Inside the Dramatic Race to Decode the Human Genome
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Major funding for The Pulse is provided by a leadership gift from the Sutherland family. The Sutherlands support WHYY and its commitment to the production of programs that improve our quality of life. This is The Pulse, stories about the people and places at the heart of health and science. I'm Maiken Scott. ♪

25 years ago, on June 26, 2000, President Bill Clinton greeted dignitaries and scientists from all over the world in the East Room of the White House to make a major announcement. We are here to celebrate the completion of the first survey

of the entire human genome. A detailed map of humanity's genetic blueprint: over 20,000 genes made up of over 3 billion base pairs, our DNA, the fundamental building blocks that carry the code for how our bodies develop and function. Without a doubt, this is the most important, most wondrous map ever produced by humankind.

The moment we are here to witness was brought about through brilliant and painstaking work of scientists all over the world, including many men and women here today. Painstaking was an understatement. The man standing next to President Clinton on this momentous day could attest to that. Francis Collins, the scientist in charge of the Human Genome Project.

You have to recognize that the genome is kind of the center of the center of everything you want to know about biology and medicine. Francis had been a supporter of the project from the start. When he first heard about it in the 1980s, he was a researcher at the University of Michigan looking for genetic causes of illnesses.

He had spent five grueling years hunting down the gene responsible for cystic fibrosis, which he discovered in 1989. But to imagine doing this again for the hundreds or thousands of diseases that also would benefit from that kind of discovery just seemed completely unimaginable, unless...

you had a basic foundation of understanding of the human genome, the three billion letters of the human DNA code. So when the Human Genome Project was officially launched, Francis was eager to jump on board. I was a big fan. I wanted to see that happen. I applied for a genome center at the University of Michigan, received that award and thought, OK, I can be part of this. But of course, that's only the beginning of the story.

I didn't expect to be asked to lead the whole thing. He was tapped to fill the very big shoes of James Watson, the Nobel Prize-winning biologist who had first proposed the double helix structure of DNA along with Francis Crick. Watson had resigned two years into the project. Francis Collins knew that leading the Human Genome Project would be a major challenge.

This was an international collaboration, which meant managing thousands of scientists around the world, not just their work, but their egos, not to mention billions of dollars in funding. And it was a big commitment. The project was scheduled to take 15 years, ending in 2005 with the unveiling of the completed human genome.

He wasn't sure if he was up for it. Went and did the interview and toured the NIH and then I said, "No, this is not my dream of what my life is going to be. I'm having a great time in Ann Arbor doing research." But then I had to think about it for a few months. How do you walk away from what, if it happens to succeed, is potentially the most significant research ever done in life sciences? And you're just going to say it's not a convenient time?

He changed his mind and started in April of 1993. And it was a wild ride from that day forward. A wild ride, to say the least, filled with unexpected twists and turns that made it necessary to step on the gas pedal in a big way. On this episode, the race to decode the human genome and the project's lasting legacy. ♪

When the Human Genome Project was launched, the initial goal was to be finished in 2005. So how did we get to this draft announcement in the year 2000, five years earlier? In his remarks, Bill Clinton compared the DNA sequencing to the maps created by the Lewis and Clark expedition into the American West. It was a map that defined the contours and forever expanded the frontiers of

of our continent and our imagination. But maybe a comparison to the space race would have been more accurate. Because what had happened behind the scenes leading up to this day was a nerve-wracking, cutthroat competition to get to the finish line. A competition where every minute counted and the future of scientific inquiry was at stake. Liz Tang picks up the story from here.

When Lauren Linton agreed to sign on to the Human Genome Project in October of 1997, she had no idea what she was getting herself into. So I came in and did not know that by February of that pilot year until four months later, we were due to be cut because we were not doing very well. Lauren had been recruited to lead the MIT Whitehead Institute Center, one of the three federal centers involved in the Human Genome Project.

