Protections Needed in Genetic Testing, Experts Say Genetics policy experts are voicing concern over the lack of basic protections to ensure the validity of genetic tests before they go to market. The authors of a critical analysis published in Science talk about what is needed to make testing safe and dependable.
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Protections Needed in Genetic Testing, Experts Say

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Protections Needed in Genetic Testing, Experts Say

Protections Needed in Genetic Testing, Experts Say

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You're listening to TALK OF THE NATION: SCIENCE FRIDAY. I'm Ira Flatow.

A bit later in the hour, the oldest recorded song and the history of the French inventor who did it. But up next, if you could take a test that would tell you whether you carry genes that predispose you to cancer, diabetes, age-related blindness, would you?

More tests than ever before are becoming available to consumers. Sometimes, they come directly to you without a doctor being involved. And in addition to the tests that screened for just one or two conditions, some companies are offering whole genome scans, detailing risks for a number of genetic conditions. Now, is this a good idea?

Some experts are saying no, especially the do-it-yourself tests that leave you with sometimes confusing results, but nobody to help you make sense of those results. Plus, there's no way to know whether a special test is accurate, one particular test, how many tests, there are different makers, which one should I take since many of them are not regulated the way, let's say, prescription drugs are.

So, we're going to be talking about this growing world of home genetic testing, what it promises to do, what it's delivered on so far. We'll talk about ideas about how to do it correctly, what safeguards need to be in place to protect consumers, how and when if should you get your doctor, your physician involved. What kind of counseling should you do?

If you've got some ideas you'd like to share with us, please. Our number: 1-800-989-8255, 1-800-989-TALK. Also, you can surf over to our Web site where you can click on the "Second Life" icon, and get to taking into talk with some avatars and leave us questions that way.

Let me introduce my guests. Kathy Hudson is the director of the Genetics and Public Policy Center of Johns Hopkins University. She joins us today from her office.

Welcome back to the program, Dr. Hudson.

Dr. KATHY HUDSON (Director, Genetics and Public Policy Center of Johns Hopkins University): Thanks. Glad to be here.

CONAN: You're welcome. Dr. Kenneth Offit is chief of the Clinical Genetic Service at Memorial Sloan-Kettering Cancer Center here in New York. He joins us by phone from his office. Welcome back to the program, Dr. Offit.

Dr. KENNETH OFFIT (Chief of Clinical Genetic Service, Memorial Sloan-Kettering Cancer Center): Ira, nice to talk with you again.

FLATOW: Let me begin with - let me throw this out, this cafeteria question to both of you. Is this - I mentioned it's not a new problem. Why is it becoming such a bigger problem? Is it because more and more of these tests are coming online?

Dr. OFFIT: Well…

FLATOW: Dr. Offit, go ahead.

Dr. OFFIT: Yeah, I know, I think that clearly, the markets here are coming into play, and we've seen in the last year several commercial entities come into existence - commercial for-profit entities that are marketing their services to the consumer directly, right directly to you and your home, providing a test that can be done with a little bit of a swab from your mouth, and then to give you predictive information about your health, and in some cases, about everything from what food you should eat to what medicines you should take.

FLATOW: Mm-hmm.

Dr. OFFIT: So, this is a new development.

FLATOW: And what's wrong with that? What's wrong with me taking one of these genetic tests? I - you know, people are used to taking, you know, pregnancy tests, right - the sort of a new-age thing? Why should I be fearful of taking any of these genetic tests?

Dr. HUDSON: One of the reasons is that in the case of pregnancy test, those tests are actually reviewed and validated by the Food and Drug Administration before they are allowed to be sold over-the-counter now to consumers. And that's been a great thing. So I think with genetic tests as well, if the tests are accurate, if they're reliable, if the claims that are made about those tests, you know, are supported by the evidence, then there may be - some of these tests may be of great benefit when offered directly to consumers.

