READ FULL TRANSCRIPT
HEFFNER: I’m Alexander Hefner, your host on The Open Mind. Today, we consider the human genome, eugenics, the story of science with the author of “She Has Her Mother’s Laugh: The Powers, Perversions and Potential of Heredity.” Carl Zimmer has authored 13 books about science and is the New York Times “Matter” columnist on which he explores the stuff of everything scientific discovery and inquiry. Zimmer’s writing has earned a number of awards including the 2016 Stephen Jay Gould prize and a 2017 Online Journalism Award for his series of articles in which he explored his genome. A professor at Yale University, Zimmer is a familiar voice on programs like Radio Lab and we welcome him here today. Thank you for joining us today.
ZIMMER: Thanks for having me.
HEFFNER: Carl, you describe a concept which I wanted you to introduce to our viewers from the outset of environmental inheritance. What does that mean?
ZIMMER: Well, in the book I talk about different kinds of heredity and we tend to think of her today just as DNA and certainly DNA is important, but we inherit all sorts of other things from our ancestors, you know, the people who came before us and gave us many things, not just their genes and part of what we inherit is the environment around us. Our ancestors have altered our planet in incredibly dramatic ways from, you know, the climate, which they have altered with carbon dioxide to transforming the land with agriculture and cities. So we inherit many things and they frame our lives just as much as inheriting a particular gene would.
HEFFNER: What are we most missing in society today when it comes to having a sufficiently profound workable understanding of heredity?
ZIMMER: Well, I think we tend to think about genes in maybe in the way we learned about them in high school. So we learned about Gregor Mendel. We learned that you might have one gene that encodes one trait and it’s a very simple kind of pattern and you know, I’d say Mendel is a great place to start learning about genes, but it’s a really bad place to stop because the fact is that most of the traits that we really are interested in are actually controlled by hundreds or thousands of different genes together. And also those traits are really strongly influenced by the environment and it’s actually how the genes are working in an environment that says a lot about how those traits are going to end up. And that can be anything from our risks of developing certain diseases to just how tall we ended up,
HEFFNER: What percent of genes are known in terms of having a very concrete and definitive understanding of how they’re operating.
ZIMMER: Surprisingly few. We have about 20,000 genes that code proteins and of those I’d say the really well studied ones are only about 2000. They’re actually over 5,000 of our protein coding genes that have never been the subject of a focused study. So for the most part, our genome is still quite a mysterious wilderness
HEFFNER: And why have you, you write in the book and note that there has been a monopoly of certain genes and some are underexplored or unexplored altogether. Why is that?
ZIMMER: Well, you know, in the history of genetics, certain genes really stood out. Maybe they caused a really dramatic disease like Huntington’s disease or maybe they were just relatively easy to study and so in the 1900s scientists would focus on one gene and just build a career out of it and then train graduate students and they had all these tools for studying that one gene. And you know, if you’re a new scientists, do you want to stake out on your own and try to take on a totally new gene and not know if you’re going to get any good results or do you take all the tools that already exist and try to advance what somebody else has done. It turns out that a lot of scientists, because of the way that science is funded and the way the reward system works, they tend to go with the genes that we already know pretty well, so it’s. It’s a real problem and we really need to encourage more risk taking.
HEFFNER: The incentives that you described, correlations of the genes with certain proclivities. Is that really the ones that we fundamentally understand today or have been studied today, is that because they are further embellishments of that investigation of a gene and its correlation to cancer for instance, or no, is that …
ZIMMER: Well, you know, there, there are some genes that were discovered when people are trying look for the roots of cancer and some genes really stood out. There’s one gene called p53, which is one of the really important genes for cancer. It’s involved in lots of different cancers and it’s been studied for decades and people are still studying it and that’s good. But there are actually lots of other genes that are known to be involved in cancer but they just are not attracting the same attention. So we’re really just, we’re leaving these genes on the table and these are not just genes that may or may not do something important, we know that they’re involved in diseases like cancer and yet they remain unstudied just because of, you know, there’s the saying of, you know, the drunk who looks for his keys under the lamppost because the light is brighter there, you know, like we’re just…scientists are still kind of focused under a lamppost and the, all these genes are out in the darkness.
HEFFNER: So, which do you think you give attention in this book that deserve attention, are not getting attention?
