多基因风险评分:通过经济,道德和科学进步,探索精准医学的未来
Han Hoang Kim Nguyen1, Hung Minh Le1,2, Thang Quoc Le1
1College of Health Sciences, VinUniversity, Hanoi, Vietnam.
iScience
|January 16, 2026
概括
多基因风险评分 (PRS) 为精准医学提供了早期疾病预测. 本综述涵盖了PRS应用,伦理考虑和人工智能进步,以实现公平的全球卫生实施.
科学领域:
- 遗传学 遗传学 是一个
- 生物信息学是一种生物信息学.
- 公共卫生 公共卫生
背景情况:
- 多基因风险评分 (PRS) 在精准医学中越来越重要,用于疾病预测和预防.
- 他们融入医疗保健系统需要仔细考虑经济和道德因素.
研究的目的:
- 审查PRS在各种健康环境中的当前和未来应用.
- 讨论与PRS实施相关的经济和道德挑战.
- 突出AI,ML和FL在推进PRS中的作用.
主要方法:
- 对PRS应用的文献综述,经济因素,伦理考虑和技术进步.
- 在PRS开发和集成中分析人工智能 (AI),机器学习 (ML) 和联合学习 (FL).
- 审查低收入和中等收入国家 (LMICs) 的实施挑战.
主要成果:
- 在早期疾病预测和个性化预防策略方面,PRS显示出前景.
- 诸如基因测试成本下降和补偿政策等经济因素影响了PRS的可访问性.
- 诸如祖先偏见,隐私和知情同意等道德问题需要谨慎管理.
- 人工智能和机器学习提高了PRS的准确性和数据分析,而FL则使隐私保护数据共享成为可能.
- 公平的全球合作对于负责任的PRS实施至关重要.
结论:
- PRS是精密医学的强大工具,但它们的实施需要解决经济和道德方面的问题.
- 人工智能,ML和FL方面的进步对于改善PRS实用性和数据安全至关重要.
- 全球合作和能力建设对于确保公众健康中公平和负责任地使用PRS至关重要.
关键词:
卫生科学 卫生科学相关概念视频
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
407
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
407
Genetic Screens
5.6K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.6K
Genome-wide Association Studies-GWAS
15.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.3K
Human Genetics
1.5K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.5K
Polygenic Traits
68.9K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
68.9K
What is Genetic Engineering?
79.6K
Overview
79.6K


