Experts from various sectors have come together in Thailand to propose effective strategies aimed at improving the care of patients suffering from rare diseases. By focusing on the integration of precision genomic diagnostics, establishing efficient patient referral networks, and fostering collaboration across different sectors, they are advocating for the creation of a National Rare Disease Committee. This initiative is designed to enhance systematic and sustainable patient care. These discussions were prominently featured during the panel titled “Advancing Precision Diagnostics to Enable a National Rare Diseases Policy for Thailand” at the Techsauce Global Summit 2026.
Understanding the Challenge of Rare Diseases
Globally, more than 10,000 rare diseases exist, impacting an estimated 3.5 million patients in Thailand alone. Alarmingly, studies reveal that nearly 50% of individuals with rare diseases have received at least one incorrect diagnosis throughout their medical journeys.
Dr. Sarawut Boonsuk, the Director-General of the Department of Medical Sciences, Ministry of Public Health, emphasized the critical role of timely and accurate diagnosis as a gateway to improving the lives of these patients. He announced the impending launch of the National Center for Advanced Genetic Diagnostics, part of the ‘From Lab to Life’ initiative. This project aims to connect genomic science with patient care, enhance newborn screening systems, and improve coordination among hospitals and rare disease centers, ensuring patients with abnormal results receive appropriate confirmation and care.
The Need for Early Diagnosis
Prof. Dr. Vorasuk Shotelersuk, Director of the Center of Excellence for Medical Genetics at Chulalongkorn University, highlighted the significant challenge of achieving earlier diagnoses for rare diseases. He pointed out the importance of equipping frontline physicians with the ability to recognize and suspect these conditions early on. Streamlining referral systems and promoting collaboration among multidisciplinary experts can provide patients with targeted care while alleviating the strain on families and the healthcare system as a whole.
Building an Integrated Patient Ecosystem
Dr. Panadda Dhepakson, a Senior Expert in Medical Sciences at the Department of Medical Sciences, underscored the existing strengths within Thailand’s medical infrastructure, genomic technology, and clinical expertise. However, he noted that the main challenge lies in effectively connecting these resources into a cohesive ecosystem that encompasses screening, diagnosis, referral, and ongoing follow-up care. Achieving this requires robust national governance, clear operational roadmaps, and the adoption of best global practices. The true measure of success in managing rare diseases should focus on timely, reliable diagnoses and equitable access to appropriate care, rather than merely the volume of diagnostic tests performed.
Commitment to Clinical Research and Innovation
AstraZeneca has made significant investments in clinical research in Thailand, amounting to over 4.5 billion baht from 2021 to 2025. This funding has facilitated 80 clinical studies across various therapeutic areas, enhancing access to innovative treatments for more than 1,800 patients nationwide.
Somrasa Pongpermpruek, Corporate Affairs Director at AstraZeneca (Thailand) Company Limited, stated that while rare diseases may affect a small population, every individual’s life is equally valuable. They aim to ensure that innovation translates into meaningful impacts by providing timely diagnoses and access to proper care. AstraZeneca’s collaboration with the Nephrology Society of Thailand stands as a noteworthy example, successfully reducing the diagnosis time for Atypical Hemolytic Uremic Syndrome (aHUS) from two to three months to just weeks.
Establishing a National Rare Disease Committee
Dr. Sarawut Boonsuk highlighted the urgent need for Thailand’s public health system to establish a National Rare Disease Committee. This committee would unify public health agencies, academia, payers, patient representatives, and other stakeholders under a shared vision, with clearly defined roles and accountability, along with a practical national roadmap.
Prof. Dr. Vorasuk Shotelersuk reiterated the abundance of medical knowledge and structural frameworks in Thailand, such as Genomics Thailand. He stressed the need for a shift from reactive disease management to proactive precision health, allowing for early risk assessment and intervention to prevent complications from worsening. The effectiveness of a healthcare system should be judged not only by its technological advancements but also by the improvements in the quality of life it ensures for every patient, regardless of how rare their condition may be.
The Role of Precision Diagnostics in Policy Development
The discussions emphasized that precision diagnostics are not merely the starting point for managing rare diseases; they serve as the foundation for creating comprehensive policies, optimizing service delivery models, and fostering synergies across government bodies, medical professionals, the private sector, patient organizations, and civil society. This collaborative approach will ensure that all patients with rare diseases, regardless of their location, can access the appropriate care in a fair and sustainable manner.
In conclusion, the advancement of precision diagnostics in Thailand presents a transformative opportunity to enhance the care for rare disease patients. By fostering strong collaboration between various sectors and establishing a dedicated national framework, Thailand can improve patient outcomes, ensuring that no one is left behind in the pursuit of effective diagnosis and treatment.
Key Takeaways
- A National Rare Disease Committee is essential for coordinated efforts across sectors.
- Timely and accurate diagnoses are critical for improving patient outcomes.
- Collaboration among medical professionals, government, and private sectors leads to meaningful innovation.
- Establishing a cohesive ecosystem for rare disease management will enhance patient care.
- Early diagnosis and proactive health measures can significantly reduce burdens on families and healthcare systems.
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