The Invisible Patient: Overcoming the Challenges of Rare Disease Identification

Rare disease identification is one of the most critical challenges in healthcare. For patients experiencing vague, overlapping symptoms, the journey to diagnosis can take years. Without specific screening tests or established guidelines, clinicians and patients alike often fail to "connect the dots," leading to a frustrating cycle of multiple referrals and misdiagnoses.

For newly discovered rare diseases, where awareness is limited, this problem is even more pronounced.

By understanding the patient’s symptom-based information journey, creating clear signposting to trusted resources, and collaborating with advocacy groups, we can empower patients and clinicians to make faster, more accurate diagnoses.

The Challenges: Why Rare Disease Identification is So Difficult

1. Varying and Overlapping Symptoms

Rare diseases often present as a complex mix of nonspecific symptoms—chronic pain, fatigue, neurological issues—that mimic common conditions.

• For Patients: Symptoms are often dismissed as stress, aging, or lifestyle-related issues, delaying care-seeking behaviour.
• For Clinicians: Without a clear diagnostic framework, symptoms are attributed to more common conditions. For example, early signs of Fabry disease may be misdiagnosed as migraines or irritable bowel syndrome.

2. Lack of Specific Screening Tests

Unlike common conditions with established biomarkers or diagnostic tests, most rare diseases lack reliable tools for early detection.

• Genetic Testing Gaps: Even when genetic testing is an option, it’s often underutilised due to cost, accessibility, or clinician awareness. Many clinicians don’t recognise when genetic testing is warranted, delaying diagnosis further.

3. Dismissal and Normalisation of Symptoms

Patients frequently downplay or normalise their symptoms, viewing them as unimportant or temporary. Without clear guidance, they may not articulate their concerns effectively during consultations.

• Impact: This leads to missed opportunities for early diagnosis and intervention, especially when symptoms are subtle or intermittent.

4. Limited Awareness for Newly Discovered Conditions

For newly identified rare diseases, awareness among healthcare providers and patients is minimal. With no established diagnostic pathways or guidelines, the burden of identification falls heavily on individual clinicians or researchers.

The Patient’s Symptom-Based Information Journey

Understanding the patient’s information-seeking behavior is critical to addressing these challenges. Rare disease patients often embark on a journey filled with uncertainty, misinformation, and dead ends.

Stages of the Information Journey:

1. Symptom Recognition: Patients experience persistent symptoms but often dismiss them or seek advice from unreliable sources.
2. Online Searches: Patients turn to the internet, where a lack of disease-specific resources often leads to misinterpretation or unnecessary worry.
3. Consultation Preparation: Without access to credible tools or guidance, patients may enter consultations with incomplete information, limiting the effectiveness of the discussion.
4. Multiple Referrals: Patients navigate fragmented healthcare systems, where specialists often fail to connect disparate symptoms to a rare disease.

The Need for Clear Signposting to Trusted Resources

Empowering Patients During Consultations

Providing patients with clear, trusted resources can:

• Help them understand their symptoms in context.
• Guide them to appropriate specialists, genetic testing options, or clinical trials.
• Equip them with the confidence to advocate for themselves during consultations.

Leveraging Digital Tools

• Symptom-Tracking Apps: Allow patients to document their experiences, creating a detailed history for clinicians.
• Educational Platforms: Offer tailored, symptom-based guidance and direct patients to relevant advocacy groups or testing options.
• AI-Powered Chatbots: Provide 24/7 support, helping patients interpret their symptoms and next steps.

The Role of Patients and Advocacy Groups

Why Collaboration is Key

Patients and advocacy groups are indispensable partners in the fight against diagnostic delays. Their lived experiences and networks can:

• Enhance awareness campaigns, ensuring messaging resonates with both patients and healthcare providers.
• Improve patient registries, incorporating real-world data that reflects diverse patient populations.
• Build trust within the community, encouraging more patients to seek care and participate in clinical trials.

Advocacy-Driven Solutions

• Educational Initiatives: Advocacy groups can co-create materials that help patients recognise red flags and understand the importance of genetic testing.
• Support Networks: Peer support programs give patients a platform to share experiences and guidance, reducing feelings of isolation.
• Clinical Trial Awareness: Advocacy groups can connect patients to research opportunities, increasing trial enrollment and diversity.

Strategic Recommendations for Rare Disease Biotechs and Healthcare Professionals

1. Foster Clinician Education: Develop CME-accredited programmes to train healthcare providers on recognising rare disease patterns and using genetic testing effectively. Embed decision-support tools into EMRs to flag potential rare disease cases based on symptom clusters.
2. Optimise Patient Registries: Create interoperable registries that combine clinical, genetic, and patient-reported data for comprehensive analysis. Use AI to analyse registry data for insights into patient populations and disease progression.
3. Leverage AI for Patient Identification: Implement predictive models to scan EMRs, claims data, and unstructured clinical notes for rare disease indicators. Build referral workflows that direct flagged patients to genetic testing or rare disease specialists.
4. Empower Patients Through Advocacy Partnerships: Collaborate with advocacy groups to co-design awareness campaigns, ensuring they address patient concerns and cultural nuances. Provide educational tools that help patients articulate their symptoms and concerns during consultations.

A Vision for the Future of Rare Disease Identification

The path to better rare disease identification requires collaboration, innovation, and a patient-first approach. Here’s what the future could look like:

1. Integrated Diagnostic Ecosystems: Systems where AI, genetic testing, and clinician workflows are seamlessly connected.
2. Patient-Centric Solutions: Tools and resources that empower patients to take an active role in their diagnostic journey.
3. Global Collaboration: Advocacy groups, biotechs, and regulators working together to create scalable, sustainable solutions for rare disease identification.

By aligning technology, education, and patient engagement, we can transform the diagnostic landscape, ensuring that no patient is left undiagnosed or unsupported.

Call to Action

It’s time for rare disease biotechs, clinicians, and advocacy groups to join forces. Together, we can shorten the diagnostic odyssey, empower patients, and bring life-changing therapies to those who need them most.

What steps is your organisation taking to tackle these challenges? Share your insights or connect to explore opportunities for collaboration.

#RareDiseases #PatientEngagement #DigitalHealth #AI #GeneticTesting #AdvocacyPartnerships #PharmaInnovation

Author

Rob Wyer, Managing Partner, swii.ch health | r.wyer@swii.ch

Rob is Managing Partner of swii.ch health, a rare disease patient engagement consultancy specialising in customer engagement and digital transformation in Life Sciences. Swii.ch provides specialised expertise in customer engagement insight, strategy and patient led design, digital transformation and excellence, programme management, and impact measurement.

Header image by Tom van Merrienboer on Unsplash