Genetic Testing and Breast Cancer: What Is Important To Know
Breast cancer is a significant concern for women around the world. While there are many factors that contribute to breast cancer risk, one factor that has gained attention in recent years is genetics (genes that have been passed from parents to child). Understanding your genetic predisposition to breast cancer can empower you to make informed decisions about your health. Let’s explore what women at an increased risk for breast cancer need to know about genetic testing.
The Basics of Genetic Testing
Genetic testing, also known as DNA testing, is a medical test that examines your DNA, the genetic material that makes you unique. This testing can reveal if you carry certain gene mutations that increase your risk of developing breast cancer. Two well-known genes associated with an increased breast cancer risk are BRCA1 and BRCA2, however there are many other genes that can also increase your risk.
Who Should Consider Genetic Testing?
Not everyone needs genetic testing for breast cancer risk. It is typically recommended for individuals who have a strong family history of breast, ovarian, or other types of cancer, and especially if the cancers occurred at a young age or in multiple family members. Other factors that may indicate a need for testing include being of Ashkenazi Jewish heritage or having a personal history of breast cancer.
Understanding BRCA Gene Mutations
BRCA1 and BRCA2 are genes that produce proteins that help repair damaged DNA in our cells. Mutations in these genes can interfere with this repair process, increasing the likelihood of cancer development. If you inherit a mutated BRCA1 or BRCA2 gene from either parent, your risk of breast cancer is significantly higher.
Genetic Counseling
Before undergoing genetic testing, it is important to consult with a genetic counselor or healthcare provider. They can assess your risk based on your family history and other factors, discuss the benefits and limitations of testing, and help you make an informed decision. Your health care team will make sure that the right test is ordered for you.
The Testing Process
Genetic testing is typically done through a blood sample or a saliva sample. It's a straightforward process that can be done at a clinic or even through a mail-in kit. Once your sample is collected, it's sent to a laboratory for analysis.
Cost
The cost for genetic testing can be a barrier for some women, especially for those without insurance. The out of pocket cost can range anywhere from $0 to over $1,000. It’s important to know that most insurance companies will cover at least some of the cost, however coverage does vary based on your insurance plan and coverage. Coverage is also dependent on the type of test, some tests only look for mutations in the BRCA genes which tends to be less expensive, other tests evaluate for mutations in multiple other genes and can be more costly. Keep in mind that there are also affordable options for those without insurance, it is important to discuss the options with your health care provider to find out the best option for you.
What the Test Results Mean
There are three possible outcomes from genetic testing:
- Positive: A positive result means that you have a mutation in a gene, which can significantly increase your risk for breast cancer. It's important to discuss the implications of a positive result with your healthcare provider.
- Negative: A negative result means that no mutation was found. However, this does not mean you have no risk of developing breast cancer, as other genetic and environmental factors may still contribute to your risk.
- Variant of Uncertain Significance (VUS): Sometimes, genetic testing may find a genetic change that is not clearly linked to an increased cancer risk. In such cases, further research may be needed to understand the significance of this variant.
What to Do with the Results
If you receive a positive genetic test result, you'll want to discuss your options with your healthcare team. Your options may include increased surveillance, preventative measures, or even surgical options like a mastectomy or oophorectomy (removal of the ovaries).
For those with a negative result or a VUS, it's still essential to continue with regular breast cancer screening and follow your healthcare provider's recommendations for risk reduction.
Privacy and Insurance Concerns
It is important for everyone to be aware that genetic testing results are sensitive information. In some regions laws exist to protect your genetic privacy, but it's still a good idea to discuss the potential implications with a genetic counselor before testing. Additionally, consider the impact of genetic testing on health insurance and life insurance coverage, as policies may vary.
Genetic Testing: In Conclusion
Genetic testing for breast cancer risk can provide valuable insights into your health and help you make informed decisions about your future. However, it's not a one-size-fits-all solution, and it should always be approached with careful consideration, in consultation with healthcare professionals. Remember that genetic testing is just one piece of the puzzle, and a negative result doesn't mean you are risk-free. Regular breast cancer screenings and a healthy lifestyle are still essential components of breast cancer prevention, regardless of your genetic profile.
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Shelly Beckley is a dedicated healthcare professional with a strong background in oncology and over a decade of experience as a nurse practitioner. She holds a Master of Science in Nursing from MGH Institute of Health Professions in Boston, with direct experience in cancer care and patient advocacy. Her broad scope in breast health spans from counseling women who are at high-risk to the diagnosis, treatment, and survivorship in breast cancer. Shelly is passionate about improving healthcare outcomes and plays an active role in quality improvement initiatives for cancer care. She also leads the clinical team at Gabbi, a leading healthcare company working to make late-stage breast cancer obsolete.