Table1_Applying an ELSI lens to real-world data and novel genomic insights for personalized mental healthcare.DOCX

Improving the understanding of the complex relationship between genetic predispositions, environmental influences, and sociocultural factors in the development and progression of mental illness is crucial for optimizing treatment efficacy and addressing longstanding health disparities. This paper discusses the ethical, legal, and social implications (ELSI) of recent advancements in biomedical research, particularly in genome-wide association studies (GWAS), phenome-wide association studies (PheWAS), and genome-wide environment interaction studies (GWEIS). Despite recent scientific progresses, challenges such as inadequate study methodology (e.g., correlational studies) and lack of diversity within study samples persist. Recent discoveries of several genetic variants of diseases, could augment and improve, or even challenge, existing understanding of the onset and management of mental illness. Leveraging real-world data (RWD), including electronic health record data (EHRs) focused on social determinant of health alongside biobank data, offers further opportunities to enhance the understanding of gene-environment interactions and inform efforts for reducing disparities in mental healthcare. Increased knowledge can support timely, holistic, evidence-based, and personalized care. Addressing ELSI considerations and maximizing the use of RWD is essential for advancing ethical and inclusive psychiatric genetics research, ultimately improving patient outcomes and promoting equitable access to evidence-based treatments.

加深对精神疾病发生发展过程中遗传易感性、环境影响与社会文化因素间复杂关联的理解，对于优化治疗效果、解决长期存在的健康差异至关重要。本文探讨了生物医学研究近期进展所涉及的伦理、法律与社会影响（ELSI），尤其聚焦于全基因组关联研究（GWAS）、全表型组关联研究（PheWAS）以及全基因组环境交互研究（GWEIS）。尽管近年来科学研究取得了进展，但仍存在研究方法不足（如相关性研究）、研究样本多样性不足等挑战。近期发现的若干疾病遗传变异，可强化、完善甚至颠覆现有对精神疾病发病与诊疗管理的认知。利用真实世界数据（RWD）——包括聚焦健康社会决定因素的电子健康档案数据（EHRs）与生物样本库数据——为进一步解析基因-环境交互作用、助力缩小精神卫生医疗服务差异提供了新的研究机遇。对这些关联的深入认知，可支撑及时、全面、循证且个性化的诊疗服务。重视ELSI考量并最大化利用真实世界数据，对于推动符合伦理且具有包容性的精神遗传学研究至关重要，最终可改善患者预后，并促进公平获取循证治疗手段。