Hendricks-Sturrup Rachele M, Yankah Sandra E, Lu Christine Y
Duke-Robert J. Margolis, MD, Institute for Health Policy, Washington, DC, United States.
Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA, United States.
Front Genet. 2024 Aug 14;15:1444084. doi: 10.3389/fgene.2024.1444084. eCollection 2024.
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.
增进对精神疾病发生和发展过程中遗传易感性、环境影响及社会文化因素之间复杂关系的理解,对于优化治疗效果和解决长期存在的健康差距至关重要。本文讨论了生物医学研究最新进展的伦理、法律和社会影响(ELSI),特别是在全基因组关联研究(GWAS)、全表型组关联研究(PheWAS)和全基因组环境相互作用研究(GWEIS)方面。尽管最近取得了科学进展,但诸如研究方法不足(如相关性研究)和研究样本缺乏多样性等挑战仍然存在。最近发现的几种疾病的遗传变异,可能会增强和改善,甚至挑战现有的对精神疾病发病和管理的理解。利用真实世界数据(RWD),包括关注健康社会决定因素的电子健康记录数据(EHR)以及生物样本库数据,为增进对基因 - 环境相互作用的理解和为减少精神卫生保健差距的努力提供了更多机会。增加知识可以支持及时、全面、基于证据和个性化的护理。解决ELSI相关问题并最大限度地利用RWD对于推进符合伦理和包容性的精神遗传学研究至关重要,最终改善患者结局并促进公平获得基于证据的治疗。