For example, if there were genetic tests that would tell me whether or not an over-the-counter drug would work better or not so well or have an adverse drug reaction in me, then it seems logical that I should be able to get that test directly.

Currently, there's no assurance that tests are accurate and reliable and that the claims are valid, and thus there's a good reason to be cautious.

FLATOW: Why are there no watchdogs on it?

Dr. HUDSON: You know, part of the reason is because this is an - a really rapidly growing new field.

FLATOW: Mm-hmm.

Dr. HUDSON: The regulations that do exist are of fairly low bar, where the laboratory has to show that it - you know, its refrigerator is running and it's keeping its counters clean, but it doesn't actually have to show that it can get the right answer for the test, nor does it need to show that that test result has any clinical or health-related significance.

FLATOW: Mm-hmm.

Dr. HUDSON: And then, finally, there is nobody who's paying close attention to whether or not the scientific evidence comports with the claims that are being made. So, there's opportunities for consumers both for their health to be impacted as well as…

FLATOW: Right.

Dr. HUDSON: …their pocketbook.

FLATOW: Ken Offit, let me just paraphrase a commercial that we see on a tax time. If you have troubles about your tax questions and you got - and you're doing a tax program out of a box, and one of the persons in the commercial says, well, ask the box for help, you know, if you're confused about what's happening.

I would imagine the same thing is happening with these tests, that you take them home and there's no one to talk to about.

Dr. OFFIT: Well, you know, what we're beginning to see here at Sloan-Kettering, where we have the clinics all week-long for doing what we call conventional genetic testing for these genes associated with real cancer risks, we're now beginning to see, just as you say, Ira, folks coming in with some of these reports, and they're saying, well, what do I make of this? Is this 21.2 risk for breast cancer? How does that compare to the 40 times risk that the - you know, you guys are talking about?

And what we're doing is we're kind of doing retroactively, we're doing the, what they call it, counseling, we're doing basically damage control in some cases because the information that's coming from these tests is coming, as Kathy says, essentially, in a not standardized or regulated way.

So, their version of coming - consulting the box is now often coming back to us.

FLATOW: Can physicians do these tests and have the laboratories that they know they - to depend on?

Dr. HUDSON: You know, there's a number of tests that have been out there in the marketplace for a considerable period of time and have been well validated. And you know, the review of that evidence shows that that those tests are valid and have great clinical utility. They're beneficial for patients.

And so those tests do exist. What we're seeing now in part as new results of the fruits of the human genome project, and in combination with a low barrier to market entry is that sort of - people are offering tests before they're quite ready.

Dr. OFFIT: Ira, you know, we spoke about this on your show a couple of weeks ago in the context of the discovery we made of a breast cancer marker that increased risk 1.2 times, and we spent time for those of your listeners who heard, to distinguish that type of research test from the clinical tests that I give in my clinic, where we're talking about a 40 times risk. And as Kathy said, we now spent a decade bringing in genetics to the practice of preventive medicine.

We're very proud of what we have accomplished so far. We now do tests in my field for cancers of the colon, of the breast, of the ovaries, and we're giving individuals this information, they're taking preventive action, and some cases, preventive surgeries. We now have the first evidence that lives have been saved.

This is a very different, though, type of genetic testing, than this genomic testing, this whole genome testing that you refer to, where the risks by and large never get more than that 1.2 to 1.3. And keeping these numbers in mind is not obvious, is not easy, but that's ultimately what we're talking about here. How do you really handle that level of risk? Is that going to be useful in fashioning a preventive strategy? Those are research questions.

FLATOW: Mm-hmm.

Dr. HUDSON: It will also be interesting, Ken, to see what happens, you know, as more and more consumers are using these tests and showing up in your office, and other doctor's offices, and perhaps requesting additional screening, additional counseling, and what kind of burden that's going to place on the healthcare system for tests and surveillance that would otherwise not be necessary.

Dr. OFFIT: So Kathy is referring to here and we should just call it what it is. What we're talking about here is my concern as a physician and her concern as a leader in policy about, really, we're talking about safety here. We're talking about consumer safety. And safety in this area does come into play two ways: by giving somebody a false warning which can lead to an unnecessary test, which is what Kathy just mentioned, and, you know, tests as we know - if you're a woman having a biopsy, if you're a man having a prostate biopsy, if you've just had a colonoscopy, you know what…

FLATOW: Mm-hmm.

Dr. OFFIT: …I'm talking about. You know, these are medical procedures. These are interventions that one goes to that have some risk, and also, or, you know, some cost.

On the other hand, there's the safety concern about false reassurance. And I've been reading some of these, these articles about individuals having these tests and leaving incredibly reassured, they pay their thousand dollars, but I'm very worried that someone actually talked to these individuals about their family history, and did somebody say to them, you know, these are the known factors that have been excluded.

FLATOW: Now, let's go the phone to Chris(ph) in Syracuse. Hi, Chris.

CHRIS (Caller): Hi. Hey, thanks for you and the rest of NPR being there, by the way. My comment is just that, you know, this research type of stuff is valuable information, and in the information age, we should let it be free, and we should be able to adapt, you know, to being able to use it.

So, you know, whatever it takes to have people, you know, have access to this would be important, like disclaimering it, making sure that, you know, as someones getting a test - they are given a statement that, you know, you should consult your doctor. But, you know, it helps people in ways that they might have already been thinking about, you know, like, if they have other symptoms or something like that, or their family history. They can be, you know, getting a test then - and help themselves be more prepared.

FLATOW: So you'd go and ask your doctor if you're interested, later on, you're saying…

CHRIS: Oh, yeah, I mean…

FLATOW: …and don't deny me the information. I'm an adult, I know how to use it, or I'll find a way to use it correctly.

CHRIS: Yeah, and I mean, sure, there would be some negatives, you know? Some people wouldn't have adapted to that but, I think, the lesson of the information age is that we can take this power - it's a natural power, you know, the world is based on information. Life itself is based on information. And, you know…

FLATOW: All right, all right…

CHRIS: …be careful of it. And then…

FLATOW: Yeah. Let me get a reaction, it's good point. Kathy, how would you answer that?

Dr. HUDSON: Well, I agree that for much of the genetic tests that will become available, we want to have consumers and research participants have access to that information. But they should also know how certain that information is.

They should have access to what are the performance characteristics of the tests, what's the evidence that supports it. And right now, that information is not particularly obvious for some of the companies that are offering tests, particularly directly to consumers.

You don't know what the variance is that's being tested for. You don't know what the - you know, how well that test performs. You don't how many false negatives are - there are. So there - I think, information is good as long as it's complete and accurate.

FLATOW: Right.

Dr. HUDSON: False information is a bad thing.

FLATOW: So both of you in here, you're not arguing against the testing. You're arguing for some regulation and standardization.

Dr. OFFIT: Well, yeah. I don't think that either one of us would disagree with the notion that five, maybe, 10 years from now, this testing will be absolutely universal. I envision that you'll get this in your doctor's office and it'll be cheap and available and accessible.

I think the comparison of the information - I think of it like, you know, my kid writing a term paper and going on the Internet. They're teaching them in school and, you know, doing the proverbial Google search. A lot of what you see on the Internet, which is unvetted and unregulated - it's information, but is it true information?

And what we would like to think about is this is sort of - you know, your life is your term paper, and if you're going to take a preventive medical intervention - and people act on this information; all of our studies have shown that people do take action - you want that information to be vetted and to be accurate, scientifically accurate information. There's a concern about widespread dissemination of this information before then.

FLATOW: We're talking about genetic testing this hour on TALK OF THE NATION: SCIENCE FRIDAY from NPR News. I'm Ira Flatow with Ken Offit and Kathy Hudson.

