Ok, I know genetic testing can be a bit confusing and frightening. I’m gonna give you a basic overview. There’s three genes now that can be tested which may increase your risk of developing cancer if you have them. BRCA1, BRCA2 (cleverly name after BReast CAncer), and PALB2 (Partner And Localizer of BRCA).
When working normally these genes actually keep breast cells growing normally and will actually prevent cancer cell growth, but when there is a mutation in one or more of these genes they do not function optimally and may increase your risk of developing breast cancer.
A crazy statistic is 1 out of 10 cases of breast cancers occurring have one of abnormal genes. Where do you get these mutations? You get it from your momma or dad or both. Basically, it’s passed down from one generation to the next. If breast cancer runs in your family, genetic testing can help you determine if it’s due to one of these genes and may help your provider determine the best treatment plan for you if you do develop breast cancer.
Video 1: Genetic counselor Joyce Turner, MSC, CGC, provides an overview of BRCA genes and their relationship to breast and ovarian cancer. She explains how each of us inherits BRCA genes from our parents, the role of those genes and what happens if we inherit a gene mutation. She also talks about how genetic counseling and testing can give a woman information she can use to make decisions about her health.
So is genetic testing right for you?
Does breast or ovarian cancer run in your family? Yes No
Will you feel relieved to know the result? Yes No
Do you want to know to empower to yourself to create the best prevention plan for you? Yes No
If you answered yes to all three, you may want to consider genetic testing.
How does it work?
1. Check to see if your insurance will cover the genetic testing.
2. Decide if you want to be tested for BRCA1, BRCA2, and PALB1 or a panel test including multiple breast cancer related genes. Prices vary from $300-5,000. Ensure the facility you are using is meeting the highest standards by finding one who is a Clinical Laboratory Improvement Amendments (CLIA) approved facility.
3. Decide how private you want to be. There is an act to prevent discrimination from insurance plans for those who undergo genetic testing called, The 2008 Genetic Information Nondiscrimination Act. If you’re still concerned, you may consider paying for the testing yourself with a pseudo name. One caveat, life insurance does not fall under the umbrella of this act. Make sure to secure your life insurance policy before undergoing genetic testing. You may also request that your results not be recorded in your medical chart.
4. Discuss with your doctor or genetic counselor about genetic testing. If it’s a go, you will typically have blood drawn and received results back in approximately 4 weeks.
5. Discuss with your family if they’d like to know the results as well. Remember just because you want to know doesn’t mean everyone does.
Video 2:Lisa, age 40, talks about how her family history led her to get genetic counseling and testing for BRCA gene mutations. She describes the genetic testing experience, and how it helped her understand her family history and manage her risk for breast cancer.
Pros vs. cons of knowing:
If negative results are received then you know you have a normal risk factor like everyone else and can follow the established prevention and detection guidelines.
If positive you can take action to help lower your risk and detect the cancer early on.
• You have the ability to be proactive to help decrease your risk of developing breast by taking hormonal therapy medicine such as tamoxifen, Evista , or Aromasin.
• You may choice to have bi-yearly clinical exams and breast screenings.
• Consider asking for digital mammography.
• Consider adding an MRI (magnetic resonance imaging) in addition to mammography.
• These same genes may increase your risk for ovarian cancer as well so you may consider regular pelvic exams and ultrasounds. Consider a CA-125 blood test which detects early signs of ovarian cancer.
• You may want to go Angelina Jolie and have surgical removal of your breast, ovaries, or both as a preventative measure.
• You already informed, if you develop breast cancer you have more information to make the best treatment plan for you.
• Your genetic testing information can be used in research which could lead to an eventual cure or prevention of breast/ovarian cancer.
• Surgical removal of breast and/or ovaries does not guarantee you will not develop these cancers. Some cells may be left behind and the cancer may show up in tissues nearby.
• Just because your results are normal doesn’t necessarily mean your genes are healthy. Other genes we do not know of yet may be a contributing factor.
• Close monitoring with regular exams and screening does not always succeed in detecting breast and/or ovarian cancer early.
• Anxiety and depression may result when you hear the news.
• You may feel worried or guilty that you passed on the gene to your children.
So you may have some decisions to make. I do as well. Breast cancer runs in my family among a slew of other things. This is just an overview to get you thinking. You can check out more at the links listed below. What do you think about getting tested? Comment below.