Genetic testing
Genetic testing is a process where doctors look at a person's DNA to find changes or variations. These changes can show if someone might have or develop a genetic condition, like a disease passed down in families.
The test usually involves taking a small sample of saliva (spit), blood, or sometimes hair, skin, or fluid from around a baby in the womb. The sample is sent to a lab where scientists study the DNA. The results are then sent back to the doctor, who explains what they mean.
Genetic testing can tell us important things like:
- Whether someone has a genetic condition.
- If they might pass a genetic condition to their children.
- How likely they are to get certain diseases, like some types of cancer.
- What kind of medicine might work best for them based on their DNA.
Different types of genetic tests include:
- Predictive testing: Checking if someone might get a genetic condition that runs in their family.
- Diagnostic testing: Confirming if a person showing symptoms has a known genetic condition.
- Pharmacogenetic testing: Finding the best medicine or dose for a person based on their genetics.
- Carrier testing: Seeing if parents carry a gene that could be passed to their future children.
- Preimplantation genetic diagnosis: Testing embryos for genetic conditions before they are implanted in the womb during IVF.
- Prenatal testing: Checking an unborn baby for certain genetic conditions.
- Newborn screening: Testing newborn babies for rare but serious genetic conditions.
Genetic testing can lead to important decisions, such as taking steps to reduce the risk of certain diseases. It is often done with the help of a genetic counselor who helps patients understand the results and consider the best next steps.