It was a major job, but Lauren was the right person to do it. She's a scientist, but unlike a lot of the project's other leaders, she wasn't an academic. She had cut her teeth in the competitive world of industry, having launched and led her own successful biotech company. So I'd managed a lot of big projects. I'd managed them in industry. I'd managed budgets. All skills that, as she soon discovered, would be crucial to saving the Whitehead Center.

It was one of the biggest gene sequencing centers in the country. But by the fall of 97, they were on the chopping block.

Costs were too high and output too low. So right away, Lauren pulled together a game plan. So I quickly got in here and developed cost modeling, process modeling, took over a lot of the program management, did a lot of biological experiments. I had an R&D team to work on new methods for us that were automatable. By February, we had thoroughly improved those things and saved ourselves.

It should have been smooth sailing from there. But then, just a few months later, in May of 1998, something happened that shocked everyone involved. Something that upended all their plans. Something that could pose an existential threat to the Human Genome Project. And that something was Craig Venter.

Craig was once called by CNN, biology's bad boy. And when I talked with him on Zoom, he kind of looked the part. Think Captain Picard with a neatly trimmed silver beard and steely blue eyes. And you can tell right away that he is not the type to mince words. The scientific community is not necessarily the most forward-thinking community. It's very conservative, conservative.

and very parochial. Craig sees himself as more of an outsider, a maverick. But back in the 1990s, he was very much a part of the official scientific community. He'd spent almost a decade working at the National Institutes of Health, or NIH, where he made a name for himself by developing a faster technique for gene discovery. He left the NIH in 1992 to found the nonprofit Institute for Genomic Research,

a pioneer in genomics that sequenced the first complete genome of a free-living organism, a bacterium called Haemophilus influenzae. Craig was ambitious and brash, and of course wanted to be involved in the Human Genome Project.

His lab initially managed to snag a piece of the puzzle, sequencing chromosome 16. So he was part of the project's very large team. Until one day in May of 1998, according to Loren, during a meeting with some of the project's lead scientists, he made a shocking announcement. Here's Loren. Craig came late, walked in, didn't even sit down, and announced that he'd be starting a company.

And he's leaving the federal project and he would be doing the human genome on his own and that we could go off and do the mouse, which is very upsetting to everybody at the table. Craig's company, called Solera, had received $300 million in funding from a company that manufactured DNA sequencers, which meant they had plenty of money to invest in beating the human genome project. The project's leaders were shell-shocked.

Not only at the perceived betrayal, but at the realization that the Human Genome Project, this international collaboration of scientists from around the world working to make history, working to decode the blueprint of human life, could very well become nothing more than a footnote in the history of genomics.

Even worse, they worried that the move could lead Congress to lose interest and defund the project. So most people working on the project were pretty upset. "And when Craig did this, they villainized him. How could he do this? He was on the federal offer and now he's the enemy."

I was actually not surprised he did it. To be honest with you, the project was ripe for a takeover. Over the years, Craig had grown frustrated with the Human Genome Project. It was too slow, too cumbersome, too bureaucratic.

But he had a solution, an approach to gene sequencing that he said was faster and more efficient. It was called shotgun sequencing. And from the beginning, Craig had been pushing hard to adopt it. It was clear to me in 1995 that this was going to be the ideal method for sequencing the human genome. And Collins refused to fund it.

They were absolutely certain it wouldn't work. It was never part of the discussion because it was almost like a government make work project. So here it helps to understand a bit about how sequencing works. The human genome is enormous. It includes roughly three billion base pairs, which are the fundamental building blocks of DNA. Each pair makes up one of the rungs of the ladder in the double helix.

represented by the letters A, T, C, and G. And each one of those billions of letters needed to be read, their order decoded in order to sequence the genome. But it wasn't possible to sequence the whole genome all at once. It was too big. So instead, the Human Genome Project had decided they would break it into manageable chunks and use a process called mapping to create a framework for which chunk belonged where.

Francis Collins, the head of the Human Genome Project, used an analogy to explain it. Imagine that you're trying to put together the words of war and peace. Tolstoy's epic tale that spans well over a thousand pages. And you basically take the book and you put it through a shredder and you mix it all up.

