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The information on this page was reviewed and approved by
Maurie Markman, MD, President, Medicine & Science at CTCA.

This page was updated on June 11, 2021.

Genetic counseling

Genetics can be a complex topic. Before and after genetic testing at Cancer Treatment Centers of America® (CTCA), you may choose to have a counseling session to help you navigate the science of genetics and what the test results may mean for you and your family. A person may consider genetic counseling if he or she:

  • Receives a cancer diagnosis at or before age 50
  • Is diagnosed with ovarian, fallopian or primary peritoneal cancer
  • Has multiple close family members with the same type of cancer or related cancers
  • Is diagnosed with two or more primary cancers Is diagnosed with triple-negative breast cancer at age 60 or younger

Participating in an introductory counseling session does not obligate you to have genetic testing. If you wish to pursue genetic counseling and testing once you leave the hospital, we offer telegenetics in most areas or are happy to see you at your next visit to our center.

Benefits and risks of genetic testing

Genetic testing poses psychological benefits and risks. A negative result can bring a sense of relief and reduce some of your worry and anxiety. It may also eliminate the need for more frequent checkups and tests that are routine in individuals with a high risk of cancer.

Cancer genetic counseling is a service provided by health care professionals with expertise in medical genetics and counseling. During a counseling session, genetic counselors will:

  • Evaluate your personal and family cancer histories
  • Assess your inherited cancer risk 
  • Simplify the concepts of genetics and hereditary cancer risks
  • Offer support to individuals and families at risk for cancer
  • Empower you to make informed choices
  • Address your questions and concerns

It’s important to remember that testing positive for a gene mutation does not necessarily meant that you will develop cancer. Some people with these results never get cancer.

Learn more about genetic testing

What is a genetic counselor?

Genetic counselors are health-care professionals who help patients determine whether they’re at risk for a genetic condition or disease, including cancer. They provide guidance on preventative health measures that may be taken in order to reduce cancer risk, including lifestyle changes and frequent cancer screenings.

Genetic testing is used for family planning or to screen for various conditions. For example, those planning to become pregnant may choose to be screened for inherited conditions they could pass down. Or a patient with a family history ofAlzheimer’s disease may be screened to check for that gene.

When it comes to cancer, genetic testing and counseling may be useful tools as well. Research has found a hereditary link to many cancer types, so people with certain inherited genetic mutations may be at increased risk of developing these cancers.

Genetic counseling for cancer may be recommended if the patient has:

  • More than one first-degree relative with cancer (parents, siblings or children)
  • Multiple relatives on one side of the family with the same type of cancer
  • Family members with breast, ovarian and pancreatic cancer, which are all linked to the same gene mutation
  • Relative with more than one kind of cancer
  • Relative who was diagnosed with a specific kind of cancer at a younger-than-normal age for that cancer type
  • Family member who has discovered a genetic mutation that increases cancer risk
  • Ethnic background that may play a role in some cancers
  • Physical symptoms that may indicate an inherited cancer

Genetic testing and working with a genetic counselor may provide many benefits. For those who haven’t inherited a harmful gene variant, this knowledge may provide peace of mind. Meanwhile, those who have an inherited genetic variant may gain the opportunity to manage and mitigate it. Still, genetic testing may be emotionally straining, so patients should be open and honest about any concerns before moving forward with testing.

What kind of training do genetic counselors have?

Although they aren’t doctors, genetic counselors may be a central part of a patient’s care team. Their credentials include a master’s degree in genetic counseling from a program accredited by the American Board of Genetic Counseling (ABGC).

With expansive training in medical genetics, these counselors are an important point of reference for patients interested in finding out about inherited genetic risks for themselves and their families. Genetic counselors are experienced in interpreting genetic testing results and are able to offer psychological and emotional support.

Areas of specialization may include:

  • Prenatal
  • Pediatric
  • Oncology
  • Ophthalmology
  • Psychiatry

What tests do genetic counselors do?

Genetic testing is a way to identify inherited changes passed down through genes, specifically harmful variants that may increase the risk of developing certain genetic diseases or conditions.

About 5 to 10 percent of all cancers are considered to be strongly linked to an inherited gene mutation, according to the American Cancer Society (ACS). Before genetic testing, a genetic counselor conducts a risk assessment using the patient’s personal and family medical history.

The patient’s reason for requesting genetic testing is reviewed, and the counselor checks for any patterns of cancer in the family. For some cancers, it’s important to consider a person’s lifestyle factors, cancer screening history and exposure to carcinogens in order to fully evaluate risk.

Ultimately, genetic counselors may provide unbiased information to help patients decide whether they want to get tested. Testing may be costly, so it’s recommended that patients check their health insurance coverage.

Predictive genetic testing

High-risk patients may undergo predictive genetic testing to look for genetic mutations linked to cancer. A genetic counselor may decide predictive testing is warranted if the patient has a:

  • Family history of certain types of cancer—for example, the BRCA1 and BRCA2 genes, which are both linked to an increased risk of breast cancer
  • Previous cancer diagnosis—and family history that suggests the existence of an inherited gene mutation
  • Relative with cancer who has a known inherited gene mutation

A patient who has already been diagnosed with cancer may undergo testing for genetic changes. These tests may help determine the person’s prognosis, as well as the course of treatment.

