When 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!