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Living Well

Genetic Counseling Helps Patients Understand Risk

Last updated: Jul 25, 2016

If one of your parents or another relative develops cancer, are you at extra risk of getting the same kind of cancer? That’s what people come to Summit Medical Group’s Genetic Counseling Center to find out.

While most cancers are not inherited, genetics is thought to play a role in 5 to 10 percent of cases, according to the National Cancer Institute.

“The first thing we do is a family tree,” says longtime SMG Genetic Counselor Niecee Singer Schonberger, MS, GCC, adding that cancer on both the mother’s and father’s sides are part of the discussion. “It’s just as important on the father’s side as the mother’s side.”

When possible, it’s most helpful to have the family member who has the cancer get tested first to determine if that person has a gene with the problematic mutations, Schonberger says.

Signs of a Hereditary Link

A strong family history of a specific cancer is the basis for genetic testing. These are some factors that may lead Schonberger to recommend the tests:

  • An individual or a close relative diagnosed with the cancer at a young age
  • Multiple family members (on the same side of the family) with the same or related cancers
  • A male member of the family with breast cancer

If only one member of the family has had the cancer, and developed it at an older age, testing is probably not needed, Schonberger says.  

Ethnic heritage can also play a role. “If the family is of Ashkenazi Jewish heritage, counseling is a little different,” Schonberger explains. People descended from Ashkenazi, or Eastern European, Jews have such an added risk of breast cancer that genetic testing will be recommended even if just one older member of the family has breast or ovarian cancer.

What Genetic Testing Involves

After a thorough discussion of family history, Schonberger talks about options for genetic testing and the benefits and limitations of testing.

Genetic testing looks for specific genes that have mutated, or changed. “Some genes are associated with inherited breast and ovarian cancer, some with inherited colon cancer, some with inherited pancreatic cancer, so depending upon what gene mutation has been identified in the family, we would then talk about management options,” she explains. “Also, the other part of the result is the family, because if an individual is found to have a mutation in a gene, then his or her children each have a 50/50 chance of also having that mutation.”

Testing options have increased rapidly in recent years, Schonberger points out. “Up until the last couple of years, the only testing options were the two BRCA [breast cancer] genes that most people knew about. Now, we have many, many genes—multiple genes that are available in a panel of, say, 13, 25, 32 or more genes that can be tested for their ‘associated with’ inherited cancers.”

The testing is usually done with a blood sample, but a swab of saliva is sometimes used. Results are usually available in about three weeks.

Colon, Uterine, and Pancreatic Cancer Links Tested

While the inherited nature of breast and ovarian cancer has been well publicized, Schonberger has noticed a growing interest in investigating genetic connections for other conditions. “I’m seeing more and more people interested in testing for colon cancer, uterine cancer, and pancreatic cancer.”

Knowing of an added risk can help people be on the lookout for cancer in its earliest stages, Schonberger explains. A person with an added risk of colon cancer, for instance, would probably be advised to have colonoscopies more often than average, so polyps could be removed before they turn cancerous.

Weighing the Results

A genetic counselor’s work doesn’t end with the results of the test.

“I always tell my patients that I don’t give results over the phone. Even if it’s negative, there’s something to talk about.” The patient is provided with a copy of the results, and Schonberger works with the patient to develop a plan if the test is positive.

“I like helping people. I find people are grateful for the information. They’re glad they found out so they can do something to protect themselves.”

References

  1. Interview with SMG Genetic Counselor Niecee Singer Schonberger, MS, GCC, July 15, 2016.
  2. Genetic Testing for Hereditary Cancer Syndromes. National Cancer Institute. Reviewed April 11, 2013. www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet#q2
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