At-Home Genetic Test for Breast Cancer

Pros and Cons of Testing at Home

at home test
Hero Images/Getty Images  

Breast cancer is among the leading causes of cancer in women. According to estimates from the American Cancer Society, it is anticipated that over 250,000 women will be diagnosed with invasive breast cancer in 2018. And, despite advances in early breast cancer diagnosis and treatment, over 40,000 women are expected to die of the condition in 2018.

While there are recognized risk factors associated with breast cancer, the causes of the disease are not known.

Research has found that there is a hereditary component to the risk and a number of different genes that are associated with an increased risk of breast cancer have been identified.

It is unclear exactly how much of an impact these genes may have on an individual woman’s chances of developing breast cancer, but detecting a genetic risk may be beneficial for some women in terms of prevention, early detection, and timely treatment.

Criteria for Genetic 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 a discussion of the test results.

Usually, genetic testing for breast cancer is done for women who have a strong family history of the condition. There is evidence that having family members 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 or a blood relative who has had two or more primary breast cancers

In addition to these, there are a variety of other criteria that the NCCN consider 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.

While your health insurance might or might not pay for genetic testing for breast cancer, there is a higher likelihood that the cost will be covered if you meet the recommended criteria. Because of the seriousness of the disease, some women opt to have genetic testing even if their health insurance will not cover the cost of the tests.

Breast Cancer Genes

Breast cancer genes are genetic mutations 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, 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. Mutations or defects in these genes diminish the body’s natural ability to fight cancer.

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.

At-Home Testing Kits

A self-administered at-home genetic test for breast cancer was approved by the FDA in 2018. The test kit is supplied by the company 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 50-75 percent chance of developing breast cancer, which is significantly higher than the risk for women who do not have the mutations.However, these mutations rarely occur in other ethnic populations.

There are a number of other known breast cancer genes, and there are even other BRCA1 and BRCA2 genetic mutations linked with breast cancer. In fact, this test only detects three out of more than 1,000 known BRCA mutations.

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.

This test is different from other tests for two reasons: it is sold directly to consumers, and it is approved by the FDA. At-home genetic tests are available through other companies, and you can have genetic tests for other diseases besides breast cancer. At this time, a big difference between the 23andME breast cancer gene test and other test kits is that this test has specifically been approved by the FDA.

Taking the Test

If you want to take the commercially available breast cancer genetic test, you can buy it online yourself and administer the test to yourself by following the package instructions. This is a test that does not require any injections, blood samples, or medical personnel. It is done using a sample of saliva. So you would send in a sample of your saliva according to the package instructions and wait for the results.

Getting Your Results

There are several differences between having a self-administered genetic test and getting a genetic test at your doctor’s office. One major difference is that with an at-home test, you are, in many ways, on your own when you get the results. You are in control of when you take the test and you are also in control of your next steps. This could mean ignoring the results, becoming depressed about the results, or misinterpreting their significance.

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 the defective gene. 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.

If you are planning on getting a do-it-yourself genetic test for breast cancer, you should schedule an appointment with your doctor to discuss the plan even before the results are due to come back. And, if you have a friend or family member who you trust, you should talk with that person to involve them and to be able to count on their support as you approach this very important issue.

Another concern is that you could become severely depressed or hopeless if you learn that you are at risk for breast cancer, particularly if this result also means that your female blood relatives, including your daughters, are also at risk. This is why, when it comes to dealing with the emotional burden and the medical decision-making of a breast cancer gene test, it is important for you to have a medical and personal support network that you can count on to keep you focused on staying healthy.

What Happens If a Breast Cancer Gene Is Identified?

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 steps of pre-emptively 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 and require input and advice from experienced medical professionals who have seen the outcomes of cancer as well as the outcomes of treatment.

What Happens If No Breast Cancer Gene Is Identified?

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 appears different on a microscopic examination, and it is highly likely that each type has a different cause. In fact, it is very likely that there is more than one cause even for each individual type of breast cancer. Some risk factors include smoking, exposure to hormonal therapy, and obesity.

Therefore, it is very important not to take a normal test as a reassurance that you are not at risk of developing breast cancer. The recommended screening for breast cancer still applies to you even if you have a normal genetic test.

More Ways to Screen

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 condition.

Breast examinations, mammograms, and self-checks are among the most trusted ways to screen for breast cancer.

Self-checks are self-administered breast examinations that are recommended to be done at home two weeks after your menstrual cycle or approximately once per month if you have had menopause. During a self-check, you feel the breasts to check for lumps, hardening, pain, sensitivity, and changes in the texture or appearance of your breasts.

You can learn to do a self-check by following instructions that your doctor may give you. The key is to examine your breasts, as well as the area under your arms, and your lymph nodes. You should use your bare hands to examine your own breasts, and you should also look at them to make sure there is no bleeding, bruising, discharge, rash, color changes, dimpling or change in shape of your breasts.

Your doctor can also examine your breasts at your annual check-up. Your own self-examination differs from your doctor’s examination because you can detect changes in your own breasts, while your doctor can detect variations from what a typical breast examination should be.

Mammograms are imaging tests that are specifically designed to examine the breasts. The America Cancer Society recommends starting them at the age of 45. Mammograms are screening tests that can identify abnormalities in breast tissue. If you have any abnormalities identified on a mammogram, you may need a follow-up imaging test or a biopsy to better examine the abnormality in more detail.

A Word From Verywell

The idea of at-home gene testing for any disease may seem appealing. When you have access to a test that can predict your chances of getting a serious disease—like breast cancer—it is hard not to take that opportunity. However, at this point, the at-home test can only identify a few of the many breast cancer genes. It would not be surprising if more thorough genetic testing for breast cancer and other diseases become readily available for consumers in the upcoming years.

If you or your loved one plans to take an at-home genetic test for breast cancer, know that taking charge of your own health is an empowering step. Knowing as much as you can about your disease risk is the best way to plan your own healthcare. Just be aware that you will need medical, social, and emotional support if the test turns out to show that you carry the breast cancer gene.

Also be aware that negative test result (a report that you do not have the gene) should not be taken as reassurance that you will never get breast cancer. You still need to get screening tests for breast cancer even if your results do not show the gene.

View Article Sources