Next Steps, When Find You Are Genetically Predisposed for Cancer

I knew they would ask me all kinds of questions about my family health history during my initial appointment at a new gynecologist. But the news my doctor gave me after going through my forms was completely unexpected. She explained to me that I was at risk of having the BRCA mutation.  “The what mutation?”  I asked, totally confused and concerned about what she would say next. My doctor then explained how my family history of pre-menopausal breast cancer indicated a high risk for both breast and ovarian cancer.  This pattern was somehow related to a genetic mutation.  She referred me to a genetic counselor who would help me understand the whole thing better and make an informed decision on how to proceed.

Genetic Testing

Deciding whether or not to be tested for a genetic predisposition is tied to intense emotions. You experience feelings of anger, sadness, fear, loss– just to name a few.  Personally, I also felt overwhelmed and slightly numb. It is an emotional roller coaster.  You realize that it is possible to experience a new thought with a different feelings every second of every day.

After the initial shock wears off, or maybe while you are still feeling numb, you may start doing your own research about the BRCA mutation. The implications of any decision around genetic testing can be life changing. It is imperative to be as informed as possible. So, where do you start?   The first question I sought to answer was pretty basic. What does it mean to have a genetic predisposition to cancer? Here is what I found.

Every individual has two copies of genes, one from each parent.  Most individuals are born with two normal copies of each gene.  Genetic cancer happens when an individual is born with changes (or mutations) in one copy of genes that would typically protect against cancer.

Individuals have a fifty percent chance of passing the mutation to their children.  The changes increase the risk for cancer in different parts of the body.  It does not increase the risk for all types of cancer.  Medical professionals often use “genetic susceptibility” to describe individuals who are at high risk for cancer due to a genetic predisposition.

The genetic explanation that is most common refers to the BRCA1 and BRCA2 mutations, which significantly increases the risk of breast and ovarian cancer and slightly increases the risk for other cancers.  The following are signs that may indicate a genetic predisposition to breast and ovarian cancer:

  • Ovarian and Fallopian tube cancer at any age
  • Breast cancer at age fifty or younger
  • Breast cancer in both breasts
  • Male breast cancer
  • Triple-negative breast cancer
  • Ashkenazi Jewish heritage and breast cancer before age sixty

Also, having more than one blood relative on the same side of the family with any of the following cancers can be an indication of a genetic mutation:

  • Breast cancer
  • Ovarian or fallopian tube cancer
  • Prostate cancer
  • Pancreatic cancer
  • Melanoma

Genetic Counseling and Therapeutic Support

After reviewing the factors that suggested a genetic mutation,the next step was clear for me. I needed to consult with a genetic counselor.  What I did not know was that the decision to seek a genetic counselor was just the beginning of the journey.

Although having a genetic counselor is imperative to making educated decisions, it is just as important to have unbiased emotional support during this difficult time.  Having a space to speak openly about your feelings can lead to a better, more rational decision.  The emotional overwhelm that comes with having to decide between the possibility of having cancer versus proceeding with invasive surgeries can feel like an unbearable weight on your shoulders. Loved ones (and as you may find out, everyone else too) have opinions about what you should do. But no one can make this decision besides you. With the support of a therapist who is familiar with the field of genetic predispositions,  you can separate your thoughts and opinions from the thoughts and opinions of others.  You can find mental clarity by processing all the feelings that such a difficult situation brings up in you. Taking your time to work through this decision making process is invaluable.  Once you are tested and the results are known you cannot unlearn that information.