I’m delighted to share with you my latest Facebook Live, all about the most important wedding planning task that might not have made it onto your checklist: Jewish genetic carrier screening. While genetic screening certainly isn’t as much fun as, say, cake tasting, if you’re planning on having children it’s one of the most important steps you can take in securing your family’s future.
On this Live, I spoke 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. Hillary spoke with us for the first time this past July, and we had such an informative, empowering conversation about what JScreen does, how genetic carrier screening works, and what it all means for Jewish and Jew-ish couples.
We wanted to make sure all the newly engaged couples are able to benefit from her knowledge, so we brought her back for another session – where she went through the basics, answered questions from the audience, and filled us in on some recent updates at JScreen, like their new cancer susceptibility panel.
Hillary strongly believes that genetic screening should be an essential item on every couple’s wedding to-do list, and now that I’ve gotten to know her and JScreen, so do I!
What is genetic carrier screening?
Hillary began by explaining what exactly genetic carrier screening is – and what it’s not. First, it’s not a diagnostic test. JScreen’s reproductive panel won’t tell you if you yourself are at high risk of developing various diseases. Rather, JScreen’s testing lets people know if they are healthy carriers of genetic diseases who have mutations that they could potentially pass on to their future children.
Who should get screened?
The short answer: everyone planning on having children! While genetic screening is sometimes thought of as being relevant only to Ashkenazi Jews, the truth is that anyone, regardless of background, can be a carrier of one or more genetic diseases (and even as far as Jewish genetic diseases go, plenty affect Sephardi and Mizrahi populations). JScreen‘s pan-ethnic panel tests for all kinds of genetic diseases, not just those common among Jews – so it’s absolutely smart to get screened even if one or both of you are not ethnically Jewish.
Your parents may have done testing themselves, but even if that’s the case it’s still important to do it yourself before starting a family. So many more diseases are testable today than even five years ago – even if you yourself were screened a number of years ago, it’s worth considering retesting with JScreen. You can always look at the list of all the diseases they currently screen for and compare it to what you’ve already been screened for.
What is the ideal time to get tested?
Any time before pregnancy is a great time to test – whether it’s as a single person, while dating, during your engagement, or after the wedding. 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 – whatever works for you! Hillary noted 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. 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 strives to make screening as easy as possible. And they’ve done a great job making the process painless: you just need to go to jscreen.org, register (it only takes a few minutes), 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. Results are delivered by phone or video chat from a genetic counselor, who will make sure you understand 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, JScreen is committed to ensuring 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 a truly incredible price, given that testing through other channels can cost upward of $1000. Plus, as a Smashing The Glass reader you can use the code “JScreenAtHome” to receive an $18 discount.
What if I find out I am a carrier for one or more diseases?
While chances are you’ll be a carrier for something, you don’t need to worry unless you and your partner are both carriers for the same disease – which is less likely. But if that does turn out to be the case, your genetic counselor will talk you through everything and make sure you’re armed with the knowledge you need to move forward confidently.
Depending on the severity of the disease in question, carrier couples can make various choices when it comes. Some will opt to conceive naturally, making sure to get 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 embryos selected for implantation are healthy. And others might choose egg or sperm donation, or adoption. There are lots of options – it’s all about taking ownership of your health and family planning, and giving yourself the chance to make informed choices.
Does JScreen provide testing for BRCA?
Yes! As of very recently, JScreen offers a brand-new CancerGEN panel testing for genetic changes that increase risk for many types of cancer. This panel tests for BRCA (a genetic mutation common in Ashkenazi Jews that increases the likelihood of developing breast, ovarian, prostate, and pancreatic cancers) and over 60 other cancer susceptibility genes.
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. While the information you’ll gain from CancerGen is certainly valuable to have, JScreen understands that just because you’re ready for genetic carrier screening doesn’t mean you’re necessarily at a place in your life where you’re looking to learn this information. And you can absolutely do carrier screening as a standalone, without CancerGEN (or vice versa) – the choice is totally yours.
CancerGEN is also available as a standalone, so if at some point later on it’s something you’re interested in pursuing, it’ll be available any time.
The process for CancerGEN is similar to the process for genetic carrier screening – you’ll receive a test kit at home, provide your saliva sample, and receive results from a genetic counselor.
Thanks again to the wonderful Hillary for speaking with us about this important topic – 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 afterward. And while there’s no foolproof way to do that, working toward every couple being screened for genetic diseases is one big step closer – which is why I’m so happy we’re able to do our part to support JScreen’s essential mission.
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
Use the code “JScreenAtHome” to save $18 on genetic testing with JScreen
