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When Bio Isn’t So Boring

My personal and professional worlds recently collided when I sat with my 9th grade son, Brian, to review for his upcoming Biology exam. The subject was the reproductive system, the stages of pregnancy, and fertility. The chapter ended with infertility issues and in-vitro fertilization (IVF), which allowed me to take his Biology unit one step further and explain to him the amazing technology known as “pre-implantation genetic diagnosis (PGD),” a topic on which my Program for Jewish Genetic Health colleagues frequently educate the Jewish community. At first, probably like most teenagers, he didn’t want to learn any more than what he HAD to know for his exam. But I was able to pique his interest by giving him a real life example of the miracle of PGD.

When Brian was 12 years old, one of his Little League teammates, Cody, had a younger brother named Jack who had Familial Dysautonomia (FD), one of the Jewish genetic diseases. Jack was like the team mascot, always there to cheer on Cody and run around the bases after many games. Cody also had two, twin toddler siblings often running around on the sidelines. While Brian knew that something wasn’t quite right with Jack, he was unaware that a modern day technology – PGD – enabled Cody’s mom to subsequently give birth to healthy twins.

So while reviewing infertility and IVF – and harking back to his previous Genetics unit – I was able to bring his Biology unit to life. I first showed him my MyJewishGeneticHealth.com “work” video of Cody’s mom, talking about how the miracle of PGD enabled her to give birth to two healthy twins and know they would not be born with FD. I then signed in to our full MyJewishGeneticHealth.com lesson to show him real video of how PGD is performed…plucking cells from 3-day old harvested embryos and testing them for disease, before implanting the healthy embryos into the womb. It was a real “Whoa, that’s cool!” moment for him, to see video of this technology at work, and to understand the peace of mind it gave to Cody’s mom and dad when they gave birth to their twins.

It’s often a challenge to make your child understand why the material they are studying in class is worthwhile. By showing Brian how modern day science can truly make an impact and prevent heartache in people’s lives, I was able to interest him in learning more than he needed to know for his exam.

Updating Your Carrier Screening

update carrier screening croppedWhen I was at a recent sisterhood event at my synagogue, a friend of mine approached me to ask if she should “do her genetic testing again” since she and her husband were first tested in 2007 and have not been tested since. I answered with an emphatic “YES!” I appreciated that she knew to even ask this question, but our conversation got me thinking. Do other people know that new diseases are regularly being added to the Ashkenazi  Jewish panel?

The best time to get screened is well before a pregnancy. Since the 1980s when Tay-Sachs testing was introduced to the Ashkenazi Jewish world, there has been much progress in the realm of genetic testing. Currently, we screen for about 18 diseases that are common in this population. And testing for Sephardi and Mizrahi Jews as well as Jews of mixed ancestry has become more commonplace. But someone who was tested in 2001, for example, and was negative, is not “in the clear” since many more diseases have been added to the panel since then.

Many people ask me, “If I am already married, why should I bother updating my testing? It will only make me more anxious as I continue having children.” My response is that I’d rather find out that you are both carriers of the same genetic disorder by doing a blood test, rather than finding out after you have an affected child. There are other options besides for stopping childbearing, rolling the dice with each pregnancy, and breaking up! Other family planning options include testing the fetus early in the pregnancy, using an egg or sperm donor, and adoption. In-vitro fertilization with pre-implantation genetic diagnosis (PGD) is another great alternative for couples who want to know their child’s genetic status before it is even in-utero. By doing genetic testing this early on, a couple will avoid getting pregnant with an affected embryo and will circumvent any ethical or issues related to Jewish law that may arise.  Robin’s Story, a short public service announcement on MyJewishGeneticHealth.com, will open your eyes as to the importance of updating your screening and learning your options. And be sure to register to watch Dr. Lieman’s longer webinar about PGD and Chani’s lesson about preconception carrier screening!

Finally, while testing for diseases that are common in specific populations is currently recommended by professional genetics groups, there are labs who are now offering screening for many more diseases. These expanded carrier screening panels claim to be “one size fits all” and are marketed to all ethnicities, but a negative result on a broader screening does not fully eliminate the risk of having a child affected with one of the tested disorders, it only reduces the risk. Furthermore, expanded carrier screening does not cover all diseases that could affect offspring.

I wish I could go into every synagogue, preschool, sisterhood, and other places where women in their childbearing years hang out to remind them to update their carrier screening! But since that is impossible, please take the time to mention it to your family and friends and help me spread the message. Let’s avoid heartache together!

New Lesson! New Name!

MJGH logoIf you haven’t yet heard, last week we launched our new GeneSights lesson about Preimplantation Genetic Diagnosis (PGD). Well, I should say, it’s not a GeneSights lesson anymore. After listening to the feedback we’ve been getting, we decided to change the name of our online education series to one that can be more easily recognized and understood. Welcome to MyJewishGeneticHealth.com!

Our new lesson on PGD is a very exciting one, and one which we hope will be a valuable resource to the community. Our speaker, Dr. Harry Lieman, is the Director of the Division of Reproductive Endocrinology and Infertility at the Albert Einstein College of Medicine, as well as the Director of Montefiore’s Institute for Reproductive Medicine and Health, and the Liaison for Fertility and Reproductive Technologies at the PJGH.

Our PSA, Robin’s story, can be seen here. Speaking with Robin and understanding her story was pivotal in understanding why we needed to develop a lesson about PGD.

As was true for GeneSights, signing up for MyJewishGeneticHealth.com is free, and obviously does not replace regular medical care or visits with your doctor. We hope this lesson will help inform you and your loved ones about the process and utility of PGD!

Come learn with us!

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