Ask the expert: What you need to know about working with a genetic counselor

Genetic testing can be complicated, so it’s important to have a trusted source to help you answer questions and understand your test results. 

Whether you’re pursuing genetic testing during your reproductive journey or want to learn more about your hereditary cancer risks, a genetic counselor can help. Together, you and your genetic counselor can identify genetic health risks, explore appropriate genetic testing options and discuss the implications of different genetic test results to guide thoughtful healthcare decisions.

Learn more about what to expect during a genetic counseling session from Michaela Mundt, MS, LCGC, a licensed genetic counselor at Labcorp. Mundt has over three years of experience working in prenatal genetic counseling for Labcorp, and she has presented research at both regional and national genetic counseling conferences. She has also supervised genetic counseling students in their clinical rotations for multiple genetic counseling programs.

When does a patient typically see a genetic counselor?

In the past, patients were referred to a genetic counselor only after a diagnosis of a genetic condition. Similarly, with prenatal genetic testing, patients would only see a genetic counselor once they were already pregnant.

Now, proactive genetic counseling is often the focus. Having genetic insights available earlier, and a genetic counselor to help you decipher these insights, may help you make major life decisions on a more informed basis. We see this in multiple genetic counseling specialties, including hereditary cancer, prenatal care, rare diseases and other areas.

What information does a patient walk away with after a genetic counseling session?

One of the most significant insights that patients walk away with after a genetic counseling session is an understanding of their individualized risk—whether it’s their risk for an inherited genetic condition that may be in their family already, or just a general risk for genetic conditions.

Typically, a session starts with a lot of information gathering. It’s very conversational. It’ll likely feel different from a regular appointment with your healthcare provider because we dig a bit deeper into certain aspects of your health background. For example, we usually ask detailed questions about family history, even going back a few generations to see both the maternal and paternal sides of the family tree. This might include everything from diagnoses among different family members to their pregnancy history. Then we take all that information and run it through our risk models to get a better picture of a patient’s individualized genetic risks. What risks are they facing, and how might those risks impact future healthcare decisions? What testing options are available related to those healthcare decisions?

Can you explain the difference between a comprehensive genetic counseling session and a genetic counseling results session?

As explained above, comprehensive genetic counseling sessions typically focus on thorough information gathering (e.g., family history, risk assessment). We might also talk about genetic tests to consider taking, and we may even begin ordering genetic tests.

In a genetic counseling results session, a test has already been ordered, and the genetic counselor is discussing that test result with the patient. It’s usually a much shorter session, as there is typically less information-gathering at that point. Instead, we’re focused on what we know now based on those test results. We might still consider whether a comprehensive session is needed as well. Either type of genetic counseling session can lead to the other.

How does a patient see a genetic counselor?

You will often be referred to see a genetic counselor by another provider (e.g., OB/GYNs, physician assistants, nurse practitioners). Many medical professionals refer patients to my clinic for maternal fetal medicine (MFM) or ultrasound services, as well as genetic testing. Self-referral for genetic counseling is also available. There are genetic counseling telehealth services that can support this option.

For genetic counseling appointments, all my patients are seen virtually, either over the phone or through telemedicine. We serve a very rural community, so virtual visits can spare patients long drives and time away from work. Coming into a doctor’s office can also cause anxiety for some, so sessions over the phone or video call are a helpful alternative.

Of course, in-person genetic counseling sessions are an option as well. Typically, you meet with your genetic counselor at a table in a private room. You’re not in a standard healthcare provider’s exam room, lying on a table with scratchy paper. In most cases, you don’t have to wear a gown or do a physical exam; it’s just a conversation. That said, some genetic counseling sessions are paired with another exam where a patient might need to be in a gown, especially in cancer clinics.

How can genetic counseling help individuals with a family history of a genetic condition?

Genetic counseling can help you understand your family medical history and how it affects your risk for genetic conditions. The potential for inherited risks can seem scary, but having clear information regarding your risk can often reduce that fear and give you a better understanding of what to do next.

If there is a harmful genetic variation (i.e., mutation) present in your family, we can get a better idea of how that mutation might be passed through the family tree. What are the chances that you could carry that mutation or be affected by a condition caused by that mutation?

In genetic counseling sessions, we focus on talking through all your options and making sure you have the information you need to make decisions that are best for you and your family.

What are the options available (both routine and non-routine) for reproductive genetic testing and genetic counseling?

For a reproductive genetic counseling session, we often break it down into testing for the baby and testing for the parent(s). Each type of test will give you different information, and each one has a different level of invasiveness.

Most of the time, routine testing involves blood testing on the mother. For example, non-invasive prenatal screening/testing analyzes genetic information that enters the mother’s bloodstream from the placenta. This testing can provide information on whether the baby has any missing or added chromosomes, and it can help determine the sex of the baby earlier than an ultrasound. This type of blood testing for the mother is routinely ordered for most patients at all ages and risk levels.

