Advancing Precision Diagnostics to Enable a National Rare Diseases Policy for Thailand

Public Sector, Medical Experts, and Private Sector Join to Elevate Precision Diagnostics and Expand Patient Access to Care

BANGKOK - Experts from the public sector, medical community, and private sector have united to propose practical pathways to improve rare disease care in Thailand. Focusing on integrating precision genomic diagnostics, streamlined patient referral networks, and cross-sector collaboration, they are advocating for robust national mechanisms, such as establishing a National Rare Disease Committee to elevate systematic and sustainable patient care. The experts highlighted these insights during the panel discussion "Advancing Precision Diagnostics to Enable a National Rare Diseases Policy for Thailand" during the Techsauce Global Summit 2026.

Key Highlights:

• Addressing Diagnostic Delays: More than 10,000 rare diseases impact people globally. In Thailand, an estimated 3.5 million people are affected by a rare disease. A significant portion of them face long delays in getting treatment or are misdiagnosed.
• Decoding via Genomics: Advanced genomic technologies can significantly improve diagnostic precision. This paves the way for targeted treatments and optimized clinical referrals.
• Driving National Policy: Leaders from different sectors underscored the urgent need for a unified national framework to integrate screening, diagnosis, referral pathways, and access to treatment for rare diseases.

Elevating Rare Disease Diagnosis Through Genomic Technology

There are over 10,000 rare diseases worldwide. In Thailand, as many as 3.5 million patients suffer from a rare disease. Studies indicate that nearly half of all rare disease patients have received an incorrect diagnosis at least once during their medical journey.

Dr. Sarawut Boonsuk, Director-General of the Department of Medical Sciences, Ministry of Public Health, said, "Timely and accurate diagnosis is such an important first gateway to transforming the lives of rare disease patients. The Department of Medical Sciences is moving forward with the opening of the National Center for Advanced Genetic Diagnostics under the 'From Lab to Life' initiative. This effort bridges genomic science with patient care, enhances newborn screening systems, and improves connections among hospitals with rare disease centers to ensure patients with abnormal results receive appropriate confirmation and care."

Prof. Dr. Vorasuk Shotelersuk, Director of the Center of Excellence for Medical Genetics at the Faculty of Medicine, Chulalongkorn University, added, "The biggest challenge for rare diseases is achieving earlier diagnoses. Ensuring frontline physicians can recognize and suspect these diseases at an early stage, streamlining referral systems, and promoting multidisciplinary expert collaboration mean patients receive targeted care while reducing the heavy burdens placed on patients, families, and the broader healthcare system."

From Existing Strengths to an Integrated Patient Ecosystem

Dr. Panadda Dhepakson, Senior Expert in Medical Sciences at the Department of Medical Sciences, emphasized, "Thailand already has a strong foundation in medical sciences infrastructure, genomic technology, and clinical expertise. Our primary challenge today is seamlessly connecting these distinct resources into a coordinated ecosystem covering screening, diagnosis, referral, and continuous follow-up to ensure patients receive timely, uninterrupted care. This requires strong national governance, clear operational roadmaps, and applying the best global practices. True success for rare disease management is not measured only by an increase in diagnostic tests performed, but by prompt, reliable diagnoses and equitable access to appropriate care."

AstraZeneca Advancing Clinical Research and Medical Innovation Access

Over the five years from 2021 to 2025, AstraZeneca invested over 4.5 billion baht in clinical research across Thailand. This included 80 clinical studies covering diverse therapeutic areas and expanding access to innovative treatment for over 1,800 patients nationwide.

Somrasa Pongpermpruek, Corporate Affairs Director at AstraZeneca (Thailand) Company Limited, said, "While rare diseases affect a small number of people, every single life holds equal importance. Innovation makes a meaningful impact only when patients receive a timely diagnosis and access to proper care. We are deeply committed to partnering with the government, healthcare professionals, patient organizations, and cross-sector allies to drive a healthcare system that ensures fair and sustainable access to diagnostics and treatment."

One example of this collaborative impact is AstraZeneca's partnership with the Nephrology Society of Thailand to address Atypical Hemolytic Uremic Syndrome (aHUS). This initiative successfully reduced the time needed to diagnose this severe immune-mediated condition from two to three months down to just two to three weeks.

Uniting Forces to Drive National Mechanisms for Rare Disease Care

Dr. Sarawut Boonsuk added, "An important next step for Thailand's public health system is to establish the National Rare Disease Committee. This initiative will unite public health agencies, academics, payers, patient representatives, and partners under a common direction, with clear roles, accountability and a practical national roadmap."

Prof. Dr. Vorasuk Shotelersuk further remarked, "Thailand already has strong medical knowledge, specialist expertise, and structural frameworks such as Genomics Thailand. Our urgent priority is shifting from reactive disease management to proactive precision health to evaluate risks and intercept complications before conditions escalate. Ultimately, a healthcare system's success is measured not only by cutting-edge technology but also by how effectively technology improves the quality of life for every patient equally. We must remember that 'rare' never means 'less important.'"

The discussion reinforced that precision diagnostics are much more than just the starting point for rare disease management. They are the foundation for developing comprehensive policies, optimized service delivery models, and cross-sector synergies among government bodies, medical professionals, the private sector, patient organizations, and civil society. This will ensure that all rare disease patients across every region can access appropriate care in a fair and sustainable way.

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