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Genetic Testing

What is genetic testing?

Genetic testing is a medical test used to examine and identify changes in individuals’ chromosomes, proteins, or genes. Genetic testing typically looks for small to large abnormalities in the DNA of the blood, tissues, or fluids. Other DNA abnormalities include genes that are turned off, lost, or too active.  

There are three main types of genetic testing: 

  • Biochemical tests which look at key proteins’ amount and activities  

  • Molecular genetic tests which look at single genes and sections of DNA 

  • Chromosomal genetic tests which look at the chromosomes 

Healthcare providers perform genetic testing for a variety of reasons like prenatal testing, carrier testing, forensic testing, or predictive testing.  

Why is genetic testing important to healthcare?

Genetic testing is important to healthcare because it can diagnose conditions and give individuals greater insight into their genetic health. This information can help individuals understand risks and make more informed decisions about their health.  

Genetic testing also helps usher in an era of precision medicine that helps providers diagnose and treat conditions based on individuals’ genes.  

Importantly, genetic tests can provide great relief or create a significant amount of distress. Genetic counselors can help individuals cope with the psychological impacts of genetic testing.