World Vision Launches 'Genetic Counseling Service' in Partnership with Korea Rare Disease Foundation

Comprehensive support measures needed, including not only national medical cost assistance but also genetic counseling, research, and special education

# Jeong (male, 26 months old) was unable to hold up his head or breathe spontaneously even after 8 months of age. Jeong’s parents visited renowned university hospitals and underwent expensive genetic tests such as chromosome analysis, genetic testing, and EEG, but could not determine the exact cause. Due to anxiety that these symptoms might also appear in their second child, Jeong’s parents were unable to plan another pregnancy.

Eventually, Jeong’s family discovered through the “Genetic Testing and Genetic Counseling Service” supported by World Vision and the Korea Rare Disease Foundation that Jeong was suffering from a rare disease called “Timothy syndrome.” Through this service, not only Jeong but also his parents received genetic counseling, and Jeong’s mother was able to overcome her anxiety about pregnancy after being informed that there was a 50% chance of having a healthy second child.

The last day of February every year is “World Rare Disease Day”... From diagnosis to expensive treatment costs, rare disease patients and their families suffer great economic and psychological distress

The last day of February every year is World Rare Disease Day. Initiated by the European Rare Disease Organization, World Rare Disease Day was established on the last day of February because February 29 occurs once every four years, symbolizing the rarity of rare disease patients. Due to the small number of patients, many face difficulties in diagnosis, treatment, and the high costs required for treatment. In fact, about 86% of rare disease patients in Korea take approximately 3.3 to 4.5 years to receive a confirmed diagnosis, spending an average of 5.5 million to 12.4 million KRW on medical expenses alone.

In response, the Korean government designated 926 rare diseases as nationally managed diseases in 2018 and expanded the list to 1,017 designated rare diseases last year, actively providing medical cost support. However, experts point out that support for rare diseases should not be limited to medical cost assistance but should include comprehensive attention and support such as genetic counseling, research, special education, and social welfare.

Kim Hyun-joo, director of the Korea Rare Disease Foundation, urged attention to rare disease patients, stating, “Due to the lack of government institutional support such as code creation and reimbursement for genetic counseling services necessary for rare disease management and prevention, genetic counseling services are not being provided to patients and families in medical settings.”

World Vision, an international relief and development NGO helping vulnerable children, is the only organization supporting the Korea Rare Disease Foundation... easing the economic and psychological burdens of low-income families with rare disease children

World Vision, an international relief and development NGO, has been the only organization supporting low-income families with undiagnosed rare disease children since 2016. To this end, it selected the Korea Rare Disease Foundation, which began supporting genetic counseling services domestically for the first time in 2012, as a partner organization. Currently, the Korea Rare Disease Foundation operates genetic counseling clinics at Seoul Metropolitan Children’s Hospital and Daejeon Konyang University Hospital, providing genetic testing and counseling services to alleviate the economic and psychological burdens of low-income families with rare disease children.

From 2016 to 2019, World Vision supported the genetic counseling and genetic testing services provided by the Korea Rare Disease Foundation with a total of 417 million KRW, offering genetic testing and counseling services to 473 rare disease patients and high-risk family members. Through this project, 191 of 397 rare disease children received expensive genetic testing benefits, were diagnosed with rare diseases, and became eligible for health insurance benefits. They were able to understand information about their diseases and receive appropriate treatment, preventing the hereditary transmission of the diseases.

Kim Soon-yi, head of World Vision’s Domestic Operations Headquarters, said, “In addition to genetic counseling services, World Vision is carrying out various projects to help rare disease children’s families in blind spots, such as customized assistive device support for rare disease children, cochlear implant support for hearing-impaired children, and dental treatment support for rare disease children.” She added, “We will continue to carry out necessary projects for them and strive to establish government policies and systems.”