Program on Rare Diseases
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“Rare” diseases are those diseases which are not known by health professionals, which do not attract interest from the pharmaceutical industry because the potential market is too limited. In Korea, rare diseases are defined based on the Korea Food and Drug Administration official notice, as those affecting fewer than 20,000 patients and for which no appropriate treatment or substitutable treatment modality is available. The low prevalence of rare diseases prevents competitive development of therapies in the open market. These results in a lack of information, research, diagnosis, treatment, and expert availability related to rare diseases, ultimately preventing patients from receiving needed health resources and services. A national intervention program including subsidies, information, and research is required.
To improve the quality of life of patients with rare diseases, as follows:
- Subsidize patients by reducing the burden of medical expenses
- Provide information about rare diseases
- Help regional patients by reducing indirect expenses
To promote research on rare diseases:
- Construct an infrastructure for rare disease research
- Lead basic research on rare diseases
- Establish clinical research networks
(3) Major Activities
The medical subsidy program on rare diseases was launched in 2001 as a subsidy program for medical expenses. Since then, the government has expanded support for patients with rare diseases and promoted a research program.
The subsidy program supports low-income patients with any of 134 specified rare diseases.
The website “Helpline” was established in 2006 to collect and distribute information about rare diseases (http://helpline.kdca.go.kr). The website is frequently visited by medical professionals,patients, and the public, and provides general information (epidemiology, diagnosis, treatment, etc)on 1,065 rare diseases, as well as on regional rare disease hospitals, contact addresses of patientsupportorganizations, and information about specific diseases.
We also funds a regional hospital network for genetic and rare diseases in four provincial areas (Chonnam, Chungnam, Kyongnam/Pusan, and Daegu/Kyonpook). This network is dedicated to organizing regional hospitals, improving genetic counseling, and educating the public. Many rare diseases, especially extremely rare diseases, are still not properly diagnosed, and many patients are suffering from financial difficulties in trying to obtain correct diagnosis and treatment of their disease. Since 2012, we have tried to establish diagnostic systems for those patients with extremely rare diseases by giving the appropriate disease code, and also supports this program. Seoul National University and Yonsei University hospital corporately operate this genetic diagnosis program for rare diseases. As of 2015, about 1,060 cases were diagnosed by this program.
The Korean Mutation Database (KMD, http://kmd.kdca.go.kr) is a country-specific database of human gene mutations that was established in September, 2009. The KMD consolidates genetic disease information in Korea. To date, the KMD contains 2,024 mutations representing 534 genes. We collected mutation data from diagnostic laboratories in Korea, and from journals published in Korea, over recent decades. The KMD is open to the public, without charge for searches, and it is open to individual researchers for the registration of mutation data.
Research into rare diseases is an urgent requirement, as many patients still lack a proper diagnosis and most of these are left without effective treatment. It is also an area where experts are themselves rare. The Genetic and Rare Disease Center tries to establish clinical networks for rare diseases, to collect clinical data for patients, increase knowledge of the pathophysiology and natural history of rare diseases, and finally diagnose these rare diseases. In 2015, clinical research networks for six diseases, including histiocytosis, amyloidosis, and Crohn's disease, were established.