Two years after undergoing a preventive mastectomy, Angelina Jolie Pitt revealed last month that she'd also had her fallopian tubes and ovaries removed to curb her genetic cancer risk. Her decision to do so was partly due to testing that showed she had a BRCA1 gene mutation. Now, there's a brand-new, direct-to-consumer version of that genetic test — one that claims to give you results for way, way cheaper.
Announced and on sale yesterday, the new test comes from startup Color Genomics. Rather than using blood, it can assess 19 genes, including those associated with an increased risk for breast and ovarian cancers from just a saliva sample. This includes both BRCA1 and BRCA2 mutations. The tests are ordered through a healthcare professional, evaluated by a doctor associated with the company, and from there, users will have the option to be connected with a genetic counselor.
Remarkably, Color Genomics is selling the test kits for just $249, while a comparable test from Myriad Genetics can cost up to $4,000 (a price for which the company has been criticized). As high-profile genetic-testing cases drive the demand among us normal folk, insurance companies have so far refused to pay for genetic-risk assessment for healthy people who don't have a familial or personal history of cancer. Still curious, many may turn to this (comparatively) low-cost option to learn about their genetic profiles.
However, not everyone needs to be tested, says breast cancer researcher Mei Fu, PhD, at NYU's College of Nursing. In Angelina's case, Dr. Fu says her extensive family history was enough to warrant the tests. But, physicians have long been wary of at-home tests like this that may freak the rest of us out unnecessarily.
"It’s never a bad thing when you can get a really expensive test at a more affordable cost," says Jennifer Litton, MD, at the University of Texas M.D. Anderson Cancer Center. "But, genetic testing is a really complex thing, and it’s never a yes or no answer."
Instead, cancer is a multifactorial disease, meaning your genes are only one piece of the risk puzzle. For starters, having a risk for developing cancer — even a big one — doesn't seal your fate. And, Dr. Litton reminds us that "inherited genetic mutations really only account for a very small portion of the people who get breast cancer."
Other, larger pieces are those environmental and lifestyle factors we're so fond of ignoring (think eating well, exercising, and not overdoing the alcohol). One worry is that a negative test might fool us into thinking we don't have to do those things at all.
"If a patient has a negative result, they might say 'Oh, I don’t have a risk; I can do whatever I want,'" says Dr. Fu. "Meanwhile, if the patient has a positive test, they'll be scared to death." Either way, both the data interpretation and following consultation are key to keeping us on the healthiest track, which may not be an obvious one. So, patients who test positive for a scary gene mutation but are otherwise risk-free are left in a sort of limbo, waiting for the other genetic shoe to drop.
And, we're still learning — a lot. "We may not have complete pictures of how mutations identified in [some] genes really estimate the risk in any one person," says Dr. Litton. "For many of the genes, we don’t necessarily have a recommendation for what to do [because] we’re still learning about them and whether it’s enough of a risk to warrant extra screenings or, potentially, surgery."
This was partly what fueled the Food and Drug Administration's crackdown on 23andMe tests in 2013. The tests claimed to offer assessments of "risk status," but weren't approved to do so. Unlike with 23andMe, a physician will have to order the Color kit for you — despite the fact that they won't be reimbursed by insurance. For those who have an established risk, the test can be essential, says Dr. Fu. "If you test positive, you can change your lifestyle to impact the gene expression or plan your personal life and decisions."
"So, the test may be interesting and helpful, but it in and of itself shouldn’t determine someone’s risk," says Dr. Litton. "It should be in context of multiple other risk factors and should be done with the help of a genetics professional to interpret the results for each individual." Overall, Dr. Fu also sees the rise of accessible, affordable genetic testing as a good thing. But, these tests have to be implemented cautiously. As patients, it's easy for us to feel powerless in the healthcare decision-making process. Seeing your results and data firsthand can make big choices feel more accessible. While of course you should have the option to not know your personal roster of inherited vulnerabilities, you should also have the option to find out.
"So, the test may be interesting and helpful, but it in and of itself shouldn’t determine someone’s risk," says Dr. Litton. "It should be in context of multiple other risk factors and should be done with the help of a genetics professional to interpret the results for each individual." Overall, Dr. Fu also sees the rise of accessible, affordable genetic testing as a good thing. But, these tests have to be implemented cautiously. As patients, it's easy for us to feel powerless in the healthcare decision-making process. Seeing your results and data firsthand can make big choices feel more accessible. While of course you should have the option to not know your personal roster of inherited vulnerabilities, you should also have the option to find out.