GENETIC COUNSELING

Who needs genetic counseling:

• Those with a personal history or family history suggestive of a hereditary cancer syndrome.
• Had a previous genetic test 3-5+ years ago, but you may want to consider additional testing.
• Multiple family members with the same type of or related cancers.
• Rare cancers
• Ashkenazi Jewish history.

Benefits of genetic counseling:

• Genetic screening can help calculate the likelihood of a fetus being born with a certain disorder.
• Provides peace of mind or information for better understanding and decision-making.
• Appropriate testing will be given.
• Decision making will be made based on scientific information.

Heredity risk for uterine cancer is about 5 percent. Surgery is the primary treatment for endometrial (uterine) cancer. 

Genetic testing may be appropriate for ovarian cancer:

• You’ve had or been diagnosed with ovarian cancer.
• You’ve had at least two types of other cancers.
• You’re related to someone with BRCA1 or BRCA2 mutation.
• You have Lynch syndrome. Women with this inherited condition have a 9% to 12% chance of getting ovarian cancer in their lifetime.
• You have at least one relative who’s had cancer and meets the criteria for this type of genetic testing.
• You had a negative genetic test more than 3 years ago. Testing technology is always improving.

Two main genetic factors increase the risk of cervical cancer:

• Peutz-Jegher syndrome (PJS): People with PJS have a higher risk for a rare type of cervical cancer and ovarian tumors. PJS is caused by a genetic change in the STK11 People with PJS have a higher risk for breast, colon, pancreatic, and lung cancers than they do for cervical or ovarian cancer. Most people with PJS have a personal or family history of these other types of cancers.
• Damaged DICER1 gene: People with a damaged DICER1 gene have a higher risk for a rare type of cervical cancer called embryonal rhabdomyosarcoma. They also have a higher risk for ovarian sex cord-stromal tumors. (https://healthcare.utah.edu/huntsmancancerinstitute/news/2021/01/does-cervical-cancer-run-in-families.php#:~:text=Right%20now%2C%20we%20do%20not,cervical%20cancer%20are%20not%20genetic.

Other gynecologic cancers:

• Ovarian/fallopian tube/primary peritoneal cancer: This is the most common type of ovarian cancer is called epithelial. 20 in 100 epithelial ovarian cancers are hereditary. People with a change in genes like BRCA1 or BRCA2 have an increased risk for these cancers. Genetic testing is recommended for people with these diagnoses.
• Endometrial cancer: The endometrium is the lining of the uterus. 5 in 100 endometrial cancers are hereditary. Lynch syndrome is one genetic condition that increases risk for endometrial, ovarian, colon, stomach, and other cancers. HCI as part of the surgery process.(https://healthcare.utah.edu/huntsmancancerinstitute/news/2021/01/does-cervical-cancer-run-in-families.php#:~:text=Right%20now%2C%20we%20do%20not,cervical%20cancer%20are%20not%20genetic.)

Genetic test results aren’t always clear-cut. If your test result is negative, you might not be scanned for the mutation. But you could still have another type of genetic change that hasn’t been linked to ovarian cancer yet. A “variant of uncertain significance” result means the lab found a mutation that may or may not be linked to ovarian cancer.

A negative test doesn’t have to be the end of your genetic testing. As with an uncertain result, check with your doctor or genetic counselor to see if there are other options.

Find a Genetics Specialist

There are various ways to access genetic counseling services, including in person, by phone, and by video conference.

Find a genetic counselorexternal icon using the National Society of Genetic Counselors directory.

I welcome your feedback, questions, and comments. Thank you for taking the time out of your busy schedule to read this blog.