Q: Recently I read about Angelina Jolie having a double mastectomy to lower her risk of getting breast cancer. I have a story about my sister I would like to add. She didn’t have a history of cancer, nor did any of her close relatives, but after having a mammogram she was found to have it in her left breast. Her surgeon suggested she have the genetic testing, which she did. When the test results came back, they were not straightforward and that really confused her. So, after consulting back and forth with her doctor, she decided to have both breasts removed. Now our question is this. Why does only one company have a specific test that affects every woman and we’re not hearing about it until now? How many lives could have been saved over the years and how much heartbreak could have been spared if we had known about it before this?
A: Gene testing for breast cancer is not new to the medical field. It’s been around for years but sometimes it takes a celebrity to bring things to light. And, it is true that only one company makes the BRCA test. Myriad Genetics holds the patient but the ACLU is fighting the patient because it is for the gene, jot just the genetic test. I don’t know when your sister was tested; however, what I do know is that having the BRCA1 or BRCA2 gene dramatically increases a woman’s risk of developing breast and ovarian cancer. In Angelina’s case and because her mother died of ovarian cancer at an early age, this elevated her risk up to 80% greater.
The BRCA1 and 2 are in a class of genes known as tumor suppressors. Their mutation has been linked to hereditary ovarian cancer in women and breast cancer in both men and women. Testing may include blood drawing, saliva collection, cell samples from the inside of a cheek, skin cell collection, or amniotic fluid testing. There is not only one company that does the testing; however, they are all using the Myriad Genetics BRCA test. Genetic testing has been performed for years. In fact about a year ago, research advanced to allow for the genetic component of Parkinson’s to be detected. Prior to that, it was simply unavailable. That’s progress in the medical field. Laboratories in the United States that perform genetic testing must be certified and regulated under the Clinical Laboratory Improvement Amendment (CLIA) for quality, accuracy and reliability. However, the certification does not guarantee a genetic test being done by them is medically useful. While some states block the approach, some testing may even be done without the guidance of a physician. Home testing kits allow an individual to collect tissue samples and submit them through the mail. The individual ultimately obtains his or her results either through the mail or via phone. While this may ensure patient privacy, I’d be somewhat fearful of receiving such vital information this way.
According to estimates of lifetime risk, approximately 12% of women will develop breast cancer at some time during their lives. For those women who have inherited the mutation in BRCA1 or BRCA2, that figure increases to 60% and that is frightening. When it comes to ovarian cancer in the general population, the lifetime risk is 1.4%. That figure skyrockets to up to 40% in women with the mutation. Keep in mind that most of the research performed thus far has been done on large families with many of the relatives known to be affected by cancer. It is possible, therefore, that the large number of cases found may be due – at least in part – to other genetic or environmental factors. Further, not all test results give a clear, definitive answer. Variants may occur and can lead to many unanswered questions. This is where the knowledge and professionalism of a genetic counselor comes in to play.
Keep in mind that not everyone who inherits the mutation will develop cancer. Even when an individual has one copy of a dominant cancer-predisposing mutation, he or she may not develop cancer.
At this stage, there are no specific standards for recommending or discouraging BRCA1 or BRCA2 mutation testing; however, genetic testing is recommended when the following three criteria are met: 1.) the person has a personal or family history that suggests an inherited cancer risk; 2.) the test results can clearly indicate whether a specific change is either present or absent; and 3.) the results provide information that will help guide the individual’s future medical care.
If your family has questions, each of you should speak with your own physician to determine if testing is in your best interests. Research allows for advancement every day in helping discover new cures and methods of early detection. Who knows, we may some day even learn how to cure the common cold!
