I was provided a JScreen test to facilitate this review. All opinions are my own.
I've always worried about my genetic makeup a little in the back of my mind. Breast cancer runs in my family along with some others that I need to look out for later in life. So I've been wanting to get a genetic screening done on my DNA to see what I could be at risk for and what my children could possibly be at risk for. What I found out took me completely by surprise.
The JScreen test is super simple and easy to do. The ordering process is extremely easy to follow along with. Whenever you do any genetic testing to discover possibly illnesses you have to go through genetic counseling. What this means is that before you take the test JScreen plays you a video that walks you through the process and explains to you what your test results could possibly mean. They also have an amazing staff that I've spoken to numerous times before, during and after the process. If you are planning on doing any type of genetic testing you need to make sure you're getting that counseling. You could get a result that is scary to see but in some cases not be a threat. Having someone that knows what their talking about helps ease that stress.
After I filled out the online form, JScreen sent my kit out to me. This genetic test requires your saliva so it comes with a collection tube that you have to spit into until there is enough for the sample to be tested. It has a biological return package as well so you don't have to worry about any shipping.
I did an expanded panel for my test. My results came back fast and it was a simple easy to read form that read, No known or potential disease-causing mutations were detected. Which is comforting to hear. A week or so later JScreen called me to let me know that they found an enzyme in my code that may be a variable of Tay-Sachs. I was floored. At first I thought that maybe I just have some Jewish heritage in my blood line that I didn't know about, but after a quick google search I found out that the Irish community has started to show multiple cases of the Tay-Sachs gene and variables. There are actually studies being conducted to do extended testing in Irish families to see if the variable is present. JScreen even asked me if I was interested in possibly being apart of the study. If I decide to do the testing I would go in and have my blood drawn. They would further test the specific DNA strand to see if the variable is significant in future possibilities. There was a lot of genetic / scientific jargon I didn't understand but she explained it to me in a way that I could. It was very helpful.
Learning this has been an eye opening experience. Had I married someone that also has this gene there is a high chance that our children would have the disease. I'm done having children but if I did want more I would want to make sure that that risk is low. They suggested that if I ever change my mind about having anymore children that I should get my partner tested first to see if he carries the gene. I realize now why it can be incredibly important to do genetic testing if you are starting a family and have something you might pass down. In my case Tay-Sacs would be a devastating diagnosis no parent wants to hear. I know know my risks and can better plan for it in the future. I'm so glad I decided to take the test even though I'm done having kids. If the study is conducted here in Atlanta with Emory University I think I will do it despite my fear of needles. Science can only move forward when there are volunteers and I can share a little blood and a little pain in the name of science.