Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. Even though most of these diseases are severe and life-limiting, some can be treated to reduce symptoms and prolong life. Some of these diseases can be found during pregnancy through chorionic villus sampling (CVS) or amniocentesis. This testing is done usually if one or both parents are carriers of a genetic disease.
Diseases in this group include:
About 1 out of 4 people of Ashkenazi Jewish heritage is a carrier of one of these genetic conditions, most commonly of Gaucher disease, cystic fibrosis, Tay-Sachs disease, familial dysautonomia, or Canavan disease.footnote 1
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An Ashkenazi Jewish genetic panel (AJGP) is a blood test that looks for genetic diseases that occur more often in people of Eastern European (Ashkenazi) Jewish heritage. These diseases do not just affect people of Ashkenazi Jewish heritage but are more common in this group of people. Other racial and ethnic groups have genetic diseases that are more common in their groups.
An AJGP test tells parents if they have an increased chance of having a child with certain genetic diseases. Anyone who is interested in knowing his or her carrier status can ask for the test, but a doctor must order the test. Different labs may have different tests in the panel.
Talk to your doctor about which diseases are important for your family. Genetic counselling can help you understand the test and possible results so you can make the best decision for you.
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.
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 counselling before making a decision about testing. Genetic counsellors are trained to explain the test and its possible results clearly. A genetic counsellor can help you make well-informed decisions.
An AJGP may be recommended for people of Eastern European Jewish heritage, including:
If only one member of a couple has Ashkenazi Jewish heritage, testing will be offered for Tay-Sachs disease only. If test results show that the person is a carrier of Tay-Sachs disease, then his or her partner also may be tested.
It is more common to be a carrier of a genetic disease, such as cystic fibrosis (CF), than to have the disease. If tests show that you are a carrier of a disease, your partner also should be tested. Both parents must be carriers of a disease for a child to have the disease.
The tests are not 100% accurate, so a person may test negative and yet be a carrier. If you are a carrier and your partner tests negative, there is still a very small chance that you will have a child with the disease.footnote 1
If you and your partner are both carriers of a genetic disease, there is a 1-in-4 (25%) chance that your child will have the disease.
About 90% of the time, the test accurately shows whether or not a person is a carrier of an Ashkenazi Jewish genetic disease. So there is a small chance that you may be a carrier of one of these diseases even if the test results are negative.footnote 1
The decision to be tested is a personal one. You may wish to be tested if you are concerned that you or your partner might be a carrier of a disease that is on the test panel. Being a carrier is more likely if you have a family member with the disease.
Some people decide to be tested to know their chances for having a child with a disease or for passing an abnormal gene to their child.
Carrier tests are expensive. Another factor that may guide the decision to have the tests is whether the cost of the tests is covered by your health plan.
You may decide to have carrier tests if you are already pregnant and the test results will affect your decision to continue your pregnancy or help you make decisions about caring for your baby.
If you find out you are a carrier of one of these genetic disorders, other members of your family (such as your brothers and sisters) may want to get tested, too.
There may be reasons you would choose not to have the carrier tests.
Committee on Genetics, American College of Obstetricians and Gynecologists (2009). Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstetrics and Gynecology, 114(4): 950-953.
Other Works Consulted
American College of Obstetricians and Gynecologists Committee on Genetics (2011). Update on carrier screening for cystic fibrosis. ACOG Committee Opinion No. 486. Obstetrics and Gynecology, 117(4): 1026-1031.
Committee on Genetics, American College of Obstetricians and Gynecologists (2005, reaffirmed 2010). Screening for Tay-Sachs disease. Obstetrics and Gynecology, 106(4): 893-894.
Cunningham FG, et al. (2010). Prenatal diagnosis and fetal therapy. In Williams Obstetrics, 23rd ed., pp. 287-311. New York: McGraw-Hill Medical.
Genetics Committee, Society of Obstetricians and Gynaecologists of Canada (2006). Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent. Journal of Obstetrics and Gynaecology Canada, 177: 324-332. Also available online: http://www.sogc.org/guidelines/public/177E-CPG-April2006.pdf.
ByHealthwise StaffPrimary Medical ReviewerPatrice Burgess, MD - Family MedicineBrian D. O'Brien, MD - Internal MedicineMartin J. Gabica, MD - Family MedicineSpecialist Medical ReviewerSiobhan M. Dolan, MD, MPH - Reproductive Genetics
Current as ofOctober 13, 2016
Current as of: October 13, 2016
Patrice Burgess, MD - Family Medicine
& Brian D. O'Brien, MD - Internal Medicine & Martin J. Gabica, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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