Genetic Cancer Testing: What You Need to Know Including Significant Changes in Recommendations

Genetic Cancer Testing: What You Need to Know Including Significant Changes in Recommendations

Peggy Cottrell, MS, GCG, Cancer Genetic Counselor

What have you inherited from your mother other than her big brown eyes, curly hair, and petite frame?

Genetics is the field of science that looks at how traits like these, and others, are passed down from parents to children through their genes.

“Our genes can also affect what’s going on inside our bodies, such as whether we’re more likely to develop certain diseases, including cancer,” explained Peggy Cottrell, MS, CGC, cancer genetic counselor at Holy Name Medical Center in Teaneck.


Predicting Your Health

Genetic testing can help predict your chance of developing cancer by finding specific changes in your genes called mutations. These inherited mutations can lead to a greater chance of certain cancers, including breast, ovarian, colorectal, and prostate cancer.

“Only some people with an inherited gene mutation will actually develop cancer,” Peggy said. “For example, a woman may have a 45 to 65 percent chance of breast cancer, but she may never actually develop the disease. On the other hand, a woman with only a 25 percent chance may develop breast cancer.”

There are certain circumstances that can increase these odds, Peggy said. “A woman with a family history of prostate cancer has a higher chance of carrying a hereditary predisposition to breast cancer.”

Testing Guidelines

The National Comprehensive Cancer Network (NCCN), a non-profit research foundation, recently updated guidelines for genetic counseling and testing.

Recommendation Changes: Pancreatic and other Cancers

The NCCN recommends genetic counseling and testing for anyone with ovarian, pancreatic, or metastatic prostate/prostate cancer or a patient diagnosed with breast cancer under age 45. Patients diagnosed with colon or endometrial cancer under age 50, or a combination of these cancers also qualify. For example, a woman with breast cancer over age 45 may qualify for genetic testing if she also has a family history of breast, ovarian, prostate, or pancreatic cancer.

Studies show that individuals with pancreatic cancer and no family history of cancer have more than a 5 percent chance of carrying a hereditary mutation that may predispose them to other cancers.

“You might think it unusual that we recommend genetic testing for a person who has already been diagnosed with cancer, but it can provide more information on the patient’s prognosis as well as help determine what types of treatment might work well,” Peggy explained. Genetic testing can also help predict the potential recurrence of a cancer, as well as the possibility of new cancers. The results can also help patients’ immediate families make informed decisions about their own genetic testing.

Recommendation Changes: Prostate Cancer

As for prostate cancer, the new guidelines now recommend genetic testing for all men with metastatic prostate cancer. In addition, men with high-grade prostate cancer (Gleason 7 score or higher) who have an additional family member with breast, ovarian, pancreatic, or colon cancer should also undergo testing.

The Test

“Testing is easy, typically done with a small sample of blood, or sometimes saliva, which is then sent to a lab that specializes in genetic testing,” Peggy said. In addition, patients provide a detailed, personal and family medical history.

Ideally, results should be returned to a genetic counselor who can help you better understand your true cancer risk and empower you to make appropriate healthcare choices.

Looking for Patterns

These healthcare choices may be determined by patterns of cancer the genetic testing found. Typical patterns include the combination of inherited colon and uterine cancer or, as mentioned earlier, breast and ovarian cancers. Sometimes even with a negative result, we may recommend a change in medical management.

Three-Prong Approach

“Based on these results, we can choose from a three-prong response,” Peggy said.

  • Better screening such as a breast MRI or having a colonoscopy annually vs. once every five years
  • Medication to reduce the patient’s risk of cancer, which may include prescribing a drug that targets the specific genetic mutation
  • Surgery, such as removal of the ovaries if a woman has a predisposition to inherited ovarian cancer

Find Out More

While no one can predict exactly who will develop cancer, we encourage you to speak to your doctor about meeting with a genetic counselor if you have concerns about inherited cancers.

Holy Name Medical Center is in partnership with Sharsheret to assist you with all aspects of genetic cancer testing. To make an appointment to speak one-to-one with a certified genetic counselor, please visit our websites: