No Babies Yet But I Did Carrier Screening Anyway, Here’s What I Thought

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At 24 with few (read: no) thoughts of having a baby, I decided to take Recombine’s carrier screening test. A carrier screening test takes a look at your genes by way of a blood or saliva sample. I took the simpler and definitely messier route of a saliva sample. After thirty minutes without food or drink, I struggled to get just enough spit into the tube. I shipped my tube away to the lab and thus began the journey from spit to data to results.

At first, I did not anticipate anything. The wait felt a lot like waiting for any other test result. You start in the “I’m sure this will be nothing” and tip-toe into the “what if it is something”space. When my results were ready I received an email to schedule an appointment with a genetic counselor. I will be honest, I didn’t expect to be identified as a carrier for a high-risk disease, and it was a little unsettling.

My consult began with a review of what the test is and what it looks for. A carrier screening test determines your carrier status and gives you an understanding of your risk to pass on any of the diseases tested for to your future child. During my consult I learned I was found to be a carrier of a high-risk disease. What does that mean? A high risk-disease is one that has a “significant impact on life expectancy and quality of life”. My genetic counselor went over details of the condition and we discussed the treatment options that exist for a child with that condition. She took the time to answer all of my questions (there were a lot):

How common is this disorder?

Is it on newborn screening panels?

What if my (future) partner is a carrier?

Our conversation brought the reality of a genetic disorder to my eyes and at the same time informed me of all the family planning options available if I were planning for a baby now. With all of my questions and her undivided attention I felt very much like a patient in her care.

There are a number of ways this story could have gone– I could have learned that I was not a carrier for any of the over 300 diseases included in the test, I could be a carrier of a moderate impact disease, one with treatment options, or one with no known treatments yet. When you are a carrier for a high-impact disease, however, the recommendation is that your partner be tested as well. If your partner is found to be a carrier of the same disease, you can have a conversation about prenatal testing options or whether or not you want to pursue embryo screening via PGS or PGD.

This is the very reason why many advocate for genetic screening before pregnancy. Being informed about your carrier risk allows you time to talk to your doctor or genetic counselor about the health of a coming baby or to seek more information about many different things, including IVF.

Genetic counselors are trained to gauge your understanding of genetics and walk you through your results, what they mean in context with your family history, and what next steps are available to you as you move forward in your family planning. My genetic counselor did a great job of explaining what my results meant, going over statistics, all the “what ifs”. I cannot stress enough that everyone should speak to a genetic counselor when they do any sort of genetic testing.

It’s difficult to think about what I may do years from now under different circumstances (IVF? PGD? Cue headspin) but it feels good to know that there are people to help me navigate this space. While I know that there is no way to eliminate all risk of disease, I feel confident in knowing I can ask questions and make decisions that are right for me (and my way, way future family).

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About Author

Stephany Foster

Stephany Foster is the Associate Scientific Writer at Recombine, a genetic testing company based in New York City. She writes on topics spanning fertility, reproductive medicine, and recent advances in genomics. Stephany also writes about recently published research that Recombine presents at conferences and meetings around the globe. Before joining Recombine, Stephany interned at the George Church Lab at Harvard Medical School. She graduated from Brown University with an A.B. in Biology in 2014.