Abstract

Background:Genomic sequencing has become an integral component of standard oncological care. In parallel, artificial intelligence (AI), particularly machine learning (ML), has revolutionized the analysis of large-scale biomedical data, enabling the identification of biomarkers, prognostic prediction, and treatment personalization. However, its use raises significant ethical and regulatory challenges related to pri vacy, informed consent, data security, and equity. In Chile, despite recent advances such as Law No. 21.719 on Personal Data Protection (2024), specific regulatory gaps remain regarding the use of AI applied to genomic data. Moreover, the delayed enforcement of this law until 2026 creates a period of regulatory uncertainty. Methods:We conducted a qualitative-descriptive study through documentary and regulatory analysis. National laws (Nos. 19.628, 20.584, 20.120, 21.663, 21.719), legislative bills on AI, European regulations (GDPR and Regulation 2025/327 on the European Health Data Space), bioethical documents from international organiza tions, and academic literature indexed in PubMed, Scielo, and Google Scholar were reviewed. A thematic analysis was applied to identify five critical dimensions: general legal framework, regulation of genomic data, AI governance in healthcare, ethical conditions for research, and requirements for algorithmic transparency. Results:Findings revealed a fragmented and transitional Chilean regulatory frame work. Law No. 19.628 is outdated in the context of AI, while Law No. 21.719 mod ernizes sensitive data protection, introduces sanctions, and regulates international transfers, but has not yet entered into force. The 2025 AI bill adopts a risk-based approach aligned with the EU AI Act; however, it lacks provisions specifically addressing genomic oncology. Ethical gaps persist regarding secondary data use, risks of re-identification, and the absence of robust protocols for algorithmic auditability and explainability. Conclusions:Chile’s regulatory framework shows progress but remains unprepared for AI in oncogenomics. Accelerating Law 21.719, aligning it with the AI bill, and developing health guidelines are key to ensure transparency, equity, rights protec tion, and foster ethical innovation in oncology.