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#182 Eric Green on the Complete Human Genome Project

by Kira Dineen
April 29th 2022
00:00:00
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On this week’s episode of DNA Today we’re discussing the past, present, and future of the Human Genome Project and the Telomere to Telomere Consortium with Dr... More

how is it that we find ourselves surrounded by such complexity? Such elements D. N. A. Hi you're listening to DNA today a podcast and radio show where we discover new advances in the world of genetics from genetic technology like CRISPR to rare diseases to new research. We have you covered for a decade. DNA today has brought you the voices of leaders in genetics. I'm curious. I mean I'm a certified genetic counselor and your host the big biology podcast dives deep on some of the most provocative and exciting topics in biology today. In a fun and accessible way in each episode's host art Woods and marti martin biology professors themselves talk to leading scientists and journalists from around the world about the biggest, most cutting edge topics in biology from human consciousness, human origins, new directions and evolutionary theory to the emergence and spread of zoo tonic diseases like covid 19 and much more.

Whether you're a researcher, teacher student are simply curious about science and biology. You'll love the entertaining and deep conversations about biology and the exposures to the research. They bring learn more at big Biology dot org and subscribe rate and review on Spotify, apple podcasts, google podcasts or wherever you get your podcasts. Are you seeking a career with purpose in the healthcare space? I'd recommend checking out worldwide clinical trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passionate worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients With a global team of 3000 experts. You'll be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited, flexible paid time off, limited travel requirements and the ability to work remotely bring your talents and passion and join the team at worldwide dot com. I'm very excited to introduce our guest day Dr eric Green.

He is the director of the national Human genomic Research Institute at the U. S. National Institutes of Health NIH. Throughout his career, Dr Greene has authored and co authored over 375 scientific publications, a few of which we're going to chat about today. So I am really excited to have you on the show. You're you're a big deal in genetics. I'll say thank you, I'm delighted to be here. So I want to start out because how can I not start out by talking about the human genome project. So It's one of the biggest accomplishments in science. I mean we're a little bit biased since we're in genetics but you know, it's really one of the biggest feats I think of the human race that we're able to sequence our own genome and you had a significant start to finish involvement in this. I just want to hear a little bit about the excitement, the competitiveness between your team Celera Genomics. I mean, tell me about that, you know, 13 year experience. Yeah, I really feel very fortunate I was in the right place at the right time at a stage in my career where I could jump in to this sort of once in a lifetime effort.

Um I had just finished graduate school in medical school, I got a combined MD PhD and I was training um in pathology which gave me an opportunity to go into a lab full time. And I gravitated towards genomics lab even though genomics was even a new word back then. And this idea of of developing technologies and applying them to eventually mapping and reading out the human genome seemed like a very um important and what might be very important medically as somebody was thinking long term about medical implications. Um and I was at Washington University which was real mecca for the early days of genomics. And as basically as a postdoctoral fellow, I got to jump in on the front line of the human genome project without probably completely appreciating all the implications associated with joining such an effort because it was so unusual. But you know, it was right there in front of me. And so I and jumped on and you know, you you mentioned words like excitement, competitiveness, you know, in hindsight, you know, it did feel a little bit like a netflix miniseries.

It had many different stages netflix, right? I saw your tweet about that, but you know, some of it was incredibly exciting, some of it was incredibly terrifying. Some of it was incredibly exhausting. Some of it was actually much of it was exhilarating. Um and then of course it had a plot twist where it had this competitive edge when somebody was part of the project jumps into the private sector, tries to compete with the public effort and there had to be a rational settlement to that competitive circumstance which I think there wasn't a good comment actually pushed us along. Um but you know, more than anything associated with that mini series if you will. Um It was successful and it was successful by almost any metric. And it also was successful in the face of a lot of initial critics and by one of the gratifying aspects of it, especially somebody you want to think about early in their career whether this was a good professional idea or not. And some people counseled me, it was not a good idea to get involved in.