The other blood test routinely offered to parents during pregnancy is carrier screening. This involves looking at specific genes in both parents to see if there are any genetic mutations to the DNA that could cause a certain condition in the baby. Carriers of a genetic mutation are often healthy and show no symptoms of the condition they’re carrying. Testing both the maternal and paternal sides in a pregnancy provides more information about the baby’s risk of developing a genetic condition versus their risk of becoming a carrier of that same genetic mutation or variant present in their parent(s).

There are also genetic testing options in pregnancies involving fertility treatments like in vitro fertilization (IVF). When a patient is going through IVF, which may entail a sperm and/or egg donor, some individuals choose to have genetic testing done on their embryos (i.e., preimplantation genetic testing, or PGT), long before pregnancy even happens to see if the embryo has any chromosomal or other genetic abnormalities.

Less routine examples of genetic testing during pregnancy may include more diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS). Both tests provide a direct sample of a baby’s DNA during pregnancy. However, they are both more invasive than routine prenatal genetic testing, so it’s important to speak to a genetic counselor about weighing the risks and benefits of each type of testing.

Bottom line: There are a lot of testing options. Speaking with a genetic counselor can help you understand all the options and what testing makes sense for you. 

Remember: Testing doesn’t always have to be done. Patients and genetic counselors can work together to determine whether testing is necessary or useful.

In hereditary cancer genetic testing, we hear a lot about BRCA mutations and the risk of breast cancer. What other mutations are there that are important to learn about?

For hereditary cancers, providers typically order genetic testing panels that include many different cancer genes. BRCA1 and BRCA2 genes are on those panels, but there’s a wider selection beyond these two genes. For example, genes associated with Lynch syndrome—a condition that increases the risk of multiple types of cancer, including colon cancer—are sometimes included in multi-gene test panels.

By casting the net out further, we can detect certain genetic mutations that may have been missed in previous generations. For example, if a patient has the same breast cancer as their mother, who tested negative for a BRCA mutation, multi-gene test panels may be able to help explain the hereditary risk. Hereditary cancer genetic testing seems to improve every year. More genes are discovered, and we learn more about different genetic cancer risks associated with those genes. Stay in touch with your genetic testing provider for updates on advancements in genetic testing and whether retesting may be appropriate. 

With genetic testing overall, we talk a lot about women’s health. Can you speak to the importance of genetic testing for men’s health as well?

This is a huge misnomer that men don’t need to worry about genetic risks, especially in hereditary cancer when the family history is dominated by cancers of female organs. Some cancer genes, such as BRCA2, have male-specific screening recommendations for breast cancer, as well as other cancers that affect men like prostate cancer. If you have close family members who have had cancer, especially if they were young (<50 years old) or have had cancer multiple times, you should see a genetic counselor—regardless of gender.

Additionally, in reproductive settings, it is often thought that only the mother needs to get genetic testing or fertility testing. Half of the baby’s DNA comes from the father, and mutations can be passed down from either parent for most genetic conditions. It is also useful for the father’s family members (regardless of gender) to know of any genetic disorders that they could be at risk for. 

What is your advice for someone who may be anxious about speaking with a genetic counselor?

It’s normal to feel anxious about a genetic counseling appointment. You might be covering topics you’ve never discussed before, or you may have test results you don’t fully understand or are still processing. You may not have all the answers, but that’s OK. These are heavy topics, but we’re here to help you through these conversations.

It can be helpful to prepare before a genetic counseling session. Call family members and see if anything has changed in your family’s health history, or if any distant relatives had certain health conditions. If there’s an old family story about a health condition, try to dig a little deeper and get more details on the diagnosis and what happened in that instance. If you can, bring the results of any genetic testing you or a family member has had in the past. Common names for certain health conditions aren’t always the genetic names for those conditions, so having the genetic test results report provides useful information to your genetic counselor about the exact gene. 

In some cases, you’ll receive an email with guidance on how to prepare for your genetic counseling appointment. This may include forms, documents and questionnaires about details like medical history or health insurance. Taking the time to fill out these forms ahead of time can help you feel more prepared for your appointment. Consider bringing the documents to a parent or sibling’s house and talking through each question with them, as they may be able to help fill in the gaps and be part of the healthcare journey.

It may also ease your anxiety to know that your genetic counseling session is just a conversation, and it has a timeline.  These appointments are typically between 30 minutes and an hour, so you’ll be able to get it done efficiently and decompress if anything was particularly triggering or difficult during the session. If you think the session will be difficult for you, you can always bring a friend or loved one for support, or it may help to schedule a break in your day after the appointment to decompress.