Is Genome Sequencing Surpassing Medical Knowledge? The cost of sequencing a human genome is plummeting, and soon many people may obtain a copy of their own. But how useful is that information to patients, especially if their genes predict untreatable, fatal diseases? Hank Greely discusses the promise and the pitfalls of genetic testing.

Is Genome Sequencing Surpassing Medical Knowledge?

Is Genome Sequencing Surpassing Medical Knowledge?

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The cost of sequencing a human genome is plummeting, and soon many people may obtain a copy of their own. But how useful is that information to patients, especially if their genes predict untreatable, fatal diseases? Hank Greely discusses the promise and the pitfalls of genetic testing.

JOE PALCA, host:

From NPR, this is SCIENCE FRIDAY. I'm Joe Palca. It cost a lot of money to sequence the first human genome. One estimate is about a half a billion dollars. But that was a decade ago, and prices are going down.

Last year at Stanford, an engineer sequenced his own genome for a comparative pittance, only $50,000, not bad. And now many scientists are saying the $1,000 genome is just around the corner. But what happens when it gets here?

Say your doctor wants to sequence a few of your genes, check up on a few things. At just $1,000, why not just sequence the whole thing and have it on hand for the future?

It might be useful, but it might also give you a lot to worry about. If your genes say you have a predisposition to an incurable disease like Alzheimer's, do you really want to know that? And who's even going to walk you through the hundreds of genes and explain what they all mean?

And how about every time a new gene is discovered? Who's going to explain what that means? Your primary care physician probably isn't a geneticist.

Would you like to get your genome sequenced, or do you prefer to wait until doctors know what to do with all that information? Give us a call. Our number is 800-989-TALK. That's 1-800-989-8255. Or you can tweet us your question @scifri, that's the @ sign at scifri.

Now let me introduce my guest. Hank Greely is the Deane F. and Kate Edelman Johnson Professor of Law at Stanford University. He's also director of the Center for Law and the Biosciences there in California. Welcome back to SCIENCE FRIDAY, Hank Greely.

Professor HENRY GREELY (Stanford University): Thank you, Joe.

PALCA: Okay. So I guess the first question is: Is this really going to happen? Are lots and lots and lots of people going to get their genomes sequenced, do you think?

Prof. GREELY: I think so. It's not entirely clear whether whole-genome sequencing will be the technology that wins out. Certainly people are going to get a lot more densely informative data about their individual genomes.

My own guess is as the sequencing, whole-genome sequencing gets cheaper and cheaper, and as the quality gets better and better, ultimately three years, five years, 10 years, we're all going to be completely sequenced.

PALCA: Right. So okay, you're a lawyer, right? Or you're a recovering lawyer.

(Soundbite of laughter)

Prof. GREELY: Recovering lawyer.

PALCA: Sometimes you describe it. Why is a lawyer worrying about this now?

Prof. GREELY: Well, I've been working on issues, ethical, legal and social issues in genomics for about, well, genomics - before we called it genomics, for 20 years, back when we just called it genetics.

And what interests me is we've got this - I think tidal wave is the best analogy - of information coming in. We're going to get swamped by it, and we're not paying attention to it.

Some of that will have straight legal implications, like who gets sued when, when something goes wrong. Some of it'll have broader implications for the structure of the health care system. Some of it'll have really interesting, deep ethical questions about, for example, your obligation to your relatives, when you find out something about yourself that might affect them.

All of these things are fascinating. I'm not sure that we know the answers to very many of them, but I do know that we're going to have to come up with answers pretty soon.

PALCA: Well, so give me an example of - I mean, so if you found something in your genome, can you imagine a day where you were legally obliged to tell your son or your parents or something like that, or your child, what this was?

Prof. GREELY: Yeah. In fact, I can. This is one of the few areas in genomics where there have actually been a couple of lawsuits, one in New Jersey, one in Florida, involving doctors who were sued by children whose parents had diseases that were genetically linked.

And the children claimed that the doctor had a duty to tell the children that their parent had this problem. One of the courts said yeah, the doctor might have that obligation involving a hereditary colon cancer syndrome.

The other court in Florida said, well, no, the doctor didn't have an obligation to tell the children, but the doctor had an obligation to tell the father that he had an obligation to tell the children.

Only two cases from only two states. I think we're a long way before knowing where the law is going to settle there. But it's not all that different than your obligations might be if you've got an infectious disease. Both your obligations and your doctor's obligations to, say, your spouse or partner get pretty significant if one partner has an infectious disease that the other spouse might catch.

PALCA: Yeah. So...

Prof. GREELY: Genetic diseases aren't infectious, exactly, but you do share your genes, not so much with your spouse, but you share them with your children, with your sibs, with your parents.

PALCA: So who is thinking about this besides, you know, a law professor at Stanford?

Prof. GREELY: Well, not enough people, I think. There is increasing interest in what we call the ELSI community - the ethical, legal and social issues community - although every time I say ELSI, I think of the Borden advertising campaigns from years ago with Elsie, the contented cow.

