International bestselling author Isabel Allende discusses her new memoir, "The Soul of a Woman," a reflection on feminism in our society, and in her own personal life.
The journal Science named it the scientific breakthrough of 2015: CRISPR-Cas9 is being called a revolutionary gene-editing technique. Experts say it’s easier, less expensive, and more precise than previous technology, and has the potential to prevent certain hereditary diseases. But it has raised concerns in the scientific community: how far is too far when it comes to editing the code of life? Should we be altering human eggs, sperm and embryos? Last month, experts convened in Washington to discuss that question, calling for a pause in using the technique to assess risk and possibility. A closer look at gene editing now and in the future, and what the latest advances could mean for disease prevention.
- Dr. Francis Collins Director, National Institutes of Health
- Joel Achenbach Science reporter, The Washington Post
Watch: Genome Editing with CRISPR-Cas9
MS. DIANE REHMThank for joining us. I'm Diane Rehm. It sounds like the stuff of science fiction, the ability to precisely edit the human genome to prevent disease or create so-called designer babies. But the technology is here. The tool known as CRISPR Cas9 has recently forced scientists to weigh the risks and rewards of editing the code of life for various purposes. Many say we should not be engineering the germ line that's transmitted to future generations.
MS. DIANE REHMOne of those is Dr. Francis Collins. He's director of the National Institutes of Health. He joins me in the studio along with science writer Joel Achenbach of The Washington Post. You're welcome to be part of the program. Give us a call at 800-433-8850. Send us your email to email@example.com. Follow us on Facebook or Twitter. Dr. Collins, Joel Achenbach, it's good to see you both.
DR. FRANCIS COLLINSIt's wonderful to be here with you again, Diane. I didn't my guitar, but I'm looking forward to really interesting conversation.
MR. JOEL ACHENBACHThanks for having me back, Diane.
REHMAnd -- absolutely. First, I want to understand the term CRISPR Cas9. Where in the world did that come from, Dr. Collins?
COLLINSWell, it's a great story and it's a wonderful example of how research in the most obscure areas sometimes leads to unexpected and amazing breakthroughs. People trying to understand simple bacteria have known for some time that bacteria also have their viruses. They, too, can get infected with viruses that don't give us any trouble, but make these bacteria quite sick. And they wondered, how do bacteria develop their own immunity to this?
COLLINSWell, there was this strange DNA sequence that you find in the genomes of bacteria where you have this repeated sequence that's actually forward and backwards, what you'd call a palindrome, Discovered almost 30 years ago, but nobody knew what it was for. And it turns out that that was a sequence that was sort of stored there by the bacteria as a memory of a virus that it had to fight off one time and it uses it as a template to know what to go after if that virus comes along.
COLLINSThe bacteria figured out how to snip its DNA and inactivate it. So what does CRISPR stand for? Well, it's a description of those DNA sequences before anybody knew what they were so it stands for Clustered Regularly Interspaced Short Palindromic Repeats, C-R-I-S-P-R. Most of us, including me, have to write that down to remember what it stands for.
COLLINSI had to write that down 'cause otherwise, I'm like, well, something about palindromes. And Cas is the enzyme that is responsible for actually doing the snipping that makes this whole system work, which is pretty amazing. And, again, you would've thought this is some strange curiosity that only a basic scientist would care about. But now here we are. It's the breakthrough of the year in all of science in 2015. Not just biological science. All of science. This is considered the biggest thing. Amazing.
REHMBut now, Joel, haven't we been doing something like this for long time?
ACHENBACHYeah. We've been doing a lot of genetic engineering for decades. Go back to the 1970s. In 1975, there was a big summit in Asilomar, California to discuss how to move forward with some kind of, you know, really promising, exciting but somewhat worrisome new technologies where you could go in and splice genes. Now, we had, here in D.C. in December, at the beginning of December, another summit kind of built around the Asilomar model in which people from the UK, China and the US -- when I say people, the top scientists, leaders in the field.
ACHENBACHI'm sure Dr. Collins was there, too. And got together and discussed what are we doing to do about CRISPR. So even though we've done gene editing before, CRISPR is cheaper. It's easier. It's faster. You don't have to have a huge institute, you know, with $100 million funding to do it.
REHMSuch a leap forward that almost any scientific lab can do it?
