Complex Disease Genomics
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Polygenic risk scores

Using research to better understand the heritable risk of disease

Two female scientists are working together, looking down at a monitor on a laptop in a lab setting.

Introduction to polygenic risk scores

Genetic tests to determine risk for monogenic diseases (such as cystic fibrosis or Huntington’s Disease) that are caused by a single mutation have been in use for over a decade. However, determining risk for complex diseases, which can be caused by hundreds to thousands of genetic variants that act in conjunction with environmental factors, remains challenging.

Polygenic risk scores (also known as polygenic scores and genetic risk scores; PRS) represent the total number of genetic variants that an individual has to assess their heritable risk of developing a particular disease. While there is still much more work needed to realize the potential for polygenic risk scores in precision medicine, polygenic risk scores have the potential to impact complex disease research and healthcare in a variety of ways:

  • Assess an individual's risk of disease
  • Analyze populations based on disease risk
  • Select samples within cohorts for further analysis
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Polygenic risk scores for genetic risk analysis

See how polygenic risk scores can provide insights into complex diseases and advancements for precision medicine. Explore capabilities and values of PRS as well as how it is used in practice in this infographic.​

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Illumina Polygenic Risk Score Solution

The Illumina PRS solution streamlines the statistically complex process of using a score for risk prediction with a comprehensive suite of tools.

Polygenic risk scores workflow overview

1
Customize and design

Custom genotyping solutions

Explore ways to customize your genotyping assays.

2
Process powerful arrays

Infinium Global Diversity Array with Polygenic Risk Score Content

A comprehensive, high-performance solution to analyze polygenic risk scores.

3
Execute lab workflow

Infinium workflow

A robust genotyping solution that’s flexible and scalable from DNA to data analysis.

4
Scan

iScan System

Perform reliable, high-throughput scanning for a wide range of applications.

5
Analyze

PRS software

User-friendly, point-and-click software accelerates the PRS implementation process.

How to calculate polygenic risk scores

Explore how polygenic risk scores are developed, from design to validation, and learn which additional reporting and quality aspects to consider for your research.

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Population stratification

Polygenic risk scores can provide researchers valuable insight into how predictive biomarkers for a specific complex disease can stratify populations according to risk. A study published by Khera, et al. in 2018 examined genome-wide polygenic risk scores in a population of over 250,000 individuals in the UK Biobank.1 They found 8% of the population tested had polygenic risk scores that conferred ≥ threefold increased risk for coronary artery disease.

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Learn more about PRS from leading researchers

In the first chapter of this series, experts explain what a polygenic risk score is and how they’re relevant to complex diseases.

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Discover key considerations for developing PRS

Geneticists share key considerations researchers should think about when developing a polygenic risk score.

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Explore future uses for polygenic risk scores

Learn more about future uses for polygenic risk scores, from stratifying populations to early intervention and preventative medicine.

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Explore more about polygenic risk scores

Watch leading geneticists and professors share their insights about how polygenic risk scores can be used to predict an individual’s risk of complex disease.

Featured polygenic risk score content

A guide to polygenic risk scores

Polygenic risk scores summarize genome-wide genotype data into a single number that represents genetic liability to a trait. Read this guide to learn more.

Two scientists, male and female, using a pen to write on a notepad while analyzing on a monitor, not visible, in a lab setting.

Pharmacogenomics studies

Similar to polygenic risk scores, the field of pharmacogenomics benefits from genome-wide association studies to predict an individual’s response or ability to metabolize a drug or therapeutic. These studies provide valuable insights and have the potential to allow for tailored medications and dosages for patients.

Learn more about pharmacogenomics

Additional resources

Genotyping methods

Read about genotyping methods to help you better understand diseases at the molecular level.

Bringing all the omics together

Dr Szilard Voros, CEO of Global Genomics Group (G3), shares how he and his team of researchers embarked on an ambitious journey to transform drug discovery using big data.

References

  1. Khera AV, Chaffin MC, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genetics. 2018;50:1219-1224.