There are subjects that are too uncomfortable to talk about or even consider. One of them must surely be whether any of us carry genetic diseases that may be transmitted to our offspring. Who wants to know such things? And what can we do about it even if we knew?
That also was my take when I encountered this subject over a decade ago. Because one of our advertisers is an awareness and educational nonprofit called GeneTestNow, which we helped launch and market, I had to do a deep dive on the field itself.
What first caught my attention is that this was unlike any cause I had encountered in the Jewish world. Fight antisemitism? Sure. Genetic screening? This was something else entirely.
It’s one thing to ask people to donate to a Jewish institution or get involved as a volunteer. But to ask people to get screened for genetic diseases is a whole other type of ask. No one likes to be told what to do, especially when bad news might be part of the outcome.
But it was precisely this unique challenge that drew me to the cause. More importantly, it was also the realization that people have little to lose and much to gain by getting screened.
What is there to gain? Above all, valuable information. Especially if you’re planning on having children, getting screened allows you to assess the risks of having a child with a genetic disorder.
A brief primer: Most carrier screening is for recessive conditions. It takes two gene mutations — one inherited from the mother and one inherited from the father — for a person to inherit a recessive condition. If a person carries only one genetic mutation for a condition, he or she is known as a carrier. Carriers often do not know that they carry a mutation because it does not impact their health.
Today, thanks to the advances of science, you now can be tested for more than 200 diseases, both those common in those with Jewish ancestry and among the general population.
If both parents are carriers of a recessive condition, there is a 25% (1-in-4) chance that their child will be born with the condition. Thanks to the advances of science, you now can be tested for more than 200 diseases, both those common in those with Jewish ancestry (Ashkenazi, Sephardic, Mizrahi, etc) and among the general population.
Is this information worth getting? Here’s how a consultant with GeneTestNow, Daniella Kamara, LCGC, MS (Licensed certified genetic counselor, UCLA David Geffen School of Medicine), explains the value of carrier screening:
“Even though the information can be difficult to hear, it gives you that power to make decisions the way you want to make them. It gives you more control than just shooting into the dark.”
– Daniella Kamara, Licensed Certified Genetic Counselor
“Even though the information can be difficult to hear, it gives you that power to make decisions the way you want to make them. It gives you more control than just shooting into the dark. The idea is that you won’t be thrown a curve ball and thrown into this crisis that can be very emotionally taxing. The flip side is that you can have this testing and find out you and your partner are not carriers for the same condition and you can have peace of mind. It solves the mystery and you can have a stress-free family planning process.”
The big question, of course, is: What happens if both parties test positive?
“If both partners are positive for the same disease,” Kamara adds, “there’s usually a 25% chance that the child of the pregnancy will be affected by the disease, and a 75% chance that the child of the pregnancy is healthy. So some couples are very comfortable with those odds and they choose to proceed to conceive naturally without intervention.
“But the idea is that they’re informed and they’re making that conscious decision. Other couples are not as comfortable with those odds and they choose to use some form of assisted reproductive technology, something like using In Vitro Fertilization (IVF) and Preimplantation Genetic Testing-Monogenic (PGT-M) to actually screening embryos and selecting those embryos that do not have the condition to be implanted in the woman.
“The bottom line is having that information allows both to make an informed decision, so regardless of which path they decide to take, they thought about it, they know what they’re getting themselves into, and they make that choice. It allows for these couples to control for these curveballs that can be very emotionally tolling on a couple and on a family when it comes to genetic conditions and unexpected issues in pregnancy.”
In other words, like a lot of things in life, it’s better to know than not know.
Over the years, the Ashkenazi community became the poster child for genetic screening because much of the screening started with Tay-Sachs.
Over the years, the Ashkenazi community became the poster child for genetic screening because much of the screening started with Tay-Sachs. It was common to hear, “Oh yes, before I got married they took my blood and tested me and my partner for Tay-Sachs.”
There are certain genetic conditions that are more common in Persian, Mizrahi and Sephardic Jewish communities.
The frequency and tragedy of Tay-Sachs was really brought down with carrier screening, so it was quite an accomplishment in the Jewish community. But as Kamara says, “on the flip side, it’s also given people of other ancestries a bit of ‘Oh I don’t need to do that because I’m not Ashkenazi,’ which is not true. There are certain genetic conditions that are more common in Persian, Mizrahi and Sephardic Jewish communities. They’re different conditions than the ones we see in the Ashkenazi community but they absolutely occur in a higher frequency in those communities than in others.
