to diagnosis. One study found that a referral to an expert center resulted in a correct diagnosis in just 55 days, compared to the typical 5-6 years.
From a health system perspective, centers of excellence drive efficiencies by reducing redundant testing and consultations and enhancing population health by advancing clinical expertise and research.
4. Using technology to ease administrative burden, support rare disease diagnosis and improve patient care
While genetic testing and centers of excellence are powerful strategies, their success hinges on providers knowing when and how to access them. Technology that providers can access directly in the electronic health record (EHR) workflow becomes essential in achieving this aim.
Clinical decision support tools, AI-driven platforms and EHR-integrated genetic test ordering can significantly ease the administrative burdens on healthcare providers. These technologies can help identify patients who may benefit from genetic testing, streamline the testing process and facilitate the interpretation of test results.
AI-driven platforms analyze patient data and clinical notes, flagging potential rare disease cases that may benefit from genetic testing or referral to a center of excellence. By surfacing these insights at the point of care, decision support tools prompt providers to take action quickly, streamlining the diagnostic process.
These tools can also guide ordering of appropriate genetic tests based on the patient's symptoms and family history. By connecting to lab interfaces and clinical guidelines, they help make sure the right test is ordered up front, preventing delays from inappropriate orders.
From a health system standpoint, decision support reduces administrative burdens on providers. It minimizes time spent on prior authorizations by recommending tests aligning with payer policies. And by accelerating rare disease diagnosis, it supports cost savings by reducing unnecessary utilization.
Technologies to consider investing in include:
- EHR-integrated genetic test ordering systems
- Clinical decision support tools integrated into EHRs
- Telemedicine platforms to improve access to rare disease specialists
- AI-driven platforms for patient risk stratification and case prioritization
5. Developing comprehensive rare disease education and support programs
To drive successful rare disease initiatives, health system leaders should prioritize education and support for both healthcare providers and patients. This includes:
- Development of clear clinical pathways and referral guidelines
- Regular training sessions on rare disease recognition and management
- Patient education materials and support groups
- Collaboration with patient advocacy organizations
By fostering a culture of continuous learning and patient-centered care, health systems can improve both patient and provider satisfaction while enhancing overall care quality.
The impact of comprehensive rare disease strategies on the Quadruple Aim
The strategies outlined above not only improve the diagnosis and treatment of rare diseases but also address the Quadruple Aim:
- Patient experience. Reducing the time to diagnosis and providing more targeted and effective treatments, health systems enhance patient satisfaction and outcomes along with enhanced care coordination and quality
- Population health. Early diagnosis and intervention can prevent disease progression and improve long-term health outcomes for rare disease patients and their families. Implementing genetic testing programs and establishing centers of excellence improves community health by allowing more patients to receive appropriate and timely care
- Cost efficiency. Reducing unnecessary tests, hospitalizations and procedures can lead to significant cost savings for both families and health systems by delivering faster, more accurate diagnoses
- Provider well-being. Streamlined processes, reduced administrative burdens, better support systems through centers of excellence and technological solutions, and improved diagnostic capabilities can alleviate provider frustration and burnout, leading to increased job satisfaction and work-life balance
Leading the way in rare disease patient care
As science continues to advance our understanding of rare diseases, health systems that take a comprehensive approach to precision medicine and embrace these strategies will be well positioned to lead the way in providing exceptional care for rare disease patient populations. The journey to diagnosis for rare disease patients may be complex, but with the right strategies, we can significantly reduce the odyssey and pave the way for better patient outcomes.
Genetic testing programs, focused and collaborative laboratory partnerships, centers of excellence, supporting technologies and educational programs not only address the immediate challenges of rare disease diagnosis but also lay the foundation for a more efficient, effective and patient-centered healthcare system.
Collectively, these strategies position health systems as leaders in an area of critical need. For the millions impacted by rare diseases, this leadership can make all the difference in minimizing the diagnostic odyssey.
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