What Your Genes Are Telling You

Angelina Jolie’s announcement earlier this summer that she had a double mastectomy to prevent the possibility of contracting breast cancer came as a shock to many of her fans. The actress made the decision after learning that she, like other women in her family, had a genetic mutation her BRCA genes. Jolie, in her announcement, put her risk of getting breast cancer because of the defective gene and her personal history at 87 percent. The National Cancer Institute says that patients with BRCA mutations are five times more likely to be diagnosed with breast cancer and up to 28 times more likely to be diagnosed with ovarian cancer. Jolie’s mother died of ovarian cancer while her aunt recently died from breast cancer.

Jolie wrote these words about her decision to have a preventative double mastectomy, “My mother fought cancer for almost a decade and died at 56. She held out long enough to meet the first of her grandchildren and to hold them in her arms. But my other children will never have the chance to know her and experience how loving and gracious she was.”

Her decision prompted others to start asking questions: Should I have the test for the mutated gene? What other genetic tests are worth taking? You may be asking yourself the same questions. To be sure, early testing can lead to early cures. Here’s what the experts say about early genetic testing and screenings:

• Age matters. Up until about 40, health tests generally aren’t recommended as a rule of thumb. As long as you’re healthy and don’t have any family history of certain diseases at early ages, you can get by with few tests. But once men and women reach 40, that’s when regular screenings are essential. One example is having colorectal cancer screenings at age 50. Colorectal cancer is third leading cause of death for both men and women in US. There’s a five-year survival rate when diagnosed at an early, localized stage. That rate of survival is 90 percent, but only about 40 percent of colorectral cancer is diagnosed at these early stages.  Your primary care physician can help you decide the right tests for you.
• Know your family history. Another advocate of early testing is Pierce Brosnan, whose daughter and wife both died of ovarian cancer. In fact, his daughter’s passing marked the fourth generation of women in a row to succumb ovarian cancer. In this case, forwarned is forearmed. Keep track of parents’, grandparents’, and extended families’ medical histories and compare to your own. If you have warning signs at early ages, don’t wait until the recommended age to get tested. Early detection for diseases like Alzheimer’s leads to more treatment options. Taking cholinesterase medications for people in early stages of Alzheimer’s can delay worsening of symptoms for 6 to 12 months, on average, for about half the people who take them.
• Map your personal genome. There are many projects in the works, like the Personal Genome Project, to allow all people the opportunity to sequence their DNA. While reading your genetic code can give you a clue as to what diseases you might be prone to, some mutations don’t mean you’re definitely going to get that disease. But DNA information is helpful to determine whether you should take preventive measures, like Jolie, especially if you have a strong family history. Not all these tests are readily available right now, or at affordable costs, but some companies like 23andMe do offer cheap DNA testing. For just $99 you can genotype your DNA, which means looking for markers of genetic mutations.

Most doctors and medical professionals will tell you that it’s better to get tested and have awareness earlier. But Don Powell with the American Institute for Preventive Medicine cautions patients not to become fatalistic if you do test positive for a disease. Even though you might have a predilection for a certain type of cancer or mental illness, it’s not an excuse to not take preventive measures and live a healthier life. Early detection is what saves lives, but Powell suggests only taking these often expensive tests only if there’s a family history. Being a rational, knowledgeable medical consumer can help you save money and your life.