The Global Commission’s 2024 End of Year Report, “From Idea to Action: Accelerating Rare Disease Diagnosis,” Highlights Innovative Solutions and Recommendations to Accelerate Rare Disease Diagnosis in Children

The Global Commission is proud to announce the release of its 2024 end of year report, “From Idea to Action: Resource Compendium for Accelerating Rare Disease Diagnosis.” This report offers innovative solutions and actionable recommendations to overcome diagnostic barriers, aiming for timely and accurate diagnoses for children with a rare disease. Featuring 10 exemplary case studies from organizations around the world, it highlights the creativity and passion of rare disease advocates, policymakers, healthcare providers, and researchers. By leveraging technology, fostering global collaboration, and engaging governments, these organizations provide an adoptable roadmap for the global rare disease community to accelerate diagnosis efforts.

Inspiring Work from Rare Disease Champions

About 70% of rare diseases – which affect 300 million people around the world – begin in childhood. It is estimated that it takes an average of five years to receive an accurate diagnosis, even in countries with strong health systems. This lengthy and difficult process is referred to as the diagnostic odyssey, and it remains one of the most serious challenges for families confronting the possibility that their child may have a rare disease.

The report features case studies from Australia, Brazil, Democratic Republic of Congo, Ghana, Japan, New Zealand, Singapore, the Philippines as well as initiatives with global reach. The creativity, passion, and ingenuity of rare disease champions worldwide – individuals and organizations fighting for children living with a rare disease – is truly inspiring. These innovators are driving change within vastly diverse socio-economic contexts, resulting in solutions that reflect each country’s unique barriers to diagnosis.

Despite these differences in settings and contexts, the rare disease community can certainly learn from their success, as several cross-cutting themes have emerged as critical: the transformative power of technology in accelerating diagnosis, the value of global collaboration within the rare disease community, and the importance of government engagement for sustainable change.

Innovative Solutions to Overcome Barriers to Diagnosis

The report highlights several innovative solutions that have been developed to overcome common barriers to rare disease diagnosis:

• Leveraging Technology: Advances in technology, such as genetic testing and AI-driven diagnostic tools, are making diagnosis more accessible and affordable.
• Understanding and Addressing Community Needs: Organizations that engage with and understand the needs of families have been successful in accelerating diagnosis.
• Building Tailored Training Programs for Health Providers: Training programs that equip health providers with the knowledge to recognize rare diseases are crucial.
• Generating Data to Drive Policy: Data generation is essential for advocating policy changes that support rare disease diagnosis.

Innovations in Diagnosis: Ingredients for Success

The 2024 report identifies 10 key ingredients for successful innovations in accelerating the diagnostic odyssey. These collectively form a powerful framework for driving successful innovations in rare disease diagnosis. By integrating these elements, the community can create effective, sustainable, and adaptable solutions that improve outcomes for children with rare diseases worldwide:

1. Driven by Passionate Advocates: Perseverance of rare disease champions is vital to the projects’ success given long time horizons to achieve impact.
2. Co-Design with Patients and Families: Involving patients and families throughout the development process made the solutions more effective.
3. Elevate the Patient Voice: Lived experience of people with rare diseases and families are integral to strengthen rare disease policies.
4. Reflect the cultural context: A deep understanding of cultural practices, beliefs and norms led the community to adopt the solutions more readily.
5. Provide holistic, cross-sector support: Efforts considered broader needs beyond diagnosis.
6. Engage government early: Early government engagement ensured policy makers’ concerns were addressed and set the solutions’ foundation for sustainability.
7. Generate data to enable decision-making: Building evidence supported advocacy for policy change.
8. Collaborate across borders: Expertise from other countries inspired local innovations.
9. Benefit multiple stakeholders: Addressing varied needs garnered more champions and visibility
10. Don’t Reinvent the Wheel: Leveraging existing resources and technology accelerated innovation and implementation.

Recommendations

From high-income countries to developing countries, innovation is happening in every corner of the world. These success stories aim to inspire the global rare disease community to take action in ending the diagnostic odyssey for children. To further accelerate rare disease diagnosis in children, the 2024 report offers the following recommendations:

• Generate Greater Awareness: Build a stronger knowledge base on the diagnostic odyssey and solutions to accelerate diagnosis.
• Promote Innovation: Foster a collaborative environment that integrates families’ lived experiences and leverages advances in science and technology.
• Drive Greater Investment in Diagnosis: Highlight the economic and societal benefits of early diagnosis to attract more funding and support.

Learn More and Add to Our Resource Compendium

The Global Commission aims to inspire the rare disease community to consider similar innovations as they strive to speed up diagnosis and encourages them to contribute to our Resource Compendium by reaching out to info@globalrarediseasecommission.com. For more information and to access the full 2024 report, please visit here.

Acknowledgement

The Global Commission extends its heartfelt gratitude to everyone who contributed their time and expertise to the development of this report. Special thanks go to the leaders of the initiatives featured in the 10 case studies for their generosity and dedication: African Rare Diseases International, Cas dos Raros, Foundation 29, Global Nursing Network Rare Diseases, NPO ASrid, Rare Disease Ghana Initiative, Rare Disorders NZ, UTOPIA and Wilhelm Foundation. This report also benefited greatly from the support of the Global Commission’s Working Group: colleagues from EURORDIS, Rare Diseases International, Sanofi, Takeda and Rabin Martin.