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What is Polygenic Risk Mapping, and how is it used in my healthcare plan?

Polygenic risk mapping, also known as polygenic risk scoring (PRS), is a method for estimating an individual's genetic risk of developing a disease or trait. Unlike testing for presence or absence of a specific genetic marker, PRS is based on the collective effect of many different genes including known and unknown relevant interactions.

A polygenic risk mapping test, often referred to as a polygenic risk score (PRS) test or polygenic risk assessment, is a genetic test that evaluates an individual's genetic risk for developing complex traits or diseases based on their genetic profile. Here’s how it generally works:Genetic Data Collection: The first step involves collecting genetic data from the individual. This is typically done through a DNA sample, often obtained from saliva or blood.

Genotyping: The genetic material (DNA) from the sample is analyzed using genotyping techniques. These techniques identify specific genetic variants (single nucleotide polymorphisms or SNPs) across the genome.Polygenic Risk Score Calculation: Once the genetic variants are identified, a polygenic risk score (PRS) is calculated. This score combines information from multiple genetic variants that have been found to be associated with the trait or disease of interest through previous genome-wide association studies (GWAS).

Risk Assessment: Based on the polygenic risk score, the test provides an assessment of the individual's genetic predisposition or risk for developing the specific trait or disease. This risk assessment is usually presented as a relative risk compared to the general population.

Polygenic risk mapping tests are particularly relevant for complex traits and diseases influenced by multiple genetic factors, such as heart disease, diabetes, obesity, certain cancers, and psychiatric disorders. They provide a more nuanced understanding of genetic risk compared to traditional genetic tests that focus on single gene mutations or variants.

The PRS can be used to complement traditional genetic testing and help guide diagnosis, prevention, and treatment of patients. Ringside Health utilizes PRS to identify patients at risk of certain diseases and traits. Using this information in a proactive manner, our providers implement personalized care plans combining appropriate medications, nutritional plans, exercise, and functional wellness supplements and treatments to reduce risk, increase survival, and improve overall health and well-being. If you are interested in more information, please discuss with your Ringside Health Provider.