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Ethnicity-Based Genetic Screening: Care Instructions


All of our genes come in pairs. We get a copy from each parent. Genes help control everything from our eye colour to whether we get certain conditions. Genes that don't work right or that are missing can cause genetic conditions. These include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.

Some genetic conditions are more common in certain ethnic groups. A screening blood test can find out if you are a carrier of one of these conditions. You can be a carrier and not have symptoms. Instead, you "carry" one copy of a gene that is not working well. If someone in your family has one of these conditions, you may be a carrier. But many people who are carriers have no family history. If both members of a couple are carriers, they have a 1-in-4 chance of having a child born with the condition. So that means that there is a 3-in-4 chance that their child won't have the condition.

To have certain genetic conditions, a baby 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 or nurse call line 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 anemias. This group of conditions affects red blood cells. It includes sickle cell anemia and thalassemia. They can lead to lifelong medical problems, such as infections. In some cases, they can cause death in childhood or the early adult years. 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 causes the lungs and digestion to not work right. Problems caused by this disease can be treated. But there is no known cure. On average, people who have it live into their mid-to-late 30s. The disease is much more common in non-Hispanic white people than in people of other races and ethnic backgrounds.
  • Tay-Sachs disease. Babies with this disease have problems such as losing their sight or not being able to eat or crawl. Children who have it do not live very long. It is more common in people of Ashkenazi Jewish, French-Canadian, or Cajun backgrounds.
  • Diseases that occur more often in people of Ashkenazi Jewish background. These include:
    • Tay-Sachs disease.
    • Canavan disease.
    • Familial dysautonomia.
    • Cystic fibrosis.
    • Fanconi anemia group C.
    • Niemann-Pick disease type A.
    • Mucolipidosis IV.
    • Bloom syndrome.
    • Gaucher's disease.

Should you be tested?

Certain genetic conditions are more common in certain ethnic groups. People who are Caucasian or of African, Ashkenazi Jewish, Southeast Asian, French-Canadian, or Mediterranean background may want to think about genetic testing to find out if they have or are a carrier of a genetic condition that they could pass on to their child. Certain genetic conditions are more common in these ethnic groups. Some close-knit religious communities also have higher rates of certain genetic conditions. This includes the Amish, Hutterite, and Mennonite communities.

People with a family history of one of these conditions also may want to think about testing. Speak with your doctor about whether this type of testing is available in your area. AHS does not offer ethnicity-based genetic screening for Caucasians, French-Canadians or to religious communities.

What should you think about when deciding about this test?

  • Your doctor may advise you to talk to a genetic counsellor. He or she can help you understand the test and 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 have testing if you are pregnant or considering a pregnancy in the near future. The genetic information may affect whether or not a couple chooses to continue a pregnancy, and will often help parents make choices about the care of a newborn child.
  • If you are planning to become pregnant, it is best to consider genetic testing before you are pregnant.

Where can you learn more?

Go to

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