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Introduction to Policy Framework

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There has been growing activity at the UN level and different regional/country levels, such as the EU and Asia-Pacific Economic Cooperation (APEC), to develop policy platforms and frameworks to address rare diseases. Examples include: the UN NGO Committee for Rare Diseases; the European Union Commission; the National Plans for Rare Disease in EU Countries; and APEC.

Where possible, the Global Commission suggests that its policy recommendations be incorporated into existing local/regional frameworks and be considered during the development or review of Rare Diseases Plans, within the working plans of government bodies responsible for rare disease policy implementation, and through innovative frameworks of how the use of AI and technologies can disrupt healthcare delivery. In addition, the recommendations adhere to guidance outlined through the EU General Data Protection Regulation (GDPR).

Key Focus Areas

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Recommendations

Track 1
Empowering Patients and Families
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Government support for platforms for shared action across stakeholders
Governments should provide a platform for uniting patients, patient advocacy groups, healthcare professionals and policymakers to increase awareness and understanding of the issues patients face in rare disease diagnosis.
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Enable cross-country sharing of electronic medical records to improve diagnosis efficiency
Governments should find optimal ways for cross-country sharing of electronic medical records to increase diagnosis efficiency, while preserving patient privacy and enabling physicians to adopt these systems.
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Recognise benefits of cross-country rare disease research networks on best practice sharing
National healthcare systems and medical societies should recognise the benefits that cross-country rare disease research networks have on diagnosis and encourage national organisations to exchange knowledge and best practices.
Track 2
Equipping Frontline Providers with Tools for Diagnosis and Referral
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Standardization of diagnostic and referral protocols between Primary Care Centers and Centers of Excellence
National healthcare systems should issue guidance on the collaboration between Primary Care Centers and Centers of Excellence to ensure standardization of diagnostic and referral protocols within a common user interface.
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Development and implementation of a genomic sequencing strategy
Genomic sequencing strategy setting out how to screen more patients using sufficiently broad, targeted gene panels should be developed and implemented to support diagnosis of rare diseases with known interventions.
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Defined pathways that ensure access to diagnostic tools
Dedicated access pathways that account for the value of diagnostics should be developed and adequate funding for diagnostic tools should be available so that patients have timely and broader access to these technologies.
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Infrastructure that supports the development and implementation of next-generation sequencing (NGS)
Forward-looking vision on infrastructure investments, specifically supporting the development of next-generation sequencing (NGS) infrastructure, should be developed and implemented.
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Primary care technical training to incentivize adoption of novel approaches
The development of new training programmes with technical specifications should be incentivised to increase familiarity with novel diagnostic approaches, 'big data,' and artificial intelligence.
Track 3
Reimagining the Genetic Consultation
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Establishing regional Centers of Excellence and networks to speed up diagnosis
International, regional, and national public authorities should engage in activities that encourage and support the establishment of regional centers of excellence and networks that directly facilitate timely diagnosis and act as regional hubs for best practices in the diagnosis of rare diseases.
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Healthcare systems to improve coordination and standardization of clinical practice
National healthcare systems should aim to increase operational efficiencies in routine practice through better coordination and national standardization between healthcare professionals, geneticists, and specialists.
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Governments to issue plans to establish Centers of Excellence in support of diagnosis
Governments should issue clear plans to develop Centers of Excellence for rare diseases to support diagnosis and treatment across the full national or regional population.
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Ensure interoperability across established Centers of Excellence to optimize data sharing
National healthcare systems should not only ensure the availability of novel technologies, but also seek to address system interoperability across the healthcare system, particularly between Centers of Excellence for rare diseases.
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Support investment in data networks and connectivity to ensure uniform adoption of technologies
Governments should support investment in immature data networks and connectivity to support adoption of novel healthcare technologies.