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Educating Our Educators: Part 3

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A few weeks ago I had the opportunity to meet with some of the Rabbis and educators at the Manhattan Jewish Experience (MJE) on Manhattan’s West Side. MJE is a cutting edge program for young Jewish professionals in their 20’s and 30’s, with little or no background in Judaism who are interested in connecting more to each other, to their community, and to Judaism. MJE is a place where young men and women can explore Jewish life and meet new people.

Prior to our session, we had begun to discuss some of the issues related to Ashkenazi Jewish carrier screening which were unique to this community, but I was definitely not prepared for how unique the needs of this community are!

Broaching the topic of genetic testing for this community is completely different than for individuals who grew up hearing and knowing about it. Many couples who come to our office for carrier screening are already familiar with my shpiel. However for many in this community, the idea that they could potentially be at risk to have a child with a genetic disease specifically because they are Ashkenazi Jews is a completely new concept.  Thinking about when is the right time to bring up the concept of Jewish genetic disease carrier screening and when the right time for having the testing done was also definitely a challenge. Especially when you are trying to make sure that these individuals and couples don’t get overwhelmed by the concern that they could have a child who is affected.

As always, there is no “cookie-cutter model” which will work for each couple and individual, but I believe the best line from our discussion was, “this doesn’t have to be stressful.” Carrier screening is, and should be seen as routine. This does not need to add on unbelievable stress for an individual or to a relationship.

We’re looking forward to working with the MJE in the future, as they continue to determine how best to approach their community on these issues.

Do I really have to wait??

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 “I’m dating this girl and we want to get engaged really soon (i.e.- tomorrow, latest next week). I figured we should do that ‘genetic testing thing’. Do you think we need to wait to get engaged until after the results come back?”

I get this question ALL THE TIME. The truth is, it depends. It depends on you, and how this information might be useful for you.

If you want your results strictly for informative purposes, i.e.- you’re going to get married no matter what, even if you are both carriers of the same genetic disease and have a 25% chance in each pregnancy to have an affected child, then no- you don’t have to wait to get engaged. There absolutely are options out there that can help you have a healthy family. I would still recommend undergoing testing sooner rather than later, because it may be useful to know what you’re getting into and begin learning about and speaking with your partner about your options before you both consider a pregnancy.

HOWEVER, if you might not continue the relationship if you and your partner are both carriers of the same condition and are at risk to have an affected child, then you absolutely should wait to get engaged. These genetic testing results could identify that you and your partner are at risk to have an affected child.  After all, that’s why we do the testing to begin with. If I could tell by looking at you that you weren’t a carrier then this whole “genetic testing thing” would be a bit redundant. It is never easy to end a relationship; however it is definitely easier, and less traumatic to break up a relationship prior to getting engaged as opposed to afterwards.

Unfortunately, many people wait until the very last moment to have Ashkenazi Jewish carrier screening, as a “just in case” sort of check, and they expect (and hope) that the results will be normal. About 1 in 100 (1%) couples of Ashkenazi Jewish descent are both carriers of the same genetic disease. As far as I’m concerned, testing should definitely be done before a pregnancy, but past that, you have some leeway in terms of when you’d like the testing to be done.

Personally, I did this testing before I even met my husband. I wasn’t even dating anyone at the time. I just felt that the information would eventually be useful, and I wanted it to be there, ready and waiting for me when I needed it. Genetic testing results are different than other types of blood tests as the results do not change. Once you’ve had the testing, those results are yours and do not change from year to year. However, you should update your testing as new disorders are added to the panel over time.

Thinking Outside the Lines


A few weeks ago, Emily, one of my fellow genetic counselors, saw an Ashkenazi Jewish young woman and her mother for counseling. The reason for their visit was because the mother has a BRCA mutation, which means that she carries a genetic mutation which dramatically increases her risk to develop breast and ovarian cancer. It also means that each of her children has a 50% risk of inheriting the same mutation.

