Trying to decide if one wants or would benefit from genetic testing of any kind is a very personal matter. Some people in fact become quite emotional about it. Without considering the cost factor, some people, like my mother, can never seem to have too much information. On the other end of the spectrum, some people view genetic testing as somehow tampering with God’s master plan. They do not believe we should try to control the mysteries of our genetic makeup. Still others just don’t want to know secrets of their DNA, for a variety of reasons. The majority of people are probably somewhere in the middle and are mostly confused by conflicting information, thoughts and emotions, so they do nothing or decide to wait and see.
This post will be an attempt to provide some very basic information intended to perhaps give some help in making this tough decision about BRCA gene mutation testing. I have gone through the testing process twice. Once as an observer with my mother and later testing positive for BRCA2 myself. For this particular post, I’m leaving my personal opinions out, easier said than done!
Once again, it is important to point to statistics in this matter. Ordinarily a woman’s risk of developing breast cancer in her lifetime is about 12%. However, for a woman with BRCA mutations, this risk jumps to an astonishing 50-85%. Similar spikes occur for ovarian cancer odds, the normal population risk being about 1.6% and someone with a BRCA1 mutation having perhaps up to a 55% lifetime risk. In addition, women with these mutations are at a higher risk for developing disease earlier in life and again some statistics show earlier onset of disease may result in more aggressive cancers. It’s also worth mentioning that in actuality only about 10% of breast cancers are caused by a mutated gene.
Sifting through all of this statistical data can be quite daunting. Simplistically stated, if it seems there are “too many” cancer cases in your family, it’s time to talk about it with your doctor and then you can decide how to procede.
When considering genetic testing for BRCA, you and your doctor will obviously take a close look at your family history. He or she will try to construct your family tree as accurately as possible and look for inherited patterns for cancer. The confusion comes when deciding how many cases indicate a pattern. Also, it should be pointed out that BRCA mutations are also passed on through men, so don’t neglect both sides of the family tree.
Generally speaking the greatest benefit for testing is for those who fall into the following categories:
For women with Jewish or Ashkenazic backgrounds
- If you have any first degree relative, meaning a parent, sibling or child, diagnosed with breast or ovarian cancer and two second-degree relatives (aunts, uncles, grandparents, nieces, nephews, or half-siblings), this is a red flag.
For women not of the above mentioned background
- Two first- degree relatives diagnosed with breast or ovarian cancer, one of whom was diagnosed before age 50.
- Three or more first-degree or second-degree relatives diagnosed at any age.
- A combo of first or second- degree relatives diagnosed with breast or ovarian cancer, one type of cancer per person.
- A first-degree relative diagnosed with bilateral breast cancer (both breasts).
- A combo of first or second-degree relatives diagnosed with ovarian cancer regardless of their ages.
- A first or second-degree relative diagnosed with both breast and ovarian cancer, again regardless of their age at diagnosis.
- A male relative with a breast cancer diagnosis.
If you find yourself falling into one of these categories, you may want to consider meeting with a genetic counselor just to learn more. If you want them to, they will then help you in figuring out who is the best living relative to be tested first and why. Generally, genetic testing information is most helpful when it starts with a family member who has had early breast cancer or ovarian cancer. Results of their test would help determine if you should be tested as well. However, if there is no living relative or if such a family member chooses not to be tested, you can go ahead and be tested yourself anyway.
The next hurdle is probably figuring out the cost and insurance coverage. For the initial family member to be tested, the cost is generally in the $3,000 range. For subsequent family member testing, it drops to around $400 because specific gene sequences can be analyzed; they aren’t starting from scratch, so to speak. Insurance coverage for both types is improving, but still varies greatly, so obviously the cost factor is hugely prohibitive for some. Don’t assume you are or are not covered. Find out for sure.
The next step is to ask yourself if you really want to know the information you will receive. Some people simply decide they do not want to know their potential risk, while others definitely do. There is no right or wrong here.
Also, decide what you intend to do with the information if you test positive.
- Will you take proactive steps such as prophylactic mastectomy?
- Will you feel better knowing you are at greater risk, but taking steps to perhaps prevent cancer?
- Will you live in fear and paranoia, constantly worrying about cancer?
- Will knowing affect your children or even affect your decision to have children?
- Will your quality of life be altered?
- Will relationships be affected?
- Will you constantly live with feelings of guilt if found to be positive?
These are all serious questions to ask yourself before proceeding. It’s important to remember that testing positive does not mean you will get cancer. Also, testing negative does not mean you will never get cancer.
Finally, take some time to think about your decision to go ahead with genetic testing or not. Just because you can know something, doesn’t mean you must or even should. Don’t let anyone pressure you into testing, but don’t put your head in the sand either. Take charge of your health and body. Make the decision that is right for you.