What is the Difference Between Genetic Testing and Screening?

🆚 Go to Comparative Table 🆚

Genetic testing and genetic screening are both laboratory tests used to examine DNA, but they serve different purposes and are used in different contexts:

  • Genetic testing is done for a particular condition where an individual is suspected of being at increased risk due to their family history or the result of a genetic screening test. It is focused on determining the genetic status of individuals and is often used to confirm or rule out suspected genetic conditions.
  • Genetic screening is the process of testing a population for a genetic disease in order to identify a subgroup of people that either have the disease or are at an increased risk of developing it. It is used to evaluate an individual's risk of developing a genetic condition, and it is generally applied to people who do not have signs or symptoms of a disorder.

In summary, genetic testing is used to diagnose or rule out specific genetic conditions in individuals who are suspected to be at risk, while genetic screening is used to identify a subgroup of people within a population who may be at increased risk of developing a genetic condition.

Comparative Table: Genetic Testing vs Screening

Here is a table summarizing the differences between genetic testing and genetic screening:

Genetic Testing Genetic Screening
Refers to the laboratory analysis of human chromosomes, DNA, and RNA to detect genetic material and/or identify genetic changes. Involves the same testing processes as genetic testing to examine an individual's chromosomes, DNA, or the biochemical product of a gene, typically a protein, to confirm or refute a suspected chromosomal, DNA, or gene product change.
Diagnostic testing identifies genetic conditions. Used to evaluate an individual's risk of developing a genetic condition.
Focuses on identifying DNA variations, including both polymorphisms and mutations. Estimates whether an individual's risk of having a certain condition is increased or decreased compared to the risk in other people in a similar population.
Single-variant tests (e.g., diagnosis of the HBB p.Glu7Val mutation) and gene-based tests (single or multiple genes, e.g., genetic testing for autosomal dominant polycystic kidney disease [ADPKD] mutations in the PKD1 and PKD2 genes). Newborn screening is used just after birth to identify genetic disorders that can be treated early.

Both genetic testing and genetic screening involve the use of laboratory tests to determine the genetic status of individuals. However, genetic testing is used to diagnose or confirm genetic conditions, while genetic screening is used to evaluate an individual's risk of developing a genetic condition.