Establishment and evaluation of the polygenic disease risk prediction model / 上海预防医学

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.

Screening strategy on precision prevention strategies for three types of malignant tumors / 上海预防医学

Malignant tumors can be classified into three categories， rapidly progressing tumors， slowly progressing tumors， and "indolent" tumors. Rapidly progressing tumors （such as liver cancer， pancreatic cancer， and cholangiocarcinoma） have acute onset， shorter time duration from onset to death， and poorer treatment effects， which warrants primary prevention. Slowly progressing tumors （such as lung cancer， colorectal cancer， breast cancer， and gastric cancer） have slow onset， clear precancerous lesions， longer time duration from onset to death， and better therapeutic effects， which is accordingly suitable for secondary prevention. “Indolent” tumors （such as prostate and thyroid cancer） do not affect the life expectancy and are suitable for tertiary prevention. Early screening of “indolent” tumors may lead to overtreatment. Furthermore， early screening of rapidly progressing tumors is difficult to identify early cancers， which results in low cost-effectiveness. In contrast， for slowly progressing tumors suitable for secondary prevention， early screening may have cost-effectiveness， though there might be over-diagnosis. It is crucial to adopt appropriate prevention and treatment strategies for diverse types of tumors. Currently， large-scale cohort studies and randomized controlled clinical trials with complete follow-up may accurately evaluate the effect of cancer prevention strategies. This review discusses the significance of screening in precision prevention of tumors based on the characteristics of tumor progression and patients’ prognosis.