Are You A Carrier? JScreen Wants To Test For Genetic Diseases — Before Kids – PGD is our norm with Ukrainian Surrogacy

Are You A Carrier?

Article By Peter Haden

Spit in a tube. Drop it in the mail.

In a few weeks, a genetic counselor calls you up with your results.

JScreen is a non-profit public health initiative dedicated to preventing Jewish genetic diseases. It is based at Emory University in Atlanta. For $149, the test will tell you if you are a carrier for more than 200 genetic diseases.

JScreen Director of National Outreach Hillary Kener sat down with WLRN's Peter Haden to discuss the program’s mission: screening all people before they have kids.

WLRN: So the program isn't just for Jews?

HILLARY KENER:  We're called JScreen because many of the diseases that we test for are ultimately more common in people with Jewish ancestry. But we screen for a vast number of diseases. At this point, it's over 200 — and that includes diseases common in both the Jewish community as well as the general population.

Whether you're an interfaith couple, whether you're Jewish-Jewish, even same-sex couples need to be screened if you're using a sperm or an egg donor. You want to make sure that you're not a carrier of the same thing as that donor.

We do a lot on college campuses. Many people say, “Why are you on college campuses if those students aren’t ready to begin families?” But the important part of Jscreen is getting people prior to conception.

Because the next time that you're going to be offered screening, in most cases, is when you or your partner is already pregnant and you're sitting in your OB-GYN’s office.

I'm tested through JScreen. My results come back and it says I'm a carrier for a genetic disease. What are my options at that point?

If you are screened and are a carrier for something, it's not a big deal. You just want to make sure that your future partner is also screened. Because what we're trying to alert people to are carrier couples of the same disease. So, for example, if someone is a carrier for Tay-Sachs disease and another person — their partner — is a carrier for cystic fibrosis, then you're not going to pass either of those on. It takes two to tango, since they’re recessive diseases. So let's say you come back as a carrier a couple. It's a 25 percent chance with each pregnancy. So each pregnancy is at an independent 25 percent risk. You have a 50 percent chance that your child is a carrier just like you — so, they're healthy. And then you have a 25 percent chance that your child is not a carrier nor affected. But many of these are very devastating diseases. So taking that risk is not something many couples choose to do.

Many couples choose something called IVF — in vitro fertilization. But it's coupled with PGD, which stands for pre-implantation genetic diagnosis. And this is just fertilizing the husband's sperm and the wife’s egg outside the body in petri dishes and then being able to test those. And they only implant the healthy embryos through IVF. And it's just free of that disease. Other people chose to use a sperm or an egg donor from a non-carrier. Other couples choose to conceive naturally, and they can test the embryo in utero to see if it's affected. And then other couples choose again to conceive naturally, but just to prepare for early treatments.

Everyone is at risk for being a carrier of a genetic disease. Risk assessment for all populations:  Cystic Fibrosis — 1 in 30;  Spinal Muscular Atrophy — 1 in 55;  Gaucher disease — 1 in 78;  Tay-Sachs disease — 1 in 171;  Usher syndrome Type 1 — 1 in 194  (Source:  JScreen.org)

Why not “I-Screen” for Italians or “AA-Screen” for African-Americans? There are other groups that really could use a targeted genetic testing service. Why J-screen?

Much of our funding comes from the Jewish community. So our marketing is targeted towards people of Jewish descent. But we're working with all sorts of groups — anyone prior to pregnancy. If you are newly engaged or you're newly married, we want this to be something that's just a mantra, right? Like, everyone shops for a wedding gown and they’re in the midst of all this wedding planning and every detail. Well, this should be something on your wedding checklist.

How does genetic testing jibe with Jewish law, Jewish theology?
It's actually a great thing in Jewish law because we're trying to save a life. So even the most Orthodox rabbis will advocate for the importance of screening. Some of them really advocate for it before a couple even meets. And I think it's rare to get everyone across the board — from Reform rabbis to the very Orthodox — to all be in agreement. Even IVF and PGD being an option to have a healthy baby is permissible within

Jewish law.

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