Why I Decided to Do Genetic Screening Before Trying to Get Pregnant

I have two 23 & Me DNA test kits collecting dust on a shelf in my linen closet. The idea of spitting in a vial and possibly finding out that I have some life-threatening condition lurking in my DNA just waiting to make its fatal appearance freaks me out. I know my thinking is extreme, that there are incredible benefits to knowing your health risks before symptoms show, but I can’t control my concerns. Sure, I could opt out of the health results and just learn my ancestry, but I already know my test will come back that I am at least 99 percent Ashkenazi Jewish—both sides of my family emigrated from neighboring towns on the Russia-Poland border. My husband’s triplet brothers had the same ancestry results on their DNA tests so there will be no fun surprises for him either. That’s why his test still remains sealed next to mine.

But last month I did end up spitting into a DNA kit’s vial (they require a ton of spit, by the way!), however it wasn’t to learn about my family’s history or my health future. I decided to do screening through a saliva sample to determine if I am a genetic carrier for any conditions that I may pass down to my future children.

When my husband and I got married almost a year ago, I knew genetic screening was something we would do ahead of trying to get pregnant. If you are a carrier of a condition and your husband is not, your child is not at risk for the condition. However, if both you and your partner are carriers of the same condition, the odds go up to 25 percent for each pregnancy (are you getting flashbacks of Punnett squares from biology class yet?). Since both my husband and I have Ashkenazi Jewish ancestry, we are two times as likely to be carriers of fatal genetic conditions like Tay-Sachs or Fragile X syndrome. So why wouldn’t we do a test that can help us ensure the health of our future children?

As an editor for Parents.com, I know that most children born with genetic conditions have no family history of the disorder. I read and report on parents raising children with life-threatening genetic conditions they were not anticipating during pregnancy. Some know their child’s diagnosis at birth and set up GoFundMe pages to tackle the healthcare bills that pile up. Other parents know in their gut that something is wrong, but then it takes years for a doctor to track the genetic mutation causing the issues. I want to give my future children the best opportunity to have a happy, healthy life. If that means I need to spit in a vial to find out their risk for a scary condition and make hard decisions when I get the results, that is exactly what I am going to do.

My first step was to call my OB-GYN to make an appointment for blood work. It turns out that genetic screening before pregnancy is considered optional by many insurance providers, despite my family’s ancestry and risk, so testing could cost thousands of dollars out of pocket. No thanks! I started Googling other options. That’s how I came across JScreen, a genetic screening saliva test that screens your risk for more than 200 diseases that are predominant in the Jewish community. The not-for-profit program is based out of Emory University and tests samples in a CLIA-certified lab (so I knew it was legit) and is funded by several Jewish organizations so each kit only costs $149 whether your insurance covers testing or not. To order a test, I had to provide my doctor’s information so she can sign off and receive the results (they are shared through a HIPPA-compliant database), and that’s it. While you don’t have to be Jewish to order a JScreen kit, there are other at-home genetic screening kits available on the market, including Invitae, which is ordered through a similar process with your doctor and costs $250. For me, JScreen made the most sense.

Taking the JScreen test was easy (minus the more than 10 minutes it took to fill the vial—the instructions even offered suggestions on how to produce more spit like biting your tongue or cheeks—information I never thought I'd need), but I admit, I was nervous to find out my results. It’s easy to casually say I know exactly what I would do if it turns out I’m a carrier for something horrible, but when it comes down to it, it’s a hard reality to face. But I was glad I chose to work with JScreen since they gave me my results on a call with a genetic counselor rather than in an email I’d have to read and analyze on my own. During my results call I had a bunch of questions for my assigned counselor, Melanie Hardy, MS, MS, LCGC, the assistant director of genetic counseling services at JScreen (I am a journalist after all!). She told me that many couples who both test positive for carrying a condition find that the condition in question is mild and/or treatable.

Julia Wilkinson, the reproductive health genetic counselor at Invitae, also shared that it’s uncommon for both partners to carry variants in the same gene. “More than 95 percent of couples tested in our lab find that even if one partner has a potentially concerning mutation, the other doesn’t, so their overall risk of having a child with a genetic disorder is low.”

That’s good to hear, but it led to my next big question: But what happens if I do carry something serious? For me, the next step would be to have my husband take a test as well, then we would have to consider our options…

Hardy then told me that even if a couple learns they are carriers of a more severe condition, there are options for having a healthy child. “The news may be surprising at first, but once they find that they have the support of the JScreen genetic counselors who will answer their questions and provide information and resources, they are then equipped with what they need to have a healthy family,” she says. She explained the five options that couples have when they find out they are at an increased risk to having a child with a genetic condition:

1) In vitro fertilization with preimplantation genetic testing (PGT) of the embryo. To break it down simply, Hardy says that this process combines sperm and egg outside the womb, then the lab grows embryos and removes some cells from the embryos to complete genetic testing. Only those embryos that do not have the genetic condition get implanted.

2) Use of an egg or sperm donor (the egg or sperm donor will have been tested for the condition and found not to be a carrier).

3) Prenatal testing of the placenta (chorionic villus sampling or CVS) or amniotic fluid (amniocentesis) during pregnancy. This option comes with the caveat that the couple would have two decisions if the baby is found to be affected with the genetic condition: proceed with that information or end the pregnancy.

4) Adoption.

5) Test the child for the condition after birth and treat as needed or as available if the child has the genetic condition.

One common word kept coming up in my conversation with genetic counselors from JScreen and Invitae. Both called the testing process “empowering." And I totally agree. We all do so many things before and during pregnancy to ensure the health of our future children: take prenatal vitamins, eat healthy food, stop drinking alcohol, go to routine doctor appointments; so why would we not do a checkup for our future baby’s genes too?

“We can’t determine if there is a reproductive risk without testing and avoiding testing doesn’t prevent the possibility for devastating news about a child being affected,” says Hardy. “It is only with testing, preparation, and guidance that couples can make decisions to ensure a healthy family.”