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You are here : home > Genetic Testing > Testing for Genetic Disorders > When do Doctors use Genetic Testing

When do Doctors use Genetic Testing

When do Doctors use Genetic Testing

Genetic testing is an important tool for determining the inherited genetic risk factors in an individual. Genetic testing can prevent the occurrence of many of the genetic diseases. Read on to know more.

Doctors can suggest genetic testing when they are suspecting a certain disease but is not sure of its origin. Genetic testing helps them not only to locate and identify the root cause, but also enables them to suggest alternatives and measures to their patients on how they can prevent the passing on their genetic condition to their offspring and thus prevent the disease from spreading.

When is Genetic Testing Suggested?

Given below are a few occasions where doctors suggest genetic testing.

Acuteness of Disease -

Doctors evaluate the symptoms and then diagnose. When the condition is not really simple due to the acuteness of a certain disease, genetic testing can help the doctor conclude whether patient has symptoms that perfectly matches with his diagnosis.

Individual is Carrier of Disease -

Doctors also call for a genetic test when they want to be sure whether an individual is a carrier for a genetic disease. It is a delicate situation as carriers carry the gene but usually do not contract the disease. This makes them risky entities as they can pass on their altered gene to their offspring.

To Make Sure That the Fetus is Healthy -

Genetic testing can help the doctors to ascertain whether a fetus is likely to be born with a genetic condition. This genetic test is a part of prenatal testing.

Newborn Screening -

When doctors suggest genetic testing as a part of newborn screening, it is to search for the presence of abnormal or missing proteins that have a potential to cause a disease.

To Be Cent-Percent Sure -

A person is likely to develop a certain disease even if the symptoms are not visibly manifested. A doctor can suggest a genetic testing in order to obtain an assured result on whether the individual already has an inherited disposition to contract a particular disease. This can effectively help him to plan the course or treatment.

To Determine Treatment Options -

Genetic testing helps the doctors to determine the type or dose of medicine that is best effective for the said individual. This invariably enhances the efficiency of the treatment. This style of treatment is termed as Pharmacogenetics.

Reasons for Genetic Testing

Doctors call for genetic testing for the following reasons.

Diagnostic Testing

This is suggested when the doctor requires confirmation of his diagnosis. When a patient begins to show signs or symptoms of a certain genetic disease, the doctor suggests a particular genetic test prior to planning an effective course of treatment. For instance, if a patient’s physical features suggests Down’s syndrome, the doctor calls for a chromosomal test in order to ascertain whether the said individual indeed has an additional pair of chromosome 21.

Predictive Testing

In this case doctors call for genetic testing when they feel that a person is likely to contract a disease even before the symptoms really appear. As the name suggests, this is more of a corrective measure. For instance if someone is likely to develop a colon or breast cancer in their later years, the doctor can judge the condition through a predictive test screen for the presence of inherited genetic risk factors. The same is the case with the adult Type II diabetes. The testing reveals that the chances are high for the person to contract the disease but not that the person will surely contract the disease.

Presymptomatic Testing

This is a variant of predictive testing where the doctor can know whether the direct relatives of the said individual’s family tree are at a risk of developing a certain genetic condition. The test therefore identifies the presence of a risk factor when the symptoms have not yet appeared in them. This is a precautionary testing that can prove to be immensely beneficial as you not only have the treatment options but can prevent the disease as well. For instance if the altered genes for Grave’s disease is found in a patient, the doctor suggests a test for all the blood relatives. Those members having the altered genes are asked to remove their thyroid gland (which causes hyperthyroidism, the cause behind Grave’s disease) and thereby prevent the occurrence of the disease.


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