Julius H. J. van der Werf, Xuan Zhou, Jisu Shin, Jiuyong Li, Buu Truong, S. Hong Lee, Thuc Duy Le, Truong, Buu, Zhou, Xuan, Shin, Jisu, Li, Jiuyong, van der Werf, Julius HJ, Le, Thuc D, and Lee, S Hong
Polygenic risk scores are emerging as a potentially powerful tool to predict future phenotypes of target individuals, typically using unrelated individuals, thereby devaluing information from relatives. Here, for 50 traits from the UK Biobank data, we show that a design of 5,000 individuals with first-degree relatives of target individuals can achieve a prediction accuracy similar to that of around 220,000 unrelated individuals (mean prediction accuracy = 0.26 vs. 0.24, mean fold-change = 1.06 (95% CI: 0.99-1.13), P-value = 0.08), despite a 44-fold difference in sample size. For lifestyle traits, the prediction accuracy with 5,000 individuals including first-degree relatives of target individuals is significantly higher than that with 220,000 unrelated individuals (mean prediction accuracy = 0.22 vs. 0.16, mean fold-change = 1.40 (1.17-1.62), P-value = 0.025). Our findings suggest that polygenic prediction integrating family information may help to accelerate precision health and clinical intervention., Genetic data from large cohorts of unrelated individuals can be used to create polygenic risk scores, which could be used to predict individual risk of developing a specific disease. Here the authors show that smaller cohorts of related individuals can provide similarly powerful predictive ability.