COLLINSIn my own lab at NIH, we work on basic science questions. We're using CRISPR. Almost any lab that does biological science now has brought this onboard because it is such an efficient and highly specific way of doing gene editing. That's the other thing. We've had ways of doing that kind of gene editing. They were clunky. They sort of landed in the wrong place sometimes. They left footprints behind of having been there and changed the DNA sequence.
COLLINSCRISPR is much more surgical. You go and you change one letter and you jump out and nobody knows you were there.
REHMSo as I understand it, the December conference was really to look at whether and when this kind of new breakthrough should or could be used.
ACHENBACHSo the obvious issue is would you want to use this technique on human germ line cells in which the changes can be passed along to the next generation. Now that raises a...
REHMSo once you do it, then that's what happens next time and next time and next time.
ACHENBACHTo the progeny, to the offspring. And so the scientist who got together and the ethicists and there were historians, they came up with a statement at the end of three days saying, essentially, and Dr. Collins correct me if I don't say this correctly, saying this research can go on, the basic research can go on, but it should not be used on embryonic cells for the purposes of creating a pregnancy in human beings.
REHMAnd who's going to stop whom from doing this, Dr. Collins?
COLLINSWell, Diane, that's a great question.
ACHENBACHIt's a good question.
COLLINSAnd it was, I think, notable that this gathering, convened jointly by the National Academies of the U.S., the Royal Society of the UK, which is kind of their National Academy and the Chinese National Academy, was a start in having three countries say, we think this kind of research that involves creating a pregnancy with a modified genome should not happen. But there is no international body, right now, that has enforcement power to be able to say, this shall not happen.
COLLINSAnd so one of the recommendations of this December meeting was that lots of other countries should also get engaged in having these conversations and seeing what they could do also to provide greater oversight.
REHMDr. Collins, when you say this is easy, this is something any trained scientist might be able to do, is that your concern, that someone -- I mean, that we could be creating, in effect, Frankenstein babies?
COLLINSWell, it's easy. It's not the sort of thing you'd set up in your garage this afternoon. You still have to have a molecular biology lab with a certain skill set so it's not trivial. But compared to the ways that we've had previously available to do this, this is much more accessible and it's much more inexpensive, maybe some people have said a thousand times cheaper than what we could've done before. So yes, there are concerns if it's become that much more accessible, will there be a circumstance where somebody decides I don't care what the ethicists say. I'm going to do this anyway and see if I can improve on a human being.
COLLINSNow, it's important to get into this conversation about what would be the benevolent uses of this that would involve modifying the human germ line 'cause people are quick to say, well, gosh, if you could use this to cure a terrible disease...
COLLINS...we should probably really look at that seriously. Turns out, it's pretty hard to think of actual situations where you would need to use this approach in order to avoid the birth of a child with a terrible disease because we already know how to do that using invitro fertilization and choosing the embryos to re-implant using something called pre-implantation genetic diagnosis. And it turns out, if you're gonna use CRISPR to try to fix an embryo, you'd still have to use invitro fertilization.
COLLINSSo unless you're talking about a situation where, for instance, you have two people who are deaf and they both have the same deafness gene in both copies so the only way they could have a hearing child would be to do this kind of manipulation, virtually every other kind of genetic risk factor can be managed already with something called pre-implantation genetic diagnosis. So we need not to rush into this with the idea of, oh, we can cure genetic diseases with this. Well, actually, no.
COLLINSMost of the time, we already know how to do that. People sometimes choose to take advantage of that or not, but this doesn't add to the toolbox for that purpose.
ACHENBACHI think there's a couple of issues to confront here with CRISPR. One is I think we have to discuss whether it makes sense to enhance the human species and do we want to go down that road, which has this sordid history of eugenics in the past where you can imagine a scenario where people would say, well, I want my child to be smarter or taller or run faster or be, you know, a superstar athlete or -- and this is not limited to CRISPR. I mean, you could do some of this with traditional -- more traditional genetic engineering.
ACHENBACHSo that's a thorny issue, you know. At what point are you fooling around with human nature and the human body in a way that just doesn't feel right. And the second issue, though, is -- and Dr. Collins can explain this better than anyone -- the genome is not simple and it's not like there's one little gene that makes you tall, for example, or one gene that makes you smart. And we don't -- there's a danger of mistakes. And this came up in the conference in December in D.C., which is that this is hardly a foolproof mechanism and there are even disease that you may not want to eradicate from the human genome because they have secondary benefits, such as prevention of malaria.
