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This Company Offers Genetic Testing for Breast Cancer at Home

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Photo: Dorling Kindersley: Dave King/Getty Images

In 2017, you can get a DNA test for pretty much anything health-related. From saliva swabs that help you figure out your ideal fitness regimen to blood tests that tell you what could be your most effective diet for weight loss, the options are endless. CVS is even carrying take-home DNA tests by 23andMe that screen for genes related to weight, fitness, and overall health. And then, of course, there are genetic tests for increased risk of serious diseases, like cancer, Alzheimer's, and even heart disease. Ideally, these tests arm people with information that can help them make better decisions about their health, but the increased accessibility raises questions, like "Are at-home tests as effective as ones performed in a clinical setting?" And "Is knowing more about your DNA always a good thing?" (Related: Why I Got the Alzheimer's Test)

Recently, a newer health services company called Color launched a discounted standalone BRCA1 and BRCA2 genetic test. The saliva test costs just $99, and you can order it online. While it's definitely a good thing for more people to be informed about their genetic risk for breast and ovarian cancers (the two cancers the BRCA gene mutations are associated with), genetic testing experts worry about making these tests available to the public without providing patients with the proper resources.

How the Test Works

One of the best things about Color's genetic tests is that they're physician-ordered. That means that before you take the test, you'll have to talk to a doctor—either your own or a physician provided by the company—about your options. Then, the kit is mailed to your house or your doctor's office, you swab the inside of your cheek for a saliva sample, and you send it to Color's lab for testing. After about three to four weeks, you receive your results, along with the option to speak with a genetic counselor on the phone. (Related: Breast Cancer Is the Financial Threat No One's Talking About)

The Upsides

While it's estimated that 1 in 400 people have the BRCA1 or BRCA2 mutation, it's also estimated that more than 90 percent of the people affected have not yet been identified. That means that more people need to be tested; period. By making the test accessible at a relatively affordable price to people who might not otherwise be able to take the test, Color is helping to close that gap.

Normally, if you want to have the BRCA test done through your doctor, you need to fall into one of three categories, according to Ryan Bisson, genetic counselor at Orlando Health UF Health Cancer Center. First, if you've had breast or ovarian cancer yourself. Second, if there's a specific family history such as a relative having ovarian cancer or a close relative having breast cancer at or before age 45. Lastly, if a close family member had the test done and it came back positive, you'd also meet the criteria. Color provides an option for people who don't fall into any of those categories.

The company is also trusted by major health networks for this kind of genetic testing and under other exceptional conditions, which basically means you don't have to worry about the quality of the Color tests. "The Henry Ford Department of Medical Genetics uses Color for individuals who want testing but do not meet criteria for testing, and for women who do not want test results in their medical record," explains Mary Helen Quigg, M.D., a physician in the Department of Medical Genetics at Henry Ford Health System. Sometimes, people don't want their results on record for insurance purposes. Plus, there's the convenience factor, says Dr. Quigg. Home testing is fast and simple.

The Drawbacks

While there are definitely some great things about the at-home BRCA test, experts cite four main problems with it.

Many people have misconceptions about what genetic testing means for overall cancer risk.
Sometimes people look to genetic testing to provide more answers than it really can. "I'm totally an advocate of patients knowing their genetic information," says Bisson. But "especially from a cancer perspective, people put way too much stock in genetics. They think that all cancer is due to their genes and that if they have a genetic test, it's going to tell them everything they need to know." In reality, only about 5 to 10 percent of cancers are due to genetic mutations, so while it is important to understand your hereditary risk, getting a negative result doesn't mean you'll never get cancer. And while a positive result does indicate an increased risk, it doesn't necessarily mean you will get cancer.

When it comes to genetic testing, getting the right tests is crucial.
The BRCA test offered by Color may be too broad for some people, and too narrow for others. "BRCA 1 and 2 only account for about 25 percent of hereditary breast cancer," according to Dr. Quigg. That means only testing for those two mutations could be too specific. When Quigg and her colleagues order testing from Color, they generally order a much wider range of testing than just BRCA 1 and 2, often opting for their Hereditary Cancer Test, which analyzes 30 genes known to be associated with cancer.

