CJG Blog

Center for Jewish Genetics blog

Our Sweet Tradition

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KeshetGadol2019

By Carol Guzman

This past summer was very busy at the Sarnoff Center!

Our associate board members spearheaded a program in July about gene-editing, “CRISPR: Is Gene-Editing Kosher?” A few weeks earlier, we were the presenting sponsor for JCC Chicago Generation J’s Shabbat on the Lake where we hosted a variety of learning programs for 700 young adults. And we started preparations on our upcoming events, Jean Therapy and “What’s Jewish about BRCA?”  But summertime is also when we get started on a very important fall project we first started in 2014.

With the High Holy Days comes the Sarnoff Center’s annual Rosh Hashanah gift bag initiative! The Sarnoff Center provides participating synagogues and Jewish communities with small gift bags to distribute to congregants for the Jewish new year. Each bag contains a caramel-apple lollipop, a honey stick and an insert that explains our programs and upcoming events.

This past week our staff distributed nearly 11,000 bags to 35 congregations and Jewish groups around Chicagoland. That’s more communities than we’ve ever reached before!

For the second year in a row, we partnered with our friends in Keshet’s GADOL program to assemble gift bags. GADOL offers vocational opportunities for young adults with intellectual and developmental disabilities, and we were beyond thrilled when they agreed to help turn bag assembly into a project for GADOL team members again this year. We truly appreciate our partnership and hope it continues for years to come.

We hope everyone receiving the bags this Rosh Hashanah enjoys the sweet treats and learns a little bit more about the programs and services we have to offer.

L’shana tovah from the Sarnoff Center staff!

BRCA-Associated Cancers You Might Not Know

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ProstateCancer

By Carol Guzman

The BRCA gene gets its name from breast cancer, a disease commonly linked to mutations of the gene. But a BRCA mutation indicates much more than just an increased risk of hereditary breast cancer in women. These mutations are also associated with ovarian cancer in women, breast cancer and prostate cancer in men, pancreatic cancer, and melanoma. Individuals of Ashkenazi Jewish ancestry may face an elevated lifetime chance of BRCA-associated cancers because they are 10 times more likely to inherit a BRCA gene mutation compared the general population.

Let’s discuss some of the lesser-known and lesser-addressed BRCA-associated cancer in honor of Prostate Cancer Awareness Month and Ovarian Cancer Awareness Month.

Ovarian Cancer and BRCA

The National Cancer Institute estimates that 17% of women with an inherited BRCA2 mutation and 44% of women with an inherited BRCA1 mutation will develop ovarian cancer by the time they are 80 years old.

Ovarian cancer is often called a “silent killer” because detecting it in its early stages is extremely difficult. Many ovarian cancer symptoms are vague and mimic things that women typically deal with regularly: bloating, constipation, abdominal and pelvic pain, fullness after eating, and menstrual changes. Women who notice these changes in their bodies should talk to their doctor if the symptoms persist for more than a few days.

There are no preventative screening tests or early-warning signs for ovarian cancer. Ovarian cancer is detectable once it occurs, but the methods used aren’t perfect. The most common are the transvaginal ultrasound (TVUS) and the CA-125 blood test. TVUS uses sound waves to look for growths inside the uterus, but it can’t identify whether a tumor on the ovaries is cancerous or benign. The blood test method checks for elevated levels of the CA-125 protein, but false positives are possible because elevated levels of CA-125 can be caused by other conditions.

Prostate Cancer and BRCA

One study estimates more than 9% of men with a BRCA1 mutation and 20% of men with a BRCA2 mutation will develop prostate cancer in their lifetimes. Some men with prostate cancer may not develop symptoms. Others experience difficulty urinating, weak or interrupted flow of urine or frequent urination, pain or burning during urination or ejaculation and constant pelvic and back pain.

Similar to ovarian cancer, there is no failproof preventative screening test for prostate cancer at the moment. A prostate cancer diagnosis can only be made with a prostate biopsy, which requires 12 small samples of the prostate to be removed and further examined. Two screening tests are commonly used, including a blood test for prostate-specific antigen levels and a doctor’s examination by hand; however, the latter is not recommended by the U.S. Preventive Service Task Force.

BRCA-Related Cancers and Genetic Testing

Meeting with a genetic counselor and, if appropriate, getting genetic testing for BRCA mutations can help identify your risk early. If cancer occurs, genetic testing can also be vital in determining which cancer treatment is appropriate for you. Ovarian cancer patients with BRCA mutations may be candidates for a new targeted therapy called a PARP inhibitor, in which an enzyme stops cancer cells from repairing themselves. Doctors use the same PARP inhibitor to treat prostate cancer patients and breast cancer patients with a BRCA mutation. Currently, there are clinical trials involving the PARP inhibitor for individuals with BRCA-associated cancers that may result in more  treatments.  

Ovarian cancer has caused more women’s deaths than any other cancer in the female reproductive system, and prostate cancer is the most common male cancer in the United States. Both cancers are difficult to catch in their early stages, but learning more about your genetic health and speaking to a genetic counselor can empower you to know whether you have a higher risk of developing these cancers and, if necessary, take steps to reduce any risk. This month consider talking to your healthcare provider about how ovarian or prostate cancer may affect you.

