Genetic Counseling: Can It Help When You’re Trying to Conceive?

Genetic counseling can feel intimidating to approach if you’re trying to conceive, especially because genetic issues are largely out of your control. But, genetic counseling can actually be helpful and informative in your trying to conceive (TTC ) journey. To better understand genetic counseling, we interviewed Caitlin Russell, a genetic counselor in-training. This post will cover:

  • Genetics 101: How do genes work in the first place?
  • How can genetic counseling be helpful?
  • When should you seek genetic counseling?

Genetics 101: What do you need to know about genes?

If you meet with a genetic counselor after receiving genetic testing, they will ensure that you understand your report and results thoroughly. But, it can be useful to know about some of the important terms ahead of time. To help you better navigate this field, here is a list of terms that could be helpful:

  • Gene: Sequence of DNA that tells our body how to do a specific job
  • Chromosome: How genes are packaged in each cell. Cells typically have 46 chromosomes, which are divided into 23 pairs: one copy in each pair comes from the mother, and one comes from the father.
  • Allele: Different versions of a gene. Because you typically have two copies of each chromosome, you could have either one or two versions, or allele, of a particular gene.
  • Dominant allele: An allele that is expressed regardless of whether only one or both copies of the gene have that allele
  • Recessive Allele: An allele that is expressed only if both copies of the gene have that allele
  • Heterozygous: When the two copies of a gene have different alleles
  • Homozygous: When the two copies of a gene have the same allele

Here’s a fun example: ever wonder about the genes of earwax? Probably not. But, it’s pretty good example how genetic inheritance from parents to babies works. The gene responsible for creating earwax comes in two versions or alleles: the allele that makes earwax white and dry, and the allele that makes earwax yellow and sticky. So, for gene that creates earwax—let’s call the gene “E”—there is the dominant version (aka “E”), which makes sticky earwax, and recessive (aka “e”) which makes the dry version. If a baby inherits an E allele from the mother and another E from the father, then the baby has two E’s (EE), which is homozygous, and will have sticky earwax. If a baby inherits one E and an e, then the baby is heterozygous (Ee) and will still have sticky earwax, because the sticky allele is dominant. The only way to get not-so-sticky earwax? This happens when the baby inherits two e’s or recessive alleles from the parents.

What do genetic counselors do?

A genetic counselor is a trained professional who can help you determine whether or not genetic testing is appropriate for you. Genetic testing is offered to see if you carry certain genetic changes, and genetic counselors provide support for you to use that information. This includes:

  • Explaining the benefits and limitations of genetic testing
  • Assessing what type of genetic testing may be the most appropriate for you
  • Presenting the test results to you and your partner in a way that ensures both of you understand the results as well as their implications for you and/or your baby’s health
  • Explaining how your or your partner’s genetic background impact fertility and chances of conceiving
  • Explaining the likelihood of your baby having certain health concerns
  • Answering questions relevant to your test results
  • Referring you to other specialists and providers as needed
  • Providing psychological support if distressing issues related to the test results arise

What are genetic counselors NOT allowed to do?

Learning genetic information about you, your partner, and your baby is a highly sensitive topic, and the process of genetic counseling is strongly guided by ethical regulations. Here are some of the topics and tests that genetic counselors do not discuss or perform:

  • Test for adult-onset disease risk in the baby, such as whether the baby carries a genetic risk to develop Alzheimer’s disease
  • Discuss “good genes,” “the best genes,” or anything eugenics-related
  • Be directive about whether or not termination should be performed

Who should see a genetic counselor?

According to Caitlin, everyone who is TTC. A wide variety of people can benefit from genetic counseling, from gaining insight about pregnancy outcomes to their personal health. For women trying to conceive, genetic counseling can be informative for understanding a couple’s pregnancy outcomes and make decisions together.

When should you seek genetic counseling?

While many women wait until they become pregnant, Caitlin recommends women see a genetic counselor before becoming pregnant. Genetic counseling can help with the conceiving journey because finding out genetic information after the baby is conceived can potentially increase anxiety and may limit options. If you see a genetic counselor earlier, then you and your partner can have an informed discussion about how genetic risks impact the choice to carry the baby to term, consider financial, emotional, and medical management factors, and reduce anxiety by preparing ahead of time.

How can genetic counseling help if you are trying to conceive?

