학술논문

Establishment and evaluation of the polygenic disease risk prediction model
Document Type
article
Source
Shanghai yufang yixue, Vol 35, Iss 10, Pp 1044-1048 (2023)
Subject
polygenic risk score
risk prediction model
single-nucleotide polymorphism
environmental factor
Medicine
Language
Chinese
ISSN
1004-9231
Abstract
To establish a disease risk prediction model based on genetic susceptibility genes and environmental risk factors, which can target high-risk population as early as possible, and intervene in the environmental risk factors in this population. Moreover, accurate screening of genetically susceptible populations can enhance the efficiency of health system. In recent years, with the maturation and cost reduction of high-throughput gene testing, gene testing has been widely used in individual clinical decision-making and will play a more important role in medical and health decision-making. The correlation between genetic testing and disease risk prediction is increasing, making it a prominent research topic in this field. This review summarizes the approaches for establishing and evaluating risk prediction models and discusses potential future challenges and opportunities.