Screening Tests For Breast Cancer Genes Just Got Cheaper

Apr 22, 2015
Originally published on April 27, 2015 12:21 am

A new California company announced Monday it is offering a much cheaper and easier way for women to get tested for genetic mutations that increase their risk for breast and ovarian cancer.

Color Genomics of Burlingame, Calif., has begun selling a $249 test that it says can accurately analyze a saliva sample for mutations in the breast cancer genes BRCA1 and BRCA2, as well as check for 17 other genetic variants that have been associated with a somewhat increased risk for cancer of the breast or ovaries.

"Color's goal is to democratize access to genetic testing, starting with breast and ovarian cancer risk testing," says Elad Gil, one of the company's co-founders.

But the announcement has sparked mixed reactions, with some scientists and patient advocates praising the option of cheaper genetic testing, while others say it might not be useful, and could be harmful.

Until now, such testing has typically cost thousands of dollars. Gil says his company slashed the cost in a variety of ways, including using the latest technology to automate much of the process. The firm also recruited software engineers from leading companies, including Google and Twitter, to develop computer programs that streamline the analysis. In addition, Gil tells Shots, the company saves money by making the price so low that women don't need to get their insurance companies involved.

Test-kit-in-a-box, from Color Genomics.
Color Genomics

People interested in taking the test can either ask their doctor to order it for them or can contact the company directly through its website, so that Color Genomics can arrange for a physician to place the order. A test kit containing a small plastic tube will then arrive in the mail; the patient just spits into the tube and mails it back to the company, which then analyzes the DNA from cells in the saliva.

The company validated the accuracy of its test in a variety of ways, Gil says, including using it to analyze about 500 samples provided by leading breast cancer researchers. Color Genomics published the results on its website and plans to submit them to a peer-reviewed journal, Gil says.

The announcement produced mixed reactions. Some researchers welcome the new test as a way for more women to get tested. Currently, only women with a family history of cancer of the breast or ovaries are routinely urged to get a BRCA test, and typically only these women can get their insurance company to pay for it. But Mary-Claire King, a University of Washington geneticist who discovered BRCA1, says many more women carry one of the mutations in BRCA1 and BRCA2 that significantly increase their risk for cancer.

"We need to be able to offer all women the opportunity to be sequenced for BRCA1 and BRCA2 — and, indeed, their sister genes — when a woman is young enough to make a plan if [it turns out] she does have the misfortune of having a mutation," says King, who is an unpaid advisor to the Color Genomics.

Still, some other geneticists, cancer researchers and women's health advocates are alarmed by the new test. They question whether the results have been studied enough to provide women with reliable information. The test, they say, may produce ambiguous or misleading results that frighten women into taking drastic action that may be unnecessary, such as getting mastectomies or having their ovaries removed

"I worry it will give women information that we really don't know what it means — and that women will make very difficult choices that turn out to be incorrect," says Frances Visco of the National Breast Cancer Coalition.

"If we have more women who believe they are at increased risk," Visco says, "we will have more women removing healthy body parts. We really do not have enough information to base this kind of expansion of this kind of testing."

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A California company announced today that it's offering women a much cheaper way to find out if they're at risk for breast and ovarian cancer. The company and some cancer experts say the test will help many more women gauge their risk. But other experts and women's health advocates worry it may unnecessarily frighten and confuse women. NPR's health correspondent Rob Stein joins us now to sort through this, and, Rob, let's talk about the test. It's being offered by a company called Color Genomics. It costs $249. How does it work?

ROB STEIN, BYLINE: Well, the company's designed this test to make it as easy as possible for women to get tested. Basically, all she has to do is have her doctor order the test or go to the company's website and they'll hook her up with a doctor who will order it for her. Then she'll get a kit in the mail with a little plastic tube. She spits into it and mails it back. And then the company will analyze the DNA in cells that are floating around in her saliva. And within maybe four to eight weeks, the results will be sent to her doctor, all for, as you said, $249.

BLOCK: And, as we mentioned, that is a lot cheaper than these genetic tests would currently cost.

STEIN: Oh, yeah, It's way, way cheaper. And the company says they've been able to do this several different ways. One is by using the latest technology they've been able to automate the analysis in ways that were never been done before. They've also hired a bunch of top software engineers from companies like Google and Twitter. They've come up with a computer program that also helps. And also they've made it so cheap that the insurance companies don't have to get involved. And that saves money as well.

BLOCK: And what exactly are they testing for?

STEIN: Yeah, so they're testing for mutations in two genes that a lot of people have probably heard about. They're the so-called breast cancer genes - BRCA1 and BRCA2 - but they're also testing for mutations in 17 other genes that have been associated with an increased risk for ovarian cancer and breast cancer.

BLOCK: And as we indicated, there has been a split reaction to this news of this new test.

STEIN: Yeah, it's been really mixed. On the one hand, for example, I spoke to Mary-Claire King. She's a very well-known, highly respected geneticist at the University of Washington. She actually discovered one of the breast cancer genes - BRCA1. She's an unpaid adviser to the company, and she's thrilled. She thinks that this will make it a lot easier for a lot more women to get tested for these mutations, which she thinks is really important. There are - right now, the only women who are routinely urged to get tested are women who come from families with a history of breast cancer or ovarian cancer. And they're the only women who could really get it paid for by their insurance companies. And she says there are a lot more women walking around out there with these mutations who have no idea that they're at increased risks and really could benefit from knowing that information.

BLOCK: On the other hand, what about the experts and health care advocates who say this would be confusing, frightening women?

STEIN: Yeah, I spoke to several of them today, and they're really worried about this. They think it could end up doing a lot more harm than good, and here's why - the results could end up being really ambiguous or vague and confusing to women. They won't know what to do with all this information. And, you know, it's also important to remember that just because you have one of these mutations doesn't mean you're necessarily going to get breast cancer or ovarian cancer. But women could end up doing something really drastic like having a double mastectomy or having their ovaries removed.

BLOCK: And what does the company say about that?

STEIN: They say they're trying to be really careful; that women have a right to this information if they want it. And they're making sure that a doctor is involved and they're also offering women free genetic testing to make sure they understand the results.

BLOCK: And briefly, Rob, any concern about the accuracy of this saliva test?

STEIN: Well, that is another question. The company says that they've tested it thoroughly, and it's highly accurate. And they've published that information on their website and they plan to submit that to a scientific journal to get it published as well.

BLOCK: OK. NPR health correspondent Rob Stein. Rob, thanks.

STEIN: Oh, sure, nice to be here. Transcript provided by NPR, Copyright NPR.