For many people, the notion of genetic testing can bring about conflicted emotions. Some may feel that having genetic testing leads to the idea of “if my child isn’t perfect, I don’t want to have one.” However, genetic testing has been shown to be helpful as it allows parents to understand any potential risks for diseases and consider all their options. They can even seek help before a child is even born and use the information to prepare for a safe birth.
What is genetic testing?
Genetic testing is used for various reasons. Some people use testing to look for possible genetic diseases that could be pass on to a child before or after pregnancy or to find genetic and rare diseases in unborn children.
Having a genetic test done is relatively painless. It usually involves having blood drawn and sent to a laboratory. If you are having a genetic test completed after you become pregnant, your doctor might an amniocentesis test, which involves removing a small amount of amniotic fluid or a chorionic villus sampling, which analyzes a small sample of your placental tissue. Another test called the quad screen looks at your risk of having a child with Down syndrome or spina bifida.
Who should get tested?
If you or your partner have a family history of certain genetic diseases or have a high risk of being a carrier, your doctor might test for a specific gene. Many obstetricians offer patients the option for genetic testing, though some people tend to have a higher risk of being a carrier for certain genetic disease. Here are some examples.
- Sickle cell anemia is most common in people with African ancestry.
- Thalassemia is most common in people of Italian, Greek, Middle Eastern, Asian and African descent.
- Tay Sachs disease is most common in Ashkenazi Jews
- Cystic Fibrosis is most common in Caucasians and those with a family history of the disease
While these are some of the most commonly known hereditary diseases, genetic tests can be used to screen for more than 500 different diseases. The results are complicated and it’s recommended that you meet with a genetic counselor since they’re specially trained to understand and interpret them.
Why some people choose not to have genetic testing
There are many reasons why some patients would opt not to have genetic testing done. Some people find the idea of genetic testing to be overwhelming and would rather not know about potential diseases. Whenever genes for a rare disease is found in both partners, the risk of having a child with that disease is about 25 percent. So they may feel the risk is not worth the anxiety that comes with taking such tests. Meanwhile, some may feel it is against their religious beliefs. And for women who are pregnant, they may not want to face such a dilemma if major health problems were found. And depending on the test, costs can be prohibitive, ranging anywhere from $100 to $2,000. If certain genes are found during a test, your partner may need to be tested as well.
How genetic testing can help
An unexpected health problem or concern that shows up on a genetic test doesn’t mean you need to end your pregnancy. You and your partner will have time to learn about the disease and prepare yourselves emotionally and physically for what comes next. You can also take the time to find experts who specialize in particular diseases or choose to give birth in a medical center equipped with doctors capable of treating the baby immediately.
Should you have genetic testing done?
What is right for your family might not be right for another. So each person must weigh both the pros and cons of genetic testing and make the decision that they feel is best for their family.
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Do All Women Need Genetic Testing Before Pregnancy?: Time Magazine
Frequently Asked Questions about Genetic Testing: Human Genome Research Institute
Genetic Counseling and Testing: Childbirth Connection