Rare Diseases, Collecting Genetic Data to Find Treatments... Government Confirms Pilot Project

Ministry of Health and Welfare Confirms Pilot Project for National Bio Big Data Construction

National Bio Big Data Construction Pilot Project Deployment Diagram

[Asia Economy Reporter Choi Dae-yeol] The government plans to establish bio big data by collecting clinical information and genomic data from a total of 10,000 patients, including 5,000 rare disease patients.

The Ministry of Health and Welfare, the Ministry of Science and ICT, and the Ministry of Trade, Industry and Energy announced on the 30th that they will recruit patients for genomic and clinical information collection as part of the national bio big data pilot project. This is a cross-ministerial project led by the Ministry of Health and Welfare and related ministries, and the government plans to conduct the pilot project for two years until next year to lay the foundation for building big data.

The government has been conducting the project through a consortium consisting of the pilot project steering committee, operating committee, secretariat, expert committee, and five government and government-funded research institutes. Since the first steering committee meeting held in March, three meetings have been held to finalize the pilot project plan.

Patients suspected of having rare diseases caused by genetic abnormalities or genetic-related backgrounds can participate in this pilot project after evaluation by specialized medical staff. Patients who underwent primary genetic testing within the existing system but tested negative, or those who were diagnosed through existing tests but show clinical symptoms different from usual, meet the conditions. Considering patient accessibility and medical experience, patients can register as participants after consultation with specialized medical staff and signing consent forms at 16 designated rare disease cooperation institutions nationwide.

Participating rare disease patients will have the opportunity to identify the causes of their diseases with a diagnostic reference report based on whole genome sequencing (WGS). Since participation is done under anonymized IDs, concerns about information leakage have been alleviated, according to the Ministry of Health and Welfare.

Im In-taek, Director of the Health Industry Policy Bureau at the Ministry of Health and Welfare, said, "It is estimated that over 80% of rare diseases are caused by genetic factors, and with recent advances in genomic analysis technology, related research is actively progressing. The more data we have, the better we can identify causative genes and aid in the development of treatments."

Professor Chae Jong-hee of the Rare Disease Center at Seoul National University Hospital said, "Diagnosis and treatment of rare diseases are complex and difficult, requiring national-level support and research. We expect that building big data this time will activate rare disease research and benefit patients and their families."

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