Recruiting 1,800 people by 2028... Research on rare diseases related to over 780 genes

Recruiting 1,800 people by 2028... Research on rare diseases related to over 780 genes

(Seoul = Yonhap News) Reporter Go Yoo-seon = The Korea Disease Control and Prevention Agency's National Institute of Health announced on the 7th that it is recruiting participants for 'whole genome sequence-based newborn screening research' to quickly detect and manage rare diseases in newborns.

This study is a research project to analyze the entire genome of normal newborns within 28 days of birth to detect and treat genetic diseases early and to verify the clinical usefulness of genome-based screening tests.

In Korea, newborn screening tests limited to specific diseases such as hypothyroidism have been conducted, but with the recent development of genome analysis technology, there is a growing demand for whole-genome tests that can diagnose more rare genetic diseases at once.

Accordingly, the National Institute of Health has selected diseases and genes (647 required and 136 optional) for newborn screening through a pilot project in 2025 and developed clinical guidelines.

The scale of newborn recruitment is 1,800 in total by 2028, starting with 500 in the first year of this year.

It will be conducted through six hospitals nationwide, including Asan Medical Center, Samsung Seoul Hospital, Sinchon Severance Hospital, Bundang Cha Medical Center, Sejong Chungnam National University Hospital, and Yangsan Pusan ​​National University Hospital.

Based on the research, the National Institute of Health plans to establish a Korean genome-based newborn screening system and secure the basis for introducing related policies by verifying diagnostic efficiency and clinical and economic utility.

Professor Beomhee Lee (research leader) of Asan Medical Center in Seoul emphasized, “Genome-based newborn screening is a new medical paradigm that can detect treatable rare genetic diseases early and initiate treatment before symptoms appear.” He added, “There is a need for the country to establish a multidisciplinary system and prepare a Korean-style screening operating system and clinical protocols.”