Blog Archives

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.

%d bloggers like this: