RACHEL MARTIN, HOST:
It's gotten way easier for people to get their DNA tested for health reasons. Nowadays people can get their genes scrutinized to determine whether they are carrying genetic diseases they could pass on to their kids or whether they're at risk for serious health problems like Alzheimer's or cancer. Joining us now to talk about the pros and cons of this is NPR health correspondent Rob Stein. Hi, Rob.
ROB STEIN, BYLINE: Hey, Rachel.
MARTIN: So this could obviously be a really amazing thing or a terrifying thing. Can you just start off by explaining what is wrong and what is right about making it easier for us to get this kind of information?
STEIN: Yeah. So people can get some really helpful important information through genetic testing. But this can be life-changing information sometimes, you know? Is it safe to have kids? Are they at risk for developing some terrible disease? So that raises all kinds of questions, you know, about privacy, about whether people should be getting this kind of information from a company or should they be getting it from a doctor or a genetic counselor?
MARTIN: Right. And how easy is it, actually, to get this done?
STEIN: So the company that's most aggressive out there is a company called 23andMe. And I should mention 23andMe provides some financial support for NPR. And this California company was the first company to get approval from the FDA to market a test that tells people whether they're at risk for cancer without a doctor being involved at all. And that's a huge change. And, specifically, it's a test that tells people whether they're at risk for breast cancer. So I decided to follow several women through the testing process. And I'd like to tell you the story about one of them. Her name is Rita Adele Steyn. She's 42. Originally from South Africa, she now lives in Tampa, Fla. And I called her on Skype.
(SOUNDBITE OF SKYPE CALL CONNECTING)
RITA ADELE STEYN: Hello?
STEIN: Hi. It's Rob Stein at NPR.
STEYN: Hi, Rob. How are you?
STEIN: I'm great. How are you?
STEYN: I'm alright, thank you.
STEIN: Well, it turns out Steyn just got back from helping take care of her sister in Ohio. She's going through chemo for breast cancer.
So sorry to hear that.
STEYN: Yeah. It's been tough, but it's harder for her.
STEIN: Breast cancer runs in Steyn's family. Her mom had a double mastectomy in her 40s because she had so many lumps in her breasts, and her first cousin died of breast cancer. So after her sister was diagnosed, Steyn got really worried she might be next.
STEYN: I think everyone naturally is always in two minds. Sometimes you feel like you beat the odds, and sometimes you feel like the odds are against you. And right now I feel like the odds are against me.
STEIN: So when she heard about 23andMe's new genetic test, she decided to order it. She agreed to call me back when her kit showed up in the mail.
STEYN: The whole thing is in plastic so I'm just trying to open it here. Take the plastic off. OK.
STEIN: She pulled out a small plastic tube and followed the instructions to fill it with spit. That's where the company gets the DNA to analyze.
STEYN: I think the main thing is just not to get your sample mixed up with anyone else's. (Laughter).
STEIN: Right. Don't let anybody else spit in your tube.
STEYN: Right. Right. Don't let my dog lick me before I spit in the tube. Let's see how much we get on our first go. Here. I'll spit. This is a lot of spit.
STEIN: She finally managed to fill up the tube and snap the lid closed to send it back. I didn't hear from Steyn again until about a month later, when the results were finally ready. She agreed to wait to open them until I was back on the line.
(SOUNDBITE OF SKYPE CALL CONNECTING)
STEIN: Hi. How are you?
STEYN: Hi. I'm fine, thanks. Nice to talk to you again.
STEIN: Are you nervous?
STEYN: Yeah. Yeah, I'm really nervous. So I'm quite - yeah. I'm a bit nervous. I'm a bit nervous.
STEIN: Steyn read through an explanation of what the test does and doesn't mean. It's only looking for three variants in the so-called breast cancer genes, BRCA1 and BRCA2. They sharply increase the risk for breast and ovarian cancer.
STEYN: All right. Well, shall we?
STEIN: Whenever you're ready. Are you ready?
STEYN: I think - I think I'm ready. (Laughter).
STEYN: I think I'm ready. OK. I'm going to click on it. Rob, you're in it with me here.
STEIN: After what felt like a very long pause...
STEYN: It says zero variance detected.
STEIN: Wow. So what do you think?
STEYN: I guess I feel really relieved. (Laughter). It does make me feel better. Yeah. I don't know. I guess I just feel like my chances are better now. (Laughter). You know?
STEIN: So, Rachel, you can clearly hear the relief in this woman's voice.
MARTIN: Right. So is there a problem with this, Rob?
STEIN: So the critics say the problem is that this test only looks for three mutations in the two so-called breast cancer genes, and these mutations are only common among Jewish women of Eastern European descent, and there are literally thousands of other mutations that can increase the risk for breast and ovarian cancer. Or, women could get breast cancer for some other reason. And the worry is that women who test negative on those tests might not do the things they should do like get regular mammograms or seek out more thorough genetic testing.
MARTIN: Because they think they're fine.
STEIN: They think they're fine, and then they could end up, you know, dying of cancer when they could have otherwise been saved.
MARTIN: What does the company say about these criticisms?
STEIN: So the company says it makes the test limitations crystal clear and encourages women to get advice from their doctor, or particularly from genetic counselors, and that this test can at least provide some women with some potentially useful information. And I should say the three women that I followed did all seem to get this, but Steyn also acknowledged that she felt a little less urgency to get a mammogram and to get additional testing because her test came back OK.
MARTIN: We should note also it's not just 23andMe doing this sort of thing, right?
STEIN: Yeah. There are lots of other companies out there marketing these easy, in-home tests directly to consumers. Now, all the other companies officially have to get a doctor involved. But the companies, they'll find the doctor for customers and critics say that's a concern, too, because these doctors could have a conflict of interest and that you really should sit down with your own doctor from the get go, figure out what tests you should get and have them there to explain these results, which can be confusing, to make sure you understand what they mean.
MARTIN: I imagine there are privacy concerns, too?
STEIN: The companies all say they keep their information private, but we know these days electronic information can leak out in all sorts of ways, and people could be subject to discrimination for life insurance or long-term care insurance.
MARTIN: NPR health correspondent Rob Stein. Fascinating story, Rob. Thank you so much.
STEIN: Sure. Nice to be here.
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