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STEVE HILL GARTNER: OK, so with that said, let me introduce myself. I'm Steve Hill Gartner from the Department of Science and Technology studies. And for those of you who aren't familiar with the Department of Science and Technology studies, we a department in the arts college that works on social and historical issues connected to science and technology. So we do ethics of science, politics of science, the social forces that shaped the development of science and technology. And we also run the cross college undergraduate major in biology and society.
OK, so today we have a wonderful panel of experts to speak to us about the genomics revolution. I don't know why this slide is not advancing. Oh, it's the wrong remote. That explains it. There. This is the topic, the genomics revolution. And each panelist is going to talk for about nine minutes.
And I'm sure you're going to find their presentation stimulating and provocative. So we want to leave a little time for discussion and questions and answers at the end. So to preserve time for discussion, I'm going to be a tyrant with timekeeping. And we're going to get started right away. So let me first introduce-- there's our panel.
Let me introduce Adam Boyko. Dr. Boyko is a graduate of the University of Illinois. He's an assistant Professor at Cornell. And his research focuses on canine genomics. He studies issues in domestication of canines. He studies their genome structure and the genetic diversity of free ranging village dogs.
In addition to his degree from the University of Illinois, he received a master's in computer science and a PhD in biology from Purdue University. And then he did postdoctoral training here at Cornell and at Stanford before returning here as a faculty member. So we're very lucky to have him here. It's a pleasure to introduce Adam Boyko. Thanks.
[APPLAUSE]
ADAM BOYKO: All right.
STEVE HILL GARTNER: It's the another one.
ADAM BOYKO: Yes. This one for me, right?
STEVE HILL GARTNER: For you. Yes, sorry. Yeah, for you.
ADAM BOYKO: Yeah. Backwards here. So thanks, Steve. I really appreciate the opportunity to come here and talk about a topic near and dear to my heart, which is genomics and genome sequencing. Obviously we've had great advances in agriculture and veterinary care and medical care from the genomics revolution.
And as a biologist, I'm really interested also in how genomics has taught us about the diversity of life and our place in that diversity. So humans started out in Africa as a band of hunters and gatherers. And over the last 100,000 years, they've colonized all these far flung regions of the globe, and they've adapted to the different environments of these regions. And they even change the environment of these regions, such that new species during the Neolithic started to appear in these new niches that the humans have created.
And through selective breeding by the people, they have diversified greatly so that now we're looking at a world that's full of organisms that didn't exist 100,000 years ago, which is a blink in geological time. And all of this diversity is as a result of humans, and occurred before we even knew what a genome was. So in fact, it wasn't until the 1850s, when a man named Charles Darwin, at about the same time that Ezra Cornell was founding this University, realized that the way that we breed our organisms with artificial selection or domesticated species, is also the way that natural selection can work with descent by modification.
And that, in fact, all of these species are part of this evolutionary relationship with each other. And of course, he didn't know what a genome was either. But at the same time he was doing his work, Gregor Mendel was in the monastery working with his pea plants and recording the traits of his peas and crossing the peas and learning the rules of inheritance. And so combining these ideas over the next decade, several scientists were able to develop the field, a unified field, of genetics using other model organisms like fruit flies and guinea pigs to set the stage for 1952, when finally the structure of DNA, which is what we figured out was the molecule of inheritance, was deciphered by Watson and Crick and colleagues.
And so that structure, as we all know, is double-stranded helix. And along this helix, the steps are nucleotide bases. And this is the structure of the code. So the a A's always are bound to Ts. Gs are always bound to Cs. And the relative order of the As, Cs, Ts, and Gs are what the genetic code is. And that's the blueprint for the life form that contains it.
So of course you inherit two copies of every single chromosome. And so if we zoom in on a section of a chromosome of interest, say a gene of interest, that we know encodes a trait, we can compare the copy you got from your mother and the copy you got from your father using methods that have been developed, first with gel sequencing, and later with capillary sequencing. We could actually read through the strands of these DNA and look at the places, the location in the DNA, where your mother and father have different copies that they transmitted to you.
And we can also sequence the DNA of other individuals at this genetic locus. And we can identify all the places where humans might have variation in this gene. And we can even sequence our nearest living cousins the chimpanzees, and we can see where humans and chimps are different and the differences that make up that.
It takes a lot of sequencing to find these differences. So two humans share 99.9% of all the letters. So 1 out of 1,000 is about the expectation for the number of differences you're going to see. And even a human and a chimp or at least 98% similar on this base pair nucleotide level.
So the real question is, if we want to comprehensively understand this, we need to sequence the whole genome. And how do you go from sequencing a single locus to sequencing 3 billion base pairs? And so this was the goal of the Human Genome Project, which took 13 years to do in $3 billion, but the vast majority of the genome, as a result of this project, was sequenced to 99.99% accuracy.
And surprisingly, only 1 and 1/2 of the genome actually encoded genes. 10 times more of it was involved in regulating the genes to determine the cellular processes and how those are being conducted. As a result of the Human Genome Project, methods for sequencing improved and became faster and cheaper. And the method that's now primarily used is called shotgun sequencing, which on the surface seems like the exact backwards way to try to get a whole entire chromosome in genome read.
What you do is you take a genome and you take lots and lots of copies of the genome. And then you break it up into a million little pieces. And then what you try to do is you try to glue the pieces back together again. And the reason why this works is because we have next generation sequencing technology now that can very effectively read off the base pairs from very short fragments.
And we have a human genome reference that we can use as a scaffold to align all these small reads to. And we have the computational power that we can take these billions and billions of reads and get them to line up, and then identify where there's differences in the reads that reflect variation or differences between the individual and the reference genome. And we can do this not just for humans now, but for all these other genome enabled organisms.
So this genome sequencing has accelerated as the cost for doing the computations and the sequencing machines have improved, to the point that at the end of the Human Genome Project, it cost $100 million to do a genome. And today it costs $4,000 to do a genome. And so as a result, there's almost a quarter of a million sequenced human genomes out there. So that's 50 petabytes of raw data.
So we have to talk to the super collider folks to figure out how to manage all of this data. And of course, that's just the humans. We sequence lots of other species now at Cornell and at other research institutions or in medical settings. We sequenced not just an individual's genome, we can sequence the genomes of the microbes that inhabit that organism. And that also influence traits.
And we can sequence aberrant cells within an individual. And we can sequence tumors to identify driver mutations or ways that we might be able to treat a malignancy. And more recently, we started sequencing RNA to look at gene expression, so the pattern from DNA to RNA to what we see now, as well as recognizing that there's not just one genetic code, the nucleotide sequence. But there's also a second code on the backbone where we can methylate or put other marks on that control gene expression.
