At-Home Genetic Tests for Breast Cancer

Pros, Cons, and Kits

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 one's chances of developing breast cancer, detecting a genetic risk may be beneficial for some women in terms of prevention, early detection, and timely treatment. That said, it's important to remember that a number of different genes associated with the breast cancer have been identified, not all of which can be detected by these 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 268,000 women will be diagnosed with breast cancer in 2019. And, despite advances in early breast cancer diagnosis and treatment, over 41,760 women are expected to die of the condition in 2019.

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.

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.

Breast cancer genes may increase the risk of breast cancer through a number of mechanisms. There are many normal genes in the body that work to protect against cancer. Defects and alterations in these genes diminish the body’s natural ability to fight the disease.

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 it 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 or ovarian cancer.

Who Should Consider Genetic Testing

Usually, genetic testing for breast cancer is done for women 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 runs in the family.

According to the National Comprehensive Cancer Network (NCCN) guidelines, genetic testing is recommended for women who meet certain criteria:

  • Having breast cancer before the age of 50
  • Having ovarian cancer at any age
  • Having a blood relative with a known breast cancer mutation (e.g., BRCA) or a blood relative who has had two or more primary breast cancers
  • Having more than one blood relative on the same side of the family with breast cancer, with at least one diagnosed before the age of 50, or a male family member with breast cancer

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 physician. 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 physician 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 the recommended criteria listed above. Insurance is not likely to cover an at-home genetic test.

However, because of the seriousness of the disease, some women opt to have genetic testing even if their health insurance will not cover the cost. They may do this in a clinical setting or opt to use an at-home testing kits.

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 doctor. But there are other important considerations to keep in mind.

Accuracy

The lab your doctor 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.

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. In addition, a negative test result may mean that you don't have the particular gene(s) the at-home test looks at, but that doesn't mean that you don't have another gene that affects your risk.

The U.S. Food and Drug Administration (FDA) cautions that at-home tests should not be considered substitutes for being assessed by your doctor.

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 physician. 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 women and their loved ones a false sense of security if the test does not show a defective gene.

Some at-home test kits do include a phone number that you can call for genetic counseling. While that is a plus, you should not expect to get the same help with treatment decisions as you would when you see your doctor. You may be given accurate information about the percentage of people with a specific gene mutation who go on to develop breast cancer, for example, but that information won't be put into context given your full family and medical history, which is an advantage your physician can provide.

When it comes to such a major health issue, most women would benefit from the professional guidance of a medical team that has experience with the disease.

Breast Cancer Gene Testing Kits

The first (and, at present, the only) FDA-approved breast cancer gene test, the Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/BRCA2 (Selected Variants), was approved by the U.S. Food and Drug Administration (FDA) in 2018. The test kit is supplied by 23andMe, a company that is popular for producing reports that identify a person’s ancestry and countries of origin.

The at-home test can identify three different BRCA1 and BRCA2 genetic mutations that tend to be associated with breast cancer among women of Ashkenazi Jewish descent. According to reports, Ashkenazi women who test positive for these genetic abnormalities may have a 50% to 75% percent chance of developing breast cancer, which is significantly higher than the risk for women who do not have the mutations. These mutations rarely occur in other ethnic populations.

This particular genetic test was initially made available by 23andMe in 2010 and was discontinued at the urging of regulatory agencies until further testing validated the accuracy of the results. After further testing was approved according to regulatory standards, the test became available again.

At-home genetic tests are available through other companies, and you can have genetic tests for other diseases besides breast cancer. While other test kits may provide valuable information, it is hard for a consumer to know for sure. Because test kits that are not federally approved have not gone through the rigorous FDA approval process, it is unclear whether they work. And, because they are not regulated by the FDA, you may not have access to their data and track records.

A Partial Picture of Your Risk

The 23andMe test only detects three out of more than 1,000 known BRCA mutations. There are a number of other known breast cancer genes, and there are even other BRCA1 and BRCA2 genetic mutations linked with the disease.

