What Is Genetic Testing? Importance and Risks in Fertility

There are many diseases that may be transferred genetically. Similarly, inheriting a mutated gene from either parent can increase a person's risk of certain diseases and disorders including infertility. With genetic testing one can now identify gene mutations etc. that may lead to diseases in the future.

Why are Genetic Tests Conducted?

Genetic tests are conducted for many reasons such as:

• To check for genetic diseases in an unborn fetus
• To screen embryos for diseases such as Down Syndrome
• To see if a person has a mutated gene that may be passed on to their children
• To diagnose diseases before symptoms become apparent
• To confirm a diagnosis of certain diseases
• To identify the best form of treatment for a disease
• To identify the risk of diseases such as breast cancer and take preventive measures

How is Genetic Testing Done?

Today there are more than 2000 genetic tests available. There are also many more tests available at various stages of development.

To undergo a genetic test, DNA samples are first taken from the patient. This may be in the form of blood samples, hair, skin samples, saliva, amniotic fluid or other tissues. This sample is then sent to a laboratory where it is examined for genetic mutations or changes in the DNA structure. The results of this test may be sent to the patient directly or be sent to the doctor or genetic counselor.

In cases of genetic screening tests for newborns, the DNA sample is taken in the form of a blood test. The result is shared only if it is positive.

Risks and Limitations

Since only a small sample of blood or tissue is taken for genetic testing, these tests have a very low physical risk. However, in the case of genetic testing on unborn children, the risk may be higher. In such cases, a sample is taken from the amniotic fluid around the fetus. In rare cases, taking this sample can put the pregnancy at risk of a miscarriage.

Genetic testing can have emotional or psychological consequences. These tests may indicate a higher risk of a certain condition but cannot reveal how severely it will affect the person or when it will strike.

Anger, guilt, depression and anxiety are common reactions to a positive genetic test. This can be especially frustrating in cases where there is no known form of treatment. In some cases, the tests can also cause tension within families as it may reveal information not only about the person being tested but other family members as well.