And so we've developed sequencing technologies that we can see that, as well. And so that's all going to be the basis of the following talks. But also, getting back to the diversity thing, not only have we sequenced a lot of the diversity that we see in life today, but we've been able to go back into the past. And so from a single finger bone in a cave in Croatia, we've been able to get a nearly complete Neanderthal genome sequence.
And even more surprisingly, from another finger bone in the tooth in Siberia, we were able to sequence the genome. And the result of that genome turned out not to be human or Neanderthal, but a third archaic hominids that was unknown to science until sequencing occurred. And in fact, we can see that there are patterns of integration, mixture between humans and these other archaic hominids, such that the vast majority of non-Africans have 2% to 20% of their ancestry descended from one or both of these archaic populations.
So it really is an exciting time to be a geneticist. And the insights that we've gotten go far beyond agriculture and medical settings, but really get to the base of human diversity.
[APPLAUSE]
STEVE HILL GARTNER: OK. Our next speaker is Charles Aquadro, Chip Aquadro. He's the Charles A. Alexander Professor of Biological Sciences in the Department of Molecular Biology and Genetics. And he's also the director of Cornell's center for comparative and population genomics. Dr. Aquadro's research focuses on discovering basic principles that determine the amount of genetic diversity that exists within and between organisms. And he's interested in ways to maximize human health by incorporating genetics into medicine.
He also teaches a special university course on personal genomics in medicine, which draws students from 20 different majors across campus. So I'm very pleased to invite Chip to the podium.
[APPLAUSE]
CHARLES AQUADRO: Let's do a quick switch here. So let's get the right clicker here. Adam has done a nice job introducing a few many of the exciting new features that have been revealed about the genetic basis of life and of the diversity we see among different organisms. Descriptions of the genome, a variation of all sorts of aspects, populations, and so forth.
And one of the challenges with this kind of information is that there's a virtual sort of just avalanche of terms and ideas and concepts and principles behind all this. And in fact, one of the real challenges that I want to talk about is engaging the broader audience. You, today, came. You chose to come to this. Cornell has, in fact, 14,000 undergraduates. And the public, there's much larger group of individuals, for which actually trying to really understand the concepts and principles in both the power and promise. But the limitations of this information can be a real challenge.
And in particular, I want to talk about targeting undergrads and addressing the challenge that, for many students, they hear about all this. And they say, well, it's fine. But I'm not a genetics major. So why should I care about my genome? Why should I care about my genetic variation?
Let's just take a few minutes and look at some examples that I think make it relevant to everybody. The first, let's consider this ad that several years ago the College of Ag and Life Sciences, some students there, organized. We've all seen these got milk ads. And the logic behind this, of course, is that milk is nutritious. Milk is a good source of nutrition and calcium and things like that. And so, in fact, should be a source of nutrition for everybody to, in fact, use.
But in fact, milk makes some Cornell students and some people in the world actually sick. And that is because they have a variant for this gene that breaks down the milk sugar, this lactose, into products that can then be digested. We're all mammals. And when we're born, we suckle, nurse, get milk from our mother.
But after a few years, we stop. We switch to solid foods. And historically and evolutionarily, primates basically turned off this gene that continues to digest this milk sugar. But in fact, associated with domestication, as Adam talked about, humans, because of their spread around the world and adopting different cultures, taking advantage of different opportunities, developed, in fact, domestication of cattle and other dairy animals, both in basically Western sort of Asia, sort of Middle East, Western, Eastern Europe, as well as independently in pastoral parts of South Africa.
This led, in fact, to natural selection favoring the fact that some individuals that were able to not get sick by drinking the milk with lactose as an adult, which causes digestive problems, and so forth. If you don't break that down, the bacteria in your gut basically decide to have a good time. And that leads to lots of pleasant symptoms.
These areas can digest milk. But historically, ancestrally, many of these regions, particularly in red, are not able to. They simply lack the genetic change that was selected for by the opportunity to get additional nutrition with milk. So this is an example of a genetic variant that actually affects the very real aspect of people's lives. And it has a very interesting evolutionary history. And also, it reflects the fact that individuals with ancestry in different parts of the world differ in genetic variants that can have a fundamental impact on your wealth and well-being.
Let's look at another example. This considers the fact that the NCAA, in 2010, basically proclaimed that all Division I athletics teams were going to have to have testing for their athletes for sickle cell trait. Sickle cell trait is a mutation associated with the hemoglobin molecule that is what carries oxygen in your blood.
And in fact, this particular mutation turns out in regions where there is malaria, actually is protective of malaria, basically leads to a cellular condition for which the cells don't actually grow that well. Malaria doesn't grow that well in the cell. And so those individuals have an advantage. But in regions like the United States where we don't have a prevalence of malaria, it actually can cause problems.
If you get really dehydrated, really stressed, it can lead to clotting, and in fact, tissue necrosis and even death. And in fact, there were a number of athletes that were found after they died in training to have sickle cell trait. So in order to prevent further deaths, the NCAA made this proclamation.
It's now all Division I, Division II, and Division III schools. And this is not a trivial number of students at Cornell, for example, that are being genetically tested, if you will. In fact, there's roughly somewhere up to 1,400 undergrads at Cornell that are student athletes. And one of the many varsity sports, that's basically 10% of the Cornell undergraduate population, are required to sign other waiver that they don't want to take this testing, or to, in fact, present results showing that they don't have it.
Or if they do have it, supposedly the trainers and the coaches are not supposed to bias against them. But you're supposed to target specific treatments and be very cautious about these students when they're exercising. So this is a very real thing, that actually, I've talked to a lot of student athletes and they really didn't understand the consequences of this.
What effect would this have on-- this testing have for other aspects of their life? And I also want to touch on a more personal thing that maybe has touched the lives of some of you. This was an individual, Maki Onata, is an individual, Maki Onata, who recruited as part of a spousal hire of a faculty member in our department Molecular Biology and Genetics in 2007. They came from the Bay Area of California.
And by the fall and winter, she started having a chronic cough. Figured it was just being exposed to new germs and things like that. But a number of us convinced her to go to the doctor and check it out and make sure it wasn't a problem. And the physician said, take these antibiotics. Call me in a couple of days if it doesn't seem to improve. It's probably pneumonia if it doesn't improve. And we'll just take an X-ray to test it.
Well, in February 2023, they took an X-ray. And in fact, the results were stunning. Because there was this giant tumor in the upper left lobe of her lung. And this was an advanced, basically non-small cell tumor, cancer tumor, lung cancer. And fundamentally, the diagnosis at that point was that she had six months to live at best.
But in fact, cancer, as its root, has a cause of mutation. And so one of the aspects that is really expanded in the application of genomics is human health is, in fact-- and other animal health-- is to sequence tumors themselves to find out what are the mutations that have occurred in those cells that lead to the cancer.
