Genetic tests

Genetic Tests

Genetic tests are medical tests that identify changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.

Types of Genetic Tests

Genetic tests can be broadly categorized into several types:

Diagnostic Testing

Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms.

Predictive and Presymptomatic Testing

These tests are used to detect gene mutations associated with disorders that appear after birth, often later in life. Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer.

Carrier Testing

Carrier testing is used to identify individuals who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions.

Prenatal Testing

Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder.

Newborn Screening

Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. This type of testing is important because if results indicate a disorder such as phenylketonuria (PKU), early treatment can prevent serious health problems.

Pharmacogenomic Testing

Pharmacogenomic testing gives information about how certain medicines are processed by an individual's body. This type of testing can help doctors choose the medicines that work best for a particular person.

How Genetic Tests Are Performed

Genetic tests are performed using a sample of blood, hair, skin, amniotic fluid (the fluid surrounding a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek.

Interpretation of Genetic Test Results

The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. A positive result means a change was found in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease, or suggest a need for further testing.

Ethical, Legal, and Social Implications

Genetic testing raises several ethical, legal, and social issues. For example, the ability to identify individuals at risk for disease raises questions about privacy and the potential for genetic discrimination in employment or insurance.

See Also

• Genomics
• Genetic counseling
• Personalized medicine

References

• National Human Genome Research Institute. "Genetic Testing." Retrieved from [1]
• Genetics Home Reference. "What is genetic testing?" Retrieved from [2]