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.
Why does my child need to see a geneticist or genetic counselor? What happens once we get there?
There are many reasons why someone might end up in a pediatric genetics office. Your child may have been born with a heart problem, cleft lip, or unusual facial features. Maybe your child has speech delay, motor delays, or autism. You might even be there because your pediatrician thinks your child is consistently underweight or a bit too tall for his age. Truth be told, you’re at the pediatric genetics’ office to answer the question; Why? To be more specific, in the genetics’ office we’re trying to answer the question, “Was this caused by something genetic?”.
At the pediatric genetics office, you typically will meet with a genetic counselor who will review with you your pregnancy history, your child’s medical and developmental history, and your family medical history. The genetic counselor will ask you some pretty detailed questions about things you used to know, but that this point, you may hardly remember. Be prepared to answer questions such as: How old was he when he said his first word? When did he start to crawl; to walk? How old was your grandmother when she passed away? What was the cause of her death? How many brothers and sisters did your father have? (As I often say to my patients, we ask very difficult questions in Genetics!) Sometimes the genetics office will send you a questionnaire with these questions for you to fill out at home, before your appointment. Consult with your spouse, parents, siblings, and try to fill in as many details as possible.
If your child has already been evaluated by various specialists, it is crucial for you to bring as many records as possible along to the genetics office. It is important for the genetics team be able to review these evaluations.
Together with a detailed physical exam performed by the geneticist, these histories form a story which the geneticist and genetic counselor use to try and determine if there is an underlying genetic cause for the issues that your child is experiencing. Each piece of the story is another clue which helps the genetics team figure out if they suspect that your child’s issue is genetic, and if any genetic testing would be warranted. Interestingly enough, a big part of your genetics evaluation has NOTHING to do with genetic testing. This shouldn’t be so surprising, as genetics as a field has existed for many years, even before we had that ability to perform any genetic tests.
Most genetic testing in the pediatric realm is done on a blood sample or a urine sample and in rare situations, skin or muscle biopsies may be necessary. The geneticist may recommend that your child undergo other evaluations, such as imaging studies, or that your child be seen by other medical specialists who may have a better grasp on the specific symptoms your child is experiencing.
The end goal of a pediatric genetics visit is to help care for your child in a better way. If your child’s unusual birth marks are isolated, then we may very well just send you home with the recommendation to follow up with a dermatologist every few years. However, if through this evaluation we determine that your child’s usual birth marks are actually part of a genetic syndrome, we might recommend that he see a number of other medical specialists who can monitor him efficiently.
The other benefit of determining if your child’s issues are genetic in nature or not is that it enables the genetics team to provide you with an accurate recurrence risk; meaning, we’ll be able to tell you what the chance is for you to have another child with the same or similar issues.
See? That wasn’t so bad. Maybe you’ll even get stickers at the end, too.
“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.
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!
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.