As in any genetic counseling session, Emily took a detailed family history. Her questioning led her to learn some new facts about the young woman: she was only half Ashkenazi, and she and her husband had already done some carrier screening for common diseases in the Ashkenazi population that could affect offspring a few years earlier, and were found to be genetically ‘compatible.’  Emily recommended that she update her panel, despite her only being half Ashkenazi, since she was not tested for the whole battery of tests that is available today. The thought of updating had never crossed her mind. The young woman also had BRCA testing on that day, which at the time, was more anxiety-provoking since its potential results carried more ramifications to her own health.

About 2 weeks later, the results were in. It turns out she was a carrier for 3 ”Ashkenazi Jewish” diseases that she was not tested for earlier! A triple carrier! Had Emily not taken the time to take the family history and think about things that were beyond what the patient came to talk about, this may have not been picked up. This story has a happy ending –the young woman was negative for the BRCA mutation (phew!) and her husband tested negative for all 3 diseases.  But unfortunately it does not always end this well.

Emily’s story makes me want to remind you that genetic information can be difficult to sort through. That is why I am encouraging you to have a genetic counselor explain it all in English and make sure all the proper testing is ordered.  Thinking outside the lines comes with proper training and therefore, if you have any concerns about your genetic health, I strongly encourage you to seek professional help in this realm. You never know.

Educating Our Educators: Part 2

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Last week, Estie and I had the opportunity to head out to Stamford, Conn. and participate in the Jewish Learning Initiative on Campus (JLIC)’s annual conference. JLIC is a program run through the Orthodox Union that places Orthodox Rabbinic couples as Torah educators in Hillels on college campuses. The JLIC educators provide avenues for spiritual development and exploration for Jewish students from varied backgrounds as well as presenting a positive, sophisticated and welcoming face for Orthodox Judaism on campus.

Our goal in educating these educators was to spark their interest in issues related to genetics and Jewish law and encourage them to discuss these issues with their students. We were thankfully able to provide the JLIC educators with a list of Jewish sources discussing issues related to genetics such as pregnancy termination, invasive prenatal testing, preimplantation genetic diagnosis, confidentiality, and disclosure. These sources will undoubtedly come in handy for the JLIC educators and help them raise awareness and begin a dialogue with their students about these interesting and important issues.  While raising awareness about genetics issues on campus is one step, many of the educators expressed interest in hosting a genetic screening event on their campuses for their students.

The educators had lots of really good questions ranging from what to say to students who are very anxious about undergoing carrier screening to whether or not college students are even interesting in Ashkenazi Jewish carrier screening (but more on that later)! We’re looking forward to working with them!

Jewish Genetic Diseases are a COMMUNITY Problem

Of the 112 students that were screened on the Yeshiva University campus this past April, more than one third were found to be carriers of at least one Jewish genetic disease.  This demonstrates that being a carrier is not a stigma, it’s a community problem!  Fortunately, carrier screening via the PJGH is significantly more affordable than in the past, thanks to a new relationship with genetic testing company, Counsyl.  In addition, generous subsidies from Mr. Michael Stoler and the Foundation for Medical Evaluation and Early Detection makes pre-conception carrier screening even more affordable.

Our carrier screenings – coordinated through the Montefiore Medical Center/Einstein office of Dr. Susan Klugman, PJGH Director of Clinical Services and Community Outreach, include genetic counseling sessions.  Click here for more information on how to get screened via the PJGH.  Also check out a recent opinion piece from one of our genetic counselors, Estie Rose, about the importance of carrier screening.

Educating Our Educators: Part 1

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by Chani Wiesman, MS, CGC

A few weeks ago I joined a group of women gathered together in the study hall at Ma’ayanot Yeshiva High School for Girls in Teaneck, New Jersey to help them learn about prenatal and preconception genetic carrier screening as well as hereditary cancers and their impact on the Ashkenazi Jewish community.

These women are preparing to become Yoatzot Halacha, literally, Advisors on Jewish Law. Yoatzot Halacha are women certified by a panel of Orthodox rabbis to be a resource for women with questions regarding Taharat HaMishpachah (an area of Jewish Law that relates to marriage, sexuality and women’s health). This role was devised to assist women who are more comfortable discussing very personal issues with another woman. As part of their training, they devote two years (over 1000 hours) to intensive study with rabbinic authorities in these laws.

