Poster ID
P-31
Poster Title
Introduction of ELSI debate on the WGS-based Newborn Screening Program in South Korea
Authors
1. Jung Hyun Lee, 2. HyeonJeong Park, 3. Wonhoo Yoo, 4. Minjeong Kwon, 5. Hannah Kim*
1-4. Asian Institute of Bioethics and Health Law, Yonsei University, Seoul, Republic of Korea
5. Asian Institute of Bioethics and Health Law, Yonsei University, Seoul, Republic of Korea; College of Medicine, Division of Medical Humanities and Social Science, Yonsei University, Seoul, Republic of Korea
1-4. Asian Institute of Bioethics and Health Law, Yonsei University, Seoul, Republic of Korea
5. Asian Institute of Bioethics and Health Law, Yonsei University, Seoul, Republic of Korea; College of Medicine, Division of Medical Humanities and Social Science, Yonsei University, Seoul, Republic of Korea
Abstract
Background
Whole genome sequencing-based newborn screening (WGS-NBS) is an emerging genetic screening approach aimed at much earlier diagnosis and subsequent therapeutic intervention across a broader spectrum of diseases. In South Korea, a 2025 pilot study conducted by the Korea National Institute of Health WGS-NBS performed on 200 neonatal intensive care unit (NICU) patients. Building upon this experience, the national initiative is expanding in 2026 to include healthy newborns, launching a comprehensive, three-year implementation study to evaluate clinical utility and feasibility. As part of this effort, our team leads the research on the ethical, legal, and social implications (ELSI) study of the initiative, focusing on refining consent procedures, establishing a multidisciplinary expert consortium, and developing questionnaires to survey its acceptability among parents in the South Korean context.
Methods
We are currently developing educational resources targeting parents to facilitate informed consent, and genetic counselors to guide responsible conduct. Additionally, we are constructing a full-cycle regulatory workflow designed to institutionalize and oversee critical protocols, including: (a) a recruitment protocol designed to systematically engage participants; (b) a comprehensive informed consent and disclosure system of clinical uncertainties driven by updates to gene-disease curation; and (c) re-consent procedures to respect the autonomy of participants as they transition from infancy to adulthood.
Conclusion
The proposed framework will lay the groundwork for finalizing South Korea’s national guidelines for WGS-based NBS. Over the long term, our third-year research will expand into a comprehensive longitudinal analysis of the foreseeable medical, ethical, and societal challenges during the active nation-wide implementation. Overall, this poster highlights the three-year roadmap, focusing on the ethical governance and operational framework essential for sustaining the national initiative for better screening.
Acknowledgement
This research is supported by the 2025 ‘Whole Genome Sequencing–based Newborn Screening Pilot Study (2025-ER0701-00)’ and 2026 ‘Study of Whole Genome Sequencing-based Newborn Screening (2026-ER0806-00)’ funded by the Korea National Institute of Health, the Korea Disease Control and Prevention Agency.
Whole genome sequencing-based newborn screening (WGS-NBS) is an emerging genetic screening approach aimed at much earlier diagnosis and subsequent therapeutic intervention across a broader spectrum of diseases. In South Korea, a 2025 pilot study conducted by the Korea National Institute of Health WGS-NBS performed on 200 neonatal intensive care unit (NICU) patients. Building upon this experience, the national initiative is expanding in 2026 to include healthy newborns, launching a comprehensive, three-year implementation study to evaluate clinical utility and feasibility. As part of this effort, our team leads the research on the ethical, legal, and social implications (ELSI) study of the initiative, focusing on refining consent procedures, establishing a multidisciplinary expert consortium, and developing questionnaires to survey its acceptability among parents in the South Korean context.
Methods
We are currently developing educational resources targeting parents to facilitate informed consent, and genetic counselors to guide responsible conduct. Additionally, we are constructing a full-cycle regulatory workflow designed to institutionalize and oversee critical protocols, including: (a) a recruitment protocol designed to systematically engage participants; (b) a comprehensive informed consent and disclosure system of clinical uncertainties driven by updates to gene-disease curation; and (c) re-consent procedures to respect the autonomy of participants as they transition from infancy to adulthood.
Conclusion
The proposed framework will lay the groundwork for finalizing South Korea’s national guidelines for WGS-based NBS. Over the long term, our third-year research will expand into a comprehensive longitudinal analysis of the foreseeable medical, ethical, and societal challenges during the active nation-wide implementation. Overall, this poster highlights the three-year roadmap, focusing on the ethical governance and operational framework essential for sustaining the national initiative for better screening.
Acknowledgement
This research is supported by the 2025 ‘Whole Genome Sequencing–based Newborn Screening Pilot Study (2025-ER0701-00)’ and 2026 ‘Study of Whole Genome Sequencing-based Newborn Screening (2026-ER0806-00)’ funded by the Korea National Institute of Health, the Korea Disease Control and Prevention Agency.
Digital Poster