The BRCA1 and BRCA2 genes put women at an increased risk for breast cancer—but companies like Color Genomics make it easier for ladies to get answers
"Your results are ready."
Despite the ominous words, the well-designed email looks cheery. Unimportant.
But it's about to tell me if I'm a carrier for the BRCA1 or BRAC2 gene mutation, which will drive my risk of developing breast and ovarian cancer through the roof. It's about to tell me if I'll have to stare the possibility of a preventative double mastectomy in the face one day. Really, it's about to tell me what my health decisions are going to look like from this moment on.
This is not my first encounter with breast cancer. I have a family history of the disease, so awareness and education have been big parts of my adult life. (Here's What Really Works to Lower Your Breast Cancer Risk.) Still, by the time Breast Cancer Awareness month comes to a close each October, I've usually reached my limit of pink ribbons and fundraiser 5Ks. As for the technology to screen for the BRCA genes? I knew it existed, but wasn't really sure what do to about it.
Then I heard about Color Genomics, a genetic testing company that tests a saliva sample for mutations in 19 genes (including BRCA1 and BRCA2). It was such an easy option, I knew it was time to stop avoiding the issue and start making empowered decisions about my health. I pay attention to what goes into my body (read: only occasionally splurging on that second slice of pizza), so why aren't I paying attention to what's already going on inside my body?
I'm certainly not the first person to think about this. More women are making the decision to have such a scary screening. And Angelina Jolie Pitt shed some serious light on the dark subject two years ago when she tested positive for a BRCA1 mutation and publicly discussed her decision to have a preventative double mastectomy.
The conversation has only picked up since then. The average woman has a 12 percent risk of developing breast cancer and a one to two percent chance of getting ovarian cancer over the course of her lifetime. But women who carry a mutation of the BRCA1 gene are looking at an 81 percent chance that they will develop breast cancer at some point, and a 54 percent chance of developing ovarian cancer.
"One of the things that's really changed in the past few years is that the cost of genetic sequencing has really dropped dramatically," says Othman Laraki, co-founder of Color Genomics. What used to be an expensive blood test has now become a quick spit test for about a tenth of the cost. "Rather than expensive lab costs, the main blocking factor has become the ability to understand and process the information," he says.
That's something Color does exceptionally well—we're talking over 99 percent testing accuracy and results that are crazy easy to understand. With a roster of engineers from top tech companies (like Google and Twitter), the company makes understanding your results less intimidating—and more like ordering lunch on Seamless.
After requesting a spit kit online ($249; getcolor.com), Color delivers everything you need to send in a sample (basically, a test tube that you spit into). The whole process takes about five minutes and the kit even comes with a prepaid box to send your sample straight to the lab. While your DNA is in transit to their testing facilities, Color asks you to answer a few questions about your family history online, which helps the scientists better understand how heredity plays into your genetic risk. Ten to 15 percent of cancers have a hereditary component, meaning your risk is linked to a specific gene mutation in your family. For the 19 genes that Color screens, one to two out of every 100 people test positive for one or more mutation, according to Laraki. (Find out why Breast Cancer Is on the Rise.)
We all carry genetic mutations—those are what make us individuals. But some mutations mean dangerous health risks that you definitely want to know about—in fact, all 19 of the genes Color testsare linked to breast and ovarian cancer risk, as well as other types of cancer and life-threatening diseases).
According to Laraki, it's all about arming yourself with information. If you do carry a dangerous mutation, catching breast cancer early versus late has a massive effect on survival rates. According to the American Cancer Society, we're talking 100 percent if you catch it in stage I versus only 22 percent if you don't catch it until stage IV. That's a serious advantage to knowing your risks ahead of time.
After a few weeks at the lab, Color sends your results in an email like the one I received. Through their super user-friendly portal, you can see which genes, if any, have a mutation and what that mutation might mean for your health. Each test includes a consultation with a genetic counselor, who will walk you through your results and answer any questions. If you ask, Color will even send your results to your doctor so you can work with her to make a plan.
So as for me? When I finally, clicked that ominous "View Results" button, I was almost surprised to find out that I don't carry any dangerous genetic mutations—in the BRCA genes or otherwise. Cue a gigantic sigh of relief. Considering my family history, I was prepared for the opposite (so much so that I didn't tell any friends or family that I was being tested until after I'd received my results). Had they been positive, I wanted the time to get more information and to talk to my doctor about the best way to plan before discussing the decision.
Does this mean I'll never have to worry about breast cancer? Of course not. Like most women, I still have a 12 percent risk of developing the disease at some point. Does this mean I can rest a little easier? Absolutely. Ultimately, no matter how big my personal risk is, I want to be prepared to make smart health decisions, and after getting tested, I definitely feel more equipped to do that. (Make sure you know about the American Cancer Society's Update to Breast Cancer Screening Guidelines.)