What Is Carrier Screening?

A carrier is a person who can pass a genetic disease on to his or her children but does not have the disease. Carrier identification is a type of genetic test that can help show whether people of high-risk groups (certain ethnic groups or a family history of a disease) for a specific disease are likely to pass that disease to their children. This type of test can guide a couple's decision about having children and making choices about diagnostic tests during a pregnancy.

An Ashkenazi Jewish genetic panel (AJGP), done on a blood sample, can see whether you or your partner is a carrier of gene changes that cause certain genetic diseases. If positive, the test can help show whether you and your partner have an increased chance of having a child born with one of these diseases.

Who Should Be Tested?

Genetic tests can be done for anyone who wants to know whether he or she is a carrier of certain diseases. The Ashkenazi Jewish genetic panel (AJGP) shows the chance of having a child with a disease that is more common among people of Eastern European Jewish heritage. Anyone who is interested in knowing his or her carrier status can ask for the test, but a doctor must order it.

Genetic test results often raise ethical, religious, or legal concerns. You should have genetic counseling before making a decision about testing. Genetic counselors are trained to explain the test and its possible results clearly. A genetic counselor can help you make well-informed decisions.

An AJGP may be recommended for people of Eastern European Jewish heritage, including:

• Partners of people with diseases on the test panel. For example, if one partner has cystic fibrosis (CF) and the other partner has the CF gene change, a child will have a 50% chance of having CF.
• Couples planning to have children.
• Pregnant women (and their partners) who seek prenatal care, whether they have a history of genetic diseases or not.
• Adults with a positive family history of a disease that is on the test panel.

If only one member of a couple has Ashkenazi Jewish heritage, that person is tested first. If test results show that the person is a carrier of a genetic disease, then his or her partner also may be tested.