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Modest Improvement in Prediction From Combining Established Colorectal Cancer Risk Model With PRS

A University of Oxford-led team has combined a polygenic risk score with the colorectal cancer prediction model QCancer-10 to gauge whether the two together can better identify people at high risk of disease. As they report in the BMJ, the researchers used data from the UK Biobank to generate six PRSs and chose the best-performing one combine with QCancer-10. QCancer-10 itself takes age, ethnic group, family history, and alcohol and smoking status as well as a few medical conditions into consideration to determine disease risk. The researchers compared the performance of the combined PRS-QCancer-10 tool to QCancer-10 alone, finding that the two together modestly improve risk prediction. For the 20 percent of individuals with the highest risk, the sensitivity and specificity of the integrated tool for predicting colorectal cancer diagnosis was 47.8 percent and 80.3 percent respectively, for men and 42.7 percent and 80.1 percent, respectively, for women. "Although we have shown that risk stratification in some form is likely in principle to improve resource use and performance of colorectal cancer screening, the added benefit of adding PRS to QCancer-10 is modest, and we find no clear justification for implementing PRS based risk stratification at present," the researchers write.

The Scan

Machine Learning Helps ID Molecular Mechanisms of Pancreatic Islet Beta Cell Subtypes in Type 2 Diabetes

The approach helps overcome limitations of previous studies that had investigated the molecular mechanisms of pancreatic islet beta cells, the authors write in their Nature Genetics paper.

Culture-Based Methods, Shotgun Sequencing Reveal Transmission of Bifidobacterium Strains From Mothers to Infants

In a Nature Communications study, culture-based approaches along with shotgun sequencing give a better picture of the microbial strains transmitted from mothers to infants.

Microbial Communities Can Help Trees Adapt to Changing Climates

Tree seedlings that were inoculated with microbes from dry, warm, or cold sites could better survive drought, heat, and cold stress, according to a study in Science.

A Combination of Genetics and Environment Causes Cleft Lip

In a study published in Nature Communications, researchers investigate what combination of genetic and environmental factors come into play to cause cleft lip/palate.