What to expect during your visit with a genetic counselor

A genetic counselor conducts a hereditary risk assessment, using the patient’s personal and family medical history to determine whether there’s an increased genetic risk of cancer. If the counselor decides genetic testing is warranted, and the patient agrees to testing, it’s important to discuss the process. While genetic testing may feel scary to some, the counselor is there to help the patient cope, so all concerns should be addressed before going through with testing.

The ACS recommends that patients carefully consider how the results of genetic testing will affect not just them, but their families as well. Informed consent must be given in writing prior to any testing, covering the following:

  • The purpose for and reason behind the proposed genetic testing
  • The type of inherited genetic mutation being tested for
  • The accuracy of the test
  • The positive and negative aspects of testing
  • Alternative testing options
  • Potential screenings or treatments that may be available in case of a positive result
  • Any decisions that may need to be made after testing results are received
  • Whether or not the patient consents to use of the results for research
  • Counseling and other services that are available
  • The patient’s right to refuse testing

After giving consent, specimens are taken from cells (usually from a hair or saliva sample, or a swab of cheek cells). For cancer testing, several vials of blood will likely be drawn from an arm vein to be tested in a laboratory.

What do test results mean?

Once testing is complete, the genetic counselor evaluates cancer risk and discusses the results with the patient.

The results may be:

  • Positive
  • Negative
  • Inconclusive
  • Variant of unknown or uncertain significance (VUS)
  • Benign

A positive result means a mutated gene is present that may elevate the risk of developing cancer.

In this case, the genetic counselor may discuss the best ways to manage that risk, including lifestyle changes (eating a healthy diet, staying active and not smoking). Regular screening tests are very important in detecting cancer early, and the counselor may encourage adhering to a recommended screening schedule. Sometimes, preventative surgery (the removal of a healthy organ or gland in order to prevent cancer from developing there—preventative mastectomies, for example) or chemoprevention medications may be suggested to reduce the risk.

A negative result means the patient doesn’t have the inherited gene mutation. Rarely, a “false negative” result may occur, in which the test results incorrectly indicate that the patient doesn’t have a gene mutation. A genetic counselor may determine that a patient is still at increased cancer risk, despite having received negative results, based on family history and other factors. More frequent cancer screenings may be recommended even with negative test results.

An inconclusive result means there’s not enough information to determine whether or not the patient has inherited gene mutations. In these instances, genetic testing of family members may help to paint a clearer picture.

In some cases, an unusual gene variation is present, but it’s unclear what the variant means. This is called a variant of unknown or uncertain significance (VUS), and while it may be a frustrating result, the counselor can help to explain what this result may mean. As more research is conducted in the future, doctors may learn new information about the specific VUS detected during testing (for instance, it may be later identified as a variant that causes increased risk of cancer), so patients with this result should check in with them regularly for updates.

A benign result means there’s a change in the patient’s DNA, but it’s thought to be a harmless change that doesn’t raise the risk of disease.

It’s important to remember that even with positive test results, there’s no guarantee if, or when, cancer may develop. According to the National Cancer Institute, even if a cancer susceptibility variant is present within a family, it doesn’t necessarily mean that everyone who has inherited the variant develops cancer.

A genetic counselor may discuss the patient’s outlook, options and concerns—as well as refer the patient to a health-care provider who has experience treating and diagnosing the specific cancer related to the inherited gene mutation.

Tips to prepare for your first genetic counseling meeting

The object of genetic testing is to better understand the risk for developing a certain disease. The aim is to help patients make informed decisions for the benefit of their future health, but genetic testing has limits. While testing may indicate a specific gene mutation, it cannot reveal what the future holds. Before testing, patients should think over what possible results may mean.

The following questions are helpful to consider beforehand:

  • How will I (and my family) be affected by the results of my testing? It’s important to consider how you’ll handle the outcome of your test, regardless of what it may be. Positive results may be upsetting, causing you to experience anxiety, fear or anger. However, knowing you’re at increased risk may be empowering, helping you make choices to live a healthier lifestyle.
  • Will my family members want to know about my results? This is an important question to ask yourself and your family members before testing. Not everyone wants to know if he or she is at greater risk of developing cancer, so be sensitive to each of your relative’s choices.
  • What follow-up tests might be necessary based on my test results? Depending on the type of testing you’re undergoing, additional medical tests may be needed. For example, if you’re being screened for breast cancer gene variants, you may need a mammogram or magnetic resonance imaging (MRI) exam as well. Ask your counselor about what extra testing may be indicated, as well as the risks and benefits of each.
  • Is genetic testing covered by my insurance? While this type of testing is often paid for by insurance, contact your insurance provider in advance to be sure. Genetic testing may cost upward of thousands of dollars.

How to find a genetic counselor

A doctor or insurance provider may provide information on genetic counselors in the area. Additionally, the following groups offer online resources:

Supportive resources

Your entire care team is available to address genetic testing. For instance, the mind-body therapy and pastoral care teams may help you cope psychologically with the results of genetic testing.

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