Genetic Testing- What You Need To Know?

Updated: May 16

By Madhumitha Sabhanyagam & Laura Carfang

Genetic testing. Two words that you have probably heard a lot over your breast cancer survivor’s journey. What exactly is it and how does it concern you? Why is it important that you get tested and why are there conflicting conversations surrounding the topic?

These were some of the questions I had walking into the podcast interview with Fatima Amir, a Genetic Counselor at Dana Farber. (Make sure to catch the really informative podcast with Fatima on our website and subscribe to Breast Cancer Conversations where ever you get your podcasts!)

The study of genetics or the first genetic screening began in the 1930s. Since then the constant evolution of medical technologies has made genetic testing quite accessible and much more accurate. Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic testing in adults and children usually involves taking a sample of blood from a vein or tissue. They are all designed to identify a particular gene that may cause a genetic disorder. There are various forms of testing and these tests can be conducted in different stages of your life and for different diseases.


So how does genetic testing concern you? If you have been diagnosed with breast cancer, genetic testing can help you understand if there is a history of breast cancer in the family and if there is a possibility of other family members inheriting a genetic mutation predisposing you to cancer.


If you do not have breast cancer, genetic testing can help inform you of your own cancer risk. With this knowledge, you can decide to take the action that is best suited for you.


Prophylactic Double Mastectomy

The spotlight on genetic screening for breast cancer was cast when Angelina Jolie publicly shared her experience of being genetically tested positive for the BRCA1, which sharply increased her risk of developing breast cancer and ovarian cancer. She then decided to get a preventive double mastectomy procedure. Since then more women have opted to get tested, to know their treatment and preventive options usually opting for a prophylactic double mastectomy


Choosing or not Choosing Genetic Testing

Like any hard decision that we have to consider, there are two sides to this difficult choice as well. Testing can be overwhelming. There are a plethora of tests that can be carried out. Waiting for the result could cause anxiety and undue stress. Sometimes the tests may not even give you a conclusive answer. For example, one of my genes came back with what is termed a "variants of unknown significance" meaning that there is not enough data at this time to conclusively say if the gene is positive or negative. In this case, genes that come back inconclusive are treated as if they were negative and my treatment plan and surgical decisions reflected that.


Additionally, genetic testing is are not cheap and while procedure to undergo genetic testing only requires a blood test, the decision is not the easiest. There are several genetic labs that do offer financial assistance for those who qualify.


Ethical complications of asking a family member to undergo the screening with you are also substantial. Family members could be unwilling to take the test or undergo the test and not be able to cope with unexpected results, causing tension within the family dynamic. To some, negligence is bliss and we have to respect their decisions all the same way.


Is Genetic Testing Worth It?

Undergoing genetic testing has its benefits as well. You would your likely hood of getting cancer. True, it is not a certain fate but it does give you the knowledge to help you get prepared. One of the benefits of genetic screening is the fact that early detection of any type of disease or disorder is usually much less expensive when it comes to the treatment of that disease. Genetic screening also helps people that know a heritable disease runs in their family. We are not just talking about breast cancer either! You can be screened for up to a panel of 80+ genes! This means, for example, if you know that you may have a predisposition to colon cancer, your doctor may recommend starting screenings at an earlier age. Knowledge is power. But only in the right hands.


We also need to bear in mind that the information you receive from genetic testing is presented as an overall lifetime risk. It is critical that you discuss your results with your genetic councilor.


We have barely scratched the surface of genetic testing. I am sure, you have so many more questions. The right person to answer the questions you have is your genetic counselor! Lookup a genetic counselor that best suits your needs and explore your testing options. Tune into our frank and extremely informational podcast interview with Fatima Amir and see some of your questions being answered!


Till then, keep thriving my friends!

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