And then you try by looking at those letters to figure out what went next to what. The mapping approach was like shredding a page at a time and then reassembling it, which, Francis says, was easier and less prone to mistakes. Because you don't have so many options to get it wrong. Basically, the scaffold is like the one page at a time. You've already assembled it.

stretches of DNA, in this case in the order of 150,000 letters along, where you know those are all part of one piece of human DNA. And so if you try to reassemble that from shorter segments, you're pretty likely to get it right, because there's only a limited number of ways you can put it together.

That's what the public project was doing. So before any real sequencing could happen, they needed to build that scaffold, a slow and deliberate process. The project had plenty of mappers. Too many, if you ask Craig.

The genome community was dominated totally by genetic mappers who weren't even interested in sequencing. They were just interested in trying to find genetic diseases by mapping. Craig's approach, shotgun sequencing, skipped the mapping part. To use Francis's war and peace analogy, it was like putting the entire novel through the shredder and then putting it back together all at once instead of moving a page at a time.

Craig felt like he had already shown that this could work. But Francis, among others, was not convinced. People who knew a lot about the mathematics of genome assembly were deeply skeptical that that approach could result in the kind of quality assembly of the human genome that we were promising to deliver. So it wasn't that his idea was rejected because it was coming from him. It was just an idea that the experts...

had already reached a very strong conclusion that this is not going to give the answer we need, at least not with the technology we have then. So Craig broke off to do his own thing.

And, always a forward thinker, he had a solution for the logistical challenges: designing an algorithm and executing it using a high-powered computer, one of the most powerful in the world, custom made for his team, to assemble the pieces correctly. His goal was beyond ambitious: to finish the whole process as much as five years before the projected completion of the Human Genome Project.

The reaction among the project's leaders was anger and panic. Here's Francis Collins. Yeah, human nature, you're not going to be too excited about that. But I think it was really more about the notion of what's the ultimate outcome going to be? What's going to matter? Are we going to end up with a sequence that's highly accurate, the quality is really good, and we worried about the Solera approach not achieving that? And is it going to be accessible to everybody?

Frances mentions accessibility because not only was Celera going to run away with this big discovery and get the credit that went with it, there was something even bigger at stake. Namely, what Craig was planning to do with the completed genome. They'd heard that he wanted to patent it, which would mean that anyone doing research on, say, the gene that causes muscular dystrophy might have to pay Celera for the privilege.

Here's Lauren Linton. So if we did not want that genome patented and put into the patent office so that everybody doing research from that point on on genes would have to take a license to it, we had to finish it in a year. We're listening to the story of the dramatic race to decode the human genome from Pulse reporter Liz Tong. Coming up, the competition heats up and another surprise twist adds even more pressure to get to the finish line.

Mic drop at this point. Everyone doing the project, it was like, Francis, you did what? That's still to come on The Pulse. This is The Pulse. I'm Maiken Scott. We're talking about the race to decode the human genome.

When President Bill Clinton announced the first draft of the human genome 25 years ago, he was flanked by two scientists, Craig Venter and Francis Collins. Francis Collins was the director of the federally funded Human Genome Project. Craig Venter, the head of a biotech company called Celera. It seemed like a friendly affair, a public-private cooperation, as Clinton put it.

But what had led up to this day was not a collaboration, but rather a fierce competition that put intense pressure on racing to the finish line with a completed genome. In the late 1990s, Craig Venter had started his own attempt to decode the human genome after becoming frustrated with the slow pace of the public project.

Then he announced that he would finish five years ahead of the original deadline for the project. And there was talk that Craig planned to patent his discovery, which would impact all future research. Reporter Liz Tang has been talking to the major figures involved in this race. Let's hear the second part of her story. So Craig Venter and Solera had really thrown a wrench into the plans of the Human Genome Project.

and members of the public project were feeling the pressure to speed up their timeline. Luckily, Lauren Linton, the director of the Whitehead Center, one of three federal centers involved in the Human Genome Project, had a plan. As part of her previous efforts to revamp the center, she had come up with a way to scale up their sequencing. Within a few months, they were moving 20 times faster than before.

