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.

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:

• 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.

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.

Decision Making Guidance

Some at-home test kits 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 healthcare provider. 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 healthcare provider can provide.

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

Breast Cancer Gene Testing Kits

The first 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.

This at-home test can identify three different BRCA1 and BRCA2 genetic mutations that tend to be associated with breast cancer among people of Ashkenazi Jewish descent. According to reports, Ashkenazi females 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 females who do not have the mutations. These mutations rarely occur in other ethnic populations.

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.

It's important that you use this and any do-it-yourself test with full awareness of what it can and cannot do. According to the CDC, "It’s important to know that this type of test may not give you a full understanding of your breast cancer risk, especially if breast cancer runs in your family."

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 healthcare provider 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 may be instructed on the package label to collect a sample of saliva and 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 practitioner. 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.

Your healthcare provider might recommend further diagnostic examinations, such as imaging and biopsy. And some people have even taken the more drastic step of preemptively having surgical treatment— even in the absence of cancer.

Females who test positive for certain 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 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 people 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 when observed with a microscope. 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.

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 healthcare provider), 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: A negative result should not be taken as reassurance that you will never get breast cancer.