When are genetic tests performed?

When should genetic testing be done?

The rapid advancement in the field of genetics contributed to the development of various innovative genetic tests, that help prevent diseases, diagnose gene carriers, and treat different disorders.

This article will discuss several different occasions in which genetic testing is recommended. It should be noted that genetics research is still developing rapidly, which should allow creating new tests suitable for further conditions.


Genetic testing of adults

Genetic testing for adults helps determine a risk for developing certain types of hereditary cancer. Certain gene mutations may significantly increase the risk for cancer.

If indeed genetic screening shows an increased risk for colorectal cancer, follow-up care is recommended to study the early signs and adopt a healthier lifestyle.

Women who are found to be carriers of gene mutations may be recommended prophylactic mastectomy, since inheriting a mutated gene copy can create a risk for developing breast cancer that is up to five times higher than average.


Newborn genetic screening

In many genetic diseases, symptomatic expression begins during the first days after birth. Some of these diseases may fatally impair the infant’s health, but a significant amount of these diseases can be controlled if diagnosed on time.

For this reason, newborn screening is a service offered in all US states, newborns are tested for different health disorders to help ensure an early diagnosis and suitable treatment, that can help prevent serious health problems in the future.


Preconception genetic testing

Certain genetic disorders have an autosomal recessive inheritance pattern. This means that a child must inherit a defected gene from each of their parents to develop the disease. Accordingly, when only one copy of the gene is defected, symptoms will not develop, and a patient will probably not even be aware they are a carrier.

However, couples interested in having children must be sure they are not carriers of defected gene copies that they might pass down to their child, causing a genetic disorder.

Various preconception genetic tests (also known as carrier screening) are available. Some of these are available to general population, while others are offered to those with a family history of a certain genetic disorder. Other tests are offered to people of certain ethnic descents prone to different gene mutations.


Prenatal testing

Prenatal testing is performed during pregnancy to determine whether the fetus is at risk for genetic disorders. Some of the known prenatal tests are amniocentesis and CVS (chorionic villus sampling).

The results of these tests can help prevent complications, assist healthcare professionals in providing treatment to the fetus while still in the womb (in utero), and help parents decide whether to continue the pregnancy.


Genetic testing for cancer risk

Like all organisms on the planet, cancerous tumors have genetic material that distinguishes them from each other.

Today, it is possible to take a sample of cancer tissue and genetically test it to learn more about the specific type of cancer. This information is useful in determining prognosis, planning treatment, deciding on surgery, and more.

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