While useful to a degree, this important fact must be kept in mind. In its announcement about the approval, the FDA highlighted this and said, "This test provides information to certain individuals who may be at increased risk and who might not otherwise get genetic screening...but it has a lot of caveats."

It's important that you use this and any do-it-yourself test with full awareness of what it can and cannot do.

Taking an At-Home Test

If decide to move ahead with do-it-yourself genetic test for breast cancer, you should schedule an appointment with your doctor ahead of time to discuss what you should do with the results when they come in. If you have a friend or family member you feel comfortable sharing this experience with, explain your plan and ask if you can count on their support.

If you want to take a commercially available breast cancer genetic test, you can buy it online or over the counter and administer the test on your own.

You will simply collect a sample of saliva according to the package instructions, properly package it to be mailed away for analysis, and wait for the results.

When Results Are Positive

If you have a positive result on an at-home genetic test, you need to discuss and verify your results with your doctor. You may need additional genetic tests that can identify a different variety of genes than the at-home tests do or that are more relevant to your family history and risk factors.

Some women who have a known genetic risk of breast cancer have opted for further diagnostic examinations such as imaging and biopsy. And some women have even taken the more drastic step of preemptively having surgical treatment— even in the absence of cancer.

Women with breast cancer genes have had procedures such as mastectomy (removal of breasts), oophorectomy (removal of the ovaries), or hysterectomy (removal of the uterus) because some breast cancer mutations are also associated with an increased risk of ovarian or uterine cancer.

With all of this in mind, it becomes clear that decisions about further diagnosis and further treatment are very complex and life-changing, requiring input and advice from experienced medical professionals who have seen the outcomes of cancer as well as the outcomes of treatment.

When Results Are Negative

It is not clear exactly how and why breast cancer occurs. At this time, most breast cancers are not associated with a genetic mutation or with a familial/hereditary component. Many women who develop breast cancer are the first in their families to have the illness.

There are many different types of breast cancer, such as medullary carcinoma, papillary carcinoma, ductal carcinoma, and others. Each of these types has a different appearance under a microscope, and it is highly likely that each type has a different cause. It is also very likely that there is more than one cause for each individual type of breast cancer. Some risk factors include smoking, exposure to hormonal therapy, and obesity.

Therefore is very important not to take a normal test result as 100% reassurance that you are not at risk of developing breast cancer. Keep in mind, too, that at-home genetic tests can only detect a few of the known breast cancer genes.

The recommended screening for breast cancer still applies to you even if you have a normal genetic test.

Breast Cancer Screenings

It is important to know that even if you do not have any of the genes that are known to be associated with breast cancer, you could still develop the disease. Clinical breast examinations (at your annual well check), mammograms (starting at age 45, unless otherwise recommended by your doctor), and monthly breast self-exams are among the most trusted ways to screen for breast cancer.

A Word From Verywell

When you have access to a test that can predict your chances of getting a serious disease—like breast cancer—it may seem hard to pass up that opportunity. However, at this point, an at-home test can only identify a few of the many breast cancer genes. Taking charge of your own health is an empowering step. Just be aware that you will need medical, social, and emotional support if you get positive results. And remember: While a negative result is ideal, it should not be taken as reassurance that you will never get breast cancer.

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Article Sources

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  2. Brandt-Rauf SI, Raveis VH, Drummond NF, Conte JA, Rothman SM. Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease. Am J Public Health. 2006;96(11):1979–1988. doi: 10.2105/AJPH.2005.083014

  3. Food & Drug Administration, "FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions"

  4. Eccleston A, Bentley A, Dyer M, et al. A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer. Value Health. 2017 Apr;20(4):567-576. doi: 10.1016/j.jval.2017.01.004. Epub 2017 Mar 3.

  5. U.S. Library of Medicine. Genetics Home Reference. "How can consumers be sure a genetic test is valid and useful?"

  6. U.S. Food and Drug Administration. FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes.

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