ZIMMER: Well, you know, there are lots of genes that seem to play roles in our behavior and we know that they play a role because we can do tests on thousands or hundreds of thousands of people and we find that if people have one variant of a gene, they tend to be a little bit different in things like personality or intelligence or all sorts of behavioral measures. But then you look at that gene and you say what was that gene do? And people’s like, well, it seems to turn on neurons, that’s all we know, you know, I mean, the, the, these are, these genes have something to do with what it means to be human and yet we have no idea what they do except that they happen to be active in our brains.
So I would really, I’m really looking forward to seeing a lot of those genes being explored and discovered.
HEFFNER: Where did this play in the human genome project? I mean, in terms of where we are today, it sounds like we’re not as advanced as we necessarily should be in understanding the full breadth of genes.
ZIMMER: So, in the 1900s, genetics was really a gene-by-gene kind of science. And so, you know, scientists would say, Oh, here’s a gene that seems to be connected with, you know, like I mentioned Huntington’s disease. And so they would try to find that individual gene. And after a while scientists said, you know, I think things will be a lot better if we just knew where all the genes are.
ZIMMER: And then we had a map and then we could just use that map for whatever he wanted to study.
And so in the late 1900s there was a huge effort to create that map of the human genome, and locating all of our genes in our DNA and saying, well, this one’s here on chromosome one, this one’s here on chromosome six. And that has been a fantastic resource. I mean no scientist who studies genes with would ever give up the human genome now, but what’s surprising is that it really hasn’t transformed genetics as much as people might’ve expected. You might think that when we know all the genes that people will just study all the genes, but they don’t even with the human genome, you even after that became a tool that scientists could use, they still would focus on these 2000 genes. So, you know, I’m hoping that more recent technologies are going to finally shift that.
HEFFNER: To what extent has that, just the overall caution with which we’ve wanted to manage our genes in a way that is not, that’s going to still preserve sort of a democratic system.
ZIMMER: I think that the horror that was eugenics, it actually ended up slowing down a lot of valid research on genes and behavior. And so people would claim that, well, genes have nothing to do with behavior, that we’re just, you know, blank slates and it just all depends on how you’re raised and so on and so forth. Certainly how you’re raised is incredibly important. But, genes do play a role. And we’re at the point now with a lot of tools that I talk about in the book for actually being able to zero in very precisely on genes that are associated with, for example, how people do on an intelligence test. We know the genes and each one has a teeny tiny little role to play. But it’s, but the results are real.
And so, you know, while we need to recognize all of the terrible things that happened in the name of eugenics, we also have to also recognize that the, you know, the genes that we inherit do influence our behavior in many important ways.
HEFFNER: And when you get to the stickiest of subjects within genetics or the human genome race or ethnic origin, and you see the toxic political climate that ensnares us today, how can you manage the new technologies and the preservation of civil society or humanity.
ZIMMER: I think we have to recognize that a lot of the ideas we bring to heredity are incredibly obsolete. So race is one of them in the sense that race was a concept that really took hold in the 1500s, and the 1600s, and then was given a sort of a scientific gloss in the 1700s and it conceived of humanity as being divided very cleanly into separate groups.
And that there was a whole long catalog of traits that were different between the groups: everything from skin color to hair texture to a, all sorts of traits about behavior. But this really, when you look at it was largely a way to justify social practices like slavery. It was okay to enslave a group of people if you could say, well, they’re separate race, they have, you know, this biblical curse, a known as the curse of Ham. And they are, they are constitutionally incapable of living freely. I mean that’s the origins of race.
ZIMMER: So when people talk about race today, they, they still think that there are some sort of essential differences that divide groups. And what’s wonderful about looking at DNA is that we can trace our ancestry, but we see that that ancestry history completely ignores these sorts of boundaries. And, and a lot of the way that we define race is really a how we define ourselves and other people socially. Not biologically.
HEFFNER: That’s true. And in the conclusion of your book, you highlight economic inequality and I couldn’t help but think, you know, the discovery of genomes associated with scoring well on those intelligence tests is going to be just like voting habits. You vote if you’re in a wealthier class than if you’re not, you know, these genes, invariably, some of them are going to be more studied as it relates to a certain echelon of society. And so I’m wondering in the present climate of grave, grave inequity, you know, what kinds of checks need to be placed so that we’re, you know, the understanding the context of research now is in this sort of environment of inequity.
ZIMMER: Well, I, I don’t think that it’s a matter of putting checks on research if research is well founded and is using the right practices.
ZIMMER: I think that it’s great for it to move forward. What I do think is important is that the scientists themselves take exquisite care with how they talk about their results because it’s so easy for people to sort of cherry pick, you know, maybe a metaphor and, and take that and totally distort the, some findings about say intelligence. It’s a very fraught area. But I think that there should be more science on it. Not less.
