At-Home Genetic Tests for Breast Cancer
At-home genetic testing for breast cancer can be used to identify an inherited susceptibility to the disease. While genes are not the only factor when it comes to your chances of developing breast cancer, detecting a genetic risk may be beneficial for some people in terms of prevention, early detection, and timely treatment. That said, it’s important to remember that a number of different genes associated with breast cancer have been identified, and they aren’t all detectable with do-it-yourself kits.
According to the National Comprehensive Cancer Network, breast cancer is among the leading causes of cancer in women. According to estimates from the National Cancer Institute, it is anticipated that over 281,550 females will be diagnosed with breast cancer in 2021. And, despite advances in early breast cancer diagnosis and treatment, approximately 43,600 females are expected to die of the condition in 2021.
Breast Cancer Genes
Breast cancer genes are genetic mutations (defects) that increase the risk of having breast cancer. Some of the genetic mutations that have been identified in association with breast cancer include BRCA1, BRCA2, and non BRCA mutations, including PALB2, CHEK2, PTEN, STK11, TP53, ATM, CDH1, NF1, and NBN.3
The names given to the mutations are often based on their location within the chromosome, the scientist or lab in which they were discovered, or a description of the gene’s normal function.
For example, PTEN is called by this name because it describes a mutation in the phosphatase and TENsin homolog gene, which, under normal conditions, helps prevent tumor growth. When this gene is abnormal, it can allow tumors to grow, and a defect in this gene is one of the genetic abnormalities associated with breast cancer.
Sometimes, having more than one breast cancer mutation increases the risk of developing breast cancer, ovarian cancer, or other types of cancer.
Who Should Consider Genetic Testing
Usually, genetic testing for breast cancer is done for people who have a strong family history of the disease. There is evidence that having relatives with breast cancer increases the chances that one or more breast cancer genes run in the family.
According to the National Comprehensive Cancer Network (NCCN) guidelines updated in September 2020, genetic testing is recommended for people who meet certain criteria, some of which include:4
- Being diagnosed with breast cancer before the age of 45
- Being diagnosed with breast cancer between age 45 to 60 as well as another personal diagnosis of breast cancer or a close relative with breast, pancreatic, or prostate cancer or an unknown family history
- Being diagnosed with triple-negative breast cancer before age 60
- Having invasive ovarian cancer at any age
- Having male breast cancer at any age
- A personal history of prostate cancer and one or more close relatives with breast, ovarian, pancreatic, or prostate cancer
- A personal history of pancreatic cancer and at least one close relative with ovarian or pancreatic cancer or at least two close relatives with breast or prostate cancer
- Having a blood relative with a known breast cancer mutation (e.g., BRCA)
- A personal diagnosis of breast cancer and having a close relative with breast cancer diagnosed before age 50 or ovarian cancer at any age or at least two relatives with pancreatic cancer or breast cancer or a male relative with breast cancer or Ashkenazi Jewish ancestry
- If you have a first or second-degree relative who meets any of the criteria
In addition to these, there are a variety of other criteria that the NCCN considers risk factors that warrant genetic evaluation. The guidelines primarily involve family history and personal history of breast or ovarian cancer, and sometimes, a personal history of other cancers.
Laboratory vs. At-Home Testing
Diagnostic testing for genetic causes of breast cancer has traditionally been done in a medical setting, with a genetic test ordered and interpreted by a practitioner. Generally, genetic counseling and treatment planning are arranged along with it.
Among the benefits of this, your sample is likely to be reliably handled and your healthcare provider is looped in on results, which can help you make sense of the findings.
Your health insurance may or may not pay for clinical genetic testing for breast cancer, but there is a higher likelihood that the cost will be covered if you meet recommended criteria. Insurance is not likely to cover an at-home genetic test.
However, because of the seriousness of the disease, some people opt to have genetic testing even if their health insurance will not cover the cost. This can be done in a clinical setting or with an at-home testing kit.
At-home tests are easily accessible (many can be ordered online or even purchased at a drugstore) and some have a more affordable price tag than a test you’d get through your healthcare provider. But there are other important considerations to keep in mind.
Accuracy
The lab your practitioner uses is mandated to follow federal regulations and possibly additional state requirements pertaining to how the test is done, the qualifications of the lab professionals, and quality control procedures. According to the U.S. National Library of Medicine, these standards (the Clinical Laboratory Improvement Amendments, or CLIA) help ensure the analytical validity of genetic tests—that is, how well the test predicts whether or not a gene or genetic change is present.5
However, not all direct-to-consumer genetic tests for breast cancer or any other disease are CLIA-certified, so you cannot be certain that results are accurate.
The U.S. Food and Drug Administration (FDA) cautions that at-home tests should not be considered substitutes for being assessed by your healthcare provider.
Getting Results
When you take an at-home test, you are, in many ways, on your own. You alone receive the results—and you alone decide what to do (or not do) with them. In some cases, positive results may cause emotional distress that could otherwise be checked or managed by a healthcare provider. It’s also common for people to misinterpret results and their significance, painting an inaccurate picture of their breast cancer risk.
In fact, experts have voiced concern that the self-administered genetic test for breast cancer could give test-takers and their loved ones a false sense of security if the test does not show a defective gene.