How does CircleDNA test for elevated risks of diseases and cancers?
For two of the clinically-oriented sections in CircleDNA, Cancer Risk and Family Planning, we screen for disease-causing mutations in genes associated with the respective diseases. If we identify any mutations, we report them as positive findings. This type of mutation is known as monogenic variant, which is a single mutation that can substantially increase the risk of disease.Another type of genetic risk assessment is called polygenic model. This type of assessment involves combining individual variants, each with a small effect, into a polygenic model to determine an individual's risk for complex diseases.These diseases can be caused by hundreds of genetic variants that act in conjunction with environmental factors. The total number of genetic variants that an individual has, known as polygenic scores, can help assess the heritable risk of developing a particular disease. The threshold of the model determines whether your score is above or below the threshold, which then determines the genetic risk.Some diseases are both monogenic and polygenic disease, such as Parkinson’s disease, Stroke, etc. For these diseases, we use both polygenic modeling and monogenic variant screening to evaluate your risk. If we identify a single monogenic mutation, we classify the genetic risk as elevated.