It was to see some of those critics turn around and admit, wow you know I originally was against it but I think this is wonderful. And actually some of those critics became some of the biggest fans of genomics in general. I'm seeing what the human genome project was able to do, you know? But of course the other aspect of the human genome project, if we stick with our metaphor is that you know in some ways it demanded a sequel. I mean because the genome project once completed was at the one hand, you know the finish line of an incredible effort but just as important, probably more important for someone like you who practices genetic counselor and you appreciate it was really just the start line For what was to follow and what continues to take place because it really set up a circumstance starting 19 years ago for an expanding view of our understanding of the most fundamental information of our blueprint and how to use that information to eventually improve the medical care of people around the world. Yeah, it really was just the beginning to say, okay now we have a sequence but how do we understand it?

Like how do we use this in medicine? So you know, it's almost like all right now that was just the beginning. You know, I think in terms of like genomics as you talked about it. Like how that wasn't a turn back when you were you know, starting your career and during the human genome project obviously looking at all of the chromosomes, but one of which that I saw you had a few publications about was chromosome seven. Was this one of the first chromosomes completed or like where did this fit in terms of the timeline. Well if there's a funny story of course is that you know, there's many aspects of the genome project we look back on. We almost laugh at how we did it. Um it seems so logical and it actually was logical at the time. And and and of course it was the only thing we could do at the time. But you know, when the genome project began, one of the ways we organized the project initially was chromosome by chromosome different groups grabbed. I mean you have to define the territory otherwise everybody would be crashing into each other and for completely sort of almost trivial reasons. Um I I and and our center at Washington University chose to focus on human chromosome seven.

Um and it was as much because it was just sort of random as anything else. And the other reason there was a lot of attention at the time in chromosome seven because there was a big hunt on for the cystic fibrosis gene. And so that was the chromosome we chose to jump in and start to map. Um and the first part of the genome project was all about mapping and organizing and getting materials together for eventually sequencing. And because we were one of the first funded centers in the human genome project, you know, chromosome seven got out of the gates quickly and therefore got one of the best maps made fairly early on. And then when it came time to start sequencing, when the phase of actually sequencing the human genome began in the human genome project, chromosome seven was uh you know, ready poised to sort of start to have all of its bases read out. And so it ended up being one of the first human chromosomes to also get a complete sequence generated by um the human genome project. And for those that are interested in learning more about cystic fibrosis last May, we did a mini series about cystic fibrosis um and we brought on the author from breath, breath from salt um and just goes through, I don't know if you've kind of come across that book yet.

Um but it just goes through, like, you know, I was even just rewriting the part about, you know, the cystic fibrosis gene like the race to find it and like, you know, jumping through. And do we do it sequentially? Do we keep jumping? Um and just like, you know, so interesting um that that kind of led the way to look at that being one of the first, you know, there's a number that I often like to cite in cystic fibrosis and example of cystic fibrosis was that the gene was discovered actually just before the human genome project began, but we had already made a commitment to sort of go after chromosome seven. And so all that was fine. But the cystic fibrosis as of course, you know, is a rare genetic diseases caused by a mutation in a single gene. And um one of the rationales of course for the human genome project was to provide foundational information that would let us figure out what are the genes That when mutated cause diseases like cystic fibrosis either rare diseases or more common diseases, but in the case of rare diseases?

The day the human genome project began, there were something like 61 rare diseases for which we knew what the mutated gene was, sickle cell anemia would be another example of that. But if you fast forward to today, you know, it's nearly 5000. I mean, so you just think about the progression from 61 to nearly 5000 in in in you know, it's been it's been a number of years obviously. But still that is is a demonstration of why the genome project was going to be so important for advancing our understanding of the molecular basis of human diseases. Yeah, yeah, certainly there's just like so much to learn. And you are also a part of finding the gene for Pendrick syndrome, right? That's also chromosome seven. So was that all related? Yes, it was all related. So, you know, it's actually there's a good story associated with Pendrick syndrome for those listening who aren't familiar. It's another one of these rare genetic diseases um caused by mutations in a single gene. Um the characteristics is that this it's it's the patients with Pendrick syndrome have our have our deaf, they're deaf there.

