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Genetic testing: A personal decision

right decisionAs a genetic counselor, I often get asked the dreaded question of “what would you do?” It might seem like there is one correct answer when it comes to the decision of whether or not to pursue genetic testing, but in reality, there is not. One’s decision about genetic testing (Should I pursue genetic testing at all? What type of genetic testing? How extensive should the genetic testing be? When should I pursue genetic testing?) is very dependent on one’s personal circumstances, past experiences, and attitudes.

For the past 5 years, I have consistently worked in a prenatal genetic counseling setting, among other specialty areas. Prenatal genetic counseling deals with genetic testing done during pregnancy for a variety of reasons. There are now many prenatal genetic tests which are out there and available to women during pregnancy. As a prenatal genetic counselor, I know the ins and outs of these tests like the back of my hand, have ordered and interpreted these tests for countless women and couples, and for some, I have advocated for the use of these tests, as they can often provide valuable and actionable information.

I am now almost 9 months pregnant, and even with all the knowledge I have about prenatal testing, genetic diseases, and various abnormalities which can be detected during pregnancy, my decision was to forego almost all of the genetic tests which are currently available, and instead, consistently remind myself that most babies are born healthy.

Even when additional genetic carrier screening became available in the middle of my pregnancy, I opted to wait to update my testing, in order to avoid unnecessary stress and anxiety. I will update my carrier screening at an appropriate time for me, which is not in the middle of my pregnancy.

And yet, many of my genetic counseling colleagues (since we obviously all discuss what we would do…) would choose the complete opposite route. They would do extensive prenatal genetic testing, extensive carrier screening, and want to find out as much information as possible about the genetic make-up of their baby.

Which is the “correct” decision? Well, we each make the correct decision for ourselves. Knowing myself, and knowing all of the many genetic testing options out there, the “low tech” route was correct for me. Someone else? Well, that person will need to weigh the options and figure out which route is correct for them. Genetic testing is always a personal decision. Only you can answer the “Do I want to know?”, “Will this information be helpful for me?”, “Is now the right time?”, and “How will I use this information?” types of questions in order to come to the correct answer for you.

Asking the Right Questions

We spend a lot of time talking about Ashkenazi (Eastern European) Jewish Genetic Diseases and testing. But a friend recently asked me, how do we know who is Ashkenazi and who isn’t? The simple answer is, we ask! Every single patient! Most of my patients think it’s a very strange question, and some do question why I’m asking about Jewish ancestry. I explain that there are certain conditions which are more common in different populations, and depending on your specific ethnic background, I may offer additional testing.

A story to illustrate:

A number of years ago I met with a Jamaican woman during her pregnancy. She was coming in for a very routine appointment, for us to review all of her prenatal genetic testing options.

As I was taking her family history, she explained that her husband was Irish, so her older son looks more like her husband, with pale white skin, freckles, and light curly hair, and unfortunately did not appear to be black, even though she is. She also said that often when she takes her son to the park, women think she is his babysitter and not his mother.

When I asked if she has Jewish ancestry, she replied, “Funny you should ask that. My grandfather was Jewish, from Poland!” She then went on to explain that although she does not identify as Jewish, she lives in community where there are a lot of Jewish families, and she sends her son to the local Jewish preschool, since it is one of the better local schools. When she takes her son to the park and he’s running around and playing, he’ll call out to her, saying “Ema! Ema!” (Hebrew for “Mommy! Mommy!”), since that’s what he learns in school. All the other Jewish women in the playground look around wondering who this child belongs to, as she calls out to him “Ema, I mean, Mommy is right here!”

I spoke with her about Ashkenazi Jewish carrier screening, and specifically carrier screening for Tay Sachs disease, as Tay Sachs disease is common in both the Ashkenazi Jewish and Irish populations.

As her appointment came to a close I walked her out of my office and gave her my card. “How do you pronounce your name again?” I explained that the “Ch-“ sound is sometimes difficult to say, but ‘Chani’ roughly translates to ‘Grace’. “Oh, that’s a beautiful name! You know, if this is a girl…” she said, as she pointed to her belly. “No, that’s probably not a good idea.” I said. “If you think it’s frustrating now with your son running around calling you ‘Ema’, it’s going to be much worse if you name your daughter “Chani”.

For better or for worse, regardless of how you identify religiously, if you have Jewish ancestry, you could still be a carrier of a Jewish Genetic Disease.  Even having only one Jewish grandparent will cause me to offer you Jewish carrier screening. So especially for those who may never meet with a genetic counselor and are not “identifiable” as Jewish, be sure to mention it to your doctor and ask about Jewish genetic carrier screening!

For a list of conditions we currently screen for, click here.

To be screened through our program visit our genetic testing website.

To find a genetic counselor visit: http://www.nsgc.org/findageneticcounselor/tabid/64/default.aspx

We Get By With A Little Help From Our Friends…

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Who of us isn’t guilty of it? You have a legal issue you’re worried about, you run it by your friend, the lawyer! Your son’s fever is just a little too high, you call your neighbor, the pediatrician! And when it comes to your friendly neighborhood genetic issues, I often get some of those calls. To be honest, I don’t mind. My genetics knowledge doesn’t help anyone with scraped knees, bad cuts, or medication related worries, but when it comes to genetics issues, I’m your gal!

Recently I had a fantastic conversation with a good friend. It went something like this:

Friend: I have some good news! We’re expecting!

Me: That’s fantastic! I’m so excited for you guys.

Friend: Oh, I have news for you.

Me: More news? (Something more exciting than that you are expecting??)

Friend:  We did the Ashkenazi Jewish genetic testing a couple years ago, neither of us are carriers. I did Fragile X testing, and I’m not a carrier.

Me: That’s great! BUT you should make sure to update your Jewish carrier screening.  There are a few more tests since you guys were tested (I think).

Friend:  Really?

Me: Yea, if you tell me how many you were tested for- I can tell you what you’re missing  and either a genetic counselor or your doctor can order the new ones. My guess is it’s only 2 or 3 more

Friend: Bloom, Canavan,  CF, Familial Dysautonomia, Gaucher, Neimann-Pick, Mucolipidosis type IV, Tay-Sachs. That’s it.

Me: Oh. there are actually many more. Don’t freak out. They are not all super common,  but it’s good to test just to be sure.

The pdf is the list of 18 Jewish genetic diseases +SMA+Fragile X that i give to my patients.

Click to access table%20of%20diseases-AJ%20SMA%20FraX.pdf

Friend: They want me to test for spinal muscular atrophy, too.

Me: Yes, I’d add that on too. It’s not a Jewish genetic disease, it’s common in all populations  but you fall in to the “all populations” category too. Similar to Fragile X.

Bottom line is, I’m grateful that I can be a resource to my friends about all of the “genetic stuff”, as long as they don’t  mind me calling them about my twisted ankle..

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