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Integrating genome-wide polygenic risk scores and non-genetic risk to predict colorectal cancer diagnosis using UK Biobank data: population based cohort study.

Sarah E W BriggsPhilip LawJames E EastSarah WordsworthMalcolm DunlopRichard HoulstonJulia Hippisley-CoxIan P M Tomlinson
Published in: BMJ (Clinical research ed.) (2022)
Integrating polygenic risk scores with QCancer-10 modestly improves risk prediction over use of QCancer-10 alone. Given that QCancer-10 data can be obtained relatively easily from health records, use of polygenic risk score in risk stratified population screening for colorectal cancer currently has no clear justification. The added benefit, cost effectiveness, and acceptability of polygenic risk scores should be carefully evaluated in a real life screening setting before implementation in the general population.
Keyphrases
  • genome wide
  • healthcare
  • public health
  • dna methylation
  • mental health
  • machine learning
  • gene expression
  • quality improvement
  • social media
  • artificial intelligence
  • human health