So it's a genetic form of deafness but they also have thyroid disease, they develop goiter and there is a large mint of their of their thyroids sort of always was interesting from a genetic system and a genetics point of view. Why would you have one gene that when mutated, could caused both deafness and could cause thyroid disease. Um and of course there's some interesting biology to be found there. But first you gotta find the gene. Um as I developed my own research laboratory, the first thing was really developing a team that was going to work on the human genome project. And so that was often running um in when the genome project began as I joined the faculty wash university and then even moved my research laboratory to to where I am now the national human genome Research institute. I developed the second part of my laboratory which involved having trainees um pursue the search for genes for different diseases. But in particular I focused on unfound disease genes on chromosome seven so that I could take the materials that the genome project was generating and take them out for a test ride to see if they would be useful help for accelerating the search for disease genes.

And we would develop collaborations with people who had DNA samples from patients with or without certain diseases like Pendrick syndrome. We were recruited into collaboration with Patrick syndrome and I had a postdoctoral fellow who worked you know how hard but used the materials we were producing as part of the genome project. And boom, we found that gene and that was sort of like that was actually my first real home run in human genetics as opposed to human genomics. I was doing lots of stuff in the genome project but that started uh really uh a series of studies we did both for penetrates instrument for other genetic diseases Who's Jean turned out to reside on chromosome seven. Yeah. Yeah. Very, very interesting. And I think that accounts for what like 10% of deafness it's a high percent, it's a fascinating disease. And it also set up a series of studies that subsequent trainees worked on um that that really started to reveal the underlying biology which turns out to be quite interesting. You know, how is it that you could have deafness and thyroid disease and what are the, you know, it all relates to, you know, you know, particular ways that cells move ions across membranes and if that gets disrupted it really can mess up physiology and multiple different places.

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For more information, you can also access that link via the blog post for this episode, available at D. N. A podcast dot com. Perkinelmer genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening and hereditary cancer testing services support the full continuum of care from preconception and prenatal to neonatal pediatric and adult testing options include sequencing for targeted genes, multiple genes, the whole X. Um our genome and copy number variations using a simple saliva blood sample. Perkinelmer genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families, learn more at perkinelmer genomics dot com. So let's go turn our minds back to like the human genome project as a whole. So After 13 years I think nearly $3 billion Human Genome Project was completed in 2003 which has confused some people with the recent announcement this month in April of 2022 that we've now completed the human genome sequence.

People are like, wait, wasn't that a headline like 19 years ago? So can you clarify for our audience like what you know exactly? That means I'm happy to do that. And you even used a word that I'll slightly correct the history because you use the word draft and and it's understandable that people would be confused, be confused because there are some nuances associated with this. And part of it is because we are so proud of what we produced. We love to announce our progress along the way. But of course that means that we've had multiple announcements but in part because it reflects multiple milestone stages of achievement in human genomics. So the first announcement people heard, which was the famous announcement um that took place now um 21 years ago last year was Commemorating the 20th anniversary of that famous announcement when when bill Clinton stood between Francis Collins and craig venter to announce that both Celera genomics and the human genome project had generated a draft sequence of the human genome, a draft sequence of the human genome.

That would be the equivalent of that first draft of that that any of us made for a big paper we were writing in college because that draft was not well polished. That draft had typos, That draft had grammatical errors. But it basically gave you almost all the information you were going to convey in your term paper that was what each of the competing groups produced Celera genomics and and the the human genome project being performed by the general public. But that was not the end of the human genome project. At the end of what the human genome project was going to do because after that big announcement after the big parties and the celebrations and all right, we did it and all right, the competition is over. The human genome project. Went back to the lab and said we're going to finish that sequence to the best of our abilities. And for two plus years they worked incredibly, incredibly hard. Like any of us worked on our term papers reviewing it over and over and over again. Of course that was days before we had spell checkers, you have to do this by I you didn't have word, you know over and over and over again.

And at the end of the day It produced and this was our wording when the genome project ended was that we we generated a near complete or an essentially complete human genome sequence. Now, what near complete are essentially complete meant was that the technologies at the time did not allow us to read 100% of the bases in the human genome, roughly three billion Letters represent, you know, the human genome we can only get about 92% of them using the technologies that were available at the time. However, for those 92% of the letters that we did read. The accuracy was impeccable like an air rate less than one out of like 100,000 And so it was like the term paper was perfect. There was no typos, everything was grammatically sound. Everything was wonderful. But there were just some concepts that were just completely missing because we only got 92% because the other 8% was not readable and and put and assemble a ble in the computer.

