CJG Blog

Center for Jewish Genetics blog

The Gene Scene (Under Quarantine)

 Permanent link


While official recommendations continue to change daily, JUF remains ready to do all it can to help those in need.

Even though this post is being written from the author’s kitchen table, we want you to know the Norton & Elaine Sarnoff Center is open for business.

Learning goes online: We had to postpone our “What’s Jewish about Hereditary Cancer?” panel event when JUF canceled all in-person events through the end of April. However, we’re still providing online educational opportunities. On March 18, health education program manager Becca Bakal hosted a Zoom webinar where she presented on Jewish genetic health concerns such as hereditary cancers and recessive genetic disorders. On March 30 and April 2, Becca will facilitate additional webinars concerning Jewish genetic disorders, hereditary cancers, and genetic counseling and testing. Follow our Facebook page to learn more about upcoming online programs. 

Screening is easy from home! Our convenient online, on-demand carrier screening program allows individuals to register for the program from the comfort (and safety) of their own home. Our medical partner, Insight Medical Genetics, is still able to get carrier screening kits to participant’s homes. Participants can still expect results from our genetic counselor three to four weeks after the lab receives their sample collection kits. If you want more information, program associate Carol Guzman continues to be on-call to answer any questions. You can reach her at (312) 444-2847 or geneticscreening@juf.org.

These are challenging times. But we’re here for you, and we wish you and your family good health.

For the latest information from JUF, please visit juf.org or the JUF Facebook page.  

Protecting Against Genetic Discrimination in Illinois

 Permanent link


Effective this year, a new state law prevents direct-to-consumer (DTC) genetic testing companies like 23andMe and Ancestry from sharing Illinoisans’ genetic data without permission. The amendment to the state’s Genetic Information Privacy Act adds a provision that limits how DTC test services can use data they collect from customers.

Sarnoff Center health education program manager Becca Bakal spoke with genetic counselors Shelly Weiss McQuaid and Sara Cherny about the new law. Both practice at the Ann & Robert H. Lurie Children’s Hospital of Chicago and serve on the Illinois Society for Genetic Professionals (ISGP) Executive Board. McQuaid also sits on the Board of Directors of the Norton & Elaine Sarnoff Center for Jewish Genetics.

This conversation has been edited for length and clarity.

Becca Bakal: Tell me about the new law in Illinois to regulate the use and sharing of genetic information.

Shelly Weiss McQuaid: The law focuses on information from DTC genetic testing, which is testing ordered by a consumer, not a clinician. It specifies that DTC test companies cannot share genetic information with companies making determinations about insurance, and essentially applies to life insurance and long-term care insurance. It does increase the protections in Illinois for individuals, but not as widely as protections that we hope to see in the future.

Bakal: What doesn’t the new law cover?

Weiss McQuaid: It doesn’t impact protection of any clinical genetic testing— the tests that we order for our patients as genetic counselors. So this law does not protect against the use of clinical genetic test results by life insurance and long-term care insurance companies.

Sara Cherny: There is a federal law, the Genetic Information Nondiscrimination Act (GINA), that provides some other protections. GINA prohibits employers and health insurance companies from discriminating based on genetic information in most cases. Even with GINA and this updated Illinois law in place, there is a possibility that [insurance companies] can ask about clinical genetic test results and then use that information to change pricing or deny coverage. We don’t know if they would do that, but some individuals choose to put the insurance protection in place before they ask the genetics question.

Bakal: I see. Does ISGP hope to address that issue?  

Weiss McQuaid:  Yes. Our ultimate goal is to be able to share with the patients we’re serving that there are no gaps in the protections from genetic discrimination. ISGP is working with our legislative counterparts and we hope to update the Illinois law. Several members of the ISGP are going to Springfield for DNA Day [April 25] to share what we do and start to plant seeds for this agenda.

Cherny: I think there are also opportunities to expand GINA. If you can get change at any level—in Illinois, federal legislation, or other states’ legislation—you can use those changes to build on each other. It is all about incremental change.

Bakal: What advice do you have for folks who might be considering genetic testing?

Weiss McQuaid: Pursue genetic testing with a licensed genetic counselor, as they will be able to share information about privacy laws with you proactively and answer any questions to help support your decision-making process. In general, genetic counselors can help you think about what information you are hoping to uncover with genetic testing and how you might use that information. Genetic testing is optional, and that is information someone should have as they are considering their options.

Cherny:  Sometimes folks assume that if you’re coming to a genetic counselor, it is to obtain genetic testing. In actuality, genetic counselors are there to discuss benefits and limitations of genetic testing, and also to help an individual or family talk through their priorities. In some cases, this also includes thinking through how the laws might apply to their particular situation.

To learn more about ISGP, visit illinoisgenetics.org. To talk to the Sarnoff Center’s genetic counselor, contact us at (312) 357-4718 or geneticscreening@juf.org.

Picture credit: Jimmy Emerson, DVM

Rare Disease Day and Jewish Genetic Disorders

 Permanent link


By Carol Guzman

This year, Rare Disease Day falls on the rarest day on the calendar: Feb. 29. Rare Disease Day helps raise public awareness about rare diseases and the impact that they have on patients’ and loved ones’ lives. Though an international event, it’s led in the U.S. by the National Organization for Rare Disorders, or NORD.