And in this case, actually it led to identification of a particular mutation that, turns out, responded to a particular drug that had failed general clinical trials. And this is a drug called Tarceva. And in fact, it turned out to only really work well in individuals of women of Asian ancestry, particularly non smokers. And that described her.
Essentially, racially profiling herself or ethnically profiling herself as an Asian woman, she basically, they were able to apply the drug to her. And within several months, in fact, the tumor shrunk sufficiently, that they were able to remove it in basically July of that same year. She's now an assistant professor at Ithaca College. She has a child a couple of years ago. She's run triathlons.
And so she still struggles. Cancer is insidious, and other mutations occur in things. But nonetheless, she clearly improved the quality of her life dramatically. So knowing something about your genome actually can have a big impact on the quality of your life.
The questions, of course, are how does this information-- what information is really in our DNA, in our genomes? How do we read this information? Adam talked about how we read off the letters. The real challenge in biology now is to understand what all those letters really mean. It turns out that much of the genome actually encodes parts of the genetic information that really orchestrate how the notes, in some sense, of the symphony of life are played.
The notes, if you will, are the genes, the proteins, the enzymes. And they only take up about 1% or 2% of the genome. The rest of it orchestrates when these genes turn on, when they turn off, and things of that nature, to, in fact, enact development of individuals we see today. So the challenge here is interpreting this information also in the context of ancestry. Because the ancestry does matter.
This also raises questions about, do I want to know? For some diseases, Alzheimer's, for example, there are, in fact, certain genetic variants which you have a high propensity of developing Alzheimer's if you have certain variants. At this point, they're medically unactionable. But they're personally actionable. Do we want to know, or don't you want to know?
How do we deal, as a society, with the fact that we can find that information out? And how do we deal about it personally? And, of course, what are the legal implications of genetic testing, both in terms of insurance rates and in terms of employment? There has been a genetic information non-discriminatory act that was, in fact, enacted into law in 2008 in the United States. But it doesn't actually cover every circumstance.
So it has limitations. There still is opportunity for you to be discriminated against based on your genetic variants. And this, of course, leads to lots of ethical issues and social issues-- excuse me-- as well.
I want to take a minute and just talk about where this genetic variation, how we actually think about this. And what can we learn from the genetic variation that Adam talked about-- this vast diversity of variation among humans that we see. And in fact, if we think about populations, the population really is just a group of families.
The family here in human genetic sort of diagram here is a male and a female. And, in fact, they have four children. These two children don't happen to have children. This one does, marries this one. They have children.
And if you follow it out over time, this group of families basically over time shows the transmission of genetic material through time from those individuals. We all inherit genes from our parents. We pass them on to our children. And you can see I sort of highlighted one particular lineage going down here.
And this is, we're simply tracing what happens to a particular allele up here that has happened to be passed down through time. And it just happens to keep going through individuals that continue to have children. This leads to a genetic sort of lineage, like this, essentially.
And one of the things about these kind of lineages is that over time, every generation, mutations occur. Errors in our DNA copying mechanism actually cause mutations. And in fact, we actually differ by about 60 mutations that neither our parents had. They occurred during the copying of this, the two copies of the 3 billion nucleotide genome.
And so over time, we accumulate different mutations in different parts of these genealogies. And if we're just focusing on one little small segment, only five nucleotides appear. At the endpoint of this, our sequences now have differences that have accumulated. The longer the time, the more differences that accumulate.
These individuals here, very closely related. They're siblings. They, in fact, have identical DNA. These individuals very far apart have quite different DNA. This actually is the basis of understanding the inheritance of diseases by following diseases and pedigrees like this. It's also the basis by looking down here, and noting that these are identical, these are slightly more different, and so forth, that allows us to look backwards in time, much like Adam talked about with regard to hominid evolution.
It's also led to within humans to a really remarkable discovery of the spread of humans in a very short period of time. In fact, the human lineage goes back millions of years. But in fact, if you look at essentially all anatomically modern humans today, we all trace, in our genealogies, from-- I'm sorry, this map didn't show up-- from an African ancestry down here, to, in fact, lineages that dispersed throughout the world, including to the Americas, including to Europe, to Oceania, to Australia, and throughout Africa, as well.
We actually have the genetic sort of storybook of our ancestors in our genes. And everybody's interested about their ancestors to some extent. And so we've, in fact, basically picked up on this to, in fact, try to engage students to think more seriously about the genetics that underlies ancestry inference as a way to bring them and introduce them to the basic concepts that are relevant to understanding the impact that could have on their own lives through medicine.
And this is a picture of students, 200 randomly chosen students that we surveyed together with National Geographic in 2011, to sample to see just how much diversity was there if we truly randomly sampled volunteers of the Cornell campus. And the remarkable thing was that group of 200 students basically hit every single major lineage of diversification around the world. And truly, Cornell is a global institution. It draws students from all over the world.
We've now sampled over the years in this class I teach, now a total of 450 students, most recently Spencer Wells of National Geographic. And I just revealed to the students the ancestries of this latest class of 108 students. And they, likewise, show this amazing diversification of the regions in which their ancestors come from, including Native American, South Asian, East Asian, Middle East, African, European, and so forth.
What's even more remarkable is that some of our students actually have essentially representatives within the last 10 generations of all of those ancestries. They don't fit in any pigeonhole, so to speak, in terms of ethnicity or genetic ancestry. In fact, they have remarkable diversity.
And this is, in fact, a real challenge to aspects of medicine that use, in fact, race as a basis for making decisions about potential risks that an individual might have. And there are, in fact, drugs that are developed and used specifically in African-Americans, for example, because there's a higher prevalence of certain diseases associated with diabetes and cardiovascular disease there.
But in fact, many individuals actually have ancestries that, in fact, different parts of their genome go to different parts of the world. And in fact, the selection and other things that acted there, and simply chance in some cases, have led to differences that actually are medically important and of concern.
So this leads into many challenges that other speakers are going to continue to flesh out here, is how do we expand participation of the public in understanding this? What are the cost factors associated with this? What are the insurance issues? How do physicians, in fact, deal with this information, since most of them have not been trained in genetics and to deal with this information? How do we make decisions about children in lifestyle?
Some of you may have seen the recent analysis of an embryo that was, in fact, genetically modified by a Chinese group. This raises lots of questions and lots of concerns. And how do we most wisely use that? The real key, I think, is that we have a fundamental real opportunity here by engaging students from across the campus because of a general interest in ancestry. But also realizing that it really impacts them. And it's really that broader dialogue with students from all different disciplines and people of all different disciplines that is going to inform us to use this information wisely in society. Thank you.
[APPLAUSE]
STEVE HILL GARTNER: Yeah. Thank you, chip. Margaret Smith is a Professor in Plant Breeding and Genetics. She focuses on corn breeding. And since 2008, she's been the associate director of the Cornell University Agricultural Experiment Station.
