25 years ago, Francis Collins, MD, PhD, led the international consortium that completed the first draft of the Human Genome Project (HGP), an event marked at an historic White House celebration on June 26, 2000. Earlier this year, Collins abruptly retired from the NIH where he’d served for 32 years, including his historic tenure for 12 years as NIH director.
Francis Collins, MD, PhD
Former Director, NIH
In April, Collins sat down with GEN editors Alex Philippidis and Fay Lin, PhD, and editorial director Kevin Davies, PhD, to discuss the 25th anniversary of the HGP and reflect on the alarming pressure on science and scientists being felt at universities and government organizations. (These remarks have been edited for length and clarity).
GEN: This June marks 25 years since you walked into the East Room of the White House with J. Craig Venter, PhD, and President Bill Clinton to announce the completion of the first draft of the HGP. What do you recall as you look back on those events?
Collins: I reflect on it as having been a wonderful moment of being able to tell the world that we actually now have in hand—and it’s publicly accessible—roughly 90% of our own DNA instructions. That does feel like crossing a pretty significant bridge into the future. You don’t ever have to go back to where we didn’t know that before.
And feeling incredible gratitude on my part for the 2,400 scientists in six countries who labored to make this happen. Not worrying about who was going to get the credit, agreeing to high standards about the accuracy of the information, and to give it all away.
“I am feeling incredible gratitude on my part for the 2,400 scientists in six countries who labored to make this happen.” Francis Collins [Jacob Wackerhausen / iStock / Getty Images Plus]
Yes, there was this competition with Craig Venter, having announced in May ’98 that his company [Celera] was going to tackle this project with, he claimed, a faster and better way to approach the sequencing. The good part of that was it got people’s attention! Now, it’s a race, a competition! People got more engaged: who has the yacht and who has the motorcycle? Somehow those became topics of interest, too.
It was at times stressful trying to keep the public project on track when there were certainly some pressures, some of it encouraged by Venter, that Congress might need to step back their support for the public project because it’s going to get done anyway. It was partly about the technology, but it was really more about the plan for data access. The public project decided back in ‘96 that all the information was going to be made available every 24 hours.
[Celera] by necessity, because they had stockholders, was not going to be able to do that. Their product would end up being something you had to pay to get access to. That was an anathema to me and the other leaders of the public project.
Ultimately, the general conclusion of everyone is this is a good thing to have. That is information that anybody who’s interested can start to work with those three billion base pairs and figure out how to make sense out of them.
GEN: How would you sum up the impact of the human reference genome over the past 25 years, both scientifically and economically?
Collins: What has been the economic return to the United States of the part that the U.S. paid for, which was roughly $3 billion over 13 years to get that first copy of the genome sequence? The last ROI figure I saw was 141:1, probably a couple years ago. So that $3 billion has turned into probably over $1 trillion by now by objective estimates to stimulate economic growth. Not bad.
If we had an opportunity right now that was like the HGP, would it get started? Probably not. It would get done in China.
On the clinical side, the most obvious direct beneficiary of genomic capacity has been cancer. My prostate cancer had its DNA sequenced, and there was an interesting finding there. If I end up with a recurrence, which I hope I will not, that will guide the choice of what to do next. I would say that pretty much has become the standard of care.
The ability to use genomics for infectious disease is just taken for granted. But if we hadn’t had all of the developments during COVID, we would not have been able to discover all these variants that changed everything, the need for redesigning the boosters and all that.
Another thing I like to point at, because it’s pretty dramatic, is what genomics has done in the newborn nursery, when the doctors are struggling to figure out what’s wrong with the available data. Sequence the genome, do it quick, and you get an answer 40% of the time. That’s going to have profound impact on the decision about how to manage that newborn’s survival.
GEN: Do we finally have a truly complete human genome sequence now, 25 years later?
Collins: We may finally be there with the Telomere-to-Telomere consortium! What Adam Philippy, PhD, and his colleagues did was really quite amazing, taking advantage of long reads that could get you across repetitive parts of the genome, like centromeres and heterochromatin. Now there’s an effort to try to build not just one of those, but the pan genome, so that you could see differences across the world, which may help us with [structural variants] in common disease.
