23, BRCA and Me

At-home DNA testing kits have become very popular and for good reason. The tests are affordable (usually in the $50 to $200 range) and are easy to perform. In the privacy of one’s own home, a small sample of saliva is taken, either by swabbing the inside of the mouth or by spitting into a test tube. Next, the sample is sent off to a laboratory through the mail and results are returned in about three to four weeks.

There are many testing companies and each offer various services. Most promise to open doors to ancestral heritage, while others go a step further offering both ancestral information and genetic health. Those offering genetic health testing claim to be able to predict the possibility of increased risk of diseases like breast cancer, Alzheimer’s or Parkinson’s. I put the test on my wish list for the holidays and forgot about it.

Just before Christmas, I was surprised to receive one of the tests from my youngest daughter. She thought it would be a fun way to help me discover vital information for our family tree. She presented me with a pre-printed card informing me a kit would arrive within a week. I was excited and thought it would be interesting to see how accurate the information from the test would be.

When the kit arrived, I unboxed it and separated the components. There were two small test tubes, two swabs, collection instructions and a padded mailer. I followed the instructions carefully and after completing the procedure, packed up the materials to send in for testing. About four weeks later, I received the results. This specific company only provided ancestral information. I was hoping for more detailed results that included health findings from my DNA, but enjoyed learning my family history included Scottish, Irish, Scandinavian and Greek descent.

Since diagnostic health information was not included in the kit I was given, I thought perhaps it would be beneficial to repeat the test with another company that did. I began an internet search. As I read about the various companies and services provided, I was dismayed.

It was important for me to find out whether I was a carrier of the BRCA gene mutation. According to the National Breast Cancer Foundation, “Every human has both the BRCA1 and BRCA2 genes. Despite what their names might suggest, BRCA genes do not cause breast cancer. In fact, these genes normally play a big role in preventing breast cancer. They help repair DNA breaks that can lead to cancer and the uncontrolled growth of tumors. Because of this, the BRCA genes are known as tumor suppressor genes. However, in some people these tumor suppression genes do not work properly. When a gene becomes altered or broken, it doesn’t function correctly. This is called a gene mutation.”

Since I’d already been diagnosed with breast cancer, knowing if I was a carrier of the gene mutation might give us good information on the future chances of one of my girls getting breast cancer. I was skeptical of the accuracy of these types of online tests and after much thought, I decided against further testing.

In 2018, the U.S. Food and Drug Administration (FDA) granted permission to the genetic testing company, 23andMe, for personal genomic testing. The testing results would provide information on a person’s predisposition to various conditions or diseases. And although this company did include BRCA testing in their genetic and health risk assessment, their testing only focused on three known BRCA mutations out of over 1,000 types. This information concerned me.

Genetic testing and health risk assessments are not necessarily bad for the general public if results are received in the proper context. Dr. Jeffrey Shuren, M.D., director of the FDA’s Center for Devices and Radiological Health, says, “Consumers can now have direct access to certain genetic risk information, but it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”

Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health says, “This test provides information to certain individuals who may be at increased breast, ovarian or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of DTC genetic tests. But it has a lot of caveats, while the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test. The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk.”

So, what’s the bottom line? Those mail order DNA genomic testing kits are fun, but consumers must pay close attention to website warnings and wording. No genetic test should ever replace the medical expertise and advice of a highly trained physician, especially relating to a hereditary disease.

If a positive result is received, indicating a potential BRCA mutation, it would be important for follow-up with a trained medical professional. A negative result from one of these tests doesn’t necessarily mean the BRCA gene mutation is not present, it just means the company used for testing did not recognize the gene in the parameters of that specific test.

The popularity of home genetic tests can help build awareness and provide helpful information, but the buyer should always beware. Many companies out there today are offering very limited screenings providing a type of recreational genetics that some people find interesting, but the real danger comes when people jump to conclusions after receiving their results. They may assume everything is perfectly fine with their health or become unnecessarily frightened believing they are at high risk of contracting a disease.

One thing to remember, should you take part in one of these online tests, is that it is merely a screening tool. It is not a sound medical diagnosis. Any results should be confirmed by a trained professional specializing in the field of genetics.