임상 전장유전체 분석 이차발견 결과 반환: 법·윤리적 제언

Abstract

This study explores legal and ethical issues surrounding the return of secondary findings (SFs) from Whole Genome Sequencing (WGS) and provides recommendations by clinical stages. While SFs provide medical utility, they entail complex issues such as psychological burden on patients, disclosure to family, protection of privacy, and consent for vulnerable populations. From this perspective, it is neccesary to review whether the current legal framework in South Korea can regulates the return of secondary findings. To address this, the researchers conducted literature review and comparative legal and political analysis for legal conceptualization and examined ethical issues such as patient autonomy, the balance between the right to know and the right not to know, and protection of vulnerable groups including minors, mainly focusing on the American College of Medical Genetics and Genomics (ACMG), the UK National Health Service (NHS), and the European Society of Human Genetics (ESHG). The findings propose a procedural policy based on a three-stage clinical framework. In the first stage, which involves pre-test counseling and prior consent, comprehensive consent is obtained by providing sufficient explanation about the possibility of secondary findings and subsequent management, while ensuring the patient's explicit right to opt-in and opt-out. In the second stage, which covers test execution and result derivation, the focus is on selecting pathogenic variants according to international standards, returning results verified by a multidisciplinary team, and providing professional genetic counseling. In the final stage, which involves result disclosure and information notification, the study proposes post-test management measures, including the establishment of a long-term follow-up system for patients and their families, and the enhancement of genetic information security. Furthermore, the study emphasizes that current laws do not adequately regulate legal issues such as consent for secondary findings. Therefore, it calls for specific legal revisions and the establishment of clinical standards that prioritize patient autonomy. In particular, for minors with limited decision-making capacity, additional safeguards are required, such as, ensuring the appropriateness of legal guardian consent, providing explanations and opportunities for participation suited to the minor’s level of understanding, and implementing a re-consent process upon reaching adulthood.