Her research and extension is related to issues in plant breeding. And her work on corn focuses on breeding for productivity, improving insect and disease resistance, and adapting varieties to more sustainable production systems and breeding for organic systems. So I'm delighted that she's with us today. Margaret.
[APPLAUSE]
MARGARET SMITH: Wonderful. It's always wonderful when the clicker works. Thank you for coming today. We're going to take a move now from the world of humans and animals into the world of plants. And I'll talk a little bit about the genomic revolution in crop plants, which in my home department of plant breeding and genetics, we talk about the track from DNA to dinner.
As you all know, moving into the future, sustainable livelihoods really depend on these things-- food, feed, fiber, and fuel. And all of those, ultimately, traced back to plants. So plants are critical to our ability to continue to sustain ourselves moving into the future. We've all seen population diagrams like the hockey stick one on the top there.
Global population growth continues. The rate may be slowing. But our population will continue to grow for some time into the future. I find it fascinating when you think that from the dawn of humans to 1800, we gained a billion people. The next billion took 130 years, then 30, then 14, then 13, then 12. Now we're probably moving up a little into longer times for adding a billion people.
But that factor is fairly unnerving to somebody like me as a plant breeder. That's combined with the fact that all those people need to live somewhere. So if you look at arable land per person, back 50 years ago in 1965, we had almost 0.4 acres. That's now down to 0.22 acres, and bound to go down further.
So speaking as a plant breeder, somebody who thinks about the genetics of crop plants that help to feed us, feed our livestock, provide fiber, and fuel, we're going to need to make those as tremendously productive per unit of arable land as we possibly can moving into the future.
So where does the genomic revolution come into play there? Well, when people think about that, for many people, the first thing that leaps to mind is genetically engineered crops, or GMOs. And we have, in fact, benefited from a number of these.
We have insect resistant crops like corn and cotton, with genes derived from a bacterium that helped them to protect themselves from damage by insects. We have herbicide resistant crops-- these two, as well as soybeans, canola, sugar beets, alfalfa, that facilitate wheat control. We have virus resistant crops-- squash and papaya, engineered with a gene from the virus, much in the same way that you would be vaccinated with a disabled disease organism to provide immunity to that organism. These genetically engineered virus resistant crops have a little piece of the viral genetic material put into them. And that makes them, then, not able to be colonized by the virus.
And most recently, some of you may have heard about crops that are actually improved in terms of their quality for human consumption. So finally, something that looks like a consumer trait, rather than something to benefit just producers. Those would include this innate potato, which has less susceptibility to bruising, as well as lower potential acrylamide production, something that may be damaging to human health. And this apple, which browns less rapidly as it's cut.
So genetic engineering has given us some benefits. It's certainly reduced the amount of yield that is lost to insect damage, weed pressure, viral diseases, or quality losses. But something it has not done is to actually increase the potential yield, in other words, the amount of crop production you can get per unit of arable land.
That is a complex thing, because crop yield is an integrator of all of the genetic processes in a crop. And from my previous colleagues speaking here, I'm sure you have a sense of how complicated and many faceted that entire genome structure and function is. So this is a complicated thing that will need to take us beyond genetic engineering.
So what has genomic information done towards that end? One thing it's helped us to understand-- and you've gotten this from the two previous speakers very well-- is the genetics of traits. How is variation partitioned? I like this picture because it highlights something we've already heard about this morning.
If you pick two ears of corn at random, they differ in their genetic sequence, their genome sequence, by almost 1 and 1/2 percent. Humans, about 0.1%, and humans from chimps, less than any two corn ears differ from each other. Think about that for a moment, OK.
So this is why I work with corn. We've got a lot more to work with. So it's helped us to understand the structure of genetic variation. It's also helped us to understand how things are controlled biochemically and what genes allow for that, for example, production of pro vitamin A in corn. You can get things which have much higher potential for vitamin A if you consume them as food than those really yellow corns. And we know exactly how that pathway works and what genes affect that.
Similarly with physiology, things like tolerance to drought or to nitrogen stress or to cold or flooding. We're beginning to understand the genetics that underlie differences between a corn that's dead at flowering, and one that's still green. So that genomic information has helped us to understand all of those things. With that knowledge, we can do several things.
Knowing which genes are important to a biochemical process or a physiological stress tolerance, we can search among all that variation that is in corn for the optimal gene, mine the diversity to find genes that would do that better. This little brown line on a corn leaf is a trait called brown midrib. It has reduced lignin, which makes it a much better silage or forage feed for cows.
Knowing how those things work in a biochemical or physiological sense also lets us better foresee where the trade offs are going to be. Because like anything, there are usually trade offs. This brown lignin may be more-- brown midrib may be more digestible. It also tends to have weaker stock. So if you get a big windstorm, you can have this. And it also tends to be susceptible to certain diseases.
This we haven't really figured out the biochemical connection. But we know it's there. So that knowledge will allow us not only to mine the vast diversity you find in a crop like maize more effectively, but also try to foresee where the problems will lie and circumvent them.
Often people ask, well, so is this going to be the designer plant where you go in your laboratory and you assemble all the genes we need to make the perfect plant? And I would argue that that's very unlikely. The genetic code-- you know, here's the example, the tomatoes on the top, the potatoes on the bottom. Everything else in the world, this crop is going to do.
The genetic code is a fascinating thing because it provides for a lot of ways to get to the same or different endpoints. I mean, you just heard from Dr. Aquadros talk about how mutations accumulate. The complexity of the genetic code allows it to do all these different recombination and mutational experiments, so that I can look at a plant and ask, what is it that makes this plant yield as much as it does?
But that's not going to tell me, how am I going to make a plant that yields even more than that? That's going to tell me how to get back to that same endpoint. But recombination in the genetic code provides experiments that are built into nature that might allow different ways to get to something even better. And the interesting that I find is that the DNA and the power of genetic recombination is a model that engineers are now looking to for a way to solve complex design problems.
So they're taking this natural process and adapting it to try and answer things they can't figure out through the engineering approach. So I very much doubt that we're going to have designer plants that will be superior that are going to emerge from sitting in assembling a particular sequence of genes. But what we are going to be able to do is use the genomic revolution in crops to really harness the power of those techniques, to increase our understanding of how crops work.
Combine that with the ability to capitalize on this amazing power that exists in nature of recombination mutation, and continuous experiments that happen with each generation of plants or animals or humans, to reach different endpoints. And it's going to be that combination of understanding and the creative power of DNA and evolution that will hopefully allow us to move to a place where we have tremendously efficient crop plants, very productive on small amounts of arable land, that will allow us to move successfully into the future in a sustainable way. Thank you.
