Overview
Genetic testing is a type of medical test that identifies changes in genes, inherited from our parents, which we then typically pass on to our children. “Mistakes” in our genes (called “mutations”) can manifest the disease, and genetic tests may be used to confirm the disease diagnosis.
Genetic testing involves examining your DNA, the chemical database that carries instructions for your body’s functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease. Everyone has a unique genome, made up of the DNA in all of a person’s genes. This complex testing can help identify genetic variants that may relate to your health.
Genetic testing plays a vital role in determining the risk of developing certain diseases as well as screening and sometimes medical treatment. Different types of genetic testing are done for different reasons:
Diagnostic testing
If you have symptoms of a disease that may be caused by genetic changes, sometimes called mutated genes, genetic testing can reveal if you have the suspected disorder.
Presymptomatic and predictive testing
If you have a family history of a genetic condition, getting genetic testing before you have symptoms may show if you’re at risk of developing that condition. For example, this type of test may be useful for identifying your risk of certain types of colorectal cancer.
Carrier testing
If you have a family history of a genetic disorder — such as sickle cell anemia or cystic fibrosis — or you’re in an ethnic group that has a high risk of a specific genetic disorder, you may choose to have genetic testing before having children. An expanded carrier screening test can detect genes associated with a wide variety of genetic diseases and mutations and can identify if you and your partner are carriers for the same conditions.
If you have a particular health condition or disease, this type of genetic testing may help determine what medication and dosage will be most effective and beneficial for you.
What are the benefits of genetic testing?
- For a lot of disorders, genetic testing is the only way to make a precise diagnosis and help avoid additional unnecessary clinical investigations.
- Genetic testing can guide the clinician in choosing the most suitable therapy and support for the patient.
- A definite diagnosis can be a great relief to patients and families, especially if they have been searching for the answer for long time.
- In some genetic diseases good surveillance and early intervention can save the patient’s life (e.g. early diagnosis of hereditary cancer).
- The results of genetic testing may be useful for future family planning.