The All of Us program, in addition to having some 600,000 whole genomes mostly assembled from short reads, are also doing long reads so that you have complete genome sequences of a few thousand individuals. That has turned out to be a goldmine for people trying to understand structural variants.
GEN: 25 years ago, you offered a host of predictions for the likely medical impact of the Human Genome Project. What fresh predictions do you have for the next 25 years?
Collins: Some of the things I predicted happened faster than I expected, but a lot of the applications to common disease, because the landscape of genetic variation turned out to be so complicated, have not come into full bore the way I would have liked.
I would have hoped we would see everybody having their genome sequence as part of their medical record. That model still is appealing, but we haven’t quite gotten there yet. I think we will in the next 10 years or so. That would also allow the full application of pharmacogenomics, which has such potential to optimize therapeutics. I certainly hope in the next 10 years, a dramatic set of advances of curing Mendelian genetic disorders by in vivo gene editing approaches, including conditions that affect the brain. That will be wonderful to happen.
GEN: What is your reaction to the recent layoffs and funding cuts at NIH, FDA, and other organizations?
Collins: The situation is rather dire. The dismissal of many rank and file scientists at NIH, staff and support people, thousands of individuals without a clear indication of both justification or the choices for how those dismissals are happening has left the institution reeling.
A terrible loss has been that of Eric Green, MD, PhD, who with great energy and creativity led the National Human Genome Research Institute (NHGRI) for 15 years and yet was suddenly let go. The institute then ended up being led by his deputy, Vence Bonham, PhD, but only a week later he was also let go. The speed with which these changes are being made and the lack of planning about how exactly the research is still supposed to go forward is deeply troubling.
The head of the Infectious Diseases Institute, Jeannie Marrazzo, MD, was also let go. So it’s a time at NIH of a great deal of demoralization. Can the mission still go forward with all of the damage that’s been done? We’re in a dark period.
Those young scientists in my former [NHGRI] group are the people I was most worried about. They are representative of a whole generation of young scientists who now are in a vulnerable place, many wondering if their dreams of a career in biomedical science are feasible in this country, or whether they have to think about alternatives, perhaps moving to Europe or Australia, to be able to have the support they’re going to need to live out those dreams.
GEN: Also leaving is Peter Marks, MD, the director of CBER at the FDA, who was held in high regard by the cell and gene therapy community.
Collins: The loss of Peter Marks was a deep tragedy for anybody who cares about vaccine research but also about cell and gene therapy. I worked closely with him during Operation Warp Speed, when those vaccines were developed in just 11 months. He was absolutely heroic in that circumstance and did many things that people thought FDA wouldn’t be able to achieve in the timetable. His leadership of CBER has made it possible for things to happen that might have taken much longer.
GEN: A week after you retired from NIH, you spoke at the March for Science in front of the Lincoln Memorial, stating you were “worried for our country.” What did you mean by that?
Collins: I wrote a book called The Road to Wisdom, which was motivated by my growing concern after spending 12 years as NIH director watching the state of polarization of our country get worse and worse, even in the face of the worst pandemic in more than a century.
I’m particularly worried because [medical research] is an area I care deeply about, but it goes beyond that. Put science and politics together, you got politics. I’m a person of faith and yet I’m deeply troubled to see many faith communities taking on positions that seem like the opposite of what their faith foundations would have passed on.
GEN: You served as NIH director from 2009-2021. What advice do you have for Jay Bhattacharya, MD, the new NIH director?
Collins: I’m glad Bhattacharya is there because there were some pretty awful things that happened in the first two months after the inauguration under the oversight of an acting director who didn’t really have the ability to do much except follow the guidance that was coming down from HHS and the White House.
Bhattacharya is a Stanford professor and previous NIH grantee, a distinguished MD economist. My hope is that he’ll be able to put NIH back in the less political part of the discussion and begin to focus again on what the mission is and how to get there, even in the face of what is right now a major crisis facing the institution. He will have the chance to become the champion for the traditional and visionary goals of NIH, to save lives, reduce suffering, and to use the most visionary kind of rules and technologies