Genetic Testing vs. Genetic Screening

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Genetic screening and genetic testing are terms that are often encountered in prenatal screening with pregnant women. In fact, the American College of Obstetricians and Gynecologists strongly advise that pregnant women of all ages should be offered with options for first-and second-trimester prenatal genetic screening or genetic testing. But before everything else, here are the definitions to differentiate genetic testing vs. genetic screening.

Genetic Screening

What is genetic screening? It is the use of a set of diagnostic tests on a large number of individuals for the identification of people who are carriers of specific genetic disorders and those who are at high risk of having them.

Genetic Testing

On the other hand, genetic testing is defined as the use of laboratory tests to determine the genetic status of an individual. These people who undergo genetic testing are already suspected to be at high risk for a particular genetic disorder. Genetic testing is usually based on a positive screening test or, in some cases, the medical history of the family.

The Difference between Genetic Screening and Genetic Testing

The main similarity of genetic screening and genetic testing is that it involves the use of laboratory tests to identify the presence of specific genes that may cause genetic disorders. Both of these involve the same medical procedures, but the genetic testing has more rigid tests.

The main difference between genetic screening and genetic testing can be explained in the reason why a certain person undergoes the medical procedure. If a person wants to be tested because of the possibility of having a disease due to the occurrence of such disease within a certain age group or ethnic group, then one will be undergoing genetic screening. Meanwhile if a person suspects they have the disease gene due to family history, then this person will undergo genetic testing.

Genetic screening is referred to as population-based screening. The medical tests are employed to a large number of the population to determine the members of the population who are at high risk of having the disease gene. As an example, African Americans are known to be subject to a higher risk of having sickle cell disease due to the presence of a specific gene.

Genetic testing, on the other hand, is used to screen only an individual, not a large number of people, for the presence of the disease-causing gene. For example, a person belonging to a family with a background of cystic fibrosis can undergo genetic testing to indentify the presence of the specific gene causing cystic fibrosis. The general public expressed much interest in genetic testing, especially in the form of genetic testing kits to predict talents. However, this idea had attracted a lot of violent reactions from the medical community.

The Options

With both genetic screening and genetic testing, pregnant women have various options. Most pregnant women opt for genetic screening and decide to undergo genetic testing based on the initial results of the screening.

Some women choose to undergo genetic testing right away based on medical records and family history. Others may also feel that they need to know their baby’s condition to the best detail as much as possible, even with the small risk of miscarriage.


Although both genetic screening and genetic testing are methods for disease prevention, the main difference in genetic testing vs. genetic screening is in the underlying reason behind the conduct of the medical procedures. Genetic screening is the set of tests employed to a large number of people for the purpose of determining the presence of certain genes within a certain age group. The initial results of screening can be a good basis for more tests with genetic testing. Genetic testing is a set of tests employed to examine the genetic makeup of an individual rigidly. The decision to undergo genetic testing is usually based on positive genetic screening or family history of disease.


Devore, David. 1992. Genetic Screening and Ethics: An Overview. The Woodrow Wilson Biology Institute.