ACHENBACHSo I think that this is -- there is a couple of different areas that we need to look at.
REHMGot to talk more about that after a short break. Joel Achenbach and Dr. Francis Collins are here to answer your questions. Stay with us.
REHMAnd welcome back. Here in the studio, Dr. Francis Collins. He's director of the National Institutes of Health. He does serve at the pleasure of the president of the United States. Joel Achenbach serves at the pleasure of The Washington Post where he is a science reporter. And just during the break, I was asking Dr. Collins whether this was the successful effort of one person or a team.
COLLINSWell, when you go back 30 years, you can see the original discovery of these strange DNA sequences, involved quite a number of people who didn't quite know what they were looking at and that bounced around amongst laboratories, many of them not in the U.S. I think the real advances that have now sort of set the world on fire really only happened about three years ago with two individuals, Jennifer Doudna and Emmanuelle Charpentier, figuring out that this CRISPR Cas system could be programmed to cut any DNA sequence in a test tube if you've learned how to set the parameters correctly.
COLLINSAnd then, just a year later, Feng Zhang and George Church independently, both in Boston, showed you can do this inside cells, not just in a test tube, including human cells. So a lot of people mentioned those four names when they're talking about what happened here. But just like in many areas of science, you stand on the shoulders of lots of people. When you hear about breakthrough, it almost never is the result of one or two people.
REHMAnd I gather there are going to be some arguments about this, Joel.
ACHENBACHWell, yeah. There's a big patent fight, as Dr. Collins mentioned, and it's the lawyers are going to be spending a lot of time figuring out who gets the credit and who's going to have the monetary gain from this. And I'll just say, as an addendum to what Dr. Collins said, he named four people and this is research that clearly is Nobel Prize kind of...
ACHENBACH...of research. It's kind of thing that Nobel Prizes are awarded for. But the Nobel Prize, by rule, can only be given to a maximum of three people. So there is another little wrinkle in the story.
ACHENBACHWho gets thrown under the bus on this one?
REHMAnd don't you have arguments going on between two universities?
COLLINSUniversity of California Berkeley and the Broad Institute of Harvard and MIT are the two institutions that have filed patents on CRISPR Cas and those patents are now judged by the U.S. Patent Office to be interfering with each other and there's going to have to be some very deep legal discussion about which one dominates. So yeah, there is a lot going on right now and each of those have already resulted in the founding of companies that are capitalized in the hundreds of millions of dollars. So there's a lot at stake here.
REHMAll right. Give me a sense. Could you, in this process, find a gene, for example, that may develop into Parkinson's Disease or Alzheimer's Disease or a particularly noxious problem and be able to eliminate it?
COLLINSFrom the population altogether. It's a great question, Diane, and that is maybe one of the areas where the discussion that happened in December was particularly focused and well should be. So take Alzheimer's, 'cause that is an example where we know about a particular genetic variant which has the sort of unapproachable name called APOE-e4. If you have one copy of APOE-e4, your risk of Alzheimer's disease is about threefold elevated.
COLLINSIf you have two copies, one from each of your parents, your risk is elevated about 15 fold. So some might say, why don't we get rid of APOE-e4 in the entire human population? We could use CRISPR Cas. We'd go in and start modifying embryos right and left. We could use something called gene drives, which we might want to get to later as a way to even speed up the process of making that change and we'd be doing a really good thing. But would we? Why is APOE-e4 there in the first place?
COLLINSIs this truly 100 percent bad thing? It turns out if you study people who carry that, it looks as if, as young people, they have enhanced memory, enhanced cognition. What's bad for you later may be good for you early on. We could be actually doing harm to our population by diminishing that positive. I mean, basically, we don't understand the human biology well enough to have enough hubris to say that we can go in and do sort of a wholesale restructuring of the population's genome without potentially doing something wrong.
COLLINSRemember, evolution's been at this for 3.85 billion years. Do we really think we're so smart that we can, in an eye blink, do so much better just by tinkering? We have to be really thoughtful about mistakes that we could make in that space that we can't take back later.