Plus, the most helpful results come from customized tests. "We have about 200 different cancer-related genes," explains Bisson. "From a clinical standpoint, we design a test around what we see in your personal and family history." So sometimes, the 30-gene panel might be too specific or too broad, depending on your family history.

What's more, if a person's family member has already tested positive, a general BRCA test isn't the best option. "Think of the BRCA genes like a book," says Bisson. "If we find a mutation in one of those genes, the lab that did the test will tell us exactly which page number that mutation's on, so testing everyone else in the family usually just consists of looking at that one specific mutation or 'page number.' This is known as single-site testing, which is done by Color through a physician but isn't offered to the general public on their website.

You shouldn't need to pay out-of-pocket for genetic testing.
It's true that more people should get the BRCA test, but in the same way that the test itself should be specifically targeted, the people who get the test should come from a specific group: people who meet the criteria for testing. "Patients sometimes see the criteria as just another hoop for them to jump through, but it's really trying to target the families that are more likely to get information out of genetic testing," says Bisson.

And while the test is pretty affordable at less than $100, Color does not offer the option to have insurance pay for the standalone BRCA test. (They do offer the option to do insurance billing for some of their other tests.) If you meet the criteria for genetic testing and you have health insurance, there's no reason to pay out-of-pocket to have genetic testing for a BRCA mutation done. And if your insurance won't cover testing? "Most of the time, those are the people who won't benefit from testing. Most insurance companies use national criteria from the National Comprehensive Cancer Network, which is a group of independent physicians and experts who make up the guidelines," says Bisson. Of course, there are always exceptions, and for those people, Bisson says he would recommend a service like Color.

Genetic counseling after getting your results really is a must.
Sometimes genetic test results can result in more questions than answers. When a genetic mutation (or a change in the gene) is found, there are three ways it can be classified, according to Bisson. Benign, which means it's harmless. Pathogenic, which means it increases your risk of cancer. And a variant of unknown significance (VUS), which means there's not enough research on the mutation to draw a conclusion. "There's about a 4 to 5 percent chance of finding a VUS with BRCA testing," says Bisson. "For most patients, that's actually higher than the chance of finding a pathogenic mutation." Remember that one out of 400 stat from earlier? That means it's much more likely that without meeting criteria for testing, you might not get quality information out of it. This is one of the biggest reasons insurance companies often require that people meet with a genetic specialist or counselor before having the test done.

Color does offer genetic counseling, but it mainly occurs after the test has been conducted. To their credit, they're transparent about the fact that you really should be discussing your results with a health-care provider, but it's not required. The issue is that people usually only call for counseling when they receive a positive result, says Dr. Quigg. "Negative results and variants also need counseling so the individual understands what it means. A negative result doesn't necessarily mean there isn't a mutation. It could either mean that we just haven't found the mutation—or that it is really negative." A VUS result is a whole other bag of worms that requires specific counseling, she says.

Who Should Take the Test?

Simply put, if you have insurance and legit family history of BRCA-related cancers, you'll most likely be able to get the test through traditional channels at a low cost or no cost at all. But if you don't have insurance and you narrowly miss the criteria for testing, or if you don't want your results on your medical record, Color's BRCA test might be right for you. (No matter your personal risk, you'll want to know about this pink light device that says it can help detect breast cancer at home.) But that doesn't mean you should just go online and order it. "I recommend patients get counseled and then decide if they want home testing, with options for more appropriate follow-up counseling," says Dr. Quigg.

Bottom line: Talk to your doctor before you take the plunge. He or she can help you figure out if testing will provide information that's actually helpful and refer you to a genetic counselor. And if you do decide to go for the at-home option, your doc can talk you through your results face-to-face.

 

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