20200229-世经论坛-Global_Data_Access_for_Solving_Rare_Disease__A_Health_Economics_Value_Framework_28页_1mb

Summary of "Global Data Access for Solving Rare Disease: A Health Economics Value Framework"

Core Content

This white paper explores the potential economic and societal benefits of implementing federated data systems to address the challenges of rare diseases. Rare diseases, though named as such, affect 10% of the global population (approximately 475 million people), with 80% of them being genetic in origin. Despite the significant impact on individuals and healthcare systems, these conditions remain under-researched and under-treated, with less than 5% of rare diseases having available therapies.

The paper emphasizes that federated data systems offer a promising solution by enabling global access to genomic and clinical data while preserving local data autonomy and privacy. These systems are designed as meta-databases that connect but do not merge individual databases, allowing for secure and efficient data sharing across borders.

Main Points

1. Need for a Value Framework

• The lack of a comprehensive economic value framework has hindered investment in federated data systems for rare diseases.
• The paper aims to provide such a framework to evaluate the economic and health benefits of federated data systems.

2. Benefits of Federated Data Systems

The white paper outlines four key categories of benefits:

a. Diagnostic Benefit

• Federated systems can help identify pathogenic variants in rare disease genes and reclassify variants of unknown significance.
• They can shorten the diagnostic odyssey, which currently takes an average of seven years in the UK and six years in Australia.
• A timely diagnosis can reduce medical and non-medical costs, including travel and caregiver productivity loss.

b. Clinical Benefit

• A definitive diagnosis allows for targeted interventions and improved medical management.
• It also helps in enhancing health outcomes through appropriate therapies or management strategies.

c. Clinical Trial Benefit

• Federated systems can improve the efficiency and effectiveness of clinical trials by enabling larger, more diverse datasets.
• This can accelerate the development of new therapies and reduce the time and cost of research.

d. Personal Benefit

• Includes non-clinical outcomes such as emotional and psychological relief for patients and families.
• Provides opportunities for long-term planning and family support.

3. Economic Impact

• The UK NHS spends $19.6 billion annually on rare diseases, with 258,235 patients costing $4.4 billion over a 10-year period.
• Genomic data sharing can lead to cost savings and improved treatment outcomes, especially through drug repurposing and gene therapies.

4. Challenges and Gaps

• Data policy and regulatory barriers, such as GDPR and HIPAA, hinder direct data sharing.
• There are gaps in evidence regarding the full economic impact of federated data systems, particularly in terms of long-term savings and personal cost implications.

Key Information

• Global Rare Disease Population: ~475 million people.
• Time to Diagnosis: ~7 years in the UK, ~6 years in Australia.
• Cost of Diagnosis: In the UK, $2,190 per patient in the first year of the diagnostic odyssey.
• Cost of Drug Repurposing: ~$250,000 vs. ~$1.5 billion for traditional R&D.
• Orphan Drug Designations: 51% of current FDA approvals occurred after 2010, with 47% resulting from repurposing.
• Impact of Delayed Diagnosis: Families face emotional and financial burdens, including loss of productivity, mental health costs, and high medical expenses.

Conclusion

• Federated data systems are crucial for improving diagnosis, treatment, and management of rare diseases.
• They offer economic value through cost savings, accelerated research, and improved patient outcomes.
• A value framework is essential to justify investment in these systems and to guide their implementation across international healthcare systems.

Contributors and References

• Dana – Head of Precision Medicine, World Economic Forum.
• Arnaud Bernaert – Head of Health and Healthcare, World Economic Forum.
• Heather Renton – Parent to a daughter with a rare disease, Founder of SWAN Australia.
• Krissa Harris – Parent of a child with a rare disease.
• Lynsey Chediak – Patient with a rare genetic orthopaedic disease.
• Sarah and Kane Blackman – Parents of a son with Angelman syndrome.
• Durhane Wong-Rieger – Parent of two children with rare diseases, Founder of CORD.

Key Figures and Studies

• Dragojlovic et al. (2019) – Estimated diagnostic costs in Canada.
• Tan et al. (2017) – Highlighted the diagnostic odyssey in Australian children.
• US FDA Rare Disease Drug Repurposing Database – Shows the rise in repurposed therapies.

Final Note

• Investment in federated data systems is not only ethically justified but may also be economically viable.
• The value proposition of federated data systems is clear: they can correct misdiagnoses, improve clinical outcomes, reduce long-term costs, and enhance the quality of life for rare disease patients and their families.