[APPLAUSE]
STEVE HILL GARTNER: OK. Our next speaker is Dr. Rory Todhunter. He's a small animal orthopedic surgeon. And he helps oversee the Cornell veterinary biobank, which was established in 2005. Dr. Todhunter studies the genetics of orthopedic disease in dogs and cats. And the goal of this work is to reduce the severity and prevalence of inherited orthopedic traits in dogs and cats, using genomic selection of dogs for breeding and the discovery of causal mutations that bring about these traits. So Dr. Todhunter, it's a pleasure.
RORY TODHUNTER: Thanks very much.
[APPLAUSE]
Thank you. So we may not have designer plants, but we have designer dogs and we have designer horses and designer cows and designer pigs and designer poultry. And it goes on and on and on. So humans have undertaken a grand experiment, in which we have actually, by default, not through wanting, but just by the way we've bred animals, we've actually concentrated deleterious alleles in purebred populations of animals.
And by doing that, we've been now able to find out what some of these genes are and how they cause disease. So we've done an experiment that now we can use to try and help human beings, as well as dogs and cats, and horses and cows. And you'd wonder why a surgeon will be interested in studying genetics.
Well, because in orthopedics, at least the way we bred dogs, most of the conditions that are inherited in dogs, large and small, that I study result in joint disease. And joint disease results in arthritis. And arthritis is an irreversible progressive condition for which there's no specific treatment except chopping things out and putting synthetic things back in again.
Who's had a total knee, a total joint-- anybody in the audience-- had a joint replacement? Yes. OK, and I've got two ankles that are fused. Because I have an underlying genetic predisposition to having angular limb deformity in my leg. So now we can understand what the genetics are. And hopefully we can then predict who's susceptible, isn't susceptible, and then introduce better therapies early on if we understand what the molecular mechanisms are.
So if you go to this website online, Mendelian Inheritance in Animals, which is the derivative of Victor Mckusick's human equivalent, you can see that there are many inherited disorders in animals, about 3,000 or so, and about a proportion of those are simple mendelian disorders for which the genes are starting to be understood and the mutations identified and genetic tests developed.
But the rest of those are sort of complex disorders, which is a little bit what Margaret was talking about, many genes that act together to give you an inherited trait. And the one that I study is hip dysplasia in dogs, which results in arthritis. And it's estimated that 30% or 40% of humans that require a total hip replacement in their 50s and 60s actually had hip dysplasia when they were very young, and it was imperceptible. It wasn't picked up.
So why does this happen? Because we do line breeding. We do the reverse of what Adam has been talking about. In humans we generally breed randomly. We move about the world and we meet people, and we fall in love and we produce offspring. Whereas in dogs and cats and horses and cows and poultry, we forced them into this line breeding so that if you breed two purebred dogs together, labrador, let's say, you'll get a Labrador offspring. If you breed two golden retrievers, you get a golden retriever.
And that's because of the way that we line breed. We breed back to the antecedent generations. We breed among related dogs. And when we do that, we concentrate deleterious alleles in the population.
So look at this horse-- Poker Buono. This is America's most popular stallion for-- it's a cutting horse. It's not a racing quarter horse. So this horse produced 405 foals in the 20 years that he was at stud. So he actually is half of the American court of horses that ascending from this individual stallion.
He happened to carry this herder mutation, which causes thin skin on the backs of a horse. So if you put a saddle on an a cutting horse, you're going to knock its skin around. If it's already got susceptibility to stretch his skin, that horse cannot be ridden. And it turns out that still about almost a third of cutting horses in the United States carry this herd of mutation.
We know what the gene is now. And there are genetic tests for this disorder. So you can only breed heterozygous individuals together to an unaffected animal. And you can still propagate the breed. But this is what we've done by the line breeding that people all over the world have been doing.
What about dogs? Well, we looked a few years ago at 250,000 hips scores of Labrador retrievers in the Orthopedic Foundation for Animals database in the United States, which is established in the 1960s. What we found was that one of the males in that pedigree had produced 807 litters. How many pups does a Labrador retriever usually produce per litter? About 10, 12.
So about 8,000 of those dogs' offspring have been in the United States Labrador retriever population, which is one, if not the, most popular breed in the United States. If that dog carries a heritable trait, that trait is propagated through those thousands and thousands of dogs the way that we have line bred.
So we do genetic screening. And we're trying to get better at it. We do what's called phenotypic screening. So we take a radiograph. We screen for elbow dysplasia, hip dysplasia in dogs. We can combine the phenotype and the pedigrees like the previous speakers have been talking about. And we can produce breeding values. So we can estimate the genetic quality of an animal to produce unaffected or affected offspring.
And we do this effectively in producing the best meat quality animals-- poultry, pigs, the ones that grow the fastest. So we don't feed them so much so that we can eat them earlier and they taste better, and the meat's gentler and softer, et cetera, et cetera. So we can do that for dogs, too. And we have provided these estimating breeding values at a website at Cornell.
There are genetic tests available for dogs now and cats-- about 100 for dogs, and 50 or so for cats. But of all of the ones of the thousands that I already showed you, we know we've got a long way to go. We've got a huge lot of work to do.
So in 2005, we established this biobank at Cornell because it became possible, then, to just look at cases and controls and try and map or find these markers and genes that contribute to all of these traits that bred into these animals by pure line breeding. We have a reservoir now of about 15,000 animals. And we're continuing to accumulate them.
These are animals that are coming through our hospital or that individual principal investigators have acquired over a number of years of study. And now we've genotyped about 5,000 dogs and 800 horses. And Adam, whom we collaborate with, has sequences now on about 250 odd dogs, whole genome sequence, on these dogs. And are now whole genome sequencing cats. And we do that in collaboration with Leslie Lyons at Missouri.
And she's got an online foundation, a sort of group where she's trying to raise money to sequence more cats. And if you have cats and you want to have your cat sequenced, you can contribute to this endeavor. And she calls it the 99 Lives Process. So she wants to sequence 99 cats. And it will become, eventually, 100 cats and 1,000 cats.
And we know that Obama is trying to sequence a million veterans across the United States. So whole genome sequence is just becoming the norm. So that in another few generations, children will have their genome sequenced. And then will have all of the problems that Phil and others have talked about, about what do we do with all of the information?
We also we also keep tissue in our biobank leftover from surgery, tumors, et cetera, that go along with the genomic information to try and link the expression together with the mutations. And this is why we do it. Because this has been pointed out, over many generations, this is what happens to the relationship between an individual mutation and a genetic marker or a nucleotide base that Adam was talking about. Over the process of recombination, we've been doing this well before Cornell was founded, probably 100 or so years before that.
But over the last 200 or 300 years, most of the purebred animals that we use for feed and for pleasure and for pets and company have been developed over that period of time. And over that time, through recombination, you can see that this mutation continues to segregate with this particular A allele.
So what we do then is just step through the genome. We try and find an association between the form of the allele in the population and the controls in that population. And then eventually, once we find that there's a strong association, then we know there's a marker near this mutation. And then we sequence through the area and try and find the mutation.