And so there was no prospects Of that sequence significantly advancing back in 2003. The technology simply weren't there to read these and what was remaining by the way. Actually I shouldn't even imply, you know that what was remaining was not the last 8% didn't resemble the 1st 92. The last eight was highly repetitive. Really complicated stretches of DNA that made the laboratory methods fail and confuse the computer beyond all belief when you would feed the sequence into the computer And there was no prospects of that immediately changing. And so rather than just keep being, you know, moving the goalpost as we would joke back then we said, you know what the genome project has essentially, you know, we completed the first generation sequencing the human genome. We've got 92%, we got the stuff that we could do with the tools we have available. Let's declare victory and move on. And so the genome project was declared complete. We had another big celebration. We claimed all sorts of you know incredible things that were to follow.

And the important point was that was again the start of what was going to be needed. Next of course was new technologies and we appreciated it. And the day the genome project ended, our institute put out a major strategic plan published in nature. One of the things we said in it was we need technologies that are going to reduce the cost of DNA sequencing by more than a million fold and improve our ability to sequence DNA. And that was called the $1,000 genome but importantly it immediately put people to work in academic labs and the private sector to develop not only cheaper methods but more powerful methods for sequencing DNA including the ability to sequence D. N. A. Of these highly repetitive regions of the human genome. And this didn't happen overnight. Right. I mean genome project ended 19 years ago. Um and I would say for the first you know 7-10 of those years, maybe even a little more. We're just these new technologies, some that got really cheap, some that got you really long read some that got you you know, different different biochemical processes that allow us to attack the problem from different angles.

Oh and by the way our computational skills got much much better along the way to deal with putting together even more complex sequences from the primary data. And the other thing I think that was really important is the sort of, you know, new scientists came in the field, some from the computer world, from some from the the biological world and some from, you know, other fields. And I think they brought new energy. They brought new ideas and um it was a hard slog. But ultimately finally with a combination of sort of new energy, a new generation of scientists, new computational tools and most important um are equally important probably and new methods, multiple new methods for sequencing DNA. Everything fell into place over the last few years where it was very clear we have the ability to not only readily sequence the 1st 92%, but to get the last 8%, which meant we had the ability to go from one end of every chromosome to the other end of every chromosome and get a complete sequence. And there they got organized a sign called the telomere to telomere consortium and they did it.

And so, you know, a few weeks ago they published a series of papers and a large series of multiple journals and we celebrated yet again. Um but once again it called on all of us, you know myself included to explain. All right. You know why we're finished again. I thought we were finished 19 years ago while we were nearly finished. We were essentially complete, nearly complete. But now we really did it. And um, and you know, of course in many ways and there's always the story of genomics in in one hand and it represents the finish line of a massively important human achievement. It also marks the starting line of a whole lot of things that can now follow now that we have the technical capabilities to actually completely readout human genomes from end to end. Yeah, I would think that the diagnosis of a lot of telomere disorders are going to be easier now that we have this sequence. Well, it's not even telomere disorders actually. Right. I mean it's really as as you know, as a genetic counselor. Um, there are multiple parts of the human genome which I have come to call mischievous regions because they get into trouble.

They're highly repetitive regions that tend to delete out or to do funny rearrangement things that lead to genetic diseases. And when I said earlier in our discussion that there were some frustrating and terrifying and head banging against the wall times during the human genome project. I remember vividly at multiple stages, both during the mapping phase and the sequencing phase working on a region of chromosome seven that is a genetic counselor, you'll be very familiar with, which is the region that gets deleted in Williams syndrome. And Williams syndrome is a well known genetic disorder. And it turns out that is the most mischievous region on chromosome seven and and and it it gets into trouble in people that deletes out regions and causes a genetic disease which has consequences for those people who are affected with the disorder. It's also mischievous because in the laboratory it is it was so hard to develop maps across those regions because everything looked the same and you couldn't sort of organize clones, you couldn't order and then you went to sequence that you couldn't organize sequence.

