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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
can cause early death, 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
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.1
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Ashkenazi Jewish genetic panel (AJGP) is a blood test that checks to see if a person is a carrier of a genetic
disease that occurs 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.
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 counseling can help you understand the test
and possible results so you can make the best decision for you.
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
ethical, religious, or legal concerns. You should have
genetic counseling before making a decision about
Genetic counselors are trained to explain the test and
its possible results clearly. A genetic counselor can help you make
An AJGP may be recommended for people of
Eastern European Jewish heritage, including:
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 should 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 get the
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
If you and your partner are
both carriers of the same 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.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. For example, among people of Eastern European Jewish heritage,
about 1 out of 29 is a carrier of a gene for
cystic fibrosis (CF).1 The CF gene is less common in
other racial and ethnic groups.
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 insurance company.
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.
This organization provides public and professional
education about Jewish genetic disorders. It also promotes screening and
prevention programs, information, and referrals.
The Genetic Alliance is an international organization
made up of millions of people with genetic conditions and more than 600
advocacy, research, and health care organizations that represent their
interests. The Alliance builds partnerships to promote healthy lives for all
those living with genetic conditions.
The Genetic Alliance
promotes healthy lives by working to speed the translation of genetic advances
into quality and affordable health care, public awareness, and
consumer-centered public policies.
The Genetics Home Reference provides information on hundreds of genetic conditions. The website has many tools for learning about human genetics and the way genetic changes can cause
disease. It also has links to additional resources for people who
have genetic conditions and for their families.
The Jewish Genetic Disease Consortium (JGDC) is a
collection of smaller, individual organizations that have banded together to
raise awareness of Jewish genetic diseases. The Consortium offers resources to
educate people about carrier screening and how it can help prevent the birth of
children with genetic conditions.
The Victor Center provides information about Jewish genetic conditions and promotes Jewish community education programs. The Center also conducts screening programs for healthy people at risk for being carriers of a gene mutation for a Jewish genetic diseases. The website has resources for the general public, health professionals, and clergy.
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 (2009). Preconception and prenatal carrier
screening for genetic diseases in individuals of Eastern European Jewish descent. Obstetrics and Gynecology, 114(4): 950–953.
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.
March 28, 2012
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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