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ABOUT JEWISH GENETIC DISORDERS AND SCREENING
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. Every person of Ashkenazi Jewish descent has a 1 in 4 chance of being a
carrier for one of the Jewish genetic disorders. Sephardic Jews (those of 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 may therefore be 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. At our program we currently screen for not only the 19 conditions
recommended for those with Ashkenazi Jewish background but also 60+ other conditions that
are inherited in the same fashion as the nineteen. Please see our website for more
information about these disorders.
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 may want to 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?
The Center is now able to offer an expanded panel of tests called the Counsyl Universal Genetic
Test (www.counsyl.com/diseases). This screens for over 60+ recessive disorders, in addition to
the 19 Jewish genetic disorders, and is designed for people of all ethnic backgrounds. The
additional conditions vary greatly in terms of frequency, severity and treatment options. The
panel can also include Fragile X syndrome, a common genetic cause of mental retardation in
males, caused by a mutation on the X chromosome. The cost of the Prenatal panel is the same
as the panel of Jewish genetic disorders. Fragile X testing is included in the pricing of this test.
If you or your 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. The Counsyl Prenatal Genetic Test (Please see “Should my nonAshkenazi or non-Jewish partner be screened”) may be an option for you.
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 engagement or marriage. If you will be using
this information to make reproductive decisions as a committed couple, 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 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 Aishwarya Arjunan, the Center’s
genetic counselor, at [email protected] or (312) 357-4658 to discuss screening
options.
How much does Jewish genetic disorder screening cost?
Screening for Jewish genetic disorders can be very expensive if it is not fully covered by
insurance, with out-of-pocket costs as high as $4,000 or more per person, depending on copayments and deductibles.
The Center is pleased to be able to hold programs at which this screening can be done for a
subsidized rate of $199 per person. The subsidized screening is made possible by a grant from
the Jewish Federation of Metropolitan Chicago. If you have any type of insurance coverage,
your costs may be less. Please see the section below entitled “How much does the program
cost?”
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. View our website for more information.
OUR PROGRAM
What is the Genetic Education and Screening for Young Jewish Adults Program?
Genetic Education and Screening for Young Jewish Adults is a subsidized genetic education,
counseling and screening program offered by the Center for Jewish Genetics bimonthly. The
program is funded by a grant from the Jewish Federation of Metropolitan Chicago.
What does the program include?
The program includes:
 Live educational webinar with the Center’s genetic counselor from Ann & Robert H.
Lurie Children’s hospital of Chicago.
 One-on-one phone call with the Center staff to answer any and all questions you may
have.
 Genetic screening for the panel of 19 Jewish genetic disorders or the expanded
Universal panel.
 A DNA saliva sequencing kit delivered to your home with a pre-addressed/pre-stamped
box for sending it back.
 The Center’s genetic counselor will follow-up with each individual regarding their
results. Please note that the Center’s genetic counselor is available whenever you have
questions or concerns throughout the process and afterwards.
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 screening if appropriate. For more information on hereditary cancer, please visit our
website at www.jewishgenetics.org.
How much does the program cost?
The subsidized screening costs $199 per person, although it may cost less depending on your
insurance coverage. The Center guarantees that if you use insurance, you will be responsible
for no more than $199 even if insurance denies coverage for the test. If your insurance does
cover part of the testing then your responsibility would be the difference remaining.
What if I have to cancel?
If you have to cancel, we ask that you notify Center staff, as each webinar has a limited number
of participants allowed.
Is this program the same thing as Dor Yeshorim?
No. Dor Yeshorim is a confidential genetic screening system used mainly by Orthodox Jews in
which participants are given an identification number, but not their actual test results.
Participants then use the system to learn their genetic “compatibility” with potential marital
partners. If individuals have received testing anywhere other than DorYeshorim, or are already
engaged or married, they are not eligible to use the DorYeshorim system.
The Center’s Genetic Education and Screening Program is different from DorYeshorim in that
participants do receive their test results and find out if they are carriers for a particular
recessive disorder. Additionally, many of our program participants are already in relationships
and are therefore no longer eligible to use DorYeshorim.
For more information, see the DorYeshorim page of our website or call their New York office at
(718) 384-6060.
How long will it take to get my test results back after the program?
Test results take up to three weeks to reach our genetic counselor. She then calls all individuals
who are carriers, and emails all non-carriers. All participants will receive a hard copy of the
results and a letter explaining their meaning. Letters are generally mailed out several weeks
after results are available. Feel free to contact our genetic counselor to check on the status of
your results.
ELIGIBILITY AND INSURANCE
Who is eligible for the subsidized screening?
In general, individuals of Ashkenazi or Sephardic Jewish descent who have not been screened
for these disorders would be eligible for the subsidized screening. In order to determine
eligibility for this program, an individual must complete a registration form and return it to the
Center for review. Anyone who is ineligible for this program will be provided with an
explanation and will be able to discuss their screening options with the Center’s genetic
counselor.
Should my non-Ashkenazi or non-Jewish partner be screened?
Should my non-Ashkenazi or non-Jewish partner be screened?
While none of the disorders we screen for are exclusive to Jews, the new updated genetic test
that we are offering at our program will look for any disease causing mutation, regardless of the
ethnicity, linked to these conditions making this one of the most comprehensive carrier
screening tests available. Feel free to contact our genetic counselor with any additional
questions or concerns.
I have already been screened for some of these disorders. May I attend your program?
If you have previously been screened for some of the disorders through the Center’s subsidized
program, you are not eligible to receive a second subsidy. If you have been screened elsewhere
for a portion of the disorders, you may still be eligible for the subsidized screening. The Center’s
genetic counselor 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’s genetic counselor. Contact Aishwarya Arjunan, the
Center’s genetic counselor, at (312) 357-4658 or [email protected].
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
Aishwarya Arjunan, the Center’s genetic counselor, at (312) 357-4658 or
[email protected].
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, the Center’s genetic counselor will review the counseling and
screening options with you when she contacts you with your results.
THE REGISTRATION PROCESS
How do I sign up for your next live webinar?
Once registration is open, you may sign up for the webinar by filling out our online form at
www.jewishgenetics.org/register. After submitting the form, a Center staff member will contact
you regarding next steps.
How do I know when a program date is announced and registration has opened?
Our email newsletter is the best way to keep informed of our upcoming programs and events,
including but not limited to our genetic screening programs. Contact Alyssa Cohen at (312) 3574946 or [email protected] to be added to the e-newsletter list.
Do I pay when I register for the program? How do I pay?
No. Payment for the testing will come directly from the testing laboratory, Counsyl, after you
provide your saliva sample. Counsyl will bill the cost of the testing to your insurance provider
and will bill you no more than $199 depending on insurance coverage. For more details on
payment structure, please see above, under, “How much does the program cost?”
Whom do I contact if I have additional questions about the screening program?
Please contact Alyssa Cohen at (312) 357-4946 or [email protected] with any further
questions.

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