But for most of the conditions that we're interested in, and I'm interested in, these are complex conditions. It's not a single gene. It's multiple genes. So although we can do all of this genotyping-- We genotype now over 4,000 dogs, at 183,000 markers per dog. And we've identified a number of regions of the genome associated with inherited diseases in these animals.
Hip dysplasia occurs in children. 1 in 1,000 births of children, the babies will be dysplastic and they're screened in hospitals. In humans they don't know what the genes are. So we can do a comparative mapping now and try and work with human geneticists and orthopedic surgeons to try and see if there's commonality between the canine disease and the human disease.
Idiopathic epilepsy, some of the genes are known in people, but not all of them. So we can study epilepsy in dogs and find the mutations and see if they also are affecting humans. Then we can go from humans back to dogs and look at the same genes.
Lymphoma is a huge issue in human medicine. But dogs get lymphoma. So we map in dogs. We map in humans. And we go back and forth. Granulomas colitis, or Crohn's disease, French Bulldogs granulomas colitis. And it's a nice model of the human condition, which destroys the lower GI tract of people. They need resections. And it can kill you.
Adam studies complex morphological traits, body size, full length, and all of these are very nice models of complex traits that cause disease in animals. So we know that we can now do this with about 500 to 1,000 cases and controls. And if we see 18,000, 20,000 animals in our hospital every year and we keep banking the material, and other universities do it and other foundations, then we're going to start to understand what's causing a lot of these problems.
And most of these diseases and traits have homologs in humans, as I pointed out. So if we find something in a dog, a horse, a cow, a pig, then we can also see if it's affected in the same condition in people. And we can go from people back to dogs and horses, back and forth.
Before we find the mutations now, we can also use all the genomic information together, all of the markers, to try and predict what susceptibility and resistance is. So we don't even have to know what the mutations are now. If a marker is near the mutation and it's always segregating, then we can compile these markers together and predict susceptibility.
So this is a case control study of hip dysplasia. And if we only have a few hundred markers, we can pretty well correlate between the markers and the condition quite well. Now, this is not a 100% heritable problem. This is a complex trait, where maybe a third of the variation is due to the genetics, and two thirds, like Margaret was talking about, is due to the environment.
So these animals grow faster. If you restrict growth, if you don't feed them well, if you overfeed them, or too much calcium, et cetera, you can exacerbate the condition. But if it's only a third heritable, we can show that we can predict most of the heritability just by using the genomic information in the subset of these markers. Thanks very much. That's the group that helps me do this.
[APPLAUSE]
STEVE HILL GARTNER: Sorry. My microphone caught on my chair. Our next speaker is Phil Reilly Rory, did you walk off with the--
RORY TODHUNTER: I'm sorry. [INAUDIBLE]
STEVE HILL GARTNER: Phil Riley. Phil Reilly is a clinical geneticist. And he spent most of his career in academic medicine. And he's long been involved in ethical and policy discussions about the use of genetic information in medicine. For the last seven years, he's been working at Third Rock Ventures in Boston, which is a venture capital involved in starting up novel biotechnology firms working on rare genetic disorders. And actually, I've assigned some of his writings in my classes. He's written several books.
And he's got a new book coming out-- Orphan, the Quest to Save Children with Rare Genetic Diseases, which is written for a lay audience, and is coming out this summer. I guess it can be ordered online now with Cold Spring Harbor press. So it's a pleasure to introduce Phil Reilly.
[APPLAUSE]
PHIL REILLY: Good morning. It's great to be here with my fellow Cornellians. I really, in the 10 minutes I have, want to explore with you and hopefully get your feedback, on what I think is one of the most profoundly important questions raised by the genetics revolution. What impact will genetic information have on the future of human reproduction?
So to do that, the first eight slides, or seven slides, are just going to lay the groundwork where we've been. And then in the last two slides, what I'd like to do is write some issues that hopefully you'll talk about with your friends and spouses, et cetera, in future days.
So this is a great view of the history of prenatal diagnosis. I will not read it to you. I'll let you read it while I summarize it. But what you'll see is until about 1956, we didn't even know what the correct number of human chromosomes was. Imagine that, when today Adam is talking about accurately sequencing 3 billion base pairs. We've come a long way very quickly.
During the three the last 30 years or so, we've moved from being able to warn couples about chromosomal disorders in the fetus, such as trisomy 21, Down Syndrome. We've been able to warn them about a polygenic, but heavily genetically driven, risk for spina bifida. And more recently, we've targeted prenatal testing of couples at risk for very severe fatal disorders of childhood, which I was very involved early on with some of the testing for Tay Sachs disease. And if we had more time, I'd tell you that story.
But just one example is that in a place like Italy, where beta thalassemia and other single gene disorder is very common, targeted use of screening of populations has tremendously dropped without the use of abortion. I would hasten to add, the live births of individuals by affecting mate choice, carriers of one gene, avoiding carriers of the other gene in terms of marrying.
The other thing I want to call to your attention is-- and many of you may not think about this, but if you were born after 1962 in the United States, or if you had children born after 1962, they have virtually all undergone ever widening genetic testing. The key principle of newborn screening is only test if you have a meaningful intervention to help the child. And there could be a lot of debate about what constitutes a meaningful intervention.
What I'm going to talk to, I'll mention the tandem mass spectrometry, is a technology that greatly expanded newborn screening. It raised some ethical and public policy debates. But in the end, I think if it is a dress rehearsal for DNA based new newborn screening, which will explode by two or three lots the number of disease conditions we could test for. Raises a lot of questions I'll come to at the end.
And as Adam has suggested to you, or implied in his talk, is the cost of DNA testing, which he said has fallen to about $4,000 per genome, is almost certainly likely to fall much further. Indeed, I know of companies that are thinking about giving away DNA testing so that their business models to make money on curating and archiving the information.
So one thing there is no doubt about is that we are already, not now, not in the future, but already, we are awash, all of us are in boats and a vast sea of genetic information that will affect our lives in ways we do not yet know.
So when you think about prenatal testing, what you're thinking about is information provided to a woman or a couple that will influence the decision about pregnancy. Not always is it pregnancy termination. In fact, many times genetic testing is used to help couples go forward with the pregnancy. But it's interesting that thus far, until very recently, the impact on the incidence, that is the number of live births of individuals with a particular condition, has not changed too much.
I'll just take the example of Down Syndrome at the top of the reading. In fact, we have about the same percentage of births in Down Syndrome, about 1 in 1,000 individuals, let's say, now, as we did 30 years ago, despite all these genetics. But why? The real reason is because so many women have delayed childbearing and there's an age associated risk of having Down Syndrome.
So by moving into your late 30s to have children, it much offsets the targeted screening of the rest of the population. But neural tube defects is a particularly, to me, a profoundly interesting paradigm for the future of genetic testing and human reproduction.
