South Korea expands newborn genetic screening and proposes national rare‑disease center

South Korea is launching a state‑led newborn genomic screening program that will test about 600 infants each year for severe rare diseases. The initiative, coordinated by the Korea National Institute of Health (NECA), aims for a diagnostic turnaround within seven days and an expected detection rate of up to 50 %. Officials stress the need for ethical, legal and privacy safeguards as the program expands beyond the current 0.2 % coverage of newborns.

Patient advocate Han Seong‑min, who has lived with the rare neuromuscular disorder Duchenne muscular dystrophy for over five decades, has filed a petition calling for the creation of an independent National Rare‑Disease Center. He cites repeated treatment failures, inadequate hospital support and tragic deaths of other patients as evidence that a dedicated center offering 24‑hour care and coordinated services is essential for rare‑disease patients to live independently.

Both efforts reflect growing pressure in South Korea to centralise rare‑disease diagnosis, treatment and counseling under a unified, publicly funded framework.