Regardless of where you are in your fertility journey, genetic counseling can be helpful for the following reasons:

  • Ethnic background and genetic risks: Certain ethnic backgrounds are at an increased risk for certain genetic diseases. For example, the recessive allele associated with Tay Sachs disease, a condition which is typically fatal within the first few years of life, is prevalent among the Ashkenazi Jewish population. While being of this background does not definitively mean your baby will develop this condition, a genetic screen of you and your partner (called carrier screening) can inform the likelihood of your baby having genetic conditions related to your ethnic backgrounds.
  • Recessive conditions: Even if you and your partner do not have certain conditions, either or both of you could be carriers of recessive alleles associated with a genetic condition. If both partners are carriers of that recessive allele, then the baby has a 25% chance of developing the condition, even if both parents are unaffected. So, genetic counseling can be informative for revealing when one or both parents carry a recessive allele that may impact their baby’s health.
  • Recurrent miscarriages: If you have been struggling with recurrent miscarriages, genetic testing can help determine whether genetics or other factors may be contributing to pregnancy loss.

What is a genetic screen versus a genetic test?

If you seek genetic counseling, you may be offered a genetic screen or a genetic test. While both typically involve a sample of your blood, saliva, or amniotic fluid, they provide different types of information:

  • A genetic screen can tell you the probability that you carry a certain genetic risk factor, but cannot give a definite yes-or-no answer. The purpose of a genetic screen is to identify whether additional testing may be especially helpful in your case.
  • A genetic test provides information about certain genetic changes with very great accuracy. However, because genetic tests can be more expensive, difficult to perform, take a longer time to get results, and/or carry health risks that screens may not, a genetic screen can be an informative first step for deciding when genetic testing is helpful.

How is genetic counseling different from at-home genetic tests?

According to Caitlin, at-home genetic tests are VERY different from genetic counseling. While at-home genetic tests are convenient, they are not as informative as genetic counseling. At-home genetic tests are designed to determine whether you carry some of the most common or interesting genetic changes. However, just because an at-home genetic test says you don’t carry the common genetic variants doesn’t mean you aren’t carrying other, less common variants that may affect your health in a similar way. If you carry variants that at-home tests are not designed to detect, then you may miss vital information for your health by only using information from the at-home test. However, genetic counselors are trained to assess your family history, ethnic background, and current health to determine what are the most relevant genetic changes to look for in you, regardless of how prevalent the genetic change is in the general population.

Also, at-home genetic tests put the burden of interpretation on you. Interpreting your genetic risk and what that means for your baby can be incredibly complex and even scary. Caitlin explained, “A genetic counselor is professionally trained to communicate the nuanced interpretation of the results to you, and to be sensitive to those results’ potential impact on you and your family. Our job is to present the information in way that’s balanced and clear, as well as be there to support you.”

What if I change my mind and don’t want to know the results?

Caitlin mentioned that this is definitely a possibility and completely understandable. Genetic testing is always optional, and a big part of a genetic counselor’s job is to help you determine if these are results you want to know and can use. A genetic counselor would definitely support you not knowing the results if that’s your choice. If you and your partner already decided that you would want to carry the baby regardless, genetic counseling can still be helpful. Genetic counselors are available to discuss management of the pregnancy, anticipated health concerns for the baby, and to provide support and resources such as referrals to specialists and support groups.

How expensive is genetic counseling?

Financial concerns can unfortunately be a barrier to genetic counseling. Caitlin explained that while cost usually varies from case to case, genetic testing is typically covered by insurance if considered to be medically necessary. Part of a genetic counselor’s job is to determine when this is the case and to advocate for their patients when insurance disagrees. Many genetic testing laboratories also have out-of-pocket discounts.

What should women know about genetic counselors?

We asked Caitlin what she wishes more women knew about genetic counseling, and here were some other key messages she wanted to share:

  • Dads matter too! Women often shoulder the burden of fertility and pregnancy complications, but sperm quality and a father’s genetic background can be just as important to assess as the mother’s genetic background.
  • This is an opportunity for couples to come together. In fact, genetic counselors are trained to help the couple work together to make decisions, so it’s important for both partners to be present at a genetic counseling session.
  • There are so many more services that genetic counselors provide beyond genetic testing. Their primary job is to help you make an informed decision that fits with your values and personal circumstances, and this may or may not include genetic testing.

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