In the meantime, Lauren, who's something of a maverick herself, had been thinking about how the public project could compete with Solera. And so at another meeting several months later, she presented their progress and then made a radical suggestion. So I said, there's only one option here. We have to go to shotgun sequencing as well, which, you know, was an uproar. Shotguns.

Shotgun sequencing is the approach Craig Venter was using at Solera. If we go back to the War and Peace analogy, if you put the whole book through a shredder and try to put it back together, Craig was trying to sort out all the letters at once, while the Public Project was moving one page at a time, mapping out a basic structure of what belonged where.

And Lauren noticed that the mapping step was really slowing them down. If you know anything about building like an assembly line, you're looking for your impedances. Where are your bottlenecks? Because you need to remove them.

if you want the whole thing to be at a certain throughput. Well, mapping was the major impedance for the federal project. Now that the Whitehead Center had ramped up its sequencing, they were moving faster than the mappers and had run out of pieces to sequence. At this rate, Lauren says, there was no way they could finish in a year.

To have a snowball's chance in hell of beating Solera, they would need to adopt the same strategy as Solera. There was just one problem: assembly. Taking those millions of letters from War and Peace and putting them all back together. Computing power was one thing, but they would also need a program, an algorithm, to figure everything out. Despite that, under pressure from Solera, Francis Collins said yes.

In December 1999, across the country at the University of California, Santa Cruz, a computer scientist named David Housler received a call that would change his life and the history of genomics. That conversation, yes, I remember that vividly. It was one of the main leaders of the Human Genome Project.

And he wanted to know if David would be interested in signing on to help the project find genes once the genome was assembled. Meaning to comb through these endless strings of base pairs, the A's, C's, T's, and G's that make up our DNA, and figure out where specific genes are and what their function is. This is something David already had experience with. And in fact, Solera had already tried to recruit David.

An invitation that, as exciting as it was, he ended up turning down. I really didn't believe that it was appropriate to have the genome privatized, essentially, so that you would be charging a subscription to read the genetic heritage of the human species. That just sounded like a crass idea.

David was thrilled to join the public project. He knew he would need help, so he recruited a couple PhD students, including one named Jim Kent, who David knew as a programming genius. He, Jim, quite the character. You could see pictures of him.

He looks like something out of Middle Earth. I'm not sure which Middle Earth characters David had in mind, but if I had to guess, I'd say Gandalf. Or possibly a dwarf, on account of Jim's big beard and crown of curly, now silver hair. I talked with him over Zoom. And let me just check. Ooh, too loud.

And his answers to my questions, much like his hair and beard, were sprawling and unruly. These days, Jim is retired. But in 1999, he was a 39-year-old PhD student making a career change. He'd spent the last few years working in the nascent software industry. But he'd gotten bored with that and decided to go back to school to study biology. I didn't really have a super...

clear idea career-wise what I was going to do. But he did enjoy combining coding with biology. And so when David invited him to join the Human Genome Project, Jim said yes. So long as he could take two months off to finish his thesis.

Over the Christmas holiday, David and Jim formulated a plan and got ready to begin gene finding. There was just one problem: in order to do their job, to identify specific genes and what they did, the genome had to already be assembled. And it seemed like the project wasn't even close to figuring out how they were going to do that.

Here's David. There was a lot of work to do, and I was being asked to join the project, but it wasn't really ready for the gene-finding step. And I saw a train wreck coming. David actually went to visit one of the centers where a postdoc was working on the problem. She was clearly brilliant, David said.

But just one postdoc, which is, it seemed like a dangerous situation to me. So we actually started working on the assembly problem quietly. It wasn't that they weren't allowed to work on the assembly problem. It was more a matter of diplomacy. They didn't want to step on anyone's toes. Plus, if they did it in secret, there wouldn't be anyone looking over their shoulders telling them how to approach the problem.

As the spring of 1999 rolled around, the competition started heating up. The media had latched onto the story and was reporting feverishly on the race between the Human Genome Project and Celera.