They receive training from experts in modern medicine and psychology, including gynecology, infertility, women’s health, family dynamics and sexuality. I spent a total of 2-½ hours with these future leaders in the Jewish community, discussing the importance of preconception carrier screening as well as awareness about the high risk for inherited cancers, specifically breast and ovarian cancer, and the availability of genetic testing, as well as screening and management recommendations for high-risk women. Yoatzot Halacha are in a unique position in the community, as they often meet with women before they get married, and have a continued relationship with women throughout their reproductive lives, making education about reproductive and cancer genetics vital.

The Yoatzot Halacha-in training had many thought provoking questions ranging from the efficacy of self-breast exams, to insurance coverage for preconception genetic carrier screening, to issues of disclosure of genetic test results to family members. They were actively thinking about the practical applications of genetics to their role in the community and how they will be able to broach these issues with the women they advise.

All in all, a wonderful experience! I look forward to working with these women more in the future.

Genetic Screening Just Got a Whole Lot More Affordable

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by Chani Wiesman, MS, CGC

When I was a graduate student on the road to becoming a genetic counselor, I was shocked the first time I found out how much a genetic test could cost. Upwards of $2,000??? Surely this had to be a joke! As I found out, and as my patients have found out over the years, genetic testing is unfortunately quite expensive. Depending on the test, depending on the lab, genetic testing even nowadays could cost in the thousands. Until a few weeks ago, the cost of Ashkenazi Jewish carrier screening could be as much as $4,000 – $6,000. I’ve even had a patient call me saying that the lab she reached out to quoted her a price of $9,000!

From what I have seen, the cost of genetic testing has been the biggest obstacle for families and couples looking to undergo genetic testing. I’ve seen families decide not to do medically important genetic tests because they would not be able to afford the cost of testing. Insurance companies sometimes do cover the full cost of these tests, however some insurance companies only cover a percentage of the testing, leaving the patient responsible to pay for the remainder of the bill. If an insurance policy covers, for example, 80% of the cost of testing, although that is a large chunk of it, 20% of let’s say $6,000 is still a significant amount of money, and may end up making testing cost-prohibitive for a patient.

In the past, the Program for Jewish Genetic Health has used philanthropic funding to enable us to offer prenatal or preconception Ashkenazi Jewish genetic screening to individuals whose insurance wouldn’t cover it or who would be unable to afford the testing. Recently we started working with a lab which has enabled us to make this testing available to many more individuals, and to get more bang for our philanthropic buck, so to speak. Patients with insurance can be tested through this lab and regardless of what the insurance company pays, the patient will receive no more than a $99 bill. Philanthropic funds are used to cover 2 additional tests which are not offered by this lab, to ensure that our patients are screened for the most extensive panel of Ashkenazi Jewish genetic diseases out there. For patients who have no insurance, we ask them to contribute $180 to the cost of their testing, while our philanthropic funding covers the rest.

We’re very excited about this new change in how we order our testing, and the feedback from our patients has been positive too! We wholeheartedly echo the sighs of relief we hear on the phone from patients when they realize that there are options out there to get reliable and affordable genetic carrier screening.

To make an appointment with us for Ashkenazi Jewish carrier screening, visit the “Genetic Testing” portion of our website.

Welcome to The Gene Scene

Welcome to The Gene Scene!

How is the field of genetics going to change the world of medicine?  What kinds of situations do genetic counselors face on a daily basis?  What kinds of ethical concerns should be taken into consideration before we all go down the “slippery slope” of genetic engineering?  What do the Rabbis say is allowable under Jewish law?

These questions are just examples of what The Gene Scene will cover.

Our genetic counselors and program directors – many of whom have clinical and academic appointments at Montefiore Medical Center, the University Hospital for Einstein, and Jacobi Medical Center – will share stories, patient scenarios and perspectives from the field of genetics.  We’ll share interesting questions that have been posed by patients and Rabbis.  We also will take stories about genetics that are in the news and provide fresh commentary on what they mean to the common person.

We hope you enjoy The Gene Scene.  Thanks for visiting!

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