The government’s “integrated diagnostic support project for rare diseases,” expanded in 2023, has tripled the number of its beneficiaries compared to 2022 while nearly halving their diagnosis time.

The Korea Disease Control and Prevention Agency (KCDA) announced the project's results on Thursday.

The project supports genetic testing for hereditary ultra-rare diseases. It has been upgraded to residence-centered, integrated diagnosis support for active preventive management of pediatric patients and families as one of the government's innovation action plans since 2023.

In particular, it has expanded the scope of diagnostic support for children and adolescents by including rare genetic diseases other than ultra-rare diseases among the diseases targeted for diagnostic support. It includes patients and their families and beneficiaries who get tests.

It also established a dedicated diagnostic support function for people outside of the greater Seoul area so that patients suspected of having a rare disease can be diagnosed within the metro region without traveling long distances.

As a result, the number of people supported by the diagnostic support program this year totaled 701, nearly tripling from 245 in 2022.

Considering that 80 percent of rare diseases are hereditary, with symptoms beginning in childhood, and it is difficult for children to move from their place of residence, it activated diagnostic referrals for children in non-metropolitan areas, resulting in a 47 percent increase in non-metropolitan support and a 15 percent growth in support for pediatric rare diseases compared to 2022, the agency said.

Besides, for infants and young children who have difficulty securing blood vessels, the agency introduced a method of collecting blood from the heel, like the newborn screening test, which proved successful in diagnostic tests and increased the ease of collecting samples from infants and young children.

"Significantly, we have established a diagnostic support system that can overcome the problem of biased diagnostic infrastructure and allow patients with suspected rare diseases to be diagnosed early in any region," KCDA Commissioner Jee Young-mee said. "We will continue to support efforts to improve access to treatment for rare diseases."