Meagher Karen M, McGowan Michelle L, Settersten Richard A, Fishman Jennifer R, Juengst Eric T
Center for Genomics and Society, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599; email:
Ethics Center, Division of General and Community Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229; email:
Annu Rev Genomics Hum Genet. 2017 Aug 31;18:369-387. doi: 10.1146/annurev-genom-091416-035222. Epub 2017 Apr 24.
In addition to genetic data, precision medicine research gathers information about three factors that modulate gene expression: lifestyles, environments, and communities. The relevant research tools-epidemiology, environmental assessment, and socioeconomic analysis-are those of public health sciences rather than molecular biology. Because these methods are designed to support inferences and interventions addressing population health, the aspirations of this research are expanding from individualized treatment toward precision prevention in public health. The purpose of this review is to explore the emerging goals and challenges of such a shift to help ensure that the genomics community and public policy makers understand the ethical issues at stake in embracing and pursuing precision prevention. Two emerging goals bear special attention in this regard: (a) public health risk reduction strategies, such as screening, and (b) the application of genomic variation studies to understand and reduce health disparities among population groups.
除了遗传数据外,精准医学研究还收集有关调节基因表达的三个因素的信息:生活方式、环境和社区。相关的研究工具——流行病学、环境评估和社会经济分析——属于公共卫生科学而非分子生物学。由于这些方法旨在支持针对人群健康的推断和干预措施,因此这项研究的目标正从个体化治疗向公共卫生中的精准预防扩展。本综述的目的是探讨这种转变所带来的新目标和挑战,以帮助确保基因组学界和公共政策制定者了解在接受和推行精准预防方面所涉及的伦理问题。在这方面,有两个新目标值得特别关注:(a)公共卫生风险降低策略,如筛查;(b)应用基因组变异研究来理解和减少不同人群之间的健康差距。