Francis Collins says the coverage was a double-edged sword. On the one hand, it did cause people working on this to feel like, oh my gosh, we're in the hot lights of public scrutiny. On the other hand, it was great to see the public was actually interested in a project which had largely been ignored until then. It seemed like only when there was a race and when there was a personality issue involved

and that Craig Venter has a yacht and Francis Collins has a motorcycle, that it becomes something that the press wants to cover. Craig Venter at Celera, however, remembers the coverage getting pretty ugly. Watson called me Hitler. Francis Collins said we were doing the Mad Magazine version of the human genome version.

They just made constant public attacks. Whatever the case, the media coverage meant that public pressure was mounting and both sides were starting to feel it.

To make things even more stressful for the public project, everyone could see how fast they were moving. That's because, in keeping with their philosophy of scientific openness and research for the public good, they were uploading all their DNA sequence information to the Internet every 24 hours. Here's Francis. We felt this was subversive.

such a valuable contribution to understanding human biology and human medicine that it shouldn't sit anywhere unused for more than a day. But it also meant that Solero was able to keep close tabs on how fast the public project was moving, while the public project had no idea how fast Solero was moving. Under pressure, the project's timeline to completion began to accelerate.

Here's David Hausler, the gene-finding computer guy. The projections for what we needed, how much DNA we had to produce and what we needed to do with it to assemble it into chromosomes and then analyze those chromosomes, those projections were changing every week.

as the race just got hotter and hotter. The three federal centers sequencing DNA had ramped up production spectacularly, but it was clear that assembly was still lagging. And then, as David describes it, in the spring of 2000, Francis Collins delivered some news that changed everything. Out of the blue, on May 9th, we got on the call with Francis Collins, and he said, well, I have an announcement, um,

I made a deal with Craig Venter. Frances, the big boss of the Human Genome Project, had agreed to a truce with their archenemy, Solera, to end all the public acrimony and mudslinging and to essentially declare a tie ahead of time. Instead of seeing who finished first, Frances told them, the two sides would make a joint announcement at the White House on June 26th, where they would unveil their completed drafts of the genome.

The goal was to end the increasingly ugly public battle between the public project and Solera and hopefully bring a bit of dignity back to this historic achievement. A bit of scientific diplomacy, if you will, that would mean both sides could win.

Of course, it also meant that this project, that they were originally slated to finish in five years, now had to be completed in a little over a month. The response, according to David, was shocked silence. Mic drop at this point. Everyone doing the project, it was like, Francis, you did what? What?

We don't have a genome. We don't have an assembly. We have a huge pile of DNA that is unassembled and no clear plan to assemble it, let alone analyze it. To David and other members of the project, the decision felt sudden. But it had actually been in the works for weeks, starting with a historic meeting. Francis and Craig have different memories of what prompted the meeting. Here's a look.

Here's Craig. It came about because I knew President Clinton and he, through a mutual friend, indicated that he wanted to stop all this rancor between NIH and Solera with all the

name-calling. Francis, on the other hand, says it was initially his idea, enacted through a neutral third party who was friendly with both sides, a director at the Department of Energy named Ari Petrinos. And I said, Ari, I think we've got to figure out a way to have this

acrimony come to an end and turn this into a positive story. So Ari arranged a meeting between Francis and Craig at his house. And ordered some pizza and we went down to Ari's basement and had initially a pretty careful and somewhat uncomfortable conversation about whether there might be a solution here that would bring credit to the project and not just feature the tensions. It was awkward, of course,

Francis says they talked about where each side was, how close to completion, and maybe about each of their goals for the finished genome. Other than that, neither one remembers many details about that night, including what kind of pizza they had. Oh, it was something with tomato sauce. What were the extra fillings on? Was it pepperoni or was it...

You know, ham and pineapple? I don't know. But they did both tell me that the pizza party was just the start of an ongoing conversation that eventually resulted in the decision to do a joint unveiling. The whole point was to ease tensions. Although within each of their own projects, both Craig and Francis faced backlash. Here's Craig. My decision was very unpopular with my whole team.

