Closer Diagnosis for Rare Disease Patients in Non-Metropolitan Areas

An Initiative to Expand Diagnostic Support Through a National Project

A Breakthrough Diagnostic Support for Rare Disease Patients

In South Korea, rare diseases are defined as conditions affecting fewer than 20,000 people. These conditions often present significant diagnostic challenges due to their diverse manifestations and genetic heterogeneity. However, recent advances in genome sequencing (GS) technology have brought new hope to the rare disease diagnostic landscape.

Launched in 2023, the Korean Regional Rare Disease Diagnostic Support Program (KR-RDSP) represents an innovative pilot initiative that provides centralized genomic testing services to patients living in 11 regional centers across Korea outside the urban Seoul area. This program specifically aims to improve healthcare accessibility and reduce diagnostic time for patients in regions where diagnostic resources are limited.

Research Results: Impressive Diagnostic Yield and Efficiency

In this initial pilot study involving 400 patients with suspected rare diseases, the results were highly encouraging:

• Achieved an overall diagnostic rate of 36.3% (145/400)
• 4.8% of diagnosed patients had variants that could not have been identified using conventional testing methods
• Reports were delivered with a rapid turnaround time of ≤35 days (average: 29.6 days)
• Family genetic testing helped reclassify 31.7% of uncertain variants, improving diagnostic accuracy

What’s particularly noteworthy is that patients could access cutting-edge genomic testing through their regional centers without traveling to major hospitals. This represents a significant benefit for rare disease patients who often face mobility challenges.

Case Studies: The Value of Genome Sequencing

In one illustrative case, an 18-year-old female patient with suspected CHARGE syndrome remained undiagnosed for 17 years despite previous karyotyping, chromosomal microarray, and even exome sequencing. Through this program’s genome sequencing approach, a specific deletion in the CHD7 gene was finally identified, providing a definitive diagnosis.

In another case, an 8-year-old boy with a suspected neurodegenerative disorder was found to have a deep intronic variant in the DNM1 gene—a type of variant that would be exceptionally difficult to detect using conventional testing methods.

Benefits for Both Patients and Healthcare Providers

The success of this program has translated into tangible benefits beyond technical achievements:

1. Reduced Financial Burden: 83 diagnosed patients became eligible for South Korea’s “Special Exemption for Rare Diseases” program, which covers 90% of their medical expenses.
2. Fewer Unnecessary Tests: Accurate diagnosis helps avoid unnecessary additional testing and treatments.
3. Enhanced Regional Healthcare Capacity: Regional rare disease centers gained access to state-of-the-art genomic diagnostic technology.
4. Reduced Diagnostic Delay: During the program, the average time from symptom onset to diagnosis was 4 years, which the centralized system demonstrated in the program clearly had the potential to significantly shorten diagnostic delays.

Improved Healthcare Accessibility and Future Outlook

The most significant impact of this research is that it opened access to advanced genomic testing for all patients regardless of geographical location. Even patients who find it difficult to travel to major cities like Seoul can now receive top-tier diagnostic services through their regional centers.

A satisfaction survey among participating regional centers revealed that all respondents emphasized the importance of continuing the program, with 88.8% expressing satisfaction with the results. Building on this success, the program has been approved to continue in the following year.

Conclusion: A New Horizon for Rare Disease Diagnosis

The Korean Regional Rare Disease Diagnostic Support Program has demonstrated an innovative model that utilizes genome sequencing technology to provide accurate diagnoses for rare disease patients while addressing regional disparities in healthcare accessibility. This approach contributes to improving patients’ quality of life, reducing healthcare costs, and expanding our understanding of rare diseases.

Our healthcare service is committed to utilizing these cutting-edge genomic diagnostic technologies to provide faster and more accurate diagnoses for patients suffering from rare diseases. If you have symptoms that might suggest a rare condition, please don’t hesitate to consult with us.

Interested in our rare disease diagnostic services?
Contact us for more information about how we can help you.

This article is based on the research “Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program” published in the Human Mutation journal.