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Assessing Your Cancer Risk with Genetic Testing

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Genetic testing – looking back

The first genetic test for cancer became available in 1996. That test, the BRCA 1/2 test, looked for mutations in the two genes most commonly affected in hereditary breast and ovarian cancer — the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes. Since then, many more cancer genes have been identified, and tests developed to look for mutations.

“I have been doing genetic testing since 2006, and back then it was only two genes and it was only for breast cancer,” says Yvonne Ruddy-Stein, APRN. “That’s not the case anymore. Now we know that there are at least 23 more genes that influence the risk of breast cancer, even if you don’t have BRCA1 and 2.”

Dr. Beth Sieling agrees. “When I arrived to start my first job in Waterbury, there was no genetic counseling here,” says the breast surgeon. “I realized that had to change, and we started counseling.”

People who had genetic testing done years ago may be able to benefit from the more comprehensive screening panels now available. Today, a typical genetic testing panel includes screening for mutations in 77 different genes that have been linked to a higher cancer risk.

Understanding your hereditary cancer risk

To help patients better understand their family medical history and their personal risk of being diagnosed with a hereditary type of cancer, Trinity Health Of New England Oncology Center’s genetic counseling program at HLRCC offers comprehensive genetic screening and support.

“Genetic testing is looking for a genetic predisposition to cancer,” says Yvonne. “If you have inherited a mutation, that gives you a higher risk for developing cancer in your lifetime.”

Genetic counseling and testing is also conducted at local breast centers. Dr. Elizabeth Riordan says, “We perform breast cancer risk assessments on a majority of the patients that we see. I cannot overemphasize the importance of knowing one’s family medical history, especially when it comes to cancer incidence; this information may be vital in accurately calculating a patient’s future breast cancer risk and in making appropriate referrals for genetic testing.”

What is genetic testing?

Genetic testing actually involves three steps: genetic counseling, genetic testing, and post-test counseling. With genetic counseling, the individual’s personal and family history is thoroughly reviewed to determine if genetic testing is recommended and which specific genetic mutations may have been inherited.

“We’re looking for certain red flags, like family members who have been diagnosed with cancer or people with multiple cases of cancer in the family,” says Ruddy-Stein. “Not everybody who has those red-flag characteristics will test positive, and somebody who doesn’t have any of those characteristics might test positive. Those characteristics are just guidelines, but they do help us determine the right testing and management plan.”

If, after reviewing family history, both the patient and the provider agree to move forward with testing, blood is drawn and the sample is sent to the appropriate testing facility, which detects mutations in the genetic code. Once the test results are available, a second counseling session is conducted, either on the phone, by video, or in person, to discuss the results.

Dr. Sieling stresses the importance of genetics for all providers. “It is important for healthcare providers to incorporate genetics into their patient care plans, as it can significantly impact treatment decisions and ultimately improve patient outcomes. As the field of genetics continues to advance, we can expect to see more personalized patient care.”

For more information, see Genetic Testing FAQs and talk to your healthcare provider to see if you might be a good candidate for genetic testing.