In a short period of time, I mean, I would almost - it looks at - looks to me, it's like where we are with, you know, ordering drugs on the Internet. You need to pig in a poke whether you're going to get the prescription from some unknown drug company.

Would that be a fair comparison, Kathy?

Dr. HUDSON: Not quite because even the drugs that are being sold over the Internet are drugs where they have been reviewed or approved by the Food and Drug Administration, and where the FDA has a big stick with which to bop, companies who make false and misleading claims about those drugs, whether they use that, you know, as well as they could is questionable. But they have that ability.

Right now, there's sort of nobody watching over whether or not these tests are proven before they enter the market, and whether or not the statements that are made about the companies who are selling them have any support behind them at all.

FLATOW: One other question from a number of people in "Second Life" is a question about needing laws to protect people from job discrimination based on these tests or denial of health insurance or the information from these tests being leaked out, you know?

Dr. HUDSON: You know, it's - we have had legislation pending in the U.S. Congress for a decade now, the Genetic Information Nondiscrimination Act. And currently, there's a hold by a particular senator on that legislation moving through the Senate. And the House has passed it, the Senate has passed it in previous sessions, and so we await that passage…

FLATOW: Who's got the hold on it?

Dr. HUDSON: Senator Coburn.

FLATOW: Mm-hmm. And so, you think that this could be settled with the right kind of legislation?

Dr. HUDSON: Absolutely. The concern about health insurance and employment discrimination could be solved. The concern about the safety and accuracy of the tests require some real leadership from the Department of Health and Human Services here.

Dr. OFFIT: But to follow, Ira, you know, even in this, you know, unprotected situation as it were that we have now without the federal legislation, We've been testing here at Sloan-Kettering for the past decade thousands, I think, we're now coming up to 10,000 families. And we've got thousands of individuals with these very risk-associated genetic markers.

And the insurance industry - the ones who we're the most worried about, you know, Kathy and I and others 10 years ago has - they've actually gone the other way. They're paying for all of this testing. They're not getting the results of the testing. They're paying for surgeries in my clinic, and they've - I, evidently, very strongly made this decision that this ounce of prevention is a good idea, and that they should be frankly applauded for that. And that's put us in a situation where I absolutely feel that federal legislation is very important.

But, fortunately, there is no clear and present risk in the cancer genetic field for any of this information having - being abused. At least it has not been to date.

Dr. HUDSON: And do you have a law in New York that prevents it being used in the health insurance sector? And that may be part reason why…

Dr. OFFIT: That's interesting, actually. New York, we have very strict confidentiality laws, stricter than most. And in New York, we actually don't have a strong anti-discrimination law as exists, for example, in New Jersey.

So even in the absence of that, I think this is a fundamental decision that the health insurance industry has made certainly in the realm of the common cancers that they just simply are not going there. And I don't foresee this as being a major risk for common cancer testing.

But that's not to say as, I think, a Times reporter said that this is not in the public conscious mind. People do think there's an - in a very, kind of, ironic and unfortunate way perhaps, that information may send people to these direct consumer companies because they are afraid of something that may actually not be on the great radar screen of dangers.

FLATOW: All right. Let me - we've run out of time. I'd like to thank both of you, Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University in Washington; Ken Offit, chief of the Clinical Genetic Service at Memorial Sloan-Kettering Cancer Center here in New York.

Thank you both for taking time to be with us today and good luck to you.

Dr. HUDSON: You're welcome.

FLATOW: You're welcome.

Dr. OFFIT: Thanks.

FLATOW: We're going to take a short break and when we come back, we're going to talk about - you maybe you've heard that sound recording, the French sound recording that predates Thomas Edison but maybe don't know very much about the inventor who did it. Interesting section of history and time - we'll come back and talk right about it. Stay with us.

I'm Ira Flatow. This is TALK OF THE NATION: SCIENCE FRIDAY from NPR News.

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