What is “Genetic Testing”?

A genetic test is “the analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes (Holtzman et al)”. NCI defines it as : “Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder.”

Tests used for diagnostic purposes in oncology often look at genetic alterations in order to classify disease, determine its prognosis, or determine whether a specific therapeutic agent will work in the situation. However, such tests, for example, BCR/ABL, cytoigenetics, Flow cytometry or Jak-2 are not “genetic tests” as usually defined.

Holtzman NA, Watson MS, eds. Promoting safe and effective genetic testing in the United States: final report of the Task Force on Genetic Testing. Baltimore: Johns Hopkins University Press, 1999.

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