What are genetic tests?

There are different types of genetic tests:

  • Genetic Diagnostic tests: purpose to identify the presence of one or several genes or mutations to enable a physician to make a more informed clinical decision. The physician can provide a provisional diagnosis based on a number of clinical symptoms, and can gain a comprehensive diagnostic assessment with additional genetic information. These types of test are usually used for monogenic diseases.
  • Predictive Genetic tests: provide analysis of an individuals predisposition to developing a disease with a genetic base. These tests are often polygenic and used in more complex diseases in which genetics interact with lifestyle or external risk factors. Software algorithms based on individual genotypes and genetic risk factors are usually used to calculate the overall risk taking both clinical and genetic variables into account.