Getting Screened: The Most Important Blog Post I’ve Ever Written
Last week, my husband and I boarded a train from New York to Philadelphia. Our destination was The Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center. Getting screened for Jewish genetic diseases is a topic much like pre-nups or gets — it’s something that you really don’t want to talk or think about before your wedding, but in this case it’s necessary.
Getting screened for Jewish genetic diseases was not even something I had considered, or even really knew much about, until a friend mentioned it to me recently. Once I broached the topic with other friends of mine, I realized that they too knew little about it. I am assuming that many readers out there are in the same boat, so let me tell you more:
About Jewish Genetic Diseases
There are a number of genetic disorders that occur more frequently in certain ethnic populations. In the Ashkenazi Jewish population (those of Eastern European descent), it has been estimated that one in every five individuals is a carrier of at least one of several severe genetic conditions that can result in the early death of a child if both parents are carriers; Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia, Gaucher Disease, Glycogen Storage Disease-Type 1a, Maple Syrup Urine Disease, Mucolipidosis IV, Niemann-Pick, and Tay-Sachs Disease. Doesn’t sound pretty, does it?
To Test or Not to Test
Once I heard this, it honestly didn’t compel me to get tested. It actually freaked me out. Who wants to think about the possibility of their child developing a horrible disease? And since my husband and I are already married, I thought to myself “What if we are tested and find that we are both carriers of a disease? What then? Is it going to ruin our relationship?”
After learning more, I realized that no matter where you are in your relationship (or even if you are single) it is important to be screened. Even if your significant other is not Ashkenazi, or even Jewish, it’s important to get tested because other ethnicity’s can be carriers too. All it involves is a simple blood test, and the results come back within a few weeks. It is not necessary for both members of a couple to be screened at the same time like my husband and I were; if one person gets tested and is found to not to be a carrier, then there is little risk of your child developing any of the diseases. If the individual who was tested is found to be a carrier, then their significant other should then be tested too. Getting screened allows you to either put your mind at ease, or to make informed decisions should you both be carriers. FYI- if you both test positive as carriers for the same disease, it does not necessarily mean that you can’t have healthy kids together. There are many reproductive options that can be discussed with a genetic counselor.
If both parents are carriers of a Jewish genetic disease,
there is a 1 in 4 chance with each pregnancy of having a child who is affected.
Where To Get Screened, and What to Ask Your Insurance Company
Most medical labs test for Jewish genetic diseases, and most insurance companies either cover the full cost or part of the cost of testing. It is best to check with your individual insurance company before going for testing. Tell them that you are calling for “pre-approval of Preconception Ashkenazi Jewish Genetic Screening.” Mention the panel of 11 tests above, and if they ask you for CPT Codes, provide the following:
CPT codes: 83891, 83892, 83893, 83894, 83896, 83898, 83900, 83901, 83909, 83912, 83914, 83080
ICD-9 codes used are V26.31 (genetic counseling for females), V26.34 (genetic counseling for males), V77.6 (carrier screening for cystic fibrosis), V77.7 (carrier screening for metabolic diseases), and V82.71 (genetic diseases carrier status)
The Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center happens to also offer free or reduced cost Jewish genetic screening for college students, engaged couples, and newlyweds in their first year of marriage. More than just a lab, The Victor Center provides you with a genetic counselor who takes your family history, and explains the diseases and testing in greater detail. In addition to Philadelphia, The Victor Center has outposts in Boston and Miami, and also arranges events at colleges and other locations around the country where you can get screened if you do not live in those particular cities.
For more information on getting screened for Jewish genetic diseases, visit VictorCenters.org
I am sure you’ll be glad you did it, just as I was.
Image credits:
Dancing DNA – Adrienne Cohen
Inheritance chart – The Victor Center
6 comments
My Jewish genetic disease is a sephardic one. Silly nomadic inbreeding Jews! Sephardim (or part-Sephardim) may want to be tested for metachomatic leukosystrophy. Symptoms can present in many ways, including temporal lobe epilepsy, clubbed foot, various neurological disorders (from ADHD to worse types), breast cancer, trouble conceiving children, addictive disorders, digestive issues, etc.
Sephardic Jews are at risk for different diseases than are the Ashkenazi, and the specific diseases depend on the country of origin. For more info, go to http://www.victorcenters.org/sephardi-info.cfm
This is very informative. We got tested and I did not have this info so now I am waiting to hear from my insurance company if they will pay for the tests.
Hello everyone. I came across this blog post listed on Facebook and it is very informative, especially the insurance information. I wanted to pass on some info I have created about genetic testing for the Ashkenazi Jewish Panel: http://www.AccessDNA.com/condition/Ashkenazi_Jewish_Diseases/45
Hope you find it helpful!
It’s important to be cautious when using direct-to-consumer genetic testing centers that offer at-home genetic testing like the one referenced in the above comment. Please read the article by the Federal Trade Commision, A Healthy Dose of Skepticism May Be the Best Prescription, before using any of these services for serious medical evaluation http://www.ftc.gov/bcp/edu/pubs/consumer/health/hea02.pdf
whoops. typo. metachromatic leukoDystrophy (MLD). I have not been tested, personally. my maternal grandfather (z”l) was confirmed. my mom and I both have TLE. Other symptoms run in 3 generations of my family and have been confirmed via extensive family and medical research. (there go my shidduch chances. lol. is anyone free of the chance of disease? no.)
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