So there is an example of one of these regions that was not perfectly sequenced and to end by the human genome project but subsequently now has been and so it's it's exactly what you pointed out is that it's not just the feet that we've done this now. It's that some of the regions that just got sequenced in this latest achievement are some incredibly important regions. Medically it also turns out there's some really interesting evolutionary biology going on in some of those regions as well. And now we have before us the fundamental information to better characterize those regions which I think is going to lead to some new medical insights and for certain some new evolutionary insights. Did you know Perkinelmer genomics was one of the first laboratories to offer whole genome sequencing on a clinical basis. Whole genome sequencing can maximize clinical diagnostic yield for patients with turnaround time of four weeks for the pro band sample. Perkin Elmer's whole genome sequencing test is designed to provide access to additional valuable information compared to an ex um Perkinelmer also offers prenatal whole genome sequencing as well as ultra rapid whole genome sequencing for critically ill newborns using dried blood spots.

The ultra rapid genome has turned around time of five days and includes mido chromosomal C. And D. Analysis, str TnR screening and biochemical analysis. Also listen back to episode 1 76 with Dr Madhuri Hegde where we explore the power of whole genome sequencing which also happens to be one of my favorite episodes DNA today and stay tuned for a couple more episodes of perkinelmer. Soon discover all the perkinelmer genomics has to offer at perkinelmer genomics dot com. Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics and laboratory science. Then you should check out the genetic assistant online training program at johns Hopkins University School of Medicine. By taking part in the program. You'll be joining both national and international learners. The same passion for genetics interact directly with your johns Hopkins instructors and fellow learners throughout the program. Applications are closing for the summer cohort and there are spots available for fall 2022. For more information. Use the link in our show notes. If you're listening to this through a podcast app?

You can also access the link at D. N. A podcast dot com. Are you developing a new therapeutic need a partner to help? No matter where you are in your development program. Worldwide clinical trials is available to guide you with more than 35 years of global experience founded on medical science worldwide will execute your trial with confidence. Worldwide clinical trials has an extraordinary depth of medical expertise in key therapeutic areas including cardiovascular metabolic neuroscience, oncology and rare diseases, unique logistical challenges and lack of Presidents can make rare disease trials intimidating. Worldwide offers customized insight, deep expertise and novel solutions to get the most out of your efforts. Worldwide uses their extensive network of global resources to meet or exceed patient recruitment and retention goals. This is achieved by combining the benefits of global scale with personal service and senior management. Accessibility. Stay tuned for a full episode interview with worldwide here on DNA today, learn more about how worldwide can be your clinical trial partner at worldwide dot com. And I think another aspect of it is looking at the diversity to of just you know, what genomes have we sequenced.

Um can you speak a little bit about with the original human genome project? Um you know, what were their ethnicities of the participants that were being sequenced. Um yeah, I mean let's just say it was chaotic and it really we had so many issues that we were dealing with that. Um I don't think there was necessarily a thoughtful deliberate process associated with it. It was, it really turns out it wasn't out of any disrespect. It turns out that all the focus ended up being on the people that we're really good at making re competent DNA clones. That could be used for mapping the human genome. Um In a fashion that allowed us to basically build maps of the human genome. Um And so sometimes and and then but then different groups started to use different libraries which meant they came from different people and in some cases they didn't even necessarily know the people they came from.

And so you know in hindsight we should have done it very differently. But at the time it just it really just wasn't in our conscious because there was so much R. And D. Work being done on these clones that we never even knew which clones were actually going to be used for the actual project at the time. The libraries were being made. Now I tell you all that because one of the questions, the first thing is the human genome project produced to sequence the human genome. It was just a representation of the human genome and it doesn't reflect any one person. In fact it was a patchwork. It was a different person practically every you know every 100,000 bases of that initial sequence by the human genome project. It switched to maybe a being from a different library which meant it came from a different person At the end of the day. Most of the sequence like a little over 50% came from one individual. And it turns out that individual was a random blood donor from Buffalo New York. And the reason it was buffalo new york is the guy involved who had the best hands, the best lab for making the best clones for making the best maps of the human genome, worked in a laboratory in buffalo new york.