ACHENBACHThis was a comment also made at the conference that, you know, evolution tinkers with the genome and although it doesn't optimize us in every possible way over time through natural selection, there's a reason that we're built the way we are and, you know, Dr. Collins knows better than anyone on the planet probably about the human genome, because he ran the human genome project that decoded the human genome back in, what, 2000?
ACHENBACHAnd so it turns out that it's not a simple alphabet. It's not like picking out colors or crayons or something.
REHMI'm almost jumping out of my seat here. I'm finding myself saying, but doesn't nature sometimes make mistakes.
COLLINSSure. And we can all look at rare conditions where a mutation arose in a specific gene that results in an outcome of a child who has a serious illness. My lab works on this form of premature aging called progeria caused by one letter out of place, very rare, maybe only a couple hundred kids in the whole world.
REHMOr Fragile X Syndrome.
COLLINSOr Fragile X. And clearly, those are circumstances where that mutation has not been beneficial for that individual's ability to live a long and healthy life. But I think if you were talking about trying to improve the human species, it's probably not those rare conditions that we'd be talking about. We have other ways of approaching those. It would be the common variations, like APOE-e4, that people would say maybe we could just wipe that one out of the whole lot of us.
COLLINSAnd that’s where, I think, you have to be much more thoughtful. Why did APOE-e4 get to be so common in the population? If it was really bad for us, it would've been pulled out of there by the process of, you know, reproductive effects of evolution and it hasn't been. So maybe there's some benefit and we don't want to miss that.
REHMBut there had to have been some arguments at that conference on the other side, Joel.
ACHENBACHWell, there was a lot of arguments on both sides. I think that one -- but, you know, Eric Lander who runs the Broad Institute, you know, made this point that if it's such a great idea, why didn't evolution come up with it before. And your point is true, there are all kinds of genetic diseases that we would like to do without and humans evolve with technology. It's not like we're a fixed species, I mean, you know, something 70,000, 80,000 years ago, we evolved this ability to do symbolic reasoning and to create models of the world and create tools and change our environment and we've been doing that for a long time.
ACHENBACHAnd so it's not like we're doing something innately wrong to experiment with medical science and medical technology. And there are people who say, well, you know, even disabilities, we shouldn't try to get rid of them. That's an example of able-ism, that that's an example of saying if you're not perfect, you're not okay. And that's an argument that was a viewpoint that was not represented at this conference. There was some criticism by some people that the conference was not fully inclusive of all the different perspectives.
ACHENBACHBut in any case, you know, this technology, CRISPR, along with some other areas, such as artificial intelligence and computer science, is creating a new world for us that it's changing so rapidly it's going to be different 20 years from now and 40 years from now.
REHMJoel Achenbach of The Washington Post and you're listening to "The Diane Rehm Show." Our callers would very much like to get into this conversation, 800-433-8850. Let's first go to Brian in Tallahassee, Florida, you're on the air.
BRIANHi, Diane. Thank you very much for having this topic. Happy New Year to everyone.
REHMHappy New Year.
BRIANJust kind of wanted to make a comment and then I have a semi-technical question. My comment is that I would hope that, you know, ideally this sort of discussion would be had when population was sufficiently scientifically literate to have a rational informed discussion about the techniques and the ramifications and, you know, the moral issues involved. But unfortunately, since we've got, hopefully not too large, but a small section of the population that doesn't believe climate change is real and I think a larger section of the population that doesn’t accept evolution as fact, you know, I don't know when it's ever -- our society can actually have a rational informed discussion about this.
BRIANBut I certainly appreciate you attempting to, you know, bring these topics to the public.
REHMAll right. Thanks for your call. Joel.
ACHENBACHSo Brian, I'd just like to point out that this is a topic that you will probably not be hearing about on the campaign trail in Iowa and New Hampshire. This is a debate and a discussion that, for the moment, is largely being had among the scientists themselves and the ethicists and the heads of agencies about what you should be doing with CRISPR. Your larger point about scientific, you know, doubt and denialism is certainly an issue that covers -- that's a topic we've talked about a lot recently, but I haven't seen that effect this particular debate.
REHMBut here is an email that puts it into a nutshell. "My wife has the BRCA-1 gene mutation. How do you reconcile objection to gene editing with the ability to prevent cancer?"