HEFFNER: So in that more science, how can we employ genes for better pro social use than we are today, or more advances, whether that’s in the medical arena or a social entrepreneurship, anything in particular?
ZIMMER: Well, you know, for one thing, we can, if we start to understand how genes influence, for example, how long people stay in school, we can actually use that information actually to design better experiments to come up with social programs that help more people overall stay in school and actually that gives you extra information so that you can, you know, rather than just trying out some program and not knowing if it’s really working or not, you can do much more powerful experiments. And some of these experiments are being done right now.
HEFFNER: Like what?
ZIMMER: Well, you know, like, you know, there are questions about should, you know, what happens if you support families with money? What happens if you have afterschool programs? What happens if you do have this, have that? You want to, if you want to actually know whether what you’re doing is having a measurable positive effect, as opposed to just, you know, having to pay if you just picked kids that were going to do pretty well anyway, to study like you’re going to fool yourself. So knowing about the genetic side can actually help us with the social side and you know, knowing, knowing what genes influence things like staying in school or intelligence will actually help us to understand the biology in our brains, which can have all sorts of great benefits.
HEFFNER: For people viewing this, who want to access this central storage house of contemporary information about genes and you know, essentially a zoom into them like you would in an Electoral College map on an individual state or county or jurisdiction. What’s the best resource today to do that?
ZIMMER: I would say that we’re still in the very early stages of these kinds of opportunities. So for example, you can go to a company like 23 and Me or Ancestry.com and they will take a sort of kind of, a very high level look at your DNA. So they’ll sequence about point one percent of your DNA and kind of get an overall sense of what kind of variants you have, and they’ll tell you about some of them. But you know if you really are a junkie about these things, you can actually download the data that they give you and you can use that on websites. There’s one called Promethease for example, where it’s kind of a crowdsource Wikipedia of what we know about genes, but it can be very confusing, you know, because
HEFFNER: You did this process for yourself.
ZIMMER: I did…
HEFFNER: So tell our viewers about that.
ZIMMER: So what I did was actually went beyond the 23 and Me kind of thing. I actually was able to get my entire genome sequenced, so all 3 billion letters or so, and managed to get all that raw data. I have a hard drive at home, which is my whole genome, which is not… it wasn’t an easy thing to manage. And then when I’m …
HEFFNER: How many gigabytes is it? Is there?
ZIMMER: It was 60 gigabytes, 60 gigabytes of data and then what I did was I went to scientists and I said, well, you study the genome, show me how you do that and use mine and let’s see what’s in there. And it wasn’t that I was really looking for some terrible secret, but I just was curious like how are our genomes put together and how are we different from each other? Is there something unusual in mine and, and there’s no end of the things that you can discover in there. The problem is that for people in general, that kind of an opportunity it’s not generally available. I had to go and knock on scientists’ doors and talk them into helping me out.
HEFFNER: And was it worth it?
ZIMMER: Oh, it was so fascinating. Absolutely. Like, you know, people who have ancestry outside of Africa are one or two percent Neanderthal because of interbreeding about 60,000 years ago, a scientist said here’s a catalog of your Neanderthal genes here, all the genes in your genome you inherited from a Neanderthal. I was like, wow, it’s, it’s a, it’s a kind of amazing experience.
HEFFNER: And what did it convey to you historically and medically that could be of value going forward?
HEFFNER: To you to your family, you know.
ZIMMER: So fortunately I did not discover any scary mutations in my genome. And I’d say most people will have that experience. I mean, they’re, the really bad mutations are fairly rare, thank goodness. But, I discovered, for example, that, for certain diseases I should probably take certain drugs and not others because our genes determine which kind of medications work well and which don’t. I didn’t know that
HEFFNER: Like the kind of antibiotic or steroid versus an antibiotic or something like that.
ZIMMER: Something like that. Yeah. So in, there was one example of a mutation I have that is known to interfere with a standard medication for hepatitis. So, you know, and you have a lot of situations where doctors are dealing with patients and they’ll say, all right, let’s try this medication and see if it works. And it does, or sometimes it doesn’t. And when it doesn’t, they say, all right, well let’s try this. You’d think that we would be a little more sophisticated with medicine and the genome could help us to get there
HEFFNER: In that set of data and its interaction in the future with the way we live as Americans, as citizens, what are you hopeful about, what are you fearful of?