So he went to the local blood bank to get a random donor. So again it turns out that you know, again and in hindsight and even now it doesn't even really matter right now what the most recent sequence that was generated because now it all starts. And and in fact um you know, our institute is funding a major program to develop a series of what we call reference sequences. Very high quality sequences from hundreds of people who have been specifically selected to help represent the diversity of the human species. And that this concept. And the reason you want to do that is you want to capture as much diversity in other words as as much spelling differences among people's genomes and you especially want to capture that across different people from different ancestral backgrounds. And then when what you're going to want to do then in thinking about the human genome is don't think about it as as a human genome or certainly not the human genome. You want to think of it as a pan genome as a as a scaffold of a sequence with an indication of where people tend to differ and where people differ from different ancestral backgrounds.

And so this is this idea of representing it as a pan genome which you know is sort of an amalgamation that as best as it can do captures the world's diversity and in terms of differences amongst our D. N. A. And how is the all of us project? Also helping with this because the first is that the first set of genomes were recently released with all of this project. Is that right? So yeah so the all of US research program let me make an important point. All of US research program is enrolling you know upwards of a million are probably more individuals who will be studied long term and also have a lot of genomic studies done on them. But it's all for people in the United States. Its goal and we'll get to it in a second. It's goal is to capture as much diversity as we can capture in the United States. The pan genome effort or the the human reference program of my institute is trying to capture as much diversity worldwide, not just in the United States. And of course all of us are interconnected and the U. S. Is a big melting pot and all that but there's there's obviously much more diversity to be captured worldwide than even what we can capture the United States.

So both efforts our diversity. But but but for the pan genome we were we and others around the world are working on sort of a global view of pan genome all of us. Research program is very exciting program being conducted by a dedicated group um here at the NIH Um is going full full guns. It's wonderful. And and it is very exciting. The recent announcement of nearly 100,000 of their participants have now had their genomes sequenced. Um and that data is now is becoming available for researchers to study and what's fascinating and important. And it immediately I mean just imagine, I mean Just imagine 100,000 human genome sequences we shouldn't care anymore about whose genome was sequenced in the Human Genome Project point. Yes, We now got 100,000 of these things. And I won't imagine telling yourself back in the early nineties like 100,000 genomes of americans like that. You Know, I mean before I turn 65 I would have said no, you know, so any case And what's exciting about it is that um over 50% of all the participants in all of us so far over 50% of them are diverse based on racial or ethnicity definitions of diversity.

And even more interesting is over 80% of our roughly 80% of them are underrepresented in biomedical research By using a variety of metrics, including you know socioeconomic thinking about rural urban you know, lots of different ways of measuring representation and biomedicine. So the point is now we have 100,000 and we have they're incredibly diverse by almost any metric. It just goes to show that um you know we are we are doing what we need to be doing now and we're doing it at scale in terms of capturing capturing diversity in the United States and worldwide. Yeah, I was really impressed to see all those numbers. Um it's just so cool. Even just like thinking back when I heard the announcement of the all of us research program and like okay here we are today like we actually have results released right. You know and it wasn't that many years ago you know that that you know one of the one of many projects launched after the human genome project which was sort of the first step towards understanding human diversity was something called the 1000 genomes which was let's sequence the 1000 genomes and learn about you know genomic variation.

You know and we celebrated that because we love to celebrate. We celebrated that when we completed it and now think about it now as a down payment. Just a down payment all of us has delivered nearly 100,000. I mean that's 100 fold more than the 1000 genomes project which we thought was way cool. Now they did 100,000 and of course there's more to come because they're going to do a million and more and they're going to speak once at all. Yeah. Just keep keep breaking those records right? Like that's what we do in genetics. That's right. So as we end the show, I have so many questions but you know, to wrap up Um I'd love to hear your predictions for, you know, let's say 2030. How do you think the information we're gathering from all these projects we've talked about today? How do you think this is going to impact genomics and people's lives? Right. Like that's the reason we're doing all of this. Is there any specific area in genomics that you see really blowing up and expanding? Um You know, certainly like as you were starting the human genome project and everything, I'm like okay, genomics is gonna become really big. Um but anything within genomics now or within genetics that you're like this is an area to like really focus on that.

