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What are the uses of genetic testing?
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Testing

What are the uses of genetic testing?

Genetic testing serves various clinical and legal purposes, ranging from early newborn screening to identifying risks for adult-onset disorders.

Primary Uses

  • Newborn screening: Used just after birth to identify genetic disorders that can be treated early. In the U.S., millions of babies are screened annually for a recommended set of 40 conditions.
  • Diagnostic testing: Used to identify or rule out a specific genetic or chromosomal condition when physical signs and symptoms are present.
  • Carrier testing: Identifies individuals who carry one copy of a gene mutation that causes a disorder when two copies are present. This is often used by those with a family history or those in specific ethnic groups with increased risk.
  • Prenatal testing: Detects genetic or chromosomal changes in a fetus during pregnancy when there is an increased risk of a disorder.
  • Preimplantation testing: Also called preimplantation genetic diagnosis (PGD), this technique is used with assisted reproductive techniques like in-vitro fertilization (IVF) to test embryos for genetic changes before implantation.
  • Predictive and presymptomatic testing: Used to detect mutations associated with disorders that appear later in life. Predictive testing identifies increased risk for conditions like cancer, while presymptomatic testing determines if a person will develop a disorder before symptoms appear.
  • Forensic testing: Uses DNA sequences for legal purposes, such as identifying crime or catastrophe victims, ruling out or implicating suspects, or establishing biological relationships like paternity.

Frequently Asked Questions

PGD involves taking a cell from an embryo created via IVF and testing it for specific genetic abnormalities before implantation. Couples who are carriers of a serious genetic disorder, have a history of chromosomal abnormalities, or want to avoid passing on a known mutation can use PGD to select embryos free of the condition, thereby reducing the chance of having an affected child.
Newborn screening identifies a panel of inherited metabolic, endocrine, and neuromuscular disorders that can be treated or managed more effectively if caught early. By detecting conditions such as phenylketonuria, cystic fibrosis, or congenital hypothyroidism before symptoms appear, the screening allows for prompt treatment that can prevent developmental delays, organ damage, or death.
Predictive testing identifies a mutation that increases the risk of developing a disease later in life, such as BRCA1/2 for breast cancer. Presymptomatic testing confirms whether a person already carries a mutation that will cause a disease once symptoms appear, like Huntington’s disease. Both tests inform surveillance plans, lifestyle changes, and preventive strategies, but predictive tests focus on risk reduction while presymptomatic tests confirm disease presence before clinical onset.
Carrier testing is recommended for individuals who have a known family history of a recessive disorder, belong to an ethnic group with a higher carrier frequency, or are planning a pregnancy. Testing before conception or early in pregnancy helps couples understand their risk of having an affected child and explore reproductive options such as IVF with PGD, preimplantation testing, or prenatal diagnosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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