So there is increasing focus on this. I don't think there's enough yet, because in part, I don't think people have realized how quickly things are moving.

Steve Quake at Stanford sequenced himself last year for about $50,000. That didn't count the time of his post-docs and graduate students who helped. But this year there's a company here in Silicon Valley called Complete Genomics which will do human genome sequence for you for under $10,000. And they give volume discounts.

Whether it's a year from now or two years from now, we'll get to that talismanic $1,000 genome. And people are already being sequenced for medical purposes. That's only going to increase.

If it gets to 1,000 bucks, there are a fair number of people I live in Silicon Valley, I think Silicon Valley may have a disproportionate share of them, who will say, well, that's cool. Here's my $1,000. Give me my whole-genome sequence and tell me what it means. That's where the hard part's going to come in.

PALCA: What about the regulatory arena for all this? Who is supposed to be watching these things?

Prof. GREELY: Well, another great question. In theory, this should come under the Food and Drug Administration. Sequencing involves medical devices. Medical devices ranging from elastic bandages to MRI machines are all regulated by the FDA.

This year has seen some interesting but unclear changes there. Back in the spring the FDA intervened to try to stop a company called Pathway Genomics from selling DNA test kits at Walgreens.

That's led to a lot of uncertainty. The FDA seems likely to change its position on regulated genetic tests. Right now it doesn't do any regulation at all to speak of of genetic tests. How it's going to change it remains completely unclear.

PALCA: Okay. Let's go to our listeners now. If you want to join the conversation, the number is 1-800-989-8255. That's 1-800-989-TALK. And let's go to Willy(ph) in Berkeley, California. Willy, welcome to SCIENCE FRIDAY. You're on the air.

WILLY (Caller): Hi, yeah, thanks for having me on the air. I was listening to your conversation, and I thought, well, you know, both my parents died of cancer. I'm probably going to die of cancer. I take pretty good care of myself.

But it seems like cancer strikes you no matter how well you take care of yourself. So I think the idea that I would know - if someone sequenced my genome, and I would know exactly which cancer I might be most susceptible to or might, you know, be likely to get, then I'd be more likely to be able to target a therapy if they're developing that.

And, you know, that could save me much more than trying to this vague idea that someday I'll die of cancer and I should take care better of myself.

So I love the idea of it. I haven't thought through all the potential negative repercussions. But I can't think of anything that would outweigh the idea that I might survive.

Prof. GREELY: Yeah.

PALCA: Well, what about that, Hank Greely? What can you help Willy with any of the negatives?

Prof. GREELY: Well, I always think that any lawyer asked a question should always start his answer with it depends.

(Soundbite of laughter)

Prof. GREELY: Because it depends on the cancer and the genetic link. For some cancers, I think genetic analysis can be very helpful. Colon cancer, colorectal cancer, is one of the four leading causes of cancer death in the U.S. About five to 10 percent of people who get colorectal cancer have a strong family genetic predisposition to it.

There's a particular condition called hereditary nonpolyposis colon cancer that is powerfully transmitted from parent to child. If your parent had it, you've got about a 50 percent chance of having the gene and a very high chance of developing colorectal cancer.

But the great thing about knowing that is there are things you can do. You can get colonoscopies. You can have, at some stage, prophylactic surgery as an option. There are a bunch of things that are really effective at keeping you from dying of colorectal cancer.

There are other cancers that we can predict to some extent, but there aren't really good interventions. So yeah, if there's something that will tell me I'm at a high risk for a disease that I can do something useful about, that's really good information. That's something that a lot of people will want and should want to get.

If it's something that tells you you're highly likely to get a disease that we can't do anything about, then I think it becomes a much more personal issue. Some people like to know. Some people think they want to know that information. Some people think they don't want to know that information.

So a lot turns on how useful, how medically useful, or how useful in planning your life the genetic information will be.

PALCA: Okay, thanks for that. Let's go now to Scott in Salt Lake City, Utah. Scott, welcome to SCIENCE FRIDAY.

SCOTT (Caller): Thank you for taking my call.

PALCA: Sure.

SCOTT: My question was on the insurance side and health care side, if the insurance companies would use this to require us to get a genome sequence, so they would know if they need to cover us or not, or if they would...

PALCA: Yeah.

SCOTT: ...(unintelligible) at all.

PALCA: Right. So that they would say we - you know, we want to know all the risks even if you don't because we're paying to insure you. That's an interesting question.

SCOTT: Exactly.

PALCA: What about that, Hank Greely?

Prof. GREELY: Well, there's some good news about that. Right now they can't require such a test and they - and even more importantly, they can't use it to make a decision about whether to insure you or not. Last year - two years ago, after 13 years of effort, Congress passed and the president signed the Genetic Information Non-Discrimination Act, which we call GINA for short. And GINA makes it illegal for a health insurer to use genetic information against you or for an employer to use genetic information against you.

Now, that's not a perfect protection. It doesn't cover life insurance. It doesn't cover disability insurance, or what may become increasingly important, long-term care insurance. And even more, even though it makes it illegal, the fact that discrimination is illegal doesn't mean it's going to completely go away. But it does give us a lot more confidence that the insurance - the health insurance industry won't be using genetics in ways that harm you.

