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🇰🇷 South Korea /Health & Science

South Korea Launches National Program for Newborn Genetic Screening

From Hankyoreh · () Korean

Translated from Korean, summarized and contextualized by DistantNews.

At a glance

News Named sources Ongoing story
  • South Korea is launching a national-led program to establish rational standards for newborn genetic screening.
  • The three-year program will screen 600 newborns annually for rare genetic diseases, aiming to improve survival rates.
  • Challenges remain, including the low positive rate of current tests and the need for ethical, legal, and infrastructural frameworks for genetic counseling and data protection.

South Korea is initiating a national-led initiative to develop rational standards for newborn genetic screening, aiming to improve the detection and treatment of rare genetic diseases. Starting this month, the National Institute of Health will spearhead the 'Korean Type Whole Genome-Based Newborn Screening Program,' a three-year project that will examine 600 newborns annually.

Our country has about 300,000 babies born each year, but only 0.2% are included in the program provided by the state, and the remaining 99.8% are left to the private market.

— Lee Beom-heeProfessor Lee Beom-hee of Seoul Asan Medical Center highlights the limited scope of the current state-provided newborn screening program.

This program targets infants under one month old suspected of having severe rare genetic disorders. It is expected to provide diagnoses within seven days, achieving up to a 50% diagnostic rate. The goal is to enable prompt, appropriate treatment for critically ill newborns, thereby increasing their survival rates. Currently, only a small fraction of newborns are covered by the state-provided program, with the majority relying on private market testing.

However, significant hurdles must be overcome. The current positive rate for genetic screening hovers around 1-2%, raising concerns about whether sufficient data will be gathered over three years to establish robust screening standards for the entire newborn population. Furthermore, the infrastructure for genetic counseling for parents remains underdeveloped outside a few major hospitals, posing a risk of psychological distress to families receiving potentially sensitive results.

It is essential to introduce a nationally led newborn whole-genome screening test with ethical and legal legitimacy domestically.

— Lee Beom-heeProfessor Lee Beom-hee emphasizes the need for a government-backed, ethically sound genetic screening system.

Ethical and legal considerations are also paramount. The program requires thorough deliberation on the scope of diseases to be screened, the return of results, parental consent, confirmatory testing, genetic counseling, and the protection of sensitive genetic information. Experts emphasize the necessity of a nationally led, ethically and legally sound genetic screening system to advance precision medicine and enhance the quality of life for future generations. Many parents have expressed willingness to participate if a trustworthy, state-led testing system is established.

Rather, many responded that they would actively participate if parents could receive a reliable testing system led by the state.

— Kim Han-naProfessor Kim Han-na of Yonsei University College of Medicine shares survey findings indicating parental willingness to engage with a state-led testing initiative.
DistantNews Editorial

Originally published by Hankyoreh in Korean. Translated, summarized, and contextualized by our editorial team with added local perspective. Read our editorial standards.

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