After last month’s blog post, hearing Julie’s touching story about the risk of not getting up-to-date genetic screening, I wanted to hear a little more from the medical side. What do we need to know about genetic testing? What are the misconceptions? Do I really have to get tested? What if I’m marrying someone non-Jewish?
Well, let’s back up for one second and refresh some common Jewish Genetic Disease Screening information:
The most commonly known genetic disease in the Ashkenazi Jewish community is Tay-Sachs Disease. I have always been under the impression that those of Sephardi and/or Mizrachi decent do not have to get screened, you can just marry a Sephardi and you’re off the hook! But it’s not so simple. According to Jewish Genetic Diseases.org there are still 16 possible diseases one could test for, depending on the person’s family history and country of origin. I got to speak with Dr. Adele Schneider, Director of Clinical Genetics and Medical Director of the Victor Center for Jewish Genetic Diseases at Einstein Medical Center in Philadelphia, and she says there are actually a now 38 genetic disorders with a high carrier rate in the Ashkenazi Jewish population for which testing is available. “Different labs have different panels of diseases for testing. That’s why it’s so important to be informed of the latest and best way to get screened.”
“Some people think, ‘why would I want to know bad news?’ It’s not bad news. Knowledge gives you power to make good decisions.” – Dr. Schneider
Dr. Schneider feels strongly that the best way is to see a genetic counselor to understand what you are being screened for and that being a carrier does not mean you have a disease. “In the past organizations like 23andMe were giving out kits without any counseling, but that’s not enough. And what if you do get a carrier result? People freak out if they do not understand that being a carrier does not affect your health.” But that doesn’t have to be the case she says, “A carrier is a perfectly healthy person whose only risk is to pass on the altered gene to their offspring. Knowing this before you are pregnant and having your partner tested. empowers you and gives you the most reproductive options. A genetic counselor can help explain to you what you need to know and not freak out.”
New genetic disorders are being discovered all the time, not only in the Jewish community.
She cautions this for the same reason Julie does. New genetic disorders are being discovered all the time, not only in the Jewish community. She explains that “even if you only have one parent who is one part non-Jewish, that is Jewish enough to get screened. If you have one grandparent who is Jewish, you should get tested.” Dr. Schneider suggests checking in with a genetic counselor every time you plan to get pregnant, even if you were screened before your other children were born, since the technology is constantly advancing.
There are now “pan ethnic” testing panels that are geared to the broader population but do include the Jewish genetic diseases, “depending on the situation we might suggest that panel,” for people of other ethnicities.
Now, I’m not telling you this to scare you, but rather to empower the Jewish community. That is the most important take away anyone can give you.
Some facts: Approximately 1 in every 2 individuals of Ashkenazi Jewish descent is a carrier of one of the disorders being screened for. The disorders are all serious conditions and the knowledge of carrier status is important medical information for the individual. If you are a carrier, one of your parents is a carrier and your siblings also could be carriers. If you and your partner are both carriers for the same genetic disease, there is a 1 in 4 chance with each pregnancy to have an affected child.
Organizations like Dor Yeshorim were established to specifically conduct anonymous testing in the Orthodox community, as to not create any stigma if one is a carrier. But Dr. Schneider warns, “the problem is that it is a one-time deal and the kids don’t know what they are screened for. So as panels change, these young adults are not screened for the new diseases available and may both be carriers for a disease that was not tested way back when first tested.” Even for people screened by Dor Yeshorim, we recommend talking to a genetic counselor each time they plan a pregnancy to see if changes have been made to the panel of Jewish genetic diseases.
Here is a breakdown of Dor Yeshorim:
- Dor Yeshorim is an international, confidential genetic screening program used mainly by the Orthodox Jewish community.
- Participants are given ID numbers but not their actual results.
- When partners are introduced or contemplating engagement, they both submit their numbers and birthdates to Dor Yeshorim. The two individuals’ test results are compared, and the match is considered to be “compatible” as long as both parties are not carriers of the same recessive trait.
- If the couple is not “compatible,” Dor Yeshorim provides genetic counseling over the phone and referrals for additional genetic counseling in the participants’ area as needed.
- The program costs approximately $200 and the results typically take 2-3 weeks.
Dr. Schneider passionately and softly explains, “Some people think, ‘why would I want to know bad news?’ It’s not bad news. Knowledge gives you power to make good decisions. My platform and legacy in this world I hope for, is to have everyone, of all ethnicities get tested for Tay-Sachs. It’s a preventable, terrible disease for a child and his family.” Tay-Sachs screening in the Jewish community began in the 1970s and it has really paid off. The number of babies born in the Jewish community with Tay-Sachs disease has dropped by 90% because of screening. This disease also occurs in the Cajun and French-Canadians at a higher rate. We also think it is higher in the Irish. The best test for Tay-Sachs disease is to measure the enzyme.
The number of babies born in the Jewish community with Tay-Sachs disease has dropped by 90% because of screening.
Now many labs do just a DNA test and look at a limited number of mutations or changes in the gene for Tay-Sachs. Most of the mutations they look at have a high incidence in the Jewish population and not the general population. One might think that DNA is better but Dr. Schneider explains, “the enzyme is essential to the testing to give you the best detection rates in all populations. Since French- Canadian, Cajun and Irish are also at risk, so the DNA test that focuses on Jewish mutations is inaccurate for most non-Jews because it’s geared towards the Jewish mutations.” She goes on, “the most accurate testing for Tay-Sachs for anyone is the enzyme and the DNA.”
“This is something good you can do for yourself, and the next generation.” – Dr. Schneider
Today, we have the incredible technology to test embryos conceived with IVF in the lab and to test them for the specific disorder we are trying to prevent by pre-implantation genetic testing, Only healthy embryos are implanted thus making sure no affected babies will be born to that couple. While some may find this slightly controversial Dr. Schneider assures that it is sanctioned by every rabbi she knows. “This is something good you can do for yourself, and the next generation.”
So put genetic testing, a simple but important thing to do, on your Wedding Check List.
You’ll both be grateful you did.
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