Populationbased screening

Certain racial and ethnic groups are more at risk than are others for certain disorders, some of which are listed below. If you belong to one of these groups, talk to your health care provider or a genetic counselor about your risks of being a carrier and the screening process.

Racial or ethnic group_Genetic disorder_

Ashkenazi Jew Tay-Sachs disease, cystic fibrosis,

Canavan disease, Niemann-Pick disease (type A), Fanconi anemia (group C), Bloom syndrome, Gaucher disease, _familial dysautonomia_

French Canadian, Cajun

Tay-Sachs disease


Sickle cell disease



Chinese and Southeast Asian


(Cambodian, Filipinos, Laotian, Vietnamese)

White (European)

Cystic fibrosis

Population-based genetic carrier screening is available for people who are part of a group at risk of certain disorders. Screening can be done for:

• Autosomal recessive disorders. Your DNA is made up of paired sets of genes, one set received from your mother, one set from your father. With an autosomal recessive genetic disorder, if you carry a single altered gene for a disease, you don't have the signs and symptoms of it. If two people carry a recessive gene for the same disease, there's a 25 percent chance that their child will have the disease, a 25 percent chance that a child wouldn't be a carrier or affected, and a 50 percent chance that the child wouldn't have the disease but would be a carrier of the altered gene, like the parents (see visual, page 272).

Autosomal recessive disorders include Canavan disease, cystic fibro-sis, sickle cell disease and thalassemias, among thousands of others.

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