FDA Is Back On Board With A Breast Cancer Test
In 2013, the Food and Drug Administration prohibited the consumer genetic testing company 23andMe from marketing a test for breast cancer mutations and drug sensitivity. Now, the FDA has changed its mind, granting 23andMe permission to screen for three mutations in the BRCA1 and BRCA2 genes, which increase breast cancer risk.
The move democratizes patients’ access to personal genetic information, but there are plenty of reasons for concern, too. For example, there are more than 1,000 known mutations in BRCA genes—this test detects only three. Additionally, women who receive positive tests might decide to have unnecessary tests or surgeries based on preliminary, limited results. And testing negative for all three variants doesn’t necessarily mean a patient is risk-free.
In this interview, Emily Mullin of MIT Technology Review runs down the pros and cons of the test, and talks about what’s next for personal genetic testing.
Emily Mullin is Associate Editor for Biomedicine at MIT Technology Review in Washington, D.C.
IRA FLATOW: And now it’s time to play good thing, bad thing.
Because every story has a flip side. Five years ago the Food and Drug Administration sent the genetic testing company 23andMe sent them a warning letter. Stop marketing your personal genome test, they said. Stop telling your customers about their breast cancer risk, their drug reactions, and so on. The reason? What if the results from that mailed-in saliva sample were wrong? Patients might get unnecessary surgery or think they don’t have a cancer, risk when they really do.
Well, now the FDA has finished reviewing data from the company and has changed its mind, reversed its decision, and freeing the company to tell customers about whether they have the breast cancer BRCA gene mutations. Here to tell us the good and the bad is Emily Mullin. She’s associate editor for biomedicine at MIT Technology Review. And we love MIT Technology Review here at Science Friday. She joins us via Skype. Welcome.
EMILY MULLIN: Thanks so much for having me.
IRA FLATOW: So give us the good news here.
EMILY MULLIN: So the good news here is that this test reports on three mutations in the BRCA1 and BRCA2 genes, which are associated with a high risk of developing breast and ovarian cancer. And these three particular mutations are most common in people of Ashkenazi Jewish heritage. About one in 40 people of this heritage has one of these three variants. I think probably the biggest benefit of this test is also its biggest drawback. And that’s the fact that you don’t have to visit a doctor for this test. This is going to be an additional result that’s available to customers under 23andMe’s existing health and ancestry test, which costs about $199, actually exactly $199.
IRA FLATOW: Mm-hm. So you say that is the good news and the bad news. So what’s the news about?
EMILY MULLIN: Yes. So the bad news, there’s a big caveat here. And that is that there are 1,000, or more, known mutations found on the BRCA genes. And the three variants that 23andMe test for are not the most common ones in the general population. So what that means is a negative result for these three mutations reported by 23andMe is not a negative result for all BRCA mutations. In other words, if you test negative for these three mutations, it doesn’t rule out a higher risk for cancer.
So one worry is that a negative result could give people a false sense of security that they don’t have an increased risk of cancer. And there’s another concern that women, who test positive, might go out and have unnecessary screening tests. And more alarmingly, they could end up getting mastectomies or even having their ovaries removed in the hopes that they’ll prevent breast or ovarian cancer.
We actually saw something like this happen before. So you’ll probably remember that a few years ago, Angelina Jolie went public about how she got a preventive double mastectomy after testing positive for a BRCA mutation. And what happened after that was sort of this Angelina Jolie effect. More women went out and started getting tested for the BRCA gene. And more women are starting to get preventive mastectomies. That’s a really big personal choice that probably shouldn’t be hinged just on this 23andMe test.
IRA FLATOW: Yeah, because I remember when we started talking about gene testing way back in the day. We said, there’s going to be a problem if you get a test result and you don’t know how to interpret it. You should either be offered a doctor or a professional care or you should go out and seek some guidance on this.
EMILY MULLIN Right. And that’s the concern, I think, with this new 23andMe test result. When you go to your doctor to get a genetic test, somebody, whether it’s your doctor or a nurse or a genetics counselor, is going to sit down with you to tell you what those results mean. Now, the FDA, as you mentioned, is definitely softening to the idea of these at-home genetic health risk tests. But what the FDA is requiring is that companies communicate results in a way that consumers can understand and use.
IRA FLATOW: Emily, thank you very, very much for taking the time to be with us today. Emily Mullin.
EMILY MULLIN: Thank you so much.
IRA FLATOW: Associate editor for biomedicine at the MIT Technology Review.