All of our genes come in pairs. We get a copy from each parent. Genes help determine everything from our eye color to our height. We can also inherit gene changes. They can increase our risk for getting diseases like cancer. Or we can inherit gene changes that cause genetic diseases. These may include cystic fibrosis or sickle cell disease.
Some genetic conditions are more common in certain ethnic groups. If someone in your family has one of these conditions, you may be a carrier. A screening test can be done. This often involves checking your DNA in a sample of your blood or saliva.
To have certain genetic conditions, you must get a copy of the changed gene from each parent. The results of genetic screening can help you make choices about having children. If you test positive, your partner should be tested too.
Follow-up care is a key part of your treatment and safety. Be sure to make and go to all appointments, and call your doctor if you are having problems. It's also a good idea to know your test results and keep a list of the medicines you take.
Which conditions can this test find?
You can be tested to see if you or your partner might pass down gene changes to your child. You may be tested for:
- Inherited blood disorders. This group of conditions affects red blood cells. It includes sickle cell disease and thalassemia. Sickle cell disease occurs most often in people of African background. Thalassemia occurs most often in those of Asian, African, or Mediterranean background.
- Cystic fibrosis. This is much more common in non-Hispanic white people than in people of other races and backgrounds.
- Tay-Sachs disease. This is more common in people of Ashkenazi Jewish, French-Canadian, or Cajun backgrounds.
- Diseases that occur more often in people of Eastern European or Ashkenazi Jewish backgrounds. These include cystic fibrosis and Tay-Sachs. They also include Gaucher disease, Canavan disease, familial dysautonomia, and others.
Should you be tested?
If you think you might be the carrier of a genetic condition that you could pass along to your child, you may want to think about having genetic testing. Seeing a genetic counselor may also help. They can explain what is involved.
Certain conditions are more common in some ethnic groups, such as people of Ashkenazi or Eastern European backgrounds. Some close-knit religious communities also have higher rates of certain conditions. This includes the Amish and the Mennonites.
People with a family history of one of these conditions also may want to think about testing. You may want to have carrier screening and counseling before you have a child. The tests will help you understand the risks as well as your options.
What should you think about when deciding about this test?
- Your doctor may have you talk to a genetic counselor. The counselor can help you understand the test. You'll learn what the results could mean.
- Testing is not 100% accurate. But if you are in one of the higher-risk ethnic groups, testing is more accurate for certain diseases.
- You may choose to get testing before you get pregnant. This allows you to find out if you are at risk. Then you can think about all your options.
Where can you learn more?
Enter Q084 in the search box to learn more about "Ethnicity-Based Genetic Screening: Care Instructions".