And my closest advisors, some very senior scientists in the community, called me and tried to talk me out of it. They wanted me to humiliate Francis Collins and the NIH for the way they were acting. But as we can see right now, with all the cuts being made to science,

The scientific community relies totally on the public trust for funding the breakthroughs to change medicine. And even though there was definitely a part of me that would have loved to publicly announce, defeat, and humiliate them,

I didn't think that was the best thing for public science. Francis says members of the Human Genome Project felt a similar way. There was certainly some sense on the team that anything other than complete victory was not what they were looking for. And here is their project leader who's basically agreed to a friendly truce. And there was at first some response from some parts of the public project

That was surprised and perhaps even a little offended that I had done this unilaterally without consultation. And, of course, there was the fear that they wouldn't be able to finish in time. It was an absolutely insane deadline. They now had roughly six weeks to finish decoding and assembling the human genome.

David Housler, who remember was recruited as a gene finder, not an assembler, was in despair. He had been working on a computer program to assemble the pieces, but he wasn't confident that it would work.

He updated his coding expert, Ph.D. student Jim Kent, in an email exchange about what was going on. Jim asked how David's assembly program was going. Was the code completely stable? Was David confident he could get it to work and at scale? And I said, no. And he said, well, you know, I have the makings of a program and it's starting to work and

I'm gonna go ahead and try to do it faster and better my way. And I said, go ahead. I literally said, Godspeed.

This was it. After 10 years of work by thousands of scientists, billions of dollars in funding, and with the future of genomics research at stake, it had all come down to one eccentric PhD student writing code in his garage. It was a lot of pressure. I could see that.

There was a lot of research that was depending on this. Luckily, behind the scenes, Jim had been thinking through the problem and had a concept for how to do it. And so, over the next four weeks, he set to writing the code for his assembly program, a project that he estimates took at least 12 hours of work per day. Here's David. I would go over and visit him.

He had a cycle of code, nap, code, nap, code, nap. He didn't have a regular sleep cycle and he would ice his wrists whenever he was not coding because the carpal tunnel would have gotten him otherwise.

I mean, it's true. I would have to ice it. It's not, it's an awkward thing because with a repetitive stress injury, you don't want to overdo it. It wasn't just Jim working in isolation. Part of the reason he was keeping such odd hours is because he needed to correspond with the sequencing centers, not just in the U.S., but in England, Germany and Japan.

So once I wrote the human genome browser and could look at the data visually, I was pretty sure that it was okay. But he needed to test it. So he chose chromosome 18, one of the messier, more complicated chromosomes. I knew if the browser would work there and if the assembly worked there, I would have been confident of it everywhere. So Jim ran the program, holding his breath.

And suddenly, there it was: chromosome 18 in all its completed glory. He immediately contacted Francis Collins to let him know. From there, the project was engaged in a frantic flurry of last-minute work until they finally finished. On June 22nd, four days before the joint announcement with Solera at the White House. And three days before Solera finished their draft.

The White House ceremony presented it as a tie. But supporters of the public project have insisted that they were the real winners. Craig Venter has his own take. No, that's total fiction. I don't even know where they get that from.

You know, they were struggling. They didn't even know how they were going to put things together. I mean, Jim Kent didn't even do his work until after the White House announcement. Jim Kent, by the way, says he did complete most of the work before the announcement. And here's what Francis Collins has to say. I have not heard this particular claim before.

If that's the case, it would have been hard to know what Solera's achievement was because they never made the data available. So if he has that evidence, it's never been seen. In the end, though, the question of who won, in fact, the whole race itself, was kind of academic. In reality, neither side was totally finished.

These were drafts of the genome. Most of it was done, but not all of it. There were stretches of DNA that were, as Francis says, so gnarly, so repetitive and stuttering that they couldn't be completed until years later when technology had gotten better.

