Genetic Testing Before Conception: Why You Should Do It

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Genetic Testing Before Conception - When you should get genetic testing

When a couple wants to get pregnant, it’s an exciting time before conception. You dream of what your children will look like and what kind of personality they’ll have. Very rarely do parents picture the worst case scenarios and the possibility of passing a genetic disorder on to their child.

But for some couples, this risk is real. Testing your genes before conception can be a way to find out if you have this risk. But in some cases, is there really a point to this test?

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What is genetic testing before conception?

Genetic testing is a simple blood test which usually takes only about two to three weeks to analyze before the results come back. But what do technicians look for in these blood tests?

In order to best understand how genetic testing works, here’s a quick review of DNA and genes. (It’s probably been a while since you’ve read your biology books, right?)

In the words of the genetic counselor, Sarah Kalia, “We all have DNA in every cell, and our DNA makes up our genes. These are basically instructions on how to grow and function. We have two copies of each gene, one from our mother and one from our father.”

So far so good, right? But just because genes give instructions, that doesn’t mean that whatever the gene says, goes. Genes need to be matched with the second gene in order to be expressed.

So, you might actually carry a faulty gene, but since you only have one of them, you don’t have a disorder. That’s because you need both faulty genes to be at risk for developing a genetic disorder.

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As Kalie explains, “Many genetic diseases are inherited in a recessive way.” So, one parent may have a genetic mutation, but that doesn’t mean they end up with a genetic disorder because they don’t have a second mutated gene in their body.

However, if each parent carries the same mutated gene, the child will inherit them, and there’s a risk that the child can end up with a specific genetic disorder.

Genetic testing can identify these five common genetic diseases

There are some advanced genetic tests available to couples. In fact, there are some that look at the entire genome of the individual.

However, others are simpler and can help identify whether parents carry these five common genetic diseases:

  • Cystic fibrosis
  • Sickle cell disease
  • Thalassemia
  • Tay-Sachs disease
  • Fragile X syndrome

No parent would ever want to willfully pass along any of these diseases to their child.

However, it’s important to remember that these diseases are prominent among specific demographies.

Plus, it goes without saying that there’s a higher risk for individuals whose family history include these genetic disorders.

When you should get genetic testing

According to Shivani Nazareth, the Director of Medical Affairs at DNA testing and genetic counseling center, Counsyl, “Screening should be universally offered in the preconception period.”

In her experience, she’s seen the devastation parents feel when they discover that their child has a serious disease. She’s also seen how testing enables parents to prepare and care for their child once he or she is born.

But even if genetic testing is available, why and when should you get it done? Here are some important facts to help you make an informed decision that aligns with your values and beliefs.

The family history of genetic disorders

It goes without saying that if you or your partner’s family has genetic diseases, it’s recommended that both individuals get tested to rule out whether they carry a mutated gene.

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Ethnic group risks

Over the years, researchers have identified patterns of genetic disorders among specific ethnic groups. Therefore, if you or your partner identify with any of the following groups, consider testing your genes before conception.

  • Ashkenazi Jewish, or Eastern European Jewish: Tay-Sachs, Canavan disease, familial dysautonomia, familial hyperinsulinism, Gaucher disease
  • African American: Thalassemia, sickle cell disease
  • Caucasians of Northern European descent: cystic fibrosis
  • French Canadian: Tay-Sachs
  • Mediterranean: Thalassemia, sickle cell disease
  • Southeast Asian: Thalassemia

How genetic testing impacts conception options

When test results come back, it can be good or bad news. But fortunately, if you get tested before conception, you can make an informed decision about how to move forward.

As a genetic counselor, Nazareth has seen that “Following carrier screening, some women use the information to consider alternative approaches to parenting, like IVF with genetic testing of embryos, sperm donation or adoption.”

In short, there are options, and you have time to think about the best one for you and your future family.

Why testing your genes is a bad idea

While preconception genetic testing can be a powerful tool for parents, it can also complicate building a family. Here are some reasons why.

Tests are not always conclusive or accurate

According to OB-GYN and reproductive endocrinologist, Rebeca Flyckt, M.D., “The downsides of genetic testing are that, as with any test, there are false-positives and false-negatives, meaning that screening tests are not 100 percent accurate.”

Screening tests are not 100 percent accurate.

Therefore, you may work yourself up and worry at a time that ought to be happy and exciting.

What’s more, even if both you and your partner test positive, there’s only a 25 percent chance that your child will inherit the condition, according to the clinical geneticist, Lakshmi Mehta, M.D.

Unplanned pregnancies can cause anxiety and stress

If both you and your partner undergo genetic testing and test positive for specific genetic disorders before getting pregnant, you can decide how to move forward.

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But what happens when you end up with an unplanned pregnancy, knowing your child may be born with a disease?

It can create stress, anxiety, and panic for some mothers. In a difficult situation like this, mothers are left with a few choices, both of which can be hard to live with.

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Testing your genes before conception is expensive

Having a baby is already pretty expensive, and preconception gene testing only adds to the bill. The out-of-pocket average is about $5,000 per parent. And if you test positive, it’s recommended that your partner gets tested, too.

If testing your genes before conception is something you feel comfortable with, and feel prepared for, it can be a smart decision for both you and your partner.

This is especially true if your families have a history of genetic disorders. It can also be a way to best prepare for your child before he or she arrives.


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