Current Status of Rare Disease and Its Treatment

Despite 50,000 new rare disease diagnoses each year, at least one million patients remain undiagnosed or undefined.

Status of Patients with Rare Diseases in Korea

According to the published statistics on the incidence of rare diseases, more than about 50,000 new patients are diagnosed each year (as of 2021). However, it is estimated that at least one million patients are suffering from rare diseases that have not yet been defined by modern science or are undiagnosed due to economic reasons.

Diagnosis and Treatment of Rare Disease

Rare diseases are difficult to diagnose due to the lack of relevant information and experts. Moreover, during early stages, symptoms may be absent, misunderstood, or confused with other diseases.

As a result, some patients with rare diseases (14.72%) took more than 3 years to be diagnosed, and 16.4% were reported to have visited 4 or more hospitals before receiving their final diagnosis.

In particular, patients with ultra-rare diseases often have similar symptoms and may go through numerous medical institutions for a correct diagnosis, leaving them with financial and emotional burden.
Since most rare diseases are genetic diseases, diagnosis is made by clinical findings and appropriate genetic tests.

However, patients face additional difficulty because they are often not supported by insurance. Due to the limits of medical knowledge and science, around 60% of rare diseases remain undiagnosed.

Even after the final diagnosis, treatment exists for only 10% of the rare diseases. Most patients hope for the development of treatments or cures. Even if a treatment does become available, patients and families suffer from the cost of medical expenses because they are not supported by insurance in most cases. According to the survey, one of five rare disease patients spend more than half of their earnings on medical expenses and some (4%) patients do not receive medical treatment because of the financial burden.

Status of Korean Government Support on Rare Diseases

Health authorities are carrying out a variety of support projects to ease the financial burden of families with rare diseases and to improve their quality of life.

It provides a special insurance program that covers medical expenses, now enabling the patients to pay only 10% of the total medical expenses. It also provides a genetic diagnosis support program for patients suspected of suffering from ultra-rare diseases. In order to provide improved quality of medical services and earlier diagnosis, the “1st Comprehensive Rare Disease Management Plan (2017 – 2021)” has been implemented. And Currently, the “2nd Comprehensive Plan for Rare Disease Management (2022 ~ 2026)” is being promoted.