Expansion of Genetic Counseling Support for Rare Diseases... Designation and Operation of Specialized Institutions in Local Areas

Ministry of Health and Welfare Establishes and Implements the "2nd Comprehensive Plan for Rare Disease Management (2022~2026)"

[Asia Economy Reporter Jo In-kyung] To systematically manage the quality of life of patients with rare diseases, which occur in more than 50,000 people annually in Korea, periodic surveys will be conducted by region and disease type. Considering that over 80% of rare diseases are genetic disorders, risk factor management for patients and their families will be strengthened, and support such as genetic counseling for prevention and early response will also be provided.

The Ministry of Health and Welfare announced on the 28th that it has prepared and will implement the "2nd Comprehensive Plan for Rare Disease Management (2022?2026)" containing these details.

This second comprehensive plan follows the first mid- to long-term plan (2017?2021), which was established and implemented from 2017 after the enactment of the Rare Disease Management Act at the end of 2015. While the main focus areas related to rare diseases so far have been "diagnosis and treatment," the next five years will emphasize not only the medical field but also "improving the quality of life of patients and their families," pursuing 10 strategic tasks and 26 detailed tasks.

The Ministry of Health and Welfare will first revise the designation requirements so that capable medical institutions can be designated as rare disease specialized institutions and organize them into a "regional and specialized institution" system. Specialized institutions equipped with personnel and facilities for diagnosis, treatment, and management of rare diseases will be designated by region to support early diagnosis of rare diseases for medical institutions within each area and to provide education. This is urgent because many rare disease specialized institutions are located in the metropolitan area, making it necessary to improve medical accessibility for patients outside the metropolitan area. Plans are also in place to designate "specialized institutions" that perform deliveries and organ transplants for rare disease patients.

Additionally, to activate preventive diagnostic management for rare diseases, the Ministry will revise qualification requirements for medical institutions and personnel performing genetic counseling and specify the operational plan for the "Genetic Counseling Support Project." To increase early diagnosis rates, the scope of the diagnostic support project, currently applied only to 185 ultra-rare diseases, will be expanded, and an expert advisory group will be operated to assist in interpreting diagnostic results.

They will also identify the status of procedures, treatments, and pharmaceuticals by disease for rare disease patients. Through this, they will check the status of non-reimbursed health insurance items and the level of patients' medical expenses burden and review improvements to the reimbursement registration system for treatments. The composition of the expert committee responsible for reviewing the designation of nationally managed rare diseases will be diversified, and detailed registration criteria changes and review procedures after designation, as well as management plans for undesignated and pending diseases, will be revised.

Surveys will be conducted to improve patients' quality of life, distinguishing between common areas and disease-specific characteristics to identify policy priorities and prepare response tasks. While improving the operation system of shelters for patients and families, online psychological counseling, rehabilitation treatment, and other patient and family support content will be expanded, and opportunities for communication through self-help groups will be provided to offer emotional support systems. Furthermore, to minimize cases where schools or the Military Manpower Administration cannot respond due to lack of knowledge about rare diseases, awareness campaigns will be conducted and specialized information provided.

In addition, through cross-ministerial cooperative research projects to overcome rare diseases, research covering the entire cycle from identifying causes and developing core technologies to clinical treatment stages will be supported. A database system for clinical information by disease, medical infrastructure and personnel, and researchers will be established, and experts with specialized capabilities in each disease field will be trained.

Park Hyang, Director of Public Health Policy at the Ministry of Health and Welfare, said, "Rare diseases are mostly genetic disorders that are difficult to diagnose and treat, and many treatments have not been developed or are expensive. We hope this plan will create a virtuous cycle from the previously segmented processes of research, diagnosis, treatment, and management, providing practical help to improve the quality of life for patients and their families."

This content was produced with the assistance of AI translation services.