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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.

We Get By With A Little Help From Our Friends…


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..

New Year’s Resolutions: Think Ahead

As we begin 2013, we are all thinking ahead to how we could make this year a good one.  Many of us will come up with goals or New Year’s resolutions. I find that 2 of the most common things people promise themselves  is to spend more time with their families and to keep healthy. I cannot imagine how much gym memberships go up in the month of January!

I think we can approach both the family and health resolutions  from a genetics perspective. First, as you are spending all this time with your families, I urge you to open up and talk about health issues with them. I cannot stress how often my patients tell me about major medical problems in relatives that they don’t realize are genetic and may actually affect them as well. So if you have something, please don’t hide it from your families. And take the time to ask other family members if they have anything going on. Like it or not, genetics brings families together.

And keeping healthy—be proactive about your health. Yes, keeping healthy means maintaining a healthy diet, exercising, cutting down on alcohol and smoking, reducing stress etc. But it also means taking preventative measures to reduce the chance of developing a health problem. Health screening measures include (but are not limited to) blood pressure and cholesterol monitoring, mammograms for women over age 40, colonoscopies for men and women over age 50, vaccinations for children and other screening tests like bone density and prostate exams.

And of course, if you are thinking about having children in the near future, make sure to get tested for common genetic diseases that could affect your offspring, ideally before becoming pregnant. If you and your partner are both carriers of a genetic disease, there are preventative measures you can take to avoid having an affected child.

So make 2013 count—think ahead and do what you can now. Don’t wait until it’s too late.

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