By Krystal Redman (KR), DrPH, MHA (they/she)
The on-going debate around genetic testing is undeniable. The question is, is genetic testing causing more harm than good? And, does genetic testing truly work toward addressing and ending breast cancer?
It is inevitable that the more you test genes the more risk genes you will find. So, will increased emphasis on testing genes lead to unnecessary fear, stress, and overtreatment? Genetic testing identifies “risk” genes but this does not necessarily mean that you or anyone who has a breast cancer risk gene will ever be diagnosed with breast cancer.
We have named this before: widespread genetic testing can lead to overtreatment, including unnecessary mastectomies (removal of the breasts) or even oophorectomies, (removal of the ovaries), without clear indication to do so.
Genetic testing for mutations in the BRCA1 and BRCA2 genes are usually offered to people at an increased risk of carrying a risk gene based on their personal and/or family history of breast cancer. [This is assuming that the patient has equitable access to healthcare coverage and comprehensive care that will provide an opportunity to 1) gain access to a provider to offer the test and 2) cover genetic testing and other associated costs]. The BRCA gene test is a blood test that uses DNA analysis to identify negative changes (known as mutations) in either one of the two breast cancer susceptibility genes — BRCA1 and BRCA2. People who inherit mutations in these genes have a dramatically increased risk of developing breast cancer.
There’s much gray area in genetic testing, as the results are not always clear, and are not direct indicators that you will ever get breast cancer. Essentially, a positive result means you carry a gene mutation that increases your risk of breast cancer. Whereas a negative result can mean that you don’t have the mutation or that you have a gene variant that doctors are not aware of. Just like a positive test does not mean you will get breast cancer, a negative test does not mean that you won’t get breast cancer or any other cancer in your lifetime.
Breast Cancer Action has always encouraged those who are concerned about their hereditary risk to seek independent genetic counseling to further assess the options available. For more information please refer to our Toolkit to Navigate Breast Cancer.
Testing may cause unintended emotional harm to those who undergo the tests. Doctors advise that if you test positive for a gene mutation, you can work with their doctors to “manage that risk.” This puts pressure on the patient, and can cause anxiety around monitoring a disease that the patient has not been diagnosed with. This can result in making a fear-based medical decision to prevent the cancer from occuring, which in turn can potentially result in more harm than good. Genetic testing may have a heavy impact on psychological health, a patient’s decisions regarding cancer risk management, decisions around work, life, family planning/fertility and also may affect the patient’s family/loved ones. Patients should have access to a full range of psychosocial supportive services and additional resources, if they choose to participate in genetic testing. At no cost to the patient, patients should be able to receive comprehensive emotional support not just prior and directly after their genetic testing, but for as long as the patient determines they need it.
The breast cancer gene “guidelines” from the National Comprehensive Cancer Network (NCCN) states that MRIs should start at 25 years of age, and mammograms should begin at 30 years of age with higher risk genes. We at BCAction encourage you to do your own research to make an informed decision about what treatment plan (even if the plan is against the “guidelines”) is best for you. It is your body, your life, your choice!
In attending the Refinings Heredity Risk session during this year’s San Antonio Breast Cancer Symposium (SABCS), it was noted that researchers do not see evidence of a difference in survival rates between those who obtained MRIs and those who opted for risk-reducing mastectomy, a surgery that comes with a myriad of other complications.
Further, low dose Tamoxifen, a drug often used to prevent breast cancer in patients who are considered high risk, showed no evidence of reducing breast cancer mortality rates. During this session, the moderator Dr. Olufunmilayo Falusi Olopade asked the panelist and attendees, “due to the fact that there is very little reduction in mortality with risk reduction surgeries, perhaps we are at the rise of an era of deescalation of risk reduction treatment and surgeries?”
I would go further and also add to this question, “…And, isn’t it time for us to begin to equally invest in research and strategies that aim to address the systemic and environmental root causes of breast cancer?” Identifying risk genes and providing the patient with this information, then encouraging them to consult with their doctor to identify risk reduction techniques and disease prevention strategies and behaviors essentially places the responsibility back on the patient. This puts the onus of reducing risk of breast cancer on an individual level, and assumes if we change our “risk behavior” then we can reduce the risk of getting breast cancer. We cannot change our genes, so trying to counter increasing breast cancer rates by changing behavior cannot be the solution to addressing and ending this crisis.
Even though Black women have the same gene scores of white women, both groups show different outcomes in being diagnosed with breast cancer due to environmental racism, socioeconomic inequities, and systemic factors that do not have anything to do with risk genes. Black women have a 40% higher death rate from breast cancer Among women under 50, the disparity is even greater. The mortality rate among young Black women is double that of young white women. Further, the incidents of breast cancer in Black women–is disproportionately more than in white women.
Identifying risk genes does not mean you will get breast cancer. But, we have seen how systemic injustices and health inequities will lead to breast cancer (and other cancers) in BIPOC communities. It is clear that we must address the true risks of breast cancer, which include health inequities that disproportionately affect those with the furthest relationships with power, and reside deep within the margins.
This is why we as a collective breast cancer movement, including researchers, public health professionals, doctors/clinicians, advocates and the rest of the breast cancer community, must focus more of our resources and efforts on systemic solutions that will get to the root causes of breast cancer to address and end this disease for good.