The recent news regarding Chris Evert’s ovarian cancer diagnosis was shocking for the many fans of her career as an elite-level athlete. Genetic testing led to the detection of this cancer, and Evert’s bravery in sharing her story offers a platform to create awareness for other families to explore the importance of examining their own family history of cancer.
Evert learned of her cancer diagnosis last month as she was undergoing a preventative hysterectomy with removal of ovaries and fallopian tubes. She shared that this procedure was scheduled after genetic tests found that she was at risk for ovarian cancer due to a BRCA1 mutation. Evert’s sister died from ovarian cancer in 2020. Her sister’s diagnosis is what prompted the Evert family to pursue genetic testing. Reports indicate that her sister initially did not have an actionable test result that would have been useful for her family members. However, advancements in genetic testing and in the understanding of her sister’s test result later confirmed an important gene variant for ovarian cancer, which allowed Evert to consider risk reduction.
As you read this story in the news, you may be wondering how you can apply the information to your own health and find out if you, or your family, are at risk for developing cancer. If you pursued genetic testing in the past, this may also prompt you to consider whether you need to get tested again now that technology has significantly evolved over the last few years. As a genetic counselor specializing in cancer who helps patients navigate testing and breaks down how test results can guide patients’ surveillance (monitoring of their health), here are some key factors to keep in mind when trying to understand how to move forward and explore your own risk.
How do I know if I should get tested?
One of the most frequent questions I get is whether or not genetic testing would be appropriate for a given family. All women with ovarian cancer, fallopian tube cancer or primary peritoneal carcinoma are candidates to pursue genetic testing, regardless of their age at the time of diagnosis or their family history. Approximately 25% of these women will have an underlying inherited risk factor that could be used to guide their treatment decisions. Testing can also offer an opportunity for their relatives to pursue extra surveillance in hopes of detecting cancer at an early stage, or possibly preventing a cancer.
Genetic testing is also recommended for all individuals with pancreatic cancer, metastatic breast cancer, triple negative breast cancer, male breast cancer or metastatic prostate cancer, regardless of their age at diagnosis or their family history. The table below highlights some common genetic testing criteria.
|Three or more of the same cancers in one branch of the family or cancers that occur in a pattern (breast, ovarian, prostate, pancreatic, colon, uterine)
|Early age of onset (50 years or under for breast, colon, uterine)
|Triple negative breast cancer at any age
|Ovarian cancer, fallopian tube, primary peritoneal cancer
|More than one primary cancer diagnosis in the same person
|Metastatic breast cancer
|Male breast cancer
|Metastatic prostate cancer
Do I need to look at disease history on both sides of my family?
It is important to look at the cancer history on both sides of your family. Emphasis is often placed on the maternal branch (mother’s side) of the family when considering “female-related” cancers such as breast, ovarian, uterine and fallopian tube cancers. However, half of families with an inherited risk factor had that risk factor come from the paternal branch (father’s side) of the family. Include the men in your family in conversations about your family’s history of cancer and genetic testing results, as men also have an increased chance of developing cancer with the “breast cancer” genes. Since men with a BRCA gene mutation may have an increased chance of developing breast and/or prostate cancer, they may use the results of the test to determine the age that they should start surveillance and how often to pursue it. They may also have a daughter or granddaughter who would benefit from the information.
I had genetic testing a long time ago. Do I need to do it again?
We used to think that testing only needed to be completed once over a lifetime, but that is no longer true. Testing again can have value as the technology has changed over time and may identify mutations that were missed on prior tests due to technological limitations. In addition, new genes could be identified that may be useful to consider. A genetic counselor can review your prior test results to determine if there are updates that would be beneficial to consider, either due to new technology or additional knowledge about relevant genes that were not previously evaluated.
Can the interpretation of test results change over time?
Yes. It is possible that an initial test was negative due to limitations of the technology, or that the relevant gene was not included on the test at the time you were tested. For example, a test of the BRCA1 or BRCA2 genes may have been negative in 2005; however, the newer testing technology could potentially identify a mutation in the same genes today. In this case both test results accurately reflected what the technology could and could not find at the time. Other times, the initial test was negative because a different gene was involved, one that was not included on the prior test, but is included on the newer test.
When should I consider updating my genetic test?
Now that genetic test results can be used to tailor treatment decisions, as well as tailor surveillance and risk reduction options for individuals and their relatives, it is important to know when to get genetic testing done. It would be reasonable to contact a genetic counselor if:
- There is a change in your personal or family history, meaning a new cancer was diagnosed
- Doctors are looking for information to aid in treatment decisions
- A number of years have passed since your last genetic testing. A genetic counselor can help you determine if your prior testing is still current, if there have been enough changes in the technology that would make it worth pursuing updated testing, or if it would be reasonable to evaluate the newer genes based on the data in comparison to your family history
As people move through different life phases and approach the ages at which relatives developed cancer, the decision to pursue genetic testing may take on greater importance.
Over the past 25 years, genetic testing has advanced rapidly, and it is now engrained into routine oncology care. Not all tests, however, are equal in quality, despite having similar genes listed on the test result or having similar names. It is important to work with a genetic counselor to ensure the test you select is the most appropriate one for you and your family.
Genetic counselors are a useful resource to stay current on testing technology and to understand how test result data may be used to guide discussions with your health care providers. As the recent news about Chris Evert shows, pursuing renewed genetic testing can be an important step in early detection of potential health issues. If you have tested in the past or wonder if you would be a candidate to pursue testing now, you can locate a genetic counselor at findageneticcounselor.org.
Joy Larsen Haidle, MS, LGC is a past-president of the National Society of Genetic Counselors and a genetic counselor at the North Memorial Health Cancer Center in Minneapolis.
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