COLLINSThat's a great question. And, you know, we've been talking about the use of CRISPR almost entirely about modifying the human germ line. Let's quickly point out that there are lots of other ways this technology can and should be used to provide benefits for people with illnesses that don't require changing the DNA that's going to be passed to the next generation. There's enormous excitement about how we can use this for cancer, for diseases like Sickle Cell Anemia, for HIV/AIDS, I mean, all sorts of ways that this very precise ability to manipulate DNA can be benevolently applied and are being proposed now in great abundance, and well they should be, for human clinical trials.
COLLINSBut those don’t involve manipulating the germ line. An individual as your email sender talks about who has a mutation in BRCA-1, this gene which, if you have a misspelling, carries a risk to a woman of perhaps 80 percent of breast cancer and maybe 50 percent of ovarian cancer, obviously, that is a circumstance you would very much want to be able to treat and not to have lots of people in the population so afflicted. If that were a desire to try to fix that, again, how would you do that?
COLLINSIf you say somebody with that mutation doesn't want to have a child who carries it also, then you'd have to do invitro fertilization. You'd have a series of embryos. You'd have to check each one to see which one is carrying that mutation and then try to fix it by CRISPR. But meanwhile, you have other embryos that you've just created that don't have the mutation 'cause it's a 50/50 chance whether it's going to get passed on. Much simpler and much safer to just re-implant the ones that don't have the mutation at all.
REHMDr. Francis Collins, he's director of the National Institutes of Health. Also here in the studio, Joel Achenbach of The Washington Post. And you're listening to "The Diane Rehm Show." Here's a question for you. Is there the hope or even the ambition that somehow in adulthood, if that genetic mutation were found, could that be changed without harming the genetic line?
COLLINSAbsolutely. And I think that's where a lot of the excitement is. So let's talk about sickle cell anemia. Here is a disease which comes about because of a single letter out of all 3 billion that has the wrong spelling and individuals with that condition, obviously, have a very serious problem with anemia, with chronic pain episodes and a shortened lifespan. There are protocols already being pursued using CRISPR in animal models, but expectations that within two years we may be ready for human trials.
COLLINSWhat's the idea? You take out the bone marrow cells 'cause they're the ones that make hemoglobin and it's hemoglobin and red blood cells that are the problem, you take CRISPR and you use it on the stem cells in the bone marrow.
COLLINSAnd you fix that mutation and then you put them back and you allow those cells to basically populate that person's blood system and they don't have sickle cell disease anymore.
REHMAnd you believe that is as close as two years out?
COLLINSI think trials are likely to be initiated within two years. I don't know how well they will work. There's all kinds of technical issues there I didn't get into that could make this more difficult, but the beauty of this is it's not a bone marrow transplant. It's your own cells. You don't have to worry about rejection the way we currently do with most of these schemes that involve stem cell transplantation.
ACHENBACHSo my understanding is there is a couple of thousand trials right now with human beings involving gene therapy, but maybe only a few use CRISPR. Is that correct?
COLLINSAnd none have yet been initiated, as far as I know, that use CRISPR. They're using other kinds of gene editing, things like TALENs and zinc-finger nucleases, but as of -- as far as I know right now, nobody has yet started a trial with CRISPR in humans.
ACHENBACHSo the answer to the emailer's comment, to the question about BRCA-1 is that this is a very active ongoing effort to help people who have diseases and who are vulnerable to diseases and it's being done with gene therapy already, but people should be aware that, you know, this, although it's a precision science, it's not a perfect science. And in the area of gene therapy, I believe it was 1999, there was a very tragic case of a gene therapy experiment that went awry and the patient died in the trial. I'm sure Dr. Collins knows about that.
ACHENBACHAnd, you know, it's not automatic. It's not like, you know, fixing a carburetor.
COLLINSYes, a very good point. And, again, safety issues here, we think they're manageable. Let's be clear. CRISPR is really elegant, but maybe sometimes it hits a different place than you thought it did. We have to think about that.
REHMDr. Francis Collins of NIH. Short break here. When we come back, more of your emails, your phone calls. I look forward to hearing from you.
