Wang Ying, He Yixuan, Shi Yue, Qian David C, Gray Kathryn J, Winn Robert, Martin Alicia R
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Am J Hum Genet. 2024 May 2;111(5):809-824. doi: 10.1016/j.ajhg.2024.04.002. Epub 2024 Apr 19.
Advancements in genomic technologies have shown remarkable promise for improving health trajectories. The Human Genome Project has catalyzed the integration of genomic tools into clinical practice, such as disease risk assessment, prenatal testing and reproductive genomics, cancer diagnostics and prognostication, and therapeutic decision making. Despite the promise of genomic technologies, their full potential remains untapped without including individuals of diverse ancestries and integrating social determinants of health (SDOHs). The NHGRI launched the 2020 Strategic Vision with ten bold predictions by 2030, including "individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics." Meeting this goal requires a holistic approach that brings together genomic advancements with careful consideration to healthcare access as well as SDOHs to ensure that translation of genetics research is inclusive, affordable, and accessible and ultimately narrows rather than widens health disparities. With this prediction in mind, this review delves into the two paramount applications of genetic testing-reproductive genomics and precision oncology. When discussing these applications of genomic advancements, we evaluate current accessibility limitations, highlight challenges in achieving representativeness, and propose paths forward to realize the ultimate goal of their equitable applications.
基因组技术的进步已显示出在改善健康轨迹方面的巨大潜力。人类基因组计划推动了基因组工具在临床实践中的整合,例如疾病风险评估、产前检测和生殖基因组学、癌症诊断与预后以及治疗决策。尽管基因组技术前景广阔,但如果不纳入不同血统的个体并整合健康的社会决定因素(SDOHs),其全部潜力仍未得到挖掘。美国国立人类基因组研究所(NHGRI)发布了《2020年战略愿景》,其中包含到2030年的十项大胆预测,包括“来自不同祖先背景的个体将公平地受益于人类基因组学的进步”。要实现这一目标,需要一种整体方法,将基因组学的进步与对医疗保健可及性以及健康的社会决定因素的仔细考虑结合起来,以确保遗传学研究的转化具有包容性、可负担性和可及性,并最终缩小而非扩大健康差距。考虑到这一预测,本综述深入探讨了基因检测的两个最重要应用——生殖基因组学和精准肿瘤学。在讨论基因组学进步的这些应用时,我们评估当前的可及性限制,强调在实现代表性方面的挑战,并提出实现其公平应用最终目标的前进道路。