Genetic Disorders


 

Our Program

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.

Ready to get started? Email us at GeneticScreening@juf.org to get your program registration form! Otherwise, read on for more information.  

What does screening include?

The Center’s screening program uses a pan-ethnic panel that includes 56 Ashkenazi Jewish disorders and more than 125 additional pan-ethnic conditions. Women are also screened for 12 X-linked conditions. For more information and a complete list of included conditions, click here.

How does it work?

For most participants, the process is straightforward:

  • Download our program registration form. Complete and return it per the included instructions.
  • Complete the pre-screening online course. (You will receive instructions about how to access the course after registering.) After you complete the course, you will receive a call from the Center to answer any remaining questions.
  • Complete and return the test registration form to Insight Medical Genetics. (You will receive the form from the Center after you complete the course.)
  • Insight Medical Genetics will contact you if they require any additional information. Once your information is complete, they will send you a sample collection kit.
  • Provide a saliva sample using the instructions included in the kit and return it to Insight Medical Genetics.
  • In 2-3 weeks, a genetic counselor from Insight Medical Genetics will call you with your test results and provide additional follow-up counseling if needed.

If you have special circumstances that may require expedited service (e.g. if you or your partner are already pregnant), please contact Sarah Goldberg at 312-357-4994.

Cost and Billing

Before the test: Program fee

If you have private medical insurance, our program fee is $99 per person. If you do not have medical insurance, the fee is $349. This program fee covers pre-screening education and genetic counseling services. In the case of extreme financial hardship, you may be able to obtain a waiver for the program fee.

After the test: Insurance and balance bills

In most cases, IMG will bill your insurance company for the cost of the test. You may have a remaining balance after insurance coverage. If you receive a final bill from IMG, it will include information about how to request patient assistance from the Sarnoff Center for costs not covered by insurance, and an envelope to send that request to the Sarnoff Center with a copy of your bill.

Note that you may receive an Explanation of Benefits from your insurance company. The amount shown as patient responsibility on the EOB will, in most cases, not be accurate. Wait for your final bill from IMG, and information about our patient assistance program.

Patients without private insurance will also receive a bill from IMG that includes information about how to request payment assistance from the Center, and an envelope to send that request to us with a copy of the bill.

Ready to get started? Download the program registration form.

FAQ

What are the Jewish genetic disorders?

The “Jewish” genetic disorders are a group of conditions that are more common among Jews, particularly those of Central or Eastern European (Ashkenazi) descent. Although these disorders can occur in the general population, they do so at a significantly higher frequency in the Ashkenazi population. Each person of Ashkenazi Jewish descent has a 1 in 4 chance of being a carrier for one of the Jewish genetic disorders. Sephardic Jews (Middle Eastern, African or Mediterranean decent) also have conditions that are more common to their specific country of origin.

While these genetic conditions vary in severity and age of onset, most of the Jewish genetic disorders are debilitating, and some are fatal. Many of the disorders lack effective treatment at this time. Genetic counseling and carrier screening is therefore invaluable in planning for a family.

There is no set panel of Jewish genetic disorders, and different labs screen for a different number of such conditions. Our program currently screens for not only the 19 conditions recommended for those with Ashkenazi Jewish background, but also for 150+ other conditions that are inherited in the same recessive fashion. While some of these additional disorders are more common in the Jewish population, the majority are pan-ethnic conditions found in individuals of every ethnic background. Women are also screened for 12 X-linked conditions that are known to be passed down from carrier mothers to sons. 

Should I be screened for Jewish genetic disorders?

If you are of Ashkenazi or Sephardic descent (at least one Ashkenazi or Sephardic grandparent), and are planning on having children in the future, you should consider carrier screening for Jewish genetic disorders. A genetic counselor or other qualified healthcare provider can help you decide whether screening is appropriate and for which disorders to consider screening.

Is there anything else I should be screened for?

Many people choose to have an expanded carrier screening test including both Jewish genetic disorders and other more common genetic disorders. The panel offered by the Center is an expanded carrier screening test that currently includes 56 Jewish genetic disorders, and more than 125 other conditions appropriate for persons of any ethnic background. The Center’s panel also includes an additional 12 X-linked conditions for women, including Fragile X syndrome.

What if myself or my partner are of unknown, mixed, Sephardic or non-Jewish descent?

There are disorders found to be more common among those of Sephardic Jewish ancestry.  These disorders vary by country of origin. If your ancestors are from Northern Africa, the Mediterranean, the Middle East or Spain, please contact our genetic counselor to discuss appropriate testing. If you are of unknown, mixed, or non-Jewish ancestry, please also contact our counselor to discuss testing.

When should I be screened for Jewish genetic disorders?

