The Korean undiagnosed diseases program: lessons from a one-year pilot project

Area of Science:

• Rare disease research
• Genomic medicine
• Clinical diagnostics

Background:

• The Korean Undiagnosed Diseases Program (KUDP) was established in 2017 as a one-year pilot project.
• It addresses the growing global interest in patients with undiagnosed rare diseases.
• The study aims to summarize project outcomes and identify research gaps in Korea.

Purpose of the Study:

• To summarize the results of the KUDP pilot project.
• To highlight unmet research needs for undiagnosed rare diseases in Korea.
• To evaluate the diagnostic yield of a structured workflow incorporating genomic technologies.

Main Methods:

• A diagnostic workflow was developed by the KUDP clinical expert consortium.
• Patients were categorized into four groups based on diagnostic challenges.
• Clinical assessment, molecular genetic analysis (including whole exome sequencing), biochemical assays, and pathological analyses were performed.

Main Results:

• 97 patients were enrolled, with 92.8% being pediatric and the majority presenting with neurological symptoms.
• Diagnostic assessments were completed for 72 patients, achieving a molecular genetic diagnosis in 38.9% (28/72).
• Whole exome sequencing diagnosed 28.8% (15/52) of cases, and one new disorder was identified.

Conclusions:

• The KUDP pilot study demonstrated a fair diagnostic success rate using an efficient workflow.
• Emerging genomic technologies are valuable for rare and undiagnosed diseases with multisystem involvement.
• The program identified unmet needs and potential for scientific discovery in rare diseases.