Science Simplified: What is Genetic Counseling?

Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science accessible and empower rare disease community members with scientific knowledge. Dr. Brown has over a decade of experience in neurodevelopmental research and is currently the Scientific Director for TESS Research Foundation. Please reach out to her at [email protected] if you have questions or comments.

This article was written by Baergen Schultz, a genetic counseling graduate student at the University of Pennsylvania. Baergen completed an internship with TESS Research Foundation.

The goal of genetic counseling is to help you learn more about how genetic conditions might affect you or your family. Genetic conditions are caused by a change in the normal DNA sequence, which is the foundational instruction manual that our bodies use to function. Everyone has changes to their DNA, that is what makes us all unique! However, most changes have no effect on our bodies and how they function. Only some changes cause disease. Some diseases are caused by changes in DNA that are passed down from parents and are present in an individual at birth. These are called inherited conditions. Other diseases are caused by changes in DNA that happen throughout a person’s life and can occur randomly or due to an environmental exposure, such as tobacco.

Understanding genetic conditions and whether you or your family members might be at risk of disease can be complicated and overwhelming! Luckily, this is where genetic counselors can step in and help make sense of genetic information.

Who are Genetic Counselors?

Genetic counselors have training in medical genetics and counseling and play an important role in healthcare teams, such as the SLC13A5 healthcare team which can be seen in the figure below. While most genetic counselors work in a clinic or hospital, they may play other roles such as writing genetic test reports, helping with research, teaching, and many others! While genetic counselors can work in different settings, all genetic counselors promote understanding of genetic information to improve the lives of people with genetic conditions.

Genetic counselors can:

  • Guide you in understanding how inherited conditions might affect you or your family
  • Provide information about genetic conditions
  • Review your family and medical history to find out if you or your family member might be at risk for disease
  • Offer guidance to help you decide whether genetic testing might be right for you
  • Help make sense of genetic test results
  • Provide supportive resources such as advocacy and support networks, referrals to medical specialists, and other resources to help you manage a genetic condition
  • Provide emotional support throughout the process and empower you to make informed choices or life plans

Genetic counselors can specialize in many areas such as prenatal, pediatric, oncology, psychiatry, and many others! For example, those who are diagnosed with SLC13A5 Epilepsy may meet with a genetic counselor who specializes in neurology. Genetic counselors play many different roles and have different tools to help in their jobs, as you can see in the figure below.

Reasons for Genetic Counseling

There are many situations and reasons for seeing a genetic counselor. You may be referred to a genetic counselor by a doctor, or before or after having genetic testing. Below are just a few examples of a time you might meet with a genetic counselor.

  • You are pregnant, or considering becoming pregnant, and are concerned about the health of your baby.
  • You, your child, or a family member has been diagnosed with a genetic condition.
  • Your family has a history of cancer, developmental disability, or another condition that may be due to an inherited change.
  • You are worried that you, your child, or a family member has a genetic condition and would like more information.

How to Prepare for a Genetic Counseling Visit

At the beginning of your appointment, you and your genetic counselor will come up with a plan for what you will talk about during the session. It might be helpful to come prepared with a list of questions you want to ask, which will help the genetic counselor address all of your concerns. During the session, the genetic counselor will ask questions about your family and medical history. You may want to ask your family members whether there are any medical conditions in the family ahead of your appointment. It can be useful to collect and bring any medical records related to your concerns, or any past test results you may have received. Finally, you may want to consider if there is anyone you would like to bring with you to your appointment for support, such as a spouse, family member, or friend.

Questions Someone Might Ask a Genetic Counselor

An important aspect of genetic counseling is that a session is a conversation. Your input during the session is very important and can help the genetic counselor fully understand your health and concerns. A few examples of questions you might ask a genetic counselor are below:

  • If my family member has a disease, am I at risk of getting it?
  • If I have a disease, are my family members at risk of getting it?
  • Are there any genetic tests available? If so, what will the testing process look like and how will I pay for it?
  • What does this diagnosis or test result mean?
  • How will this diagnosis affect my life?
  • What other specialists should I see?
  • What resources are there for people with this condition?

Genetic Counseling for SLC13A5 Epilepsy Patients and Families

Oftentimes, the initial reason SLC13A5 patients and their family members see a genetic counselor is to talk about a new diagnosis of SLC13A5 Epilepsy. Genetic counselors can help explain test results, connect patients with other specialists and resources such as TESS Research Foundation, and support families through a new diagnosis. Additionally, family members, including parents of affected children, siblings, and even more distant relatives such as aunts and uncles may also see a genetic counselor to discuss whether they could be carriers of an abnormal SLC13A5 gene, which may have implications for future pregnancies. SLC13A5 Epilepsy is an autosomal recessive condition, meaning those who inherit two abnormal copies of the SLC13A5 gene will have this severe form of epilepsy. Carriers are people who only have one abnormal copy of the gene. While they may be healthy and have no symptoms of SLC13A5 Epilepsy, there could be a chance they could have a child with SLC13A5 Epilepsy. A genetic counselor can help explain the inheritance of SLC13A5 Epilepsy and discuss risk and testing options for family members.

How to Find a Genetic Counselor

Your healthcare team might refer you to a specific genetic counselor in your area. The National Society of Genetic Counselors also provides a helpful tool to connect patients with genetic counselors. The Find a Genetic Counselor directory provides access to over 3,300 genetic counselors in the US and Canada. The directory can help you find a genetic counselor that offers in-person or telephone genetic counseling. To find a genetic counselor in your area, visit the directory here: findageneticcounselor.nsgc.org/.

Images were produced using BioRender.com.

We want to hear from you! If you want to add to our list of topics for Science Simplified, please email Tanya Brown, PhD: [email protected].

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