According to a 2019 study, there are more than 6,000 rare diseases around the world, and over 72% of them are genetic. Rare diseases affect people all around the world, but a person’s ancestral and genetic background can affect the likelihood that they carry certain rare conditions. It is estimated that at least 1 in 4 people of Jewish descent are carriers for so-called Jewish genetic conditions, which received their name because individuals with Jewish ancestry carry changes for these diseases 20 to 100 times more frequently than among the general population. A majority of the 51 Jewish genetic diseases included on the Sarnoff Center’s carrier screening panel qualify as “rare” diseases because they affect fewer than 200,000 people in the U.S.

In honor of Rare Disease Day, we hope to bring light to two perhaps lesser known Jewish genetic disorders: Gaucher disease and Canavan disease.

Gaucher disease type 1 is the most prevalent inherited disorder among people of Jewish decent. One in 15 people of Ashkenazi Jewish ancestry and 1 in 125 people of Sephardic Jewish ancestry are carriers for Gaucher. The disease itself affects 1 in 500 Jewish people of Ashkenazi descent.

For comparison, the better known Tay-Sachs disease has a carrier frequency rate of 1 in 27 among Ashkenazi Jews and 1 in 125 among Sephardic Jews.

Gaucher disease occurs when a mutation in the GBA gene harms an enzyme’s ability to break down certain fat molecules, which can lead to toxic levels of the fat building inside the spleen, liver and bone marrow cells. There are various Gaucher disease types because the accumulation of the fat molecule can affect the brain and body in various ways. Gaucher symptoms include a swollen belly, bone pain, anemia and bleeding or bruising. Because these symptoms are so common and vague, many cases of Gaucher go misdiagnosed.

While carriers of recessive disorders are generally healthy and do not often experience symptoms of the conditions, studies indicate that carriers with a specific mutation for Gaucher disease may also have an increased risk of developing Parkinson’s disease.

Another disease that has one of the highest carrier frequency rates in the Jewish population is Canavan disease. One in 57 people of Ashkenazi Jewish ancestry are carriers for Canavan, versus 1 in 159 people in the general population. Various mutations in the ASPA gene stop brain nerve cells from properly sending or receiving information, causing a slow degradation of the brain’s white matter. Children with the disorder typically have a larger head, poor motor skills, weak muscle tone, and difficulty eating and sleeping. Modern medicine can treat Canavan’s symptoms, but there is no U.S. Food and Drug Administration-approved cure or treatment for Canavan disease.

Unfortunately, Canavan disease is not an outlier. More than 90% of rare diseases do not have an FDA-approved treatment. On March 4, patients, their families, and medical professionals will be going to Springfield, the Illinois state capital, to meet with Illinois legislators and advocate for better opportunities and care for rare disease patients. See how you can get involved in raising awareness of rare diseases and how you can support more than 300 million affected people around the world at rarediseaseday.org.

Engaged? Jewish Traditions Before a Wedding

 Permanent link


By Carol Guzman

Believe it or not, Valentine’s Day is one of the most popular days to get engaged. Perhaps, like me, you’ve noticed a lot more engagement notifications or engagement photoshoots show up on your Facebook feed. According to Brides, there is an uptick of engagements that take place during December through March. As many of my friends prepare to take the next step in their relationship (MAZEL TOV!) below are some Jewish customs that couples may partake in during their engagement.

  • Have a family member or close friend throw you a L’ Chaim: Similar to an engagement party, a l’chaim is a celebration where an engaged couple’s family and friends gather together to congratulate the couple as they begin to plan for their big day.
  • Tena’im: Literally meaning the ‘conditions,’ the tena’im is a document that signifies two families approving a match between their children. The document can include instructions for finances, the time and date of the wedding, and the penalties each family will face if either person decides to back out. It is also customary for attendees to smash a plate to commemorate the families’ approval of the union. The tena’im is a tradition that has evolved over time and has modern reinterpretations. 
  • Aufruf: On a Shabbat service before the wedding ceremony, the couple is called up to the bimah, a synagogue’s elevated platform, and is given the honor of an aliyah, the recitation of the blessing before and after the Torah reading. Once the couple has finished reciting the blessing, it is customary for congregants to pelt throw fruit gummies at the couple to wish them a sweet and happy marriage. 
  • Find a Wedding Officiant: A wedding officiant is a wonderful resource that can help the couple incorporate Jewish traditions to make the wedding a meaningful Jewish event. Whether you opt to have Jewish clergy, or a close friend officiate the wedding, the earlier you communicate what ceremonial traditions are important to you the better. Clergy members may also provide pre-marriage counseling which can help the couple visualize and prepare for their future together.

  • Genetic Screening: During your pre-marital counseling sessions, your wedding officiant may recommend getting carrier screening during your engagement. At least one in four individuals of Ashkenazi Jewish descent is a carrier for at least one “Jewish” genetic condition. However, it is important to note that while individuals with Jewish ancestry are more likely to carry some of these conditions, anyone, regardless of ethnicity, can be a carrier of any condition. Therefore, it is important for Jewish and interfaith couples to know their carrier status when planning for a family.

The Sarnoff Center wishes you mazel tov on your engagement! Whether or not you choose to incorporate some of these customs during your engagement, remember to focus on what is most important – your relationship to each other.

To learn more about the Sarnoff Center’s affordable, accessible carrier screening program or to speak with a genetic counselor, visit JewishGenetics.org/cjg/get-screened or contact us at GeneticScreening@juf.org.


Affordable, Accessible Genetic Screening in Illinois

Our affordable, accessible carrier screening program uses advanced technology to provide comprehensive screening for Jewish and interfaith couples. Visit our Get Screened page to learn more and register.


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 . Talk to 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 .