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Meeting with a genetic counselor

PHOTO: Paul Kuntz

“I honestly don’t know much about genetic testing; my doctor just told me to come here.”

When I ask my patients if they understand why they were referred to genetic counseling, this is close to the most common response.

I get it – genetic counselors aren’t exactly top-of-mind when it comes to specialty care providers, falling far behind pediatricians, cardiologists or neurologists. But we play an equally important role in caring for many families at all different stages of life.

Here at Texas Children’s Pavilion for Women, our board-certified medical geneticists and counselors are focused on the genetic health needs of women and couples who are either currently pregnant or planning a future pregnancy.

How can genetic counseling help me?

Our genetic counselors will work with you and your physicians to understand complex genetic information and help you make informed choices. We take into account your own view of risk, family goals, and ethical and religious considerations.

We might be able to reassure a couple that a particular health condition present in their family has a low chance of impacting a future pregnancy. The results of genetic testing might also help a family plan how to achieve a pregnancy, such as undergoing in-vitro fertilization (IVF) to test embryos for a severe genetic disease.

When a family’s unborn baby has a severe health issue, genetic information can help parents in planning for their child’s needs and making decisions about the management of their pregnancy or the baby’s care after delivery.

The genetic diagnosis also helps the physicians involved in the baby’s care plan for appropriate treatment, surveillance or cross-specialty care.

What can I expect in a genetic counseling visit?

  • Appointment length: The average appointment will last an hour. This gives you and the counselor enough time to discuss your history, perform a risk assessment and discuss testing options.
  • Goal setting: The counselor will ask what you hope to get out of a session and what your particular questions/concerns are. This helps us ensure the consult is addressing your specific needs.
  • Genetic health history: The counselor will also ask for information concerning your personal health history, family health history, ultrasound results (if pregnant) and previous genetic testing. We then draw a map of the family tree – a pedigree – to determine if there’s a pattern of health concerns in the family that might pose a risk to your pregnancy. It might be helpful to talk to family members before your appointment regarding any history of birth defects, intellectual disability or known genetic disorders.
  • Assessment and options: The counselor will assess all of this information, talk to you about any risks specific to your family and offer appropriate testing options. If you choose to pursue testing, they will follow up with you regarding the results and what they mean.

What are some common misconceptions regarding genetic counseling?

  • "Everyone in my family is healthy. There’s no reason for me to see a genetic counselor."

Great! It can obviously be reassuring if your family members are healthy and there are no known risk factors to consider. However, genetic counselors can also help you check for hidden risk factors – we all unique genetic changes that could impact a future pregnancy if your partner possesses a risk factor for the same disease. 

  • "Genetic counselors will push me to do testing."

We understand genetic testing isn’t the right choice for every family. The most important thing is that you have a good understanding of what’s available and make the decision that feels right for you. Testing options are just that – options!

  • "I already had a blood test during my pregnancy – I’m pretty sure that covered all of the genetic conditions."

Today, there is no “one size fits all” test for every known genetic condition. In fact, most of the blood tests performed during pregnancy target just a handful of the most common conditions. While a normal test result is reassuring, it doesn’t completely rule out the condition.

The field of genetics is rapidly changing, and our genetic counselors serve to provide expert, up-to-date information and guidance to families and their other providers. Whether it’s a one-time visit or a long-term relationship through multiple pregnancies, we’re committed to providing families with the best possible care.

To learn more about Baylor Prenatal and Reproductive Genetics at Texas Children’s Pavilion for Women, click here.