Parental Consent Approaches for Newborn Whole-Genome Sequencing–Based Screening

This study aims to develop a standardized informed consent system for whole-genome sequencing (WGS)-based newborn screening (NBS) in Korea through a policy design approach grounded in the domestic legal and policy context. We conducted an integrated literature review of international norms, domestic legal frameworks, guidelines, and major overseas WGS-based NBS programs using a common analytical framework. To develop a consent model feasible in the Korean context, we also analyzed stakeholder evidence from parent interviews and a clinician survey focused on consent-related issues. The findings indicate that the current Korean legal and institutional framework does not adequately address long-term storage, reanalysis, recontact, and the transfer of decision-making authority as the child matures. Based on these findings, we propose a Korean informed consent model consisting of a staged consent pathway spanning antenatal, postnatal, and adulthood-related decision points; tiered consent options for the return of results; and safeguards against disadvantage or discrimination related to participation, non-participation, or withdrawal. The study further suggests that implementation will require broader legal and procedural clarification across the relevant regulatory framework, along with the continued development of education and counseling strategies.