These days, we see a lot more mixed individuals — half Mizrahi, half Sephardic, Sephardic individuals marrying Ashkenazi individuals. Just because you’re not Ashkenazi doesn’t mean you can’t be a carrier for Tay-Sachs. There’s always that chance, and even in French Canadians there’s a very high carrier frequency for Tay-Sachs. As Kamara warns, “Because of the genetic diversity that we have today and the mixes that we’re seeing, screening is really important for anybody that’s planning on having children, regardless of background.”
In recent years, three developments have accelerated the movement to get screened. First, the Jewish nonprofit initiative JScreen has made it affordable and convenient. Instead of the hassles of doing a blood test, JScreen mails you a kit to get a saliva sample, after which a certified genetic counselor provides you results with a telehealth appointment.
The second development is the rise in direct-to-consumer tests like 23 and Me, which used discovery of one’s ancestry to demystify the whole field of gene screening. People got into the habit of getting screened via home kits. However, as Kamara points out, people need to understand the limitations of these direct-to-consumer ancestry tests, as people should not make medical decisions based on them. “A lot of people will say, ‘I already did 23 and Me, I don’t need any more testing,’ but the fact is they’re not comparable in that way at all.”
Third, hundreds of rabbis and spiritual leaders have gotten behind the idea. Many rabbis now include genetic screening on their “check list” when assisting couples preparing their weddings. Indeed, we timed this article to coincide with the start of the wedding season.
One rabbi who has been highly supportive is Rabbi Dr. Elliot Dorff, who is an author, professor of law and theology and a renowned bio-ethicist. At a panel on the subject, he explained the value of screening:
“The ultimate ethic is that we have a duty to preserve our health. That goes back to something very fundamental in the Jewish tradition, mainly that my body belongs to God. And I have fair use of it during my life. It’s as if you were renting an apartment. You have fair use of that apartment but you may not destroy it, you may not harm it. As a matter of fact, you have to take reasonable care of it.
“We have a fiduciary duty to God to take care of our bodies, and that means preventive care as well as curative care.” – Rabbi Dr. Elliot Dorff
“And in the same sort of way, the way that the Jewish tradition understands us is that we have a fiduciary duty to God to take care of our bodies, and that means preventive care as well as curative care. And in the case of genetic testing, this is one way to try to make sure that the children that we have are healthy and are not burdened with a genetic disease.”
The rabbi added:
“You should also not be worried about being tested for fear that you are going to somehow be looked at as damaged goods in terms of things like marriage. Most of us are carriers of something. But even if you are a carrier of one of the more prominent diseases, that does not at all mean that you cannot have children that are perfectly healthy … and therefore you really have a duty to the future generation to do what you can to prevent illness, and genetic testing is a critical way of doing that.”
Perhaps the most sensitive area is when we talk about “healthy babies.” All babies are created in the image of God, healthy or not. All babies are equally loved, healthy or not. That’s not the point. The real issue is: What can future parents do to minimize the risk that their children will have a life-altering disease? Screening helps to put the odds on your side.
Given the sensitivities, how do you talk to your family about genetic conditions?
“It can be a very difficult thing to discuss with family members,” Kamara says. “Oftentimes, if there is a history of specific diseases it can be a very sensitive topic for some people. I think the best way to start is to ask questions. Be interested in who came before you. Ask your grandparents, your parents, your aunts and uncles about the different relatives, and through that storytelling it’s easy to get into the conversation about people’s health, about the history of the family, what their lives were like.
“That sort of conversation in the form of a narrative can be a more helpful way to go about asking more difficult questions. Also, explaining to family members why it’s so important to have those conversations. So the idea that keeping the family history alive and keeping everybody well informed is very important for future generations.” The family tree worksheet attached to this article is a good starting point.
We often talk in the Jewish world about what we pass down from generation to generation. Today, valuable information about our genes, and the health benefits that can come from it, can now be added to the list.
We often talk in the Jewish world about what we pass down from generation to generation. Traditionally, we have focused on things like Jewish values, a strong Jewish identity, Jewish education, a connection to Israel, a mission to help repair the world, and so on.
Today, valuable information about our genes, and the health benefits that can come from it, can be added to the list.
To learn more about genetic carrier screening, please visit genetestnow.com