That's going to be a huge like buzzword or conversation. There are probably many areas and if you asked lots of people who are doing genomics, they would certainly, you know, point to seismic changes that either have occurred already are gonna are gonna are gonna occur. You know, I feel like what I'm the most informed about um is of course the applications of genomics to medicine, it's what draw me into genomics and especially as director of N. H. E. R. I. Now for 12 years it's the signature area that I have pushed the most. And um and I will continue to push the most. I mean the institute truly is pushing hard to change the practice of medicine um by infusing the use of genomic information as part of routine clinical care. And you know it's hard to make predictions because I you know, I'm I'm highly optimistic. I've been shocked by where we've come in 19 years since the genome project. So I should be ever more optimistic that by 2030.

But you know I couldn't have dreamed when I started the Human Genome Project As a training in pathology with an eye towards diagnostic medicine that we would find ourselves in 2022 where it is becoming routine to take a child in a neonatal intensive care unit who is clearly quite ill and likely to not survive many many more days Sequence their genome in less than 24 hours. Get information in some cases saved that child's life and that is not hyperbole. That's really happening. And more and more neonatal intensive care units are adopting that and of course the stories go on and on with rare diseases and and doing genome sequencing of patients with undiagnosed conditions and I just think that and then of course if you see what's going on in cancer. It's just getting completely changing the practice of oncology and and then there's things on the horizon that we simply don't know yet what how we're going to use information of genomics to teach us about more complicated genetic disorders that have many genes and many environmental influences and the compilation of using information about genomic variation.

But I've just got to believe that we're going to continue to see this drumbeat of success um in in genomics and uh and as it's applied to medicine. And so um and and and and also thinking about pre natal non invasive prenatal testing which is just skyrocketed. And so I you know I'm sure there'll be many areas where genomics is going to change our life. Um I think we saw some of those emerged during the pandemic um uh you know both at the diagnostic level or even the way we monitor our our environment whether it's our our wastewater looking for covid sequences or you know increasingly monitoring the environment for uh you know learning about the the life forms that exist in the environment that we can't seem to find. But we can find their D. N. A. Um tracking the health and well being of our planet whether it's the oceans or other parts of the biodome through large scale sequencing. So you know that's out of the medical realm. But I could see that as well. But you know what I am and the rest of my institute is laser focused on is what can we do to advance the use of genomic information to improve the care of patients because once you start to see some of these early successes in genomic medicine, you know, it becomes intoxicating that you say, oh my gosh, this is not just theoretical, This really can change medicine and then you just want to push even harder to see genomics reach its full potential.

Yeah. Yeah. Well thank you so much Dr Green for coming on the show. You just have so much insight and perspective I think in terms of genomics and where we are with looking at okay, what are we using this information for and what the future looks like. So thank you so much for sharing in the celebration to of just you know, having having that first draft complete now and everything. Well it's been fun talking to you, we should do this more often, maybe every year or something right, answers and genomics especially from your perspective as well as somebody on the front line of genetic counseling, which is an incredibly exciting field and career. I and you get to see a lot of the stuff up close and are part of seeing this be implemented in the real world. Yeah, no definitely. I would love to have you back on and even maybe end of the year because I've seen that you've done some end of the year posts. Um so maybe something just reviewing like the year and everything, but I'll get with your team, we'll figure it out. But thank you so much. Dr Green.

Oh and you're gonna want to tune in next week. We are continuing this conversation but switching up the guests, we're going to have the co founders of the telomere to telomere consortium on the podcast so that we can dive more into this breakthrough in genetics. So stay tuned till next week. For more information about today's episode visit DNA podcast dot com, where you can also stream all episodes of the show. We encourage your questions, comments, guest pitches and ideas. Send them all into info at D. N. A podcast dot com. Search DNA today on twitter, instagram Youtube facebook so you can connect with us there and a favor. Please rate and review the podcast on Apple Spotify or wherever you listen. This truly helps us climb the charts and allow more genetic nerds like yourself to find the show. DNA today is hosted and produced by myself here, Deneen, our social media lead is korean Merlino. Our video lead is Amanda Andrea Lee. Thanks for listening and join us next time to discover new advances in the world of genetics.

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#182 Eric Green on the Complete Human Genome Project
#182 Eric Green on the Complete Human Genome Project
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