Hereditary Cancer Syndromes and Genetic Testing Options

During the pre-test counseling session the genetic counselor will briefly review hereditary cancer syndromes. Hereditary cancer syndromes are conditions in which we see many family members diagnosed with cancer, younger ages of onset, and multiple types of cancer within one family. Members of these types of families have a hereditary risk of developing cancer due to a gene mutation that is passed from generation to generation. Genetic testing can aid in determining if an individual has a hereditary cancer syndrome and who else in the family may be at risk. Most hereditary cancer syndromes have specific guidelines and recommendations for management of those who are affected.

Two hereditary cancer syndromes that are often discussed include the following:

  • Hereditary Breast and Ovarian Cancer syndrome (HBOC)
    • This condition is caused by a mutation in the BRCA1 or BRCA2 gene
    • This condition causes an increased risk for breast, ovarian, prostate, pancreatic, and skin cancer
  • Lynch syndrome
    • This condition is caused by a mutation in one of five genes: MSH2, MLH1, MSH6, PMS2, or EPCAM
    • This condition causes an increased risk for colorectal, uterine, ovarian, stomach, small intestine, brain, ureter and kidney, and biliary tract cancers

Genetic testing is available for individuals who meet criteria based on their personal and family histories. A genetic counselor can help identify what conditions you or your family may be at risk for, if you or another family member meets criteria to undergo genetic testing, help discuss/thoroughly explain options for genetic testing, what results may come back, and coordinate a plan for proceeding. Often families have cancer histories that overlap with one or several hereditary cancer syndromes. Genetic counselors can help determine which options may be most appropriate for you and your family. Two genetic testing options that are often discussed include the following:

  • Testing only the genes associated with a specific cancer syndrome
    • Example: If HBOC is suspected, only test BRCA1 and BRCA2 genes
    • Example: If Lynch is suspected, only test Lynch syndrome genes
  • Panel testing
    • If an individual has a personal and family history that could indicate several possible hereditary cancer syndromes, a panel may be an appropriate option
    • Panels often include more genes ranging from about 5 to 50 genes. These panels are able to look at genes associated with many hereditary cancer syndromes and often include genes that we are still learning information about
    • Some genes included on panels do not have much information regarding associated cancer risks or management recommendations
  • Genetic counselors will help discuss results and implications of testing

What to Expect at the Genetic Counseling Session

Your doctor might refer you to see a cancer genetic counselor if:

  • You have a personal history of cancer
  • You have a family history of cancer

A cancer genetic counselor is a health care professional who specializes in genetics and helping patients understand their risks for cancer and arrange testing for them.

How to Prepare for a Genetic Counseling Appointment:

  • Think about your family members’ health, and whether they have had cancer or chronic illnesses in their lives.
  • If you aren’t sure about your family’s health history, ask your family members to talk about their health history.
    • If they had cancer, how old were they when they had it? What kind of cancer was it? What kind of treatment did they receive?
  • Make sure to bring any health insurance information (card) you might have.
    • If you do not have health insurance, bring a 1040 tax form if you have one. If you do not, that is okay, too.

Genetic Counseling often includes two visits. The first visit is called a “pre-test counseling session”. The second, if you have genetic testing, is called a “post-test counseling session”.

What to Expect at the Pre-Test Genetic Counseling Appointment

  • Together, we will review your personal and family health history.
  • You will learn about hereditary cancer syndromes, and how the risk for getting cancer can be passed down in families.
  • If genetic testing is determined to be helpful for you, we will discuss what a genetic test result can tell you.
  • If genetic testing would be helpful, and you want to have genetic testing, we arrange for the blood test. Often that happens the same day of the pre-test session.
  • We will schedule a post-test appointment for ~4 weeks later.
  • If genetic testing would not be helpful for you, you do not have a second “post-test counseling session”, but you may still make an appointment to be seen at the clinic.

What to Expect at a Post-Test Genetic Counseling Appointment

  • You will receive your genetic test result.
  • We will discuss what your test result means for both you and for your family members.
  • We will discuss if changes to your health care might be necessary.
  • You will receive resources including information on your test result, available support (groups), and referrals to other doctors if necessary.