Polygenic risk scores: what are they and what can public health do with them? | CDC

Polygenic risk scores: what are they and what can public health do with them? | CDC

Polygenic risk scores: What are they and what can public health do with them?

August 13, 2020, 9:00 am -10:00 am EDT

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Cecile Janssens, PhD
Research Professor of Translational Epidemiology ,
Emory University

In recent years, findings from genome-wide association studies (GWAS) have been used to generate polygenic risk score models for various complex diseases. These models combine variants from many genes to predict inherited relative risk, in contrast to more traditional methods that only consider the role of one or a few genes in disease risk. While the development and validation of polygenic risk scores may hold considerable promise to impact disease prevention and health promotion in the future, the present value of applying such models in clinical medicine and public health practice remains debatable. This mini-course will provide an introduction to polygenic risk score models, including examples for cancer and cardiovascular disease. Discussions will include how to develop and validate these models.

Background Materials

• Validity of polygenic risk scores: are we measuring what we think we are?external iconJanssens ACJW. Hum Mol Genet. 2019 Nov 21;28(R2):R143-R150.
• Polygenic risk scores that predict common diseases using millions of single nucleotide polymorphisms: Is more, better?external iconJanssens ACJW, Joyner MJ. Clin Chem. 2019 May;65(5):609-611.
• Polygenic scores, risk and cardiovascular disease.pdf iconexternal iconMoorthie S, et al. PHG Foundation Aug 2019
• Cost-effectiveness of risk-stratified colorectal cancer screening based on polygenic risk – current status and future potential.external iconNaber SK, et al. JNCI Cancer Spectrum. 2019 Accepted manuscript
• What are polygenic scores and why are they important?external iconSugrue LP, Desikan RS. JAMA. 2019 May 14;321(18):1820-1821.

Hosted by

• Office of Genomics and Precision Public Health, Office of Science
• Division of Cancer Prevention and Control
• Division for Heart Disease and Stroke Prevention