The appropriate time for screening is best determined individually and depends on how you will use the information your results provide. If you will make decisions about pursuing a new relationship or continuing an existing relationship based on your results, then you may wish to get tested early on in the relationship, or before an engagement or marriage. If you will be using this information to make reproductive decisions with your partner, then getting tested as a married, engaged or “serious” couple is appropriate.

The Center recommends that, if possible, couples get screened prior to conception. This offers the most time to consider family planning options. However, screening is still recommended to anyone who is pregnant but has not yet been screened. Testing takes approximately two to three weeks, so please factor this turnaround time into your plans, if timing is an issue for you.

If I am already pregnant, can I be screened through your program?

Yes, but it depends on how far along you are in your pregnancy.  If you are currently pregnant, or if you become pregnant after you register, please contact the Center to discuss screening options. 

I have heard that I can order my own carrier screening via the Internet. Is that true?

There are some companies that now offer carrier screening panels through direct-to-consumer (DTC) testing.  This means that you order the testing yourself through their website, and results are released to you directly. The Center’s program is not DTC testing even though it is an online process. The Center’s program differs through its educational component, a one-on-one phone call to make sure you understand the testing process and can have any questions or concerns addressed, and a follow-up with the Center’s genetic counselor to ensure you understand your results.

The American College of Medical Genetics and the National Society of Genetic Counselors cautions consumers to consider a number of issues before pursuing direct-to-consumer testing. It is important for consumers to know exactly what testing is being ordered, if they are appropriate tests based on ethnicity and personal and family history, and what the tests will tell them. It is also important to note that Genetic counseling (via phone) is sometimes offered but usually not required through DTC testing. You should discuss this information with your doctor or a genetic counselor before pursuing such testing.

Does the program screen for BRCA or other cancer predisposition mutations?

No, the Center does not offer screening for cancer predisposition genes. Instead, we recommend those with a strong family history of breast, ovarian, colon, or other cancers meet with a genetic counselor to assess whether the cancer in their family is likely hereditary, and to discuss genetic testing if appropriate. Learn more about hereditary cancers. 

Who is eligible?

The carrier screening and education program is tailored to men and women of Jewish descent and their partners, whether Jewish or not, in the state of Illinois. If you live outside of Illinois, please contact the Center regarding local screening options that may be available to you.  You may also visit our  resources page to identify a genetic counseling service near you.  Should an individual or couple not have sufficient insurance coverage for this testing, they will be eligible for subsidized screening. Insurance coverage for carrier screening tests varies greatly by company and plan, so please check with your insurer first.

Anyone who is deemed ineligible for this program will be provided with an explanation and will be able to discuss their screening options with the Center.

Should my non-Ashkenazi or non-Jewish partner be screened?

None of the disorders we screen for are exclusive to Jews, and the genetic test available through our program includes many additional pan-ethnic conditions.  Feel free to contact us  with any additional questions or concerns. 

I have already been screened for some of these disorders. May I use the Center’s screening program?

If you have been screened through the Center’s program, you may be eligible depending on the amount of time that has passed.  If you have been screened elsewhere for a portion of the disorders, you may be eligible to participate. The Center will determine your eligibility after reviewing your registration form. Anyone who is ineligible for this program will be able to discuss their options for obtaining screening for the other disorders with the Center.

Should both my partner and I get tested, or just one of us?

This is a very personal decision. Ideally, we recommend that both partners be screened to give the most accurate risk assessment, but screening one partner also significantly reduces the couple's risks. All the disorders screened at this program are recessive, and therefore both partners would need to be carriers in order to have an affected child. No genetic test has a 100% detection rate, however, as there are always other mutations for which we do not or cannot test. This means that even if one partner screens negative for the disorders they are screened for, the risks are not completely eliminated (though still greatly reduced). Another factor to consider is timing.  If one partner is screened and found to be a carrier, the other partner must then arrange screening and await results, so this may weigh into your decision. To discuss your individual concerns about whether to test both partners, please contact the Center.   

What if only one of us gets tested, and comes back a carrier? Can the other one be screened?

Yes, the Center offers follow-up counseling and screening to the partners of carriers. If you or your partner is a carrier, our genetic counselor will review the counseling and screening options with you when they contact you with your results.

How long will it take to get my test results back after the program?

Test results typically take two to three weeks to reach a genetic counselor. All participants will receive a call with their results, and a hard copy of the results with a letter explaining their meaning. Letters are generally mailed out several weeks after results are available. Feel free to contact us to check on the status of your results.

Conditions on Panel
The Center’s screening panel is composed of 195 recessive conditions, including more than 50 conditions that are more common in the Ashkenazi and Sephardic Jewish Communities. Our panel also includes an additional 12 X-linked conditions for women, including Fragile X syndrome. More detailed information regarding these conditions can be found  here.

 

    Baby1

    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!





    CJG-Whats-In-Your-Genes

    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 !