Finding out what may be hiding in your genes can be life changing.
From tailored treatments to helping families determine their risks for specific cancers, genetic testing has proven most beneficial. But there also are risks, such as added stress and anxiety and potential insurance backlash.
Leslie Ross, genetic counselor at UCHealth’s Cancer Center in Fort Collins, explains the usefulness of genetic testing and why it’s important to involve a genetic counselor or health professional with expertise and experience in genetic testing in the process from the beginning.
Schedule genetic counseling at UCHealth: Fort Collins: 970-493-6337 Greeley: 970-347-5780 Loveland: 970-237-7700 Aurora: 720-848-5944 Colorado Springs: 719-365-6845
“Genetic counselors help patients to make informed, personalized decisions about their genetic health,” Ross said. “We help identify potential genetic health risks, give information about genetic conditions and inheritance patterns, discuss testing options, interpret those results and provide support throughout the process.”
What is hereditary genetic testing?
Many qualities we have are hereditary. You may have gotten your blue eyes from your mother or your red hair from your grandfather. Traits that “run in the family” also include specific inherited changes, or mutations, in chromosomes, genes or proteins, and these mutations can have harmful, beneficial or unknown effects.
Genetic testing looks for these specific inherited mutations in a person’s genome that are harmful, which means that they are known to increase the risks for diseases, such as specific cancers. Overall, these mutations are responsible for 5 to 10 percent of all cancers.
Testing is done through a simple blood draw, and results are produced in about a month.
Do you need genetic testing?
Start by talking to your primary care doctor. Your physician should have a general idea of your family history and be able to determine if testing might be beneficial and relevant to your particular situation.
Your doctor will want to know if:
• Many relatives in your family have had cancer.
• Two or more of your relatives have had the same type of cancer.
• You and a relative have had the same type of cancer.
• You and/or a relative were/was diagnosed with cancer before age 50.
• You or a relative have/has had more than one type of cancer.
• You or a relative have/has had a rare cancer (e.g., breast cancer in a male).
If one or more of these situations applies to you or your immediate family, your doctor will most likely refer you to a genetic counselor. Physicians can order genetic testing, but the National Cancer Institute recommends that a genetic counselor, or another medical professional with expertise in genetics, be involved in the process from the beginning.
A counselor will further review your family history and help you to determine which genetic test would be most beneficial. Choosing the appropriate test is important. You don’t want to test on genes that are irrelevant to your family history because it’s very difficult to provide an accurate interpretation of those results. Determining if testing is the best choice for you psychologically also is very important in the decision. Certain questions must be asked before you decide. For example, if a risk were to be identified, would you be willing to do anything different, such as additional screening or surgery? If not, maybe finding out is not for you. On the other hand, many times risk results provide an incentive to take action, so it’s a conversation that’s very important to have with a genetic counselor.
For some people, the fear of knowing they have a higher risk for cancer causes them extreme anxiety. Your reaction to bad news needs to be considered in your decision.
And then there is the possibility that the test will show “uncertain” results, which means we don’t know if it causes an increased risk of cancer. Because of this, no action is recommended. We all have differences in our genes that make us unique and give us our individuality. These differences aren’t always associated with our health.
Some people struggle to accept that health professionals will not recommend any action for uncertain results. Knowing this could happen needs to be part of your decision.
There also is the risk of insurance discrimination if the test does determine high cancer risk. Although the Genetics Information Nondiscrimination Act and the Affordable Care Act offer some protection against this, the rules don’t apply to all insurance types, such as life insurance.
What are they testing for?
More than 50 hereditary cancer syndromes — caused by gene abnormalities/mutations — have been identified, according to the NCI. And there are now tests for most of those.
However, the most common tests look for risks of breast and ovarian cancer, and lynch (colorectal) cancer. In most cases, if a person has the hereditary qualification recommended for testing these cancer risks, insurance will cover the cost of genetic testing.
A test can be done for just one or two of these syndromes, but a full panel of testing also is available. A genetic counselor can explain each test and help you decide what information would be relevant.
What might my results tell me?
Overall, a genetic test will provide insight into your risks of getting certain types of cancer. For example, the mutated gene BRCA1 or BRCA2 is linked with breast cancer in women and men and also increases the risk of ovarian cancer.
Again, results may show an unknown mutation. This means that difference is there but research has not determined if it is linked to an increased risk of cancer, so no action is recommended.
Genetic testing results also may help doctors determine treatment plans for people with cancer. For example, if they have breast cancer and a mutated BRCA1 gene, doctors may choose a more aggressive treatment plan because of the increased risk for a new cancer later
After you and a genetic counselor review the test results, the counselor can provide recommendations to your primary care physician as to the next steps.
What happens after my test?
Your genetic counselor and primary care physician aid you in determining the best course of action. This may mean more screenings, as we don’t want people with an increased risk of cancer to be lost in the sea of average screening recommendations, or it may mean considering more serious options, such as surgery.
For example, the American College of Obstetrics states that women with the mutated BRCA1 or BRCA2 gene can reduce their chances of developing ovarian cancer by 80 to 90 percent by having their ovaries removed. If they do it before menopause, they reduce their risk of getting breast cancer by 50 to 60 percent.
A younger woman with the BRCA1 or BRCA2 mutation would be advised to take other steps, including seeing a doctor for breast exams yearly and adding breast MRI alternated with mammograms when she turns 25. And she could consider getting ultrasounds and pelvic exams once or twice annually until she is ready to have her ovaries removed.
A genetic counselor and/or your physician may also discuss the option of testing family members if your results presented known risks. Because these are hereditary traits, family members have an increased chance of having the gene mutation of their parent.
Testing also continues to develop, and technology continues to advance. It is worth discussing with your doctor or a genetic counselor about every five years the need to test, or even retest, based on new developments in any areas pertaining to your risks. However, second testing may not be covered by insurance.