REHMAnd welcome back. So many of you have sent in great emails and are awaiting on the phone. Roz in Cincinnati asks, "what about CRISPR's use for Duchenne muscular dystrophy?" Dr. Collins?
COLLINSThat's a great question. There was just a paper, two papers, reporting a mouse experiment. We have a pretty good model of Duchenne muscular dystrophy in the mouse, where the mouse has been engineered to have a mutation in this particular gene, a very large gene called DMD, and CRISPR-Cas could be a way to fix that. The question is how do you deliver it to the muscle because that's where the problem is, and people have tried various strategies, but this is a new one.
COLLINSSo what they did was to take the whole CRISPR-Cas engineering system, and they stuffed it into a virus that likes to go to muscle, and then they put that virus into the mouse, and they could should that CRISPR-Cas got to the muscle cells and did its thing of fixing the Duchenne gene and very pretty pictures of how the muscle in that mouse, which was really not working, was recovered as a result of this. Still a mouse experiment, but certainly for this disease, where we desperately need really good targeted ways to fix that genetic problem in kids, boys with this condition because it's an excellent condition, this is a step that a lot of people are excited about.
REHMSo let's go back to Alzheimer's and Parkinson's for a moment. Let's say you had an adult with either of these conditions. Would there be, obviously not now but perhaps in the future, an ability to isolate that adult gene and extract it?
COLLINSIt's a delivery problem, and that's -- and, you know, that problem is not fixed by having a system that's really good at editing the gene of the cell that you want to fix. You've still got to get it there. I mentioned a minute ago with mouse, the trick of the virus to get CRISPR into the muscle. If you're trying to fix Alzheimer's, you've got to have a delivery system that gets to the brain.
COLLINSIf we had that delivery system as efficiently as we would like, CRISPR-Cas would be a great thing to deliver. You could potentially go in and provide a spelling of the gene for amyloid that's particularly resistant to causing trouble because we know of such a spelling. But there's still a big barrier there in terms of how to get it there in high enough efficiency to help the problem.
REHMJoel, you must be fascinated by all this.
ACHENBACHI keep thinking how great it is that the head of this huge agency, NIH, is someone who also has his own lab. He really knows this stuff, Dr. Collins.
ACHENBACHBecause he has his hands in these experiments. And just take a step back for a second, you know, I think that there's two narratives going on in this show, and one is very positive, and it's about, like, how can we use this technology to make our lives better, and to judge by some of the emails coming in, there's this sort of shadow narrative of oh my God, where is this leading us, and is this going to create nightmare scenarios with bioterrorism or, you know, "The Island of Dr. Moreau" and, you know, trans-human, you know, chimeras or whatever.
ACHENBACHSo that's sort of the story with technology in the last, you know, however many decades or centuries. You look at something like the basic research done on nuclear physics back in the 1930s, you know, creates the idea for wow, you could do a chain reaction, you could make a bomb. Next thing you know, you have Robert Oppenheimer and others at Los Alamos, and they invent this -- they invent a bomb, and it gets quickly used on people, and then we spend decades under the threat of a nuclear annihilation.
ACHENBACHMaybe that's the wrong analogy for CRISPR, but I think it's fair to say that we don't always know how technologies are going to be used. And it is worth keeping both narratives in mind.
REHMOkay, so perhaps you got a portion of the scientific community very much involved here that wants to move forward as quickly as possible, and then there are those in your camp, Dr. Collins, who are saying, let's move more cautiously.
COLLINSI think we're saying move more cautiously with the human genome, and I do think now that's the strong majority of how the scientific community feels because of risks of safety, because of concerns about whether this would lead to a problem about commodifying children. I mean, all of the ethical issues you can raise about whether this would be a situation where only the rich have access to resources to benefit their offspring, I mean, these are issues that are not new, but they come to the fore again when we have this.
COLLINSBut I think I'm also in the majority of saying that if we can use this to cure terrible diseases without modifying the germ line, well, let's see what we can do as fast as we can. People are waiting for those answers, people who need, desperately, new kinds of medical interventions because we don't have the answers yet.
ACHENBACHDr. Collins, you mentioned earlier, before the show, that a human being, you know, a human cell that can someday become a human being, is in your view different from the cells of other animals. And I'd be curious just to hear about your own sort of beliefs about the human species and whether or not we should try to enhance the species above and beyond trying to cure diseases.
