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There’s much we can’t know about the future. But genes — which you inherit and are also how you pass down information about your health — can provide a clue.

Some health conditions have clear genetic markers and inheritance patterns. You either have a gene or you don’t. For example, cystic fibrosis and sickle cell disease are 100% genetic.

For other conditions, it’s more about risk or predisposition. For example, if your mother had breast cancer, you may want to know if you’re at risk. We know cancer has some hereditary features, but genes are only part of the story.

Genetic counselors help make sense of all of this. They meet with you and/or your family to talk about genetic factors in certain diseases. They’re information gatherers, advisors, and explainers.

Why See a Genetic Counselor?

Anyone can see a genetic counselor, but for some situations, they’re particularly helpful. People typically see a genetic counselor to learn more information, either before or after genetic testing.

Seeing a genetic counselor can help if you:

• Already have a child with a genetic disorder.
• Are pregnant, and prenatal screening suggests a possible problem.
• Have a known family history of a disease and are considering getting pregnant.
• Have a first-degree relative with a health condition (like cancer) that may have a genetic component.
• Have a first-degree relative diagnosed with a genetic disease.
• Have lost two or more pregnancies or have struggled with infertility.

Genetic counselors may focus on certain conditions or on specific populations. For example, genetic counselors specialize in areas like cancer, neurology, prenatal, and pediatrics.

What Does a Genetic Counselor Do?

A genetic counselor helps you make decisions about genetic testing. They also help you understand the results of genetic testing. However, not everyone who sees a genetic counselor will opt for or need genetic testing.

Their job is to give you information about how genetic and hereditary conditions might affect you and your family. This information can help you make decisions about having screenings, making lifestyle changes, and approaching pregnancy.

A genetic counselor will typically start by taking your medical history and a complete family medical history on both sides. They often use a program to draw a digital family tree going back a few generations.

They’ll ask detailed questions about family members who were diagnosed with certain conditions. For example, they’ll want to know the age at which a family member was diagnosed and whether they’re still living.

A genetic counselor can explain the hereditary element of known genetic diseases. Sometimes, we know the exact genetics involved, but other times, we don’t. They may use a genetic risk tool to help you learn your risk for certain diseases.

Finally, they’ll explain your options for genetic testing. If you complete genetic testing, they can meet with you again to explain the results.

What’s the Difference Between Genetic Counseling and Genetic Testing?

Genetic testing involves taking a medical test using blood or saliva.

A genetic test looks for changes in your genes and chromosomes. It gives you scientific information about your DNA. Genetic testing can provide or help confirm a diagnosis for a specific genetic condition.

Genetic counseling involves gathering information to help you decide what to do next.

Seeing a genetic counselor involves having one or more conversations about your family history and your risk for certain conditions. Genetic counseling is often part of the process of deciding if you want to pursue genetic testing.

Genetic counselors aren’t doctors. They’re health professionals with advanced training in genetics and genetic counseling.

How Can a Genetic Counselor Help Me?

Genetic counselors help in several ways. They can:

• Discuss preventive measures — For example, some women with mutations in the BRCA1 or BRCA2 genes opt to have one or both breasts removed. A genetic counselor can help you weigh the pros and cons of your options.
• Facilitate conversations between you and your partner about having children — Sometimes, these are fraught, emotional conversations. It’s good to have a third party to help frame up various issues.
• Help educate your health care providers — A genetic counselor can serve as a resource, helping both you and your care team in planning treatment. They can advocate for you.
• Help you develop a screening and surveillance protocol — For example, if you have a strong family history of colon cancer, you’ll want more frequent colonoscopies. A genetic counselor can help with your plan.
• Prepare for the results of a genetic test — A genetic counselor will help you understand what information a genetic test can and can’t give you. They can help set expectations and clear up misconceptions.
• Provide support and education if you, your child, or a loved one has a genetic diagnosis — They can connect you to resources that might help. They’re also trained counselors and can provide emotional support.

Does UPMC Offer Genetic Counseling?

You may see a genetic counselor on your own. But usually, a genetic counselor is part of a care team or a program that treats certain conditions.

At UPMC, our genetic counselors work with thousands of families each year.

We have a specific Cancer Genetics Program at UPMC Hillman Cancer Center. We also offer genetic counseling at UPMC Children’s Hospital of Pittsburgh. And we have a medical genetics and genomics program as part of our women’s health services.

Genetic questions can feel scary and overwhelming. Genetic counselors can help you feel empowered to make informed decisions about your health and your family.