Picture Credit: Darryl Leja, National Human Genome Research Institute, National Institutes of Health 

New Guidelines Around Screening for Hereditary Cancer Risk

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This month, the U.S. Preventive Services Task Force (USPSTF) updated their recommendations on prevention of BRCA-related cancers. The new recommendations, published in the Journal of the American Medical Association (JAMA), expand upon previous guidelines developed in 2013 and now include recommendations for individuals of high-risk ancestry.  What does this mean for Jewish women? We’ll break it down.

What is the U.S. Preventive Services Task Force?

The USPSTF is an independent, volunteer panel that provides evidence-based recommendations on what preventive services primary care clinicians should offer their patients. The Task Force assigns letter grades to each service it reviews to indicate the balance of expected benefits and harms, as well as the level of certainty based on scientific evidence.

Interventions with the grades A or B are recommended, and the Affordable Care Act requires private insurers to cover those services with no cost-sharing (i.e., there is no out-of-pocket cost to the patient). The Affordable Care Act also requires Medicaid to cover those services and authorizes Medicare to do so. 

What did they recommend before?

The USPSTF previously recommended that primary care providers screen women with a family history of breast, ovarian, tubal, or peritoneal cancer to identify whether they are appropriate candidates for genetic counseling and possibly BRCA testing.

This screening involves the clinician going through a risk assessment questionnaire or checklist. The risk assessment can identify a family history suggestive of a possible BRCA1/2 mutation. If screening indicates that hereditary cancer may run in a patient’s family, her primary care provider should then refer her to genetic counseling.

What are they recommending now, and how is it different?

The updated recommendation adds women who have ancestry associated with BRCA1/2 gene mutations and women with a personal history of breast, ovarian, tubal, or peritoneal cancer to the list of those who primary care providers should screen for hereditary cancer risk. The recommendation does not specifically mention any ethnicity or ancestry, but Ashkenazi Jewish ancestry is most strongly associated with BRCA1/2 mutations. 1 in 40 women of Ashkenazi ancestry carries a BRCA1/2 mutation compared to about 1 in 300 women in the general population.

What does this mean for you?

Primary care providers and women’s healthcare providers often already ask their female patients about family history of cancer. This recommendation encourages them to also ask about ethnicity and prior personal cancer diagnoses and use that information to initiate screening for hereditary cancer risk. If you meet the criteria, most insurance should cover this screening with no out-of-pocket cost to you. These recommendations apply to anyone assigned female at birth, as BRCA-related cancer risks are tied to biological sex.

The risk assessment screening relies on information about family health history, so the screening is most effective if you know about any history of cancer in your parents, grandparents, aunts, uncles, siblings, and children, including their age at diagnosis. You can find family health history tools on the Sarnoff Center website.

If you are a woman with Ashkenazi Jewish ancestry and you have not yet discussed hereditary cancer risk with your primary care provider, your next checkup is a great time to start the conversation—and to mention that you have Ashkenazi Jewish ancestry.

For additional information and discussion of this change see:

A flow chart below describes the updated recommendation.

USPSTF Flow Chart



Wrapping Up the Summer

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By Elianna Miller

LSIP presentation

I feel absolutely honored to have been the Lewis Summer Intern at the Norton and Elaine Sarnoff Center for Jewish Genetics. My desire to be a genetic counselor has been strengthened, and I discovered a passion for the community that I want to implement into the workplace. I learned how empowering it can feel to provide an entire community with genetic information.

I was highly integrated into the Sarnoff Center team by contributing to the Center’s blog, working on community outreach, and analyzing data for a community wide cancer survey that was sent out before my internship began. I worked on a very high functioning team, where everyone has a different educational background and desire for the community. Everyone brings their own skill set that makes the rest of the team stronger. While being in undergrad still made me have the smallest toolbox to bring, I still saw some of my work be a part of the big picture that makes up the Sarnoff Center.

The main goal of the Center is community education and engagement. I developed a presentation on Jewish genetics to inform the other 41 Lewis Summer Interns that worked all across the Jewish United Fund and agencies. The presentation was accompanied with a pre- and post- survey to see how knowledge and attitudes changed about recessive disorders, hereditary cancers, and health history. I found that people felt engaged throughout the 30-minute Prezi, and enjoyed interactive pieces. They seemed to have gained the most knowledge on the topic of hereditary cancers, as a lot of them self-reported a great increase in knowledge on BRCA mutations. All of the post-survey respondents also noted that they now understand how important it is to obtain family health history, which is a health behavior that even college students can start doing now.

Through all these work experiences and tasks, my mind has been very widely opened. Again, I aspire to be a genetic counselor, and I now know many ways that this can look. Articulating my thoughts on the field was difficult before, but now I have enough knowledge to accurately describe my desires and passions. I am very grateful for my placement this summer and look forward to the many doors that will open because of it. As I head back to Columbus for my final semester of my undergraduate career at The Ohio State University and whatever comes next, I know that I will never forget this outstanding experience.

Baby1

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.

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 . 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 .