COLLINSWell, that does get us into territory that's not just reductionist science. It's also more in the space of philosophy and morality and theology. And are we humans in a circumstances where we could consider ourselves embryonic cells that are ultimately capable of becoming a human being as just any other kind of cell, or is there something special here? I think most people would say there's something special here, and I would say that, as well.
COLLINSAnd particularly if we think of ourselves not just as molecular entities but as creatures that have other aspects, including a spiritual nature, by beginning to imagine that we are going to re-engineer ourselves into an entirely new species, there's something pretty significant to worry about there in terms of what we've done as far as our relationships with each other and with God.
REHMHere's an email, let's see, from Tracy. "Does this research have any implications for genetic disabilities like trisomy-21?"
COLLINSSo trisomy-21 or Down syndrome comes about because, at the time the embryo is formed, there's an extra chromosome 21. So instead of the usual 46 chromosomes, there are 47. CRISPR-Cas is not very well-suited to deal with that circumstance. You have a whole chromosome that's present in an extra copy, millions and millions of base pairs. It's -- CRISPR is really good at the precise little editing. This is like you had a whole extra volume in your encyclopedia.
REHMI see. All right, let's go to Chris in Traverse City, Michigan. You're on the air.
CHRISThank you for taking my call.
CHRISMy question is, it's not necessarily that the scientists are the ones that are going to break the rules. I would imagine that the sports world is the first people that are going to break the rules with this as far as trying to edit the human genome to get super-sports babies because they've already shown the willingness to break the rules in other aspects of sports competition. And this also harkens back to, and I wonder if either one of the speakers believe in Ray Kurzweil's predictions that the singularity is a real thing and that it's near.
ACHENBACHI'm glad you asked that. We actually just had a very long article in the Washington Post about the singularity.
ACHENBACHAnd anxiety about artificial intelligence. I would say that the singularity is a cultural concept more than a scientific one. I wouldn't say it's pseudo-science, but it's -- you know, it's kind of arm-waving by Kurzweil and others saying that there's this moment coming up when the computers are going to get so smart that they will start programming themselves, and then they'll just be off to the races, and we'll be sitting around slack-jawed, wondering what happened to our invention.
ACHENBACHAnd I think that that coming of super-intelligence, you know, the story that we did in the Washington Post, tried to vet that issue and explain kind of what most, you know, people who research artificial intelligence believe right now. They would say this is many decades away, if ever. It's not an urgent, immediate issue. What's interesting about CRISPR, to bring it back to CRISPR, is this is happening right now. I mean, this is -- this is not the singularity. This is not 20 years from now. This is -- biotechnology has made this great leap forward into a new era just in the last four years. It was 2011 when these first papers were published.
COLLINSAnd as far as the sports question, keep in mind that sports ability is not managed or controlled by a single gene. In fact, an awful lot of it has nothing to do with genetics. It has to do with environment, with parenting, with activities that lead to somebody gaining some success in that space. I mean, imagine you have a couple who's decided they're going to CRISPR-Cas the heck out of their offspring, and they're going to produce a kid who's, you know, playing quarterback on the football team and also, you know, getting A-pluses and playing first-chair violin, but they forgot to parent.
COLLINSSo they end up with this kid who has really interesting engineered DNA, but he's sitting up in his room smoking pot and listening to heavy metal music and failing all his classes.
ACHENBACHHey, hey, hey, is that bad?
REHMAll right, here's an email from Wendy in Tacoma Park, Maryland. Really, this goes to your concerns, Dr. Collins. She says, my daughter and husband have DYT1." You know what that means. I don't. "The gene has been isolated. We tried unsuccessfully to have the gene isolated and removed from the embryo, and our daughter now has developed dystonia in her legs and feet. Is there anything to do now or when she becomes an adult? Is it ethical to remove this gene we know runs in our family from the embryo?" What a great question.
COLLINSGreat question. So again, this would be a tough one for CRISPR-Cas to be used to treat somebody who's already affected, as this individual's husband and daughter apparently are, because this would need to deliver the fixing system to all these cells in the brain and in other parts of the nervous system, and we don't have the delivery trucks to do that right now very efficiently. In terms of future generations, though, again this is a dominantly inherited condition, so an effected person, it's a 50-50 chance if their child will be effected also. That is something that can be addressed, but it can be addressed without CRISPR-Cas, using in vitro fertilization and then by pre-implantation genetic diagnosis, choosing which embryos are not affected and making sure those are the ones that are implanted. So we don't even need this new technology to be able to do that.
