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Home > Everything You Need to Know about Jewish Genetic Carrier Screening {Facebook Recap with JScreen}

Everything You Need to Know about Jewish Genetic Carrier Screening {Facebook Recap with JScreen}

30/07/2020 by Karen Cinnamon

I’m so excited to share with you my latest Facebook Live with Hillary Kener Regelman, Director of National Outreach at JScreen, a US-based not-for-profit at-home education and carrier screening program for Jewish genetic diseases.Jewish genetic screening is SUCH an important topic for every couple thinking of having children, and I’m so glad Hillary was able to help demystify the process.

I admit it isn’t something I knew much about before speaking with Hillary, but after chatting with her I see both how essential testing is to every couple’s family planning process AND how easy and accessible JScreen has made it. They’re on a mission to put genetic screening on every prospective parent’s radar and to clear up the misconceptions so many of us have about the process – and after chatting with Hillary, I’m totally convinced that, as she says, genetic screening should be an essential item on every couple’s wedding checklist.  

What is genetic carrier screening?

Hillary started off by explaining exactly what genetic carrier screening is – and isn’t. It’s not a diagnostic test. Rather, JScreen’s testing lets people know if they are healthy carriers of genetic diseases who have mutations that they could pass on to their children.

Who should get screened?

While genetic screening is sometimes thought of as something relevant only to Ashkenazi Jews, the truth is that everyone planning on having children should get screened, regardless of background (and, as far as Jewish genetic diseases go, there are plenty that affect Sephardi and Mizrahi populations too).

JScreen offers a pan-ethnic panel, testing for all kinds of genetic diseases, not just those common among Jews – so it’s very much worth screening if one or both of you are not ethnically Jewish.

And even if your parents did testing, it’s still important to do it yourself before starting a family, since so many more diseases are testable today than even five years ago (which means that if you yourself were screened a number of years ago, it’s worth considering retesting with JScreen).

What is the ideal time to get tested?

According to Hillary, it’s any time before pregnancy – or even between pregnancies. While the Orthodox community tends to get screened before dating or before engagement, secular Jews are more likely to wait until after engagement or marriage. It’s important to note that if you haven’t already, it’s worth getting screened before a subsequent pregnancy even if you’ve already had a healthy baby.

Who does JScreen work with?

JScreen provides testing in the United States only. If you’re in the UK, Jnetics is a great option for screening. For the rest of the world, check out findageneticcounselor.com.

How does JScreen’s testing process work?

JScreen’s goal is making screening as easy as possible. And the process really is pretty effortless: all you need to do is go to jscreen.org, register, and request a saliva testing kit, which will be mailed to your home. Then, once it arrives, you spit into a tube, mail it back (with prepaid postage), and wait a few weeks to receive your results – which will be delivered by phone from a genetic counselor, who will make sure you understand the results, what they mean, and, if you’re a carrier for something, what your options for next steps might be.

How much does it cost to get tested with JScreen?

Genetic screening can be expensive, but part of JScreen’s mission is to make sure that cost doesn’t have to be a barrier for any couple. Thanks to donors and philanthropists, JScreen is able to offer testing for an out-of-pocket cost of $149 (with financial aid options available), regardless of insurance coverage. This is really a fantastic price, given that testing through other channels can easily cost upward of $1000. Plus, as a Smashing The Glass reader you can use the code “Smashing22” to receive a $50 discount.

What if I find out I am a carrier for one or more diseases?

First of all, while chances are high that you’ll be a carrier for something, you don’t need to worry unless you and your partner are both carriers for a common disease – which is much less likely. But if that turns out to be the case, your genetic counselor will talk you through everything.

Depending on the severity of the disease in question, carrier couples make all kinds of different choices when it comes to family planning. Some will opt to conceive naturally, and will use the knowledge they’ve gained to make sure they get the appropriate tests during pregnancy to monitor the status of the fetus. Others will opt for IVF with PGT (pre-implantation genetic testing) to ensure that the embryos selected for implantation are free of disease. And yet others might choose egg or sperm donation, or adoption. There are lots of options – as Hillary says, it’s really all about taking ownership of your health and family planning.

Does JScreen provide testing for BRCA?

BRCA is a genetic mutation common in Ashkenazi Jews that increases the likelihood of developing breast, ovarian, prostate, and pancreatic cancers. This is a different kind of testing from JScreen’s genetic carrier screening panel, because with BRCA the carrier of the gene herself is at higher risk of developing these cancers.

Following a successful pilot study, as of fall 2020, JScreen will be unrolling a genetic cancer testing program screening for BRCA plus 60 other mutations. The process will be similar to the carrier screening panel – you’ll receive a test kit at home, provide your saliva sample, and receive results from a genetic counselor.


We are so grateful to Hillary for sharing all of this knowledge with us – as she said, we want to do everything we can to make sure every couple has not only a fairy tale wedding, but a fairy tale life as well – and while there’s no foolproof way to do that, working toward every couple being screened for genetic diseases is one big step closer!

If you missed the live show, you can watch the replay below. Make sure you like the Smashing The Glass Facebook page to be notified of all future shows!And if you have any personal or confidential questions, please feel free to reach out to info@jscreen.org– they’re here to help!

Get in Touch with JScreen

info@jscreen.org

https://jscreen.org/

Instagram | Facebook| Youtube

Use the code “JScreenAtHome” to save $18 on genetic testing with JScreen

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Filed Under: Advice + Planning, Wedding Planning Tagged With: Facebook Live, JScreen, genetic screening

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