What Francis and Craig do agree on is the impact of decoding the human genome. It changed medicine. It changed science. It changed the world. Here's Craig. Now, what took me 10 years to do in the lab, any new student can do in about 30 seconds on the computer. So I call it basically the silent revolution.

because it was so revolutionary, immediately changed everything, how everything was done, how drug discovery was done, how basic science was done. It elevated the platform, so we started a mile higher than we were before. What that silent revolution has enabled, Francis says, is staggering advances in cancer research, in the treatment of genetic diseases,

in precision medicine, and so much more. So it's transformative. We crossed a bridge into completely new territory, and we're never going to have to go back again to that. We're the first species that we know of in the universe that's read its own instruction book, and that gives us power and responsibility about what to do about it. And none of that would have happened if we didn't have that initial really hard slog.

with all those people willing to work on it, to read out those three billion letters and to make it all accessible for everybody with a good idea to begin to understand it. That story was reported by Liz Tong. Coming up, millions of people have spit into test tubes to have their own DNA analyzed, to learn more about their ancestry. And then they saw that data sold to other players,

Which begs the question, how much is your genetic data worth? And should we try to get in on this deal? Your DNA, we say, is the blueprint to who you are. In your lifetime, you will have one highly identifiable piece of information, and that's your DNA, right? You will have multiple phone numbers, multiple home addresses, but you will only have one genome. That's next on The Pulse. The Pulse

The Commonwealth Fund supports The Pulse and reporting on health equity. The Commonwealth Fund, affordable quality health care for everyone. This is The Pulse. I'm Mike and Scott. We're talking about the Human Genome Project.

As scientists raced to complete the first draft of the genome map, there was talk that Craig Venter's company, Celera, planned to patent the human genome, which would have meant that scientists would have to pay for access to the information. That raised a lot of ethical questions, but there is another consideration here.

If we're putting a price tag on genetic material, who should benefit financially? The companies and scientists who process the information or the people who gave their genetic material? And if so, how much is your genetic data worth? Grant Hill looked into it.

In 2014, Aldo DePabe worked for one of the largest medical journal publishers in the world, helping startups make research results more accessible by creating ways to upload findings online. We were all about open science, make it all available so we can all achieve scientific progress, essentially. At one point, there was a professor who really took it to heart, and what he uploaded to the infrastructure website

A VCF is a data file, like an Excel spreadsheet or a PDF, but for the genetic makeup of a human being. He uploaded that VCF to the infrastructure saying, this is also for science. Here's the genome of my son.

And that's where we paused because your DNA, we say, is the blueprint to who you are. In your lifetime, you will have one highly identifiable piece of information and that's your DNA, right? You will have multiple phone numbers, multiple home addresses, but you will only have one genome. So if that's the case, then we better be very careful with it. And this professor was doing the exact opposite.

But the incident got Aldo and a geneticist on his team thinking. Sequencing DNA had become a lot faster and cheaper since the early days. Easier to learn more about your own DNA and harder to keep it all private. Then in 2018 came news of a major deal between 23andMe and GlaxoSmithKline. One of the biggest pharmaceutical companies in the world for $300 million, right?

And that was the first time that it revealed its real business model, which is basically selling data on to the pharmaceutical and research industry. Access to the exomes, or DNA samples, of over 5 million people. The sample quality of an exome isn't anywhere near that of a full genomic sequence, but it does contain most disease-related variants. A clinically graded genome is at 30x genomic.

Whereas an exome is done a lot more lighter at 5x. But that just made the deal even more eye-popping.

$300 million for about 5 million exomes. That's 60 bucks per exome. Just two years later, that value seemed to shoot up when the private equity firm Blackstone acquired 23andMe competitor Ancestry.com and its 18 million DNA samples for $4.7 billion.

or $250 per egg zone. That also was a signal for us, like, okay, this can only go one way, right? Customers had paid to spit in a test tube to have their most personal information analyzed and, in some cases, shared with researchers. But now, that very personal information was being treated like a commodity, sold without customers sharing in the profit.