COLLINSIt's still pretty high-tech, it's still only done in a few places, but you couldn't use CRISPR-Cas without going through that step anyway. So again, I think we've maybe, in many of these conversations, jumped into the space where oh, we've got a way to do this that we didn't have before. We've kind of had this before, but it's still pretty challenging to use it.
REHMAnd you're listening to the Diane Rehm Show. To Alison in Interlochen, Michigan, you're on the air.
ALISONAnd Dr. Collins. I just wanted to say thank you. The research that is going on with the CRISPR-Cas9 and even like you were mentioning the in vitro fertilization and pre-diagnostic -- it hits really close to home for us. Our daughter has had extensive genetic testing, and we are still undiagnosed. And knowing that there are possibilities to, in the future if we decide to have another child, you know, that there's an opportunity for us is huge. And I just wanted to give my thanks to just really say thank you.
REHMI'm glad you called.
COLLINSYeah, thanks for calling. I don't know if you know about the Undiagnosed Diseases Program, which is something we started at NIH about three or four years ago, which brings children or adults who have puzzling conditions that have eluded medical diagnoses for about a weeks-long, very intensive investigation with multiple physicians involved, compete sequencing of the genome, and we do pretty well coming up with answers about one time out of three. And that might be something to look into because now there's a whole network of those centers across the U.S. that we've just funded.
REHMOh, I see, I see. So it wouldn't just be at NIH.
COLLINSNo, no, it's an Undiagnosed Diseases Network, and I believe there might be one in Michigan. I'm not absolutely sure.
REHMAll right, and finally to Perry in Brunswick, Maryland, you're on the air.
PERRYThank you, Diane, for this fascinating program, and thank you, Dr. Collins, for your research and Joel for publicizing it in the print media. My question is, is there an organization -- does NIH or another organization, which is nonprofit, basically generated, you know, there for research that benefits all of us as a community that accepts donations or would accept donations of genetic material and also medical records to correspond with that for individuals?
REHMDr. Collins, you're smiling.
COLLINSWhat a great question. Within the next few months, you will be hearing about an opportunity to volunteer for the Precision Medicine Initiative, which aims to enroll a million Americans in an unprecedented effort to understand what are the factors that play out in terms of health or disease. And you will be, if you sign up, a full partner with us in answering those questions. That will involve use of electronic health records, analysis of DNA, environmental exposures, health behaviors. This is a really big deal, and it's just about to launch.
ACHENBACHAnd do you have to be a certain age, Dr. Collins?
COLLINSNo, it's across all age groups, across demographics, geographies. We want a very broad, diverse representation of the United States.
ACHENBACHWill it hurt? I mean, do you have to get shots and things like that?
REHMYeah, how do you do it?
COLLINSWe will need a blood sample.
REHMOkay, a pin prick maybe.
COLLINSWell, probably a little more than that.
COLLINSWe need enough to be able to do some laboratory work on, but that's about it. And your willingness to basically not do this as a one-time thing but to be involved in an ongoing way. Remember the Framingham study that taught us all that we know, practically, about heart disease?
REHMSure, about heart disease.
COLLINSWell, this is Framingham about 40 times bigger and focused on all diseases with technologies that Framingham didn't dream of.
REHMYou know, we did an entire hour with you, Dr. Collins, on this very subject last year.
REHMAnd people can find that conversation online. I can't tell you precisely when we did it. I don't have the date.
REHMBut I'm sure you can find it. Such exciting things going on in the field of science. I commend you, Dr. Collins, for everything you're pushing and doing.
COLLINSWell gosh, Diane, I commend you. The first caller we had was asking about scientific literacy. One of the best efforts to try to improve that for our nation is what you do on this show.
REHMThank you so much.
COLLINSAnd Joel, what you do at the Washington Post, putting this information out there in accessible, you're both doing heroic work.
REHMDr. Francis Collins, director of NIH, and Joel Achenbach of The Washington Post, thanks for listening all. I'm Diane Rehm.
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