Your local community for polygenomic risk testing information and how we can better understand our genetic risk associated with cancer, obesity, cardiovascular disease, and more.
What is Polygenomic Risk Profiling?
The genetic basis of common diseases like diabetes, cancer, heart disease, inflammatory bowel disease and Alzheimer’s disease is complex. Rarely is one gene mutation the cause of an illness.
Most diseases appear to be related to a complex network of abnormal genes interacting in a way that predisposes to future illness. Researchers are now studying this vast interplay of abnormal gene clusters analyzing millions of gene mutations to derive a ‘polygenic association”.
Having an understanding of just one gene abnormality is not a great predictor of future disease but what if we could uncover a wider range of gene mutations associated with a disease?
The science of identifying multiple genes associated with a certain disease is the basic idea behind polygenic risk scores (PRS).
Where do polygenic risk scores (PRS) come from?
To understand PRS, we must understand the science of Genome-wide Association Studies (GWAS). These large-scale studies compare the frequency of several hundred thousand common genetic variants between a group of people with a given disease/trait. These studies then compare findings with a normal population of individuals without the disease. Gene mutations identified in the disease group that is not found in the normal population are considered to be “associated” with the disease. Exactly how we don’t know, but they are clearly found more often in patients with the illness or condition.
Once these abnormal genes are identified, they are added to the PolyGenomic Risk Score and used to predict future illnesses. The more a gene mutation is identified in future reports from validated studies, the more weight it holds on the final score.
How reliable is PRS Testing?
Polygenic Risk Scoring should be viewed as a valuable tool in assessing the risk of disease. It can provide useful insights and help the clinician determine the need for additional testing and may serve as an added motivation to lower risk factors through diet, lifestyle, and earlier medical screening.
Like most tests, PRS is not an absolute predictor of disease and should never be acted upon without the advice of a physician. Just like any other medical tests, genomic profiling may be useful for identifying individuals who would benefit from earlier screening and testing.
Why is PRS testing important?
Early identification of risk factors is the core principle guiding all medical therapy. Preventing disease is far preferable to treating disease and its complications. Most individuals are quite comfortable with routine blood work, X-rays, EKG, colonoscopy; all tests designed to prevent future problems.
Genomic profiling is a similar concept and maybe a very important tool in preventing disease. For example, an individual with a high PRS for colon cancer, along with a family history of colon cancer and some recent changes in bowel activity may be recommended an early colonoscopy.
It is unlikely that a PRS assessment, by itself, would lead to any intervention. However, when PRS is added to some other important facts, it may tip the balance towards earlier testing and intervention. PRS data should always be reviewed with the physician prior to making any decisions regarding medical care.