Carrier Screening

Carrier screening tests parents-to-be (either before or early in pregnancy) to determine a child’s risk of inheriting genetic disorders. 

Anyone with at least one parent, grandparent or great-grandparent of Ashkenazi heritage should consider genetic screening. Partners of people with Jewish ancestry should consider screening as well.

Although Jewish genetic disorders are more common among Ashkenazi Jews, no disorder is exclusive to the Jewish population. Screening provides valuable information for Jewish individuals with Jewish partners and with non-Jewish partners.

Persons with Sephardic Jewish heritage or other Jewish ethnic backgrounds should also consider expanded carrier screening that includes conditions more common among populations from their ancestors’ region of origin.

If your ancestors are from Northern Africa, the Mediterranean, the Middle East or Spain, please contact our counselor to discuss testing.

You should consider expanded carrier screening, such as the program offered by the Sarnoff Center for Jewish Genetics, because some genetic conditions are 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, or are of unknown, mixed, or non-Jewish ancestry, please contact our counselor to discuss the most comprehensive testing.

We recommend both partners consider screening to have the most accurate risk assessment for genetic conditions. Screening only one one partner still significantly reduces a couple’s shared risk, but provides a less complete picture.

That’s because, while our test is highly accurate, no genetic test has a 100% detection rate. Furthermore, there are conditions for which we do not or cannot test. Even if one partner screens negative for certain disorders, risks of genetic disorders can never be completely eliminated. 

Additionally, it is faster to screen both partners at the same time, rather than waiting for one partner’s results before starting the process a second time for the other partner.

The Sarnoff Center’s screening program uses Next Generation Sequencing (NGS), which is the most advanced form of testing available today and provides the most accurate detection rates. NGS screening requires either a blood or a saliva sample. Most participants in our screening program provide a saliva sample. In some cases, a participant may want or need to provide a blood sample instead.

If you get screened through your healthcare provider, keep in mind that different laboratories use different methods of sample collection and provide testing using different technologies. Most NGS panels include most, or all, of the Jewish genetic disorders, as well as a number of other pan-ethnic conditions. But, the type of testing and number of conditions that doctors order can vary. It’s important to tell your doctor about your (or your partner’s) Jewish ancestry and ask about the screening they order. 

We have a genetic counselor available to answer any questions you have about the process. Our genetic counselor also reviews every intake form prior to ordering the screening panel. Some people also discuss genetic conditions and preconception or prenatal carrier screening with their primary care doctor or OB/gyn, who can order genetic testing or refer you to a specialized provider.

We recommend screening prior to conception when possible. Testing takes about three weeks, so please factor this turnaround time into your plans.

Yes, screening in the earlier stage of pregnancy is still possible. If you are currently pregnant, or learn you’re pregnant after you register for our program, please contact us to discus screening options. 

The Sarnoff Center offers separate testing for hereditary cancer syndromes genes. We test for 63 different genes including the BRCA1 and BRCA2 genes. You can register for both programs at the same time or each program individually. You can learn more about the program here.

If you have already completed our screening program, you may be eligible for re-screening, depending on the amount of time that has passed. If you received screening elsewhere, you may be eligible to participate in our screening program. The Sarnoff Center will determine your eligibility after reviewing your registration form. If you are not eligible for our screening program, we will contact you to discuss other screening options. Additionally, if you have any questions, you can contact us at any time. 

Carriers of a genetic condition typically do not develop the condition 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. 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, a genetic counselor and your doctor can help you navigate any next steps. 

Yes, the Sarnoff 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.

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. A genetic counselor and/or your healthcare provider can provide personalized information so you can make the best choice for your family. If you need help identifying resources, please contact the Sarnoff Center. 

Some companies now offer direct-to-consumer (DTC) carrier screening panels. This means that you order the testing yourself through their website, and results are released to you directly. Although it is an online process, our program is NOT direct-to-consumer because it includes an educational course and genetic counseling. Our genetic counselor will review your intake form prior to ordering your test and will call you with your results to ensure you can ask any questions.

The American College of Medical Genetics and the National Society of Genetic Counselors cautions consumers to consider several 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 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.

The Sarnoff Center for Jewish Genetics is not affiliated with Dor Yeshorim. We also follow a different model. Our screening process will provide detailed results of your genetic screening test while Dor Yeshorim is a confidential matching service that provides information about the genetic compatibility of two people but does not reveal individual screening results.

Using a screening service like ours may affect your eligibility to receive testing from Dor Yeshorim. Dor Yeshorim also has specific requirements around engagement or marital status while our services do not.

You can learn more about Dor Yeshorim by calling (718) 384-6060.