The Importance of Genetic Testing

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Today, we want to give you an in-depth look at what exactly genetic testing entails. We’ll go over who is best suited for genetic testing, as well as its ramifications on breast cancer treatment. If genetic testing is something you’ve been considering for a while, then this article is definitely for you. Likewise, if genetic testing is simply something you’d like to be better informed about, read on!

What is Genetic Testing?

Genetic testing began in the 1950s when scientists discovered a replication of chromosome 21 causes Down’s syndrome. The staining of chromosomes, referred to as karyotyping, allowed scientists to count the number of chromosomes present in DNA. Since then, advancements have afforded scientists the ability to isolate individual chromosomes and identify structural mutations. Various mutations in genes can expose us to increased risk for certain diseases, illnesses, and cancers. Often, these genetic mutations are inherited. Genetic testing offers individuals the option to be aware of which illnesses they are genetically predisposed to developing, as well as alter their lifestyles in order to decrease their risk of developing these illnesses. 

Known Harmful Genetic Mutations

The most significantly harmful genetic mutations which increase the likelihood of developing breast cancer are the BRCA1 and BRCA2 genes. The capability to test for these specific genes was only acquired as recently as 1996. Individuals, both men and women, who carry one or both of these genetic mutations are determined to have Hereditary Breast and Ovarian Cancer Syndrome (HBOC). This syndrome increases women’s risk of developing breast, ovarian, pancreatic, and other forms of cancer. Similarly, this syndrome increases men’s chances of developing breast, prostate, pancreatic, and other forms of cancer. 

The BRCA genetic mutations are not the only genetic mutations which can increase an individual’s likelihood of developing breast cancer. The other genes which can harbor harmful mutations are the PALB2, CHEK2, ATM, PTEN, and TP53 genes. Not all genetic tests check for inherited mutations associated with these genes. If a family member of yours has a genetic mutation associated with one of these genes, you should discuss being tested for these mutations with your genetic counselor. 

According to research, an estimated five to ten percent of breast cancers are the result of an inherited genetic mutation. Further, between fifty-five and seventy-two percent of females with the harmful BRCA1 mutation variation, and forty-five to sixty-nine percent of females with the harmful BRCA2 mutation variation, are likely to develop breast cancer before the age of eighty. These staggering statistics provide a strong basis for early genetic testing, especially for those with a family history of multiple cancers. 

Who Should Be Tested

It is not recommended that everyone be tested for genetic mutations associated with breast cancer. If you or a close family member were diagnosed with breast cancer at a young age, or triple negative breast cancer (which tests negative for estrogen receptors, progesterone receptors, and excess HER2 protein), then you should be tested. The number of family members diagnosed with breast cancer, the age they were when they were diagnosed, and how close they are in relation to you, all affect your chances of having a harmful genetic mutation. If you have a family member who has tested positive for one of the harmful BRCA mutations, then you should be tested. If you are of Ashkenazi Jewish descent or have been diagnosed with breast cancer a second time (not a recurrence of the first cancer), then you might be more likely to have a harmful genetic mutation. 

The Process of Genetic Testing

To begin with, you should consult a genetic counselor or genetic specialist. This professional will be able to, using your family history, estimate your risk for certain genetic mutations. They will be able to put together a panel of genes to test for and answer any questions you may have about the potential results. Testing can target a specific mutation or a range of different mutations, depending on your situation. Once you’ve determined which genetic mutations to test for, a medical professional will collect a sample of your blood or saliva (by cheek swab). This sample will then be sent off to a lab to be reviewed. 

You can expect your results to be returned within two to four weeks, allotting extra time for more extensive testing panels. When analyzing the reported results of your genetic testing, you may be confused by the answer. You can receive a positive result, which means you do indeed have a harmful genetic mutation and there are steps which you can subsequently take to decrease your risk of developing breast cancers (and other cancers). You can receive a negative result, however this doesn’t necessarily ensure you do not have a harmful genetic mutation. There is a chance you were not tested for the full range of genetic mutations and a harmful genetic mutation predisposing you to breast cancer has been missed. In this case, further testing would be required. You can also receive an inconclusive result, which means the tests were not able to determine whether you do or do not have harmful genetic mutations. Finally, you can receive a positive for a variant of unknown significance (VOS) result, which means you’ve tested positive for a genetic mutation which science hasn’t yet connected to an increased or decreased risk. 

There is still much work to be done in genetic testing research. For this reason, you must take any results from genetic testing with a grain of salt. Genetic testing is, on the whole, incredibly accurate. Still, you’ll want to have your results interpreted and explained by a genetic counselor who can give you a plan for the immediate future regardless of your results. 

There are at-home genetic testing kits available and approved by the FDA. However, these kits usually only test for a handful of the BRCA mutations, and not the over one-thousand variations which exist. Therefore, they cannot provide much by way of comfort or relief, even with a negative result. 

Impact on Treatment

If you have been diagnosed with breast cancer, or diagnosed with breast cancer for a second time, undergoing genetic testing and being determined positive for a harmful genetic mutation can affect your treatment plan. According to research comparing breast cancer patients who tested positive for BRCA mutations and breast cancer patients who tested negative for BRCA mutations, BRCA-positive patients underwent double-mastectomy surgeries much more often than BRCA-negative patients (66% > 24%). Conversely, BRCA-positive patients were less likely to undergo radiation treatment than patients who tested negative for BRCA (51% < 82%). Finally, BRCA-positive patients underwent chemotherapy at a slightly higher rate than BRCA-negative patients (38% > 30%). This data suggests breast cancer patients who tested positive for the BRCA mutation and their physicians are more aggressive in preventative measures such as mastectomies and treatments such as chemotherapy, but less aggressive in treatment measures such as radiation (perhaps because patients are planning to undergo mastectomies in the future or fear the effects of radiation). As well, BRCA-positive patients having an increased likelihood of developing breast cancer multiple times may explain the vastly higher rate of double-mastectomy. 

Positive and Negative Considerations

Even if you have not currently been diagnosed with breast cancer, being aware of the presence of a harmful genetic mutation can affect how you live and thus affect your chances of developing cancer later in life. If you do test positive for harmful genetic mutation, you can make lifestyle changes such as being more physically active and lessening your alcohol consumption. You could also opt for preventative surgery, such as a double-mastectomy, or chemoprevention medication to lessen your risk. 

If the results of your genetic testing are negative, this can be a great relief to many. Of course, a negative result doesn’t erase the possibility of developing breast cancer, but it can be comforting to know you aren’t any more likely than someone else. 

On the other hand, some individuals aren’t adequately equipped to handle the mental and emotional stress of a positive result. If this is the case, you might opt out of genetic testing or seek professional help with coping with your results, whatever they might entail. 

Genetic testing can be expensive, ranging from three-hundred to five thousand dollars depending on the facility you choose. There are insurance providers who will cover the cost if the testing is medically necessary. Check with your insurance provider and verify their guidelines before ordering tests. 

If you fall under the scope of individuals who should be tested for genetic mutations—the sooner you seek answers, the better. We offer genetic testing and family history evaluations here at The Breast Place. You’ll meet with one of our qualified, highly-trained medical professionals to determine your inherent risk and be tested for a panel of harmful genetic mutations. Take your future into your own hands and schedule a consultation today. We’ll assist you with determining the best course of action following your test results. The Breast Place also offers several breast imaging services, including: mammograms, ultrasounds, and MRIs. We’re here to help!