ZIMMER: I’m concerned that our government is not taking genetic privacy and autonomy seriously enough. I think they’re just leaving a lot of doors open. And I think that’s bad for individuals because I don’t think it’s right for someone else to be looking at your genetic information without your consent, to be making decisions about your future that way. I don’t think that’s right. On the flip side of that there’s a whole lot that we can learn about medicine, about what it means to be human, by allowing scientists access to lots and lots of genomes. You know the more genomes that scientists can compare, patterns emerge, and so the National Institutes of Health is trying to put together a million people in a database to try to get really big data when it comes to biology and those efforts are not going to succeed if citizens are suspicious, if they feel like, I can’t trust these companies, I can’t trust the government with my DNA. So I think there has to be a lot more work on building trust and ensuring that that data is safe.
HEFFNER: Are there any examples of companies that have mastered that, proven themselves to the American people, that your information is secure in their hands.
ZIMMER: Certainly companies are making steps in the right direction. And.
HEFFNER: When we had Maria Freire here for example, we talked about a human genome app, a human genome app where it would store your data and in effect you would be able to kind of manage your genes and their interaction with the world, especially as it relates to healthcare. Does anything like that exist?
ZIMMER: Well there are definitely companies that are developing those things, either for their own services or as something that they can provide to healthcare systems and so on, so yeah, there are unquestionably there are people working on it and there are real advances going forward and I think that you see that for now there are people who are trusting enough with these services that they are volunteering their data to be part of research. So a place like 23 and Me for example is regularly publishing original scientific research for example, sleep. You know why is it that some people have serious problems sleeping? Well, they have…
HEFFNER: Because folks give their consent to…
HEFFNER: For that organization to study their data…
ZIMMER: So for now they are trusting the company but if there is a big hack at 23 and Me I would not be surprised if a lot of people unchecked that box and said I don’t want anything to do with that.
HEFFNER: And in the closing minutes that we have, what would what firewall is in place, there isn’t really a firewall in place for the exploitation of that kind of data, so if there is a security breach it could be, it could have huge repercussions.
ZIMMER: We don’t know exactly what would happen if something like that occurred. We don’t know how people would use that sort of data. I don’t know what someone would do with my data honestly, it’s not that interesting, you know.
HEFFNER: What about the question, lastly Carl, of propriety. Who owns that data? And as soon as private enterprise or the government becomes involved, there’s a question of whether this genetic, just like intellectual data are now in their ownership.
HEFFNER: Where are we in that?
ZIMMER: Well, when it comes to genes for the most part, it really comes down to who discovers something interesting in the genome. So I have a mutation for example, that actually protects me against certain kinds of autoimmune diseases and some other people have it too. It’s a somewhat rare mutation. It turns out that scientists who studied that mutation learned some things about how the immune system works and they actually have designed a drug which can interfere with that pathway and that’s now just coming on the market. It’s a billion dollar drug and so they’re making a lot of money on it. I with that mutation and other people like me; we’re not making any money off of it even though it was discovered by studying people like me. So…
HEFFNER: The brave new world fear is that we would no longer have ownership of our own genes and that government sanctioned or business would then just like Facebook and Twitter own your intellectual property that you disseminate on those platforms. Is there any risk of that in a climate where it’s the brave new world? We don’t really have rules that are ostensibly governing that question of if you commission someone to study your genes or if you enter into a government service that requires your genes, does that, are you retaining your right to the data?
ZIMMER: Well, I mean, there are some policies in place. There is a debate about where things go from here.
HEFFNER: What policy is in place.
ZIMMER: Well, I mean, you, you in, in order to even begin to study your gene, say a scientist would have to get your informed consent. They would also have to be running have a approval from a board that was looking at the ethics of it, as to who gets ownership, that then gets into issues about intellectual property. I, you know, I don’t, just because I have certain genes doesn’t mean I actually know how they work. You know, it actually takes research to figure out how genes work and what implications that has for treating diseases. And so, you know, I think that if we were to say that like you can’t study, all the money that goes from developing a drug has to go to the person whose genes it came from. I do think that would actually slow industry down a lot.
HEFFNER: Carl, we could go on for a long time, but thanks for joining me for this half hour.
ZIMMER: Thank you. It’s been a pleasure.
HEFFNER: And thanks to you in the audience. I hope you join us again next time for thoughtful excursion into the world of ideas. Until then, keep an open mind. Please visit The Open Mind website at Thirteen.org/OpenMind to view this program online or to access over 1,500 other interviews and do check us out on Twitter and Facebook @OpenMindTV for updates on future programming.