A story I know very well, but very briefly, from the time it was discovered in the mid '70s that certain biochemical markers were very predictive for the development of a severe form of spina bifida. That would be definitely life limiting, but certainly not fatal. The incidence of live births with that disorder in Great Britain fell by between 90% and 95%. That's did not do so so much in the United States, largely because of the different kind of health care system.
But it shows you the point there is only the power of technology applied by a system to change an outcome of a human phenotype. And I hope you're thinking right now about what constitutes health, wellness, or lack of health and wellness, when you're measuring the potential of a human fetus.
One more example here that's a very interesting to me, cystic fibrosis disease. I've spent a lot of my time thinking about. We are starting, without public discourse, we are starting, for the first time, to see a reduction in live births of children with cystic fibrosis, ironically, at the very time that we've started to develop really effective drugs for the disease. And that is because of the impact of some of this testing and the decision to, after the birth of the first affected child, say not to have anymore or to use it in avoiding at risk pregnancies.
This last year, the book I wrote, I had the really profound experience of meeting a young couple in which the 32-year-old man had developed Huntington's disease, a dominant disorder. He and his wife married. They faced a grim-- they face a grim future. They wanted to have children. They use something called preimplantation genetic diagnosis to avoid the conception and birth of affected fetuses.
So they are now, I'm happy to report, the parents of two very healthy fraternal twins who do not have Huntington's disease. And that is a growing use of-- the in vitro fertilization clinics in the United States are changing now to include screening for rare disorders. So IVF technology that you've heard about is now becoming an avenue, when matched with genetic testing, to avoid the births by selecting of healthy embryos of children with these profoundly bad diseases, like Huntington's disease.
Here's where we start talk about not so much the far future, but the near future. We are on the cusp of being able to analyze the entire genome of human fetus very early at low cost in time for a couple to make a decision about whether to continue that pregnancy. If you think about the past, when we started prenatal screening, we were looking at very isolated and profoundly disordered conditions that involve an abnormality with a whole extra human chromosome. We look for two or three of those.
But now to say we will have the capacity to interrogate almost as many questions as we ought to ask, perhaps hundreds or even 1,000 genetic conditions that are monogenic. The question again for you is, what constitutes sufficient severity to decide that this is a human phenotype that we don't want on the planet? These are the kind of profound ethical issues that Steve and others think a lot about.
So what's the future of carrier testing? You heard about beta thalassemia and sickle cell from Chip. We're talking carrier testing. We're talking about finding a mutation. And by the way, you all carry them, many of them, as do I. Finding a mutation that's only really dangerous for the most part, if you marry someone with a similar mutation and then face a 1 in 4 risk of having a child sickle cell or CF, or Tay Sachs disease, whatever it might be.
So what I'm seeing now is in my work, I see a lot of startup biotech companies all the time asking for money and things like that. And I'm seeing a growing, really tsunami of companies that are planning to offer populace to the degree they can, population-based genetic testing of people like Cornell undergrads to apprise them of future risks they might face depending on whom they marry.
The experience with Tay Sachs screening is a very interesting one. They're a motivated community. The Jewish community in the Western world decided in 1972, after a friend of mine, Mike Kaback, developed the test to adopt screening. And the number of children born with Tay Sachs disease fell 90% to 95% in the Western world.
So it's now so rare that it creates another problem that I'll talk about, which is that there's no incentive to develop drugs to treat the disease, because there's so few people. So here's what I want you to think about. The new standard of care that will affect some of you in this room, but certainly your children-- and not 30 years from now, but five years from now-- would be to offer to have the ability to get from maternal blood, noninvasively, fetal cells that can be broken open, just a single cell, have the DNA amplified and interrogated.
And ask, what of the problems that, say, Rory talked about, just talk about dogs, what kind of dogs, what kind of those problems lurk in the genome of the fetus? And we have to solve two things here. We've got to understand those variations. And one of the great risks that I see is moving too quickly, because we won't really know what to tell people about some of these variations.
So let's close here and let's gestate a little bit. We have a little bit extra time in this slide. So I've mentioned the variations. I mentioned the drug development. I'm very concerned to someone who spent 10 years of his life running an institution to take care of people with developmental disabilities. Writ large, how are we going to assess the impact of these tests on what we decide is normal and abnormal?
I know kids with spina bifida who grew up went to top colleges. Some families might have terminated those pregnancies. That's a choice they made one way or the other. I'm not advocating for one position or another. Will we slowly adopt a new kind of eugenics, technologically enabled, and actually driven by you, driven by the 1%, if you will. All of us want the best for our children.
One of the most interesting scientific activities I know in the world today is in a company called BGI, a genomics company in China, which on some days sequences more DNA than all other institutions in the world combined. Among other things, BGI has launched the $1 million Human Genome Project, the $1 million Plant Project, and most interestingly, is involved in a very deep study of the genetics of human intelligence, where they're sequencing thousands of people with IQs above 150. Not that IQ is a accurate phenotype for human intelligence, but that's what they're doing.
And also looking at other things. So there will be, I think in the future-- and it is still somewhat further away-- the irresistible urge to take where we are today, which is to use genetic information to avoid very serious disease that I think most of us would at least understand, to this seductive urge to try and see that if we could do with humans in some way, what we've done with plants and animals.
I mean, imagine if you were a musician, a family of musicians. And you could be told could screen for a gene for perfect pitch, of which there is almost certainly one. And you would want to know that at birth. Because what we know about human perfect pitch is that if you don't cultivate it early in childhood, it fades away as a phenotype.
So I think in closing, what we have to do here is be ready for the fact that certainly, carrier screening and prenatal diagnosis are going to be vastly different in five years than they are today. There'll be loads of information that currently unregulated, how are we going to manage the transmission of this information to women and their husbands about this? And should we put any limits on the uses of this information in terms of how we define what is a normal, healthy human being? Thanks very much. And hopefully we have some time for the questions.
[APPLAUSE]
STEVE HILL GARTNER: OK. So the panelists are going to come up to the front. And we're going to have a few minutes for your questions and comments. Yes, question.
AUDIENCE: I have a question for Dr. Reilly about prenatal testing. Is there any chance in the testing as of now that there would be an era whereby the [INAUDIBLE] mom and dad [INAUDIBLE].
AUDIENCE: Please use the microphone.
AUDIENCE: Do we have a microphone? Hi quick question for Dr. Reilly concerning the prenatal testing. I was under the impression at one point, but it may be different now, that there may or may not be any error when the testing is done in determining whether a disease is present, which can have obviously a very big effect on whether the parents continue with the pregnancy.
