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Addressing the Diagnostic Journey for Rare Disease Patients

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Avalere’s white paper draws on recommendations from a multi-stakeholder workshop to look at roadblocks and solutions for scaling sustainable solutions to address the diagnosis of rare disease.

On May 3, 2021, Avalere Health and Alexion Pharmaceuticals convened 15 individuals with strong backgrounds in rare disease, technology solutions and venture funding to discuss the diagnostic journey for rare disease patients and ways to scale sustainable solutions. The event featured multi-stakeholder input devoted to improving the experiences of rare disease patients and focused on the identification of optimal solutions to streamline the patient journey. The goals of the event were to generate discussion on the challenges and barriers to a scalable solution alongside opportunities to address these challenges in the short and long term that will potentially yield faster diagnosis of disease.

Focus Areas

To better understand the barriers to ensuring patients have access to a diagnostic solution, the Avalere team conducted qualitative research with workshop attendees to assess where opportunities for the future may lie. Conversations focused on where we are now with rare disease diagnosis, what does that look like from a technology, timing, and workflow perspective, and examples of fast and accurate diagnosis solutions are done at scale.

Domains identified with challenges and barriers included:

  • High Demand, Complex Needs
  • Clinician Education
  • Data Maturity and Regulatory Barriers
  • Payment, Coverage, and Reimbursement
  • Adoption and Workforce
  • Equity
  • Sustainability


Participants were excited about the value and shared urgency moving forward, especially appreciating the diversity of voices in attendance and the action-oriented nature of the conversation. Several noted this event was the first of its kind to focus on rare disease, addressing critical issues where there was clear consensus on some topics and divergence on areas that require attention.

  1. Use rare disease as an example, not an outlier in the healthcare system
  2. Take learnings from other examples of scale such as oncology
  3. Use of available tools with integration and adoption into clinical practice
  4. Recognize that fixing the healthcare system will assist rare disease patients
  5. Apply a global approach in any solution for rare disease

Call for Action

This is only the beginning of the discussion. The joint energy to address rare disease diagnosis is the foundation for how this work will continue. The cross-collaboration of individuals who attended this workshop identified 3 areas to advance the acceleration of the diagnostic journey.

  • Future Research: Although rare disease diagnosis may still feel new, diseases across the healthcare spectrum have faced similar challenges. Utilizing innovation, best practices, and health system collaborations we have seen in other areas—both healthcare and non-healthcare—it may be possible to accelerate diagnosis and spread best practices alongside the use of technology.
  • Policy: A sustainable approach to rare disease diagnosis necessitates an overwhelming demand for collective action among payers and other stakeholders to address coverage and payment barriers for patients (one of the largest challenges to appropriate diagnosis). Policymakers may consider a vehicle to build consensus (e.g., a consortium of payers) to discuss shared benefits of genomic sequencing and viable solutions to address the problem (e.g., a shared pool of genetic data).
  • Implementation: Urgency to engage the global community is an important factor for scaling solutions to underserved regions of the world. In many cases, a patient’s life is dependent on a known solution. If individuals across the globe are working to solve for this, shared experiences and learnings have an opportunity to extend a patient’s life. Especially in the cases of technology development and implementation, finding an optimal, scalable, and accurate technology is a shared goal among stakeholders in this community.

Download the white paper.

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Avalere Health is an Inovalon company, a leading provider of cloud-based platforms empowering data-driven healthcare. We believe in the power of data, informing actionable insights, delivering meaningful impact, and driving stronger patient outcomes and business economics.

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