And again, getting back to the earlier person's question, Willie(ph) from Berkeley, there are some respects in which if the insurance industry pays for your sequence and learns something that might lead to a better treatment for you, that may actually help your health. So the insurance companies won't necessarily be bad guys here, and GINA makes it much less likely that they'll be able to use this information against you.

PALCA: All right. Thanks for that. Let's now go to Chuck in Anchorage, Alaska. Chuck, welcome to SCIENCE FRIDAY. You're on the air.

CHUCK (Caller): Oh, thank you. I'm a fisheries biologist by trade who has a personal philosophy that you shouldn't peek at the sex of your child because nature is such an amazing thing. There should be surprises. So I wouldn't want to peek at my genome, even though 20 years ago I had Hodgkin's disease.

PALCA: Mm-hmm. Well, I was thinking - so let me ask Hank Greely and you, Chuck, if I can pose a scenario. So let's say - I don't know if you have children or not. But let's say your child wants to be tested for something that they might be that they're worried about or they're having children or something, and the geneticist says to the - your child, we need to have your father's sequence in order to make sense of this data, because a lot of times that's necessary. Well, you would say yes to them or you would say no to them or you would want the law to decide that question?

CHUCK: No, I wouldn't want the law to decide. But if it was my child's wishes and they're adult and that's something that they want to know for their own personal right, well, then I would go with it. But I wouldn't make it my own personal focus.

PALCA: Right.

CHUCK: So I would help them to make their further decisions. But I wouldn't impose, you know, my personal philosophies on them.

PALCA: Right, right.

Prof. GREELY: And we could actually help Chuck out a little bit there because in theory, at least, you could have Chuck's genetic information used to help understand the child's situation without then telling Chuck about his own genetic information. We do this occasionally where there are efforts to - in prenatal testing - to tell the parents something about whether the fetus is carrying a disease or not, without necessarily telling the parent whether she's carrying the disease or not. Sometimes she can do that, that preserves your right not to know while still helping the child with information from you.

PALCA: Interesting. We're talking with Hank Greely of Stanford University about the perils and promise of genetic testing.

I'm Joe Palca, and this is SCIENCE FRIDAY from NPR.

So where do you see the next - I mean, what's the very next thing that's going to happen in this arena? Certainly the technology is moving ahead with amazing rapidity. Is there something going forward in the legal arena?

Prof. GREELY: I don't see anything - well, it's hard to tell what's happening with the FDA. I think the FDA is likely to increase the regulation of genetic testing, but how much they'll increase it, in what directions, remains unclear, and whether Congress will then get involved remains unclear.

Outside the legal side, I think first, assuming the FDA doesn't clamp down on it, we're likely to see some companies start offering direct to consumer whole genome sequence information. There are companies out there now - 23andMe, Navigenics, deCODEme - that are offering some genetic information,n but based on a technology called SNIP(ph) chips, or single nucleotide polymorphism chips, they give you 600,000 data points or a million data points, which is a lot, but our genomes our 6.8 billion data points.

We're going to see that offered in a way that, at $1,000 a person, people are going to take advantage of. There's currently a company offering it but for around $100,000 a person, so theres not a lot of takers yet. I think that'll be the next thing we'll see. And then the real problem is going to be making sense of all that.

So we both mentioned earlier Steve Quake, the Stanford bioengineer who sequenced himself last year. I was part of a project here at Stanford that decided to look at Steve's sequence and see what we could tell him about himself medically. The first thing we learned was that this was really hard work. There are no perfect databases or even close to perfect databases to tell you what all the sequence means. We've probably put in several thousand person hours of skilled labor trying to figure it out.

Second thing we learned is there are a lot of things in your whole sequence. Now, Steve didn't have a lot of enormously frightening things, although he does have a higher risk of - a genetically higher risk of sudden cardiac death, which is a little disconcerting.

PALCA: Mm-hmm.

Prof. GREELY: But we concluded there were about a hundred things in his genome he probably should know something about. That then leads to the question, if it takes, say, three minutes per thing on average to explain something, that's five hours of genetic counseling. Who's going to sit through that? Who's going to be able to talk for that long? Who's going to pay for it? And right now we don't have a clue.

So today, if you're doing focus testing let's say you're a woman getting tested for BRCA1 or BRCA2 mutations with respect to breast or ovarian cancer, it's a small number of genes, a small number of questions to answer, a limited number of amount of information. But if we test the whole genome, we're all going to have interesting things: some of them scary, some of them not scary; some of them useful, some of them useless. And how we're going to convey that information to the patient, and how we're going to convey it to the doctors who don't know that much about genetics yet, that's going to be a huge challenge.

PALCA: Exactly. Well, thanks for outlining some of those problems then. Thanks for joining us today.

Prof. GREELY: My pleasure, Joe.

PALCA: Hank Greely is with Deane F. and Kate Edelman Johnson Professor of Law at Stanford University. He's also the director of the Center for Law and the Biosciences there in California.

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