Aldo and that geneticist he worked with didn't see this trend slowing down. So on top of it being the blueprint to who you are, on top of it being highly identifiable, it also had an exponentially growing monetary value, which for us was a recipe of

"Genomes.io is Aldo's company, a DNA testing service that keeps genetic information in a virtual vault using encryption and blockchain technology.

giving only users access to their genetic information, with the option to opt in to third-party research, and even in some circumstances, getting paid for it. Our infrastructure is something that we would like to call a virtual laboratory. On the supply side, individuals pay Aldo's company to sequence their DNA, run health and ancestry reports, and securely store their information, information customers retain ownership of.

On the demand side, researchers pay his company to access and analyze that encrypted information with the individual's permission and without having to personally front all the costs to comply with privacy laws.

Genomes.io is still just a startup with only a little over 6,000 subscribers. And that's a big challenge because when it comes to DNA samples, geneticist Ernst Hafen says their value typically comes from scale. The DNA alone is not valuable very much. He says he learned this the hard way.

Back in the early 80s, Ernst was at the forefront in the field of developmental genetics, studying the DNA of fruit flies as a model for human beings. The ultimate goal of his research was to target specific genes that could someday be altered to cure diseases or stop cancer in its tracks. We were totally naive. He formed a startup in the late 90s called The Genetics Company.

Ernst and his co-founders thought they'd quickly identify these bad genes and get bought out by some pharmaceutical giant, a company that could do the expensive grunt work of bringing a therapy to market. And while some therapies for cancer and rare diseases would later prove their original hypothesis, the research wasn't nearly as fruitful as Ernst hoped.

It soon became clear that the utility of genetic information alone was quickly running out. You have to put this in the context of your population. You have to put this in the context of your family history, etc. And in the context of the rest of your genome.

your specific combination of genes and what that combination results in. We've been always focusing my entire career to try to pin down something to a single gene, right? Because that's what we've been able to do.

But evolution and natural selection has really never cared about single genes. Ernst says what really matters is your phenotype, the expressions of your genes. Whether you get good sleep or have high cholesterol, this is the kind of information found in your medical records. Without it, he says, most people's DNA would likely reveal little to researchers.

By 2006, Ernst's company was bankrupt, but it taught him a valuable lesson that rooting out the secret cause of all disease was not something researchers could really narrow down with a simple DNA sample.

That's why today, Ernst is helping lead an initiative in Sweden to consolidate medical data in one secure location, controlled by patients. He says DNA remains an important part of your larger health profile, but it's not the only part.

But right now, at least, it's not exactly any more valuable than any other health indicator. Because if you are an insurance company in the United States and you want to adjust the premium, yes, you can say, OK, give me your genome and based on your genome, I make you an offer.

But it is actually much more valuable and much easier to get your credit card purchases and find out that you always order XXL clothes because either you already have type 2 diabetes or you're going to get it very soon. And that hikes up the treatment costs because this is a chronic disease. So I'm saying, yes, genetics can tell you something, but genetics.

It is much more abstract. But as long as the market believes genetic data might hold some extra special value in the future, someone will be trying to get it on the cheap. That is why Genomes.io founder Aldo DePape wants people to start thinking about their DNA like their online browsing history or credit score.

He thinks as the science of genetics progresses, those major acquisitions will only continue. Whenever there is such a transaction, do the numbers yourself. And they will all show you, yes, there is monetary value. Which means you should fight to keep your DNA, yours alone. That story was reported by Grant Hill.

That's our show for this week. The Pulse is a production of WHYY in Philadelphia. You can find us wherever you get your podcasts. Our health and science reporters are Alan Yu and Liz Tong. Our intern is Najee Greenidge. Charlie Kier is our engineer, and this week we had additional engineering from Diana Martinez. Our producers are Nicole Curry and Lindsay Lazarski. I'm Maiken Scott. Thank you for listening.

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Behavioral Health Reporting on the Pulse is supported by the Thomas Scattergood Behavioral Health Foundation, an organization that is committed to thinking, doing, and supporting innovative approaches in integrated healthcare. WHYY's health and science reporting is supported by a generous grant from the Public Health Management Corporation's Public Health Fund. PHMC gladly supports WHYY and its commitment to the production of services that improve our quality of life.