PHIL REILLY: Did everyone hear OK? So, I get this question a lot. And I always have the same initial answer. Any system involving humans involves errors. So I can give you some facts that I know about this. In the era of prenatal diagnosis where you did amniotic fluid to fetal chromosome analysis, about 1 in 1,000 cases was reported in the error. And the reason for the error was almost always a switch sample by a technician, where result A was was given to family B.
One always has to be concerned about errors. The error rate for DNA sequencing, because they do massively parallel sequencing and ask the question over and over again, is very low. Where I do think the errors would be is how the information is interpreted. Because there's no solid guidelines on that.
But I think it's very fair to be concerned about that. And then that, in turn, raises questions about regulation of laboratories and a lot of other things.
AUDIENCE: This would be a question for Dr. Smith. You didn't mention the downsides of some of these genetic advances, particularly with regard to things like resistances in corn, for example, becoming such that they have then become in need of additional treatment because now there's a resistance to whatever it was that was trying to be fixed. So I hear-- I'm asking, where is the end to this?
MARGARET SMITH: Yeah. Thank you. It's a good question. And I think that's a question that plagues us in any technology we use. We do our best to foresee where the downsides are. But no changes without some mix of both benefits and risks. I didn't want to spend-- I didn't have a lot of time, spent a long time talking about any given genetically engineered trait or other bred trait, to go into depth on what the downsides have been.
But don't believe that there are approaches that have no downsides. Every approach has its profile of risks and benefits. So the more we know, the more likely we are to be able to foresee where those problems might lie and hopefully stave them off. I don't know if that really answered your question, but it's probably the best I can do in the couple of minutes we have.
STEVE HILL GARTNER: OK, we have another question over here.
AUDIENCE: This is also probably for Margaret. How does one overcome the paranoia that a lot of people have about GMOs and in terms of the risks involved and versus the benefits.
MARGARET SMITH: Well, I spend a lot of my time giving public talks of various sorts about genetically engineered crops. So believe me, I think about this a lot. And one of the things I've learned from a colleague here who studies this from the communications standpoint is people like me, a scientist, you figure if you give people more information and more facts, probably that will help.
In fact, that's probably not so very helpful. I do think it helps to explain to people so they better understand what they're actually talking about, because many people are worried about it from a point where they don't even understand what it is they're really worried about. So I think that can help.
But what the communications problem, my colleague here, Bruce Lewenstein, had to say is that mostly what people want is to be able to engage with somebody they trust. And I think this area is fraught with perceptions in the news, on the web, and everywhere else, that are based on one sided views, either for or against it. Most of the information you get has only one perspective. And in fact, as I said earlier, any technology has both risks and benefits.
So if you can't sit and have a conversation with somebody about both of those things, then they're not really going to be very amenable to what you're saying. If they're concerned, and you're busy saying, oh, it's all just fine, that's not a credible position. So I think that may be one place where we have often gone wrong.
STEVE HILL GARTNER: OK, we're almost out of time so I'm going to try to get two questions in quickly.
AUDIENCE: Yes. I took my first genetics course here at Cornell back in 1972. And I can remember clearly at that point saying that I was concerned. I was from psychology and human ecology, that the geneticists were going to actually rush off-- and actually they have, if you look at the DNA sequence what we knew then and what's been accomplished-- and go far, far ahead of our values and morals and what it is we really need to do in the society.
And of course today, we also have issues of assisted suicide, where persons, for example, who have mental health needs. My comment today was the reason I came to come to the microphone is because when you mention figures and down syndrome,
[INTERPOSING VOICES]
In relationship to the figures then down syndrome, I actually am an author, too, with MDS. I'm actually a public administrator by profession.
STEVE HILL GARTNER: Could you please get to the question quickly?
AUDIENCE: What it is, I think we can do some more work in terms of the births and Down Syndrome and the discussions that have occurred in those particular areas in relationship to the genetics.
AUDIENCE: So I think that a lot of these technologies are becoming much more accessible, like Dr. Reilly said, that testing is very cheap now. But some of these IVF PGD, whole genome sequences, are still very accessible. So my question is, do you foresee these technologies becoming an asset to medical treatment that are accessible to people all socioeconomic statuses?
PHIL REILLY: I think it's a great question to ask. And certainly I could cite evidence where people in the know, or people with wealth are more likely to be early adopters of very important technologies. And of course, it depends on whether your question is based on the globe itself, the planet, or the society.
Certainly I worry all the time, what I do for a living is start companies to develop drugs for very rare diseases. These are very expensive drugs. And to think that I might develop a drug for beta thalassemia that I've worked on, that could help people in this country, that's easy. But most of the beta thalassemia is in Southeast Asia and Africa. And I don't have any idea about how to do it.
There is a big difference between therapeutics and testing. Testing, the prices are going to go very low. And we already have a society that has adopted population based screening. We do on the order of 200 million genetic tests a year on babies in the United States. About 4 million babies times 50 tests.
And just for fun and prediction at the end, when the gene for sickle cell anemia, the mutation was first identified, the great scientist, Linus Pauling, thinking about preventing birth defects said, well everyone could wear a little tattoo, saying they have sickle cell trait. And only the people that don't have two traits won't get married. Well, I'm just wondering about the future of genetic testing information and the social media. And it may be Mark Zuckerberg holds the key of the number of live births of children and genetic diseases.
STEVE HILL GARTNER: So, we're virtually out of time. What remains at this point is to thank our panel.
[APPLAUSE]
And I'd also like to thank everyone who worked to make this event possible, especially Trina Garrison. Thank you.
[APPLAUSE]
Enjoy the rest of your charter weekend.
Astonishing advances in DNA sequencing technology and in bioinformatics permit access to vast amounts of DNA information at ever decreasing cost. The ability to analyze and curate this information is rapidly becoming a core element of scientific agriculture, prenatal diagnosis, drug development and precision medicine, forensic science and even studies of the evolution and migration of the human family. In each of these fields questions have been raised about what constraints (if any) should be placed on use of DNA information.
Panelists give an overview of the power of DNA sequencing technology, and discuss the opportunities and issues raised by the application of DNA sequencing and companion technologies to different fields. Part of Cornell's sesquicentennial celebration, April 24-17, 2015
Moderator: Stephen Hilgartner BA '83, PhD '88 (Professor, Science & Technology Studies, Cornell University)
Panelists: Philip Reilly BA '69, M.D., J.D. (Cornell University Emeritus Trustee; Member, Board of Overseers at Weill Cornell Medical College; Venture Partner, Third Rock Ventures); Charles Aquadro (Professor, Molecular Biology & Genetics, Cornell University); Margaret Smith PhD '82 (Professor, Plant Breeding & Genetics, Cornell University); Rory Todhunter PhD '92 (Maurice R and Corinne P Greenberg Professor of Surgery, Cornell University College of Veterinary Medicine); and Adam Boyko (Assistant Professor, Biomedical Sciences, Cornell University).
