世界经济论坛-精准医学愿景声明：世界经济论坛全球精准医学理事会的产品（英文）-2020.5-46页_8mb

Precision Medicine Vision Statement Summary

Core Content

The World Economic Forum Global Precision Medicine Council has identified five key governance gaps that impede the implementation and widespread adoption of precision medicine globally. These gaps are:

1. Data sharing and interoperability
2. Ethical use of technology
3. Patient and public engagement and trust
4. Access, delivery, value, pricing and reimbursement
5. Responsive regulatory systems

The document outlines the vision for overcoming these gaps through policy recommendations, case studies, and frameworks for collaboration. It emphasizes the importance of global access to precision medicine and the need for equitable dissemination of tools and technologies to ensure that all populations can benefit.

Main Viewpoints

• Precision medicine is a transformative approach that leverages scientific processes, technology, and evidence to improve patient care by tailoring interventions to individual genetic and health profiles.
• The value of data standardization and interoperability is critical for unlocking the potential of precision medicine, as it enables cross-border collaboration and broad application of insights.
• Patient engagement and trust are essential to ensure that genomic and health data are used ethically and transparently, particularly in the context of commercial and law enforcement data access.
• Equitable access to precision medicine remains a challenge, with over half of the world's population still lacking access to these technologies.
• Responsive regulatory systems must be developed to ensure that the use of health data, especially from direct-to-consumer genetic services, aligns with ethical standards and protects patient rights.

Key Information

Governance Gap 1: Data Sharing and Interoperability

• Challenge: Differing data standards and lack of interoperability hinder the broad use of data across stakeholders.
• Focus Areas:
  • Demonstrating the value of standardizing disparate data to understand genotype-phenotype relationships.
  • Enabling interoperability across different standards to improve diagnosis and research.
  • Encouraging patient participation in data sharing to enhance the quality and quantity of data.
• Case Studies:
  • Undiagnosed Disease Network (UDN): A U.S. initiative that has successfully diagnosed a third of rare disease cases and shares genomic data through platforms like ClinVar and PhenomeCentral.
  • Genomics England (GeL): A UK program that collects 100,000 genomes and has led to the identification of actionable findings in 20–25% of rare disease patients.
  • Australian Genomics Health Alliance: A national initiative that aims to build genomic data infrastructure and collaborate internationally via PanelApp.

Governance Gap 2: Ethical Use of Technology

• Challenge: Ethical concerns around the use of genomic data, including informed consent, equitable distribution of benefits, and inclusiveness.
• Focus Areas:
  • Ensuring informed consent for data usage.
  • Promoting just distribution of benefits from precision medicine.
  • Enhancing inclusiveness and representation in genomic research.
• Case Studies:
  • UDNI (Undiagnosed Disease Network International): A global initiative that uses a federated data model to share anonymized data across 23 countries.

Governance Gap 3: Trust and Engagement

• Challenge: Building and maintaining trust in the use of health data, especially by patients and the public.
• Focus Areas:
  • Increasing awareness and understanding of genomics.
  • Addressing the impact of direct-to-consumer testing on trust.
• Case Studies:
  • Simons Simplex Collection: A global dataset of autism families that provides researchers with valuable insights into genetic and phenotypic relationships.
  • Fighting Blindness and Luxturna: A patient foundation that supported the development of the first approved gene therapy for retinal disease.

Governance Gap 4: Access and Fair Pricing

• Challenge: Ensuring fair access to precision medicine tools and technologies, as well as equitable pricing and reimbursement models.
• Focus Areas:
  • Ensuring evidence of safety and effectiveness for fast-track drug development.
  • Establishing a national patient registry.
  • Addressing patentability of biomarkers.
  • Creating global standards for diagnostic pricing models.
• Case Studies:
  • Genomics England has developed a robust bioinformatics infrastructure and a platform for genomic data interpretation.

Governance Gap 5: Responsive Regulatory Systems

• Challenge: Regulatory systems must adapt to the rapid advancements in precision medicine to ensure data privacy, patient rights, and ethical use.
• Focus Areas:
  • Ensuring data privacy and ownership.
  • Fulfilling obligations to patients.
  • Defining acceptable applications of precision health data and addressing DTC testing issues.

Summary and Recommendations

The Council recommends the following to accelerate precision medicine globally:

• Increasing awareness of the benefits of data standardization and fostering trusted collaboration mechanisms.
• Learning from past research to ensure inclusivity and ethical development.
• Building public and patient trust through transparent data use and engagement.
• Innovating IP protection regimes to incentivize investment in diagnostics.
• Funding and publicly reporting post-market clinical trials for fast-track therapies.
• Designing and implementing consistent regulatory frameworks that support precision medicine while protecting patient rights.

Ongoing Challenges

• Limited global access to precision medicine.
• Differences in data representation and ontologies across countries.
• Cultural resistance to data sharing.
• Lack of internal infrastructure in many countries to participate in cross-border initiatives.

Conclusion

The Global Precision Medicine Council aims to contribute to the global discourse by proposing scalable and ethical solutions to the five governance gaps. These solutions are designed to ensure that precision medicine can be implemented effectively and equitably worldwide, improving health outcomes for all populations.