Genetic Disorders


 

1 in 4 Ashkenazi Jews is a carrier for at least one “Jewish” genetic condition, and Sephardic Jews are also at increased risk for certain genetic disorders. More than half of participants in our screening program are carriers for one or more of the 190+ conditions on our expanded carrier screening panel.

Read below for more information about carrier screening for Jewish genetic disorders. If you’re in Illinois and seeking screening through our program, click Get Screened and learn how to get started.   

Who Should Consider Screening for Jewish Genetic Disorders?

All persons with at least one parent, grandparent, or great-grandparent of Ashkenazi (Central or Eastern European) Jewish heritage should consider screening for Jewish genetic disorders.

Although more common among Ashkenazi Jews, none of these disorders are exclusive to the Jewish population. This means that screening can still provide valuable information for Jewish individuals with a non-Jewish partner.

Persons of Sephardic Jewish heritage and their partners may consider expanded carrier screening that includes conditions more common among Sephardic populations with origins in different countries. 

When Should I Get Screened?

If possible, persons at higher risk for having a child with a genetic disorder should seek screening prior to pregnancy. Knowing your carrier status before pregnancy gives you the most options when planning your family.

Carrier screening is also available if you or your partner are already pregnant. Performing carrier screening as early as possible during pregnancy is advisable, as it provides couples with more time for counseling and decision-making. In the event that you and your partner are both carriers for the same condition, you can consider prenatal diagnostic testing.

What Does Screening Involve?

Different laboratories use different methods of sample collection, and provide testing using different technologies. The most advanced form of testing available today is Next Generation Sequencing (NGS), which provides the highest detection rates. Most NGS panels include most, or all, of the Jewish genetic disorders, as well as a number of other pan-ethnic conditions. It is important to note that not all doctors order all types of genetic testing, or all the conditions on a large carrier screening panel.

NGS screening requires either a blood or a saliva sample. Although saliva is adequate in many cases, your healthcare provider may prefer to collect a blood sample. 

What If I’m a carrier for a genetic disorder?

Carriers of a genetic condition do not develop the disease themselves, so there is no need for treatment. However, carriers can pass on the disease to their children.

For some recessive disorders, carriers may have mild symptoms. In these cases, a genetic counselor can provide guidance on potential health risks associated with being a carrier.

In rare instances, carrier screening may reveal that a person has a less severe or late-onset form of a genetic disorder. In these cases, your doctor can provide you with appropriate options.   

Can I still have children?

Yes! Carrier couples build healthy families every day. Based on your carrier status and at what stage of family planning you receive testing, you have many options. The Norton & Elaine Sarnoff Center for Jewish Genetics includes information about options on its website, and can also help community members find additional help.   

How do one of these disorders pass on to my children?

Jewish genetic diseases are inherited in an “autosomal recessive” pattern, meaning both you and your partner have to be carriers of the same genetic condition to have an affected child.

If you and your partner are carriers for the same disease, with each pregnancy, your child will have a 25% chance of being affected, a 50% chance of being a carrier and a 25% chance of being neither affected nor a carrier.  

How Do I Get Screened?

If you think you’re at risk for Jewish genetic disorders, you have several options to get screened. Many people start by having a discussion with their doctor who may order the testing themselves, or may refer you to a specialized provider for genetic counseling and testing services. Alternatively, you may have the option of making an appointment directly with a provider specializing in these services.

Due to the serious impact of these conditions in the Jewish community, many community-based programs exist to increase access to carrier screening for Jewish and Interfaith couples. In Illinois, the Norton & Elaine Sarnoff Center for Jewish Genetics facilitates one such program. If you are in another part of the United States, or even elsewhere in the world, the Center can help you locate a local resource.

Note that the cost of testing can vary widely depending on your individual insurance coverage. Some community-based screening programs offer subsidized screening services.

Affordable, Accessible Carrier Screening in Illinois

The Norton & Elaine Sarnoff Center for Jewish Genetics wants carrier screening to be accessible to all Jewish and interfaith couples in Illinois. The Center’s convenient online, on-demand model allows most participants to complete the program from the comfort of their own home.

The program fee includes pre-screening education and support, and genetic counseling services provided through a collaboration with Insight Medical Genetics. The cost of the test is billed to your insurance, and if you have a patient responsibility, your final bill will include information about how to request payment assistance from the Sarnoff Center for Jewish Genetics.



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We are proud to announce that our Carrier Screening Program is open with our new medical provider Insight Medical Genetics (IMG). Visit our Get Screened page to learn more about our program and how to register!





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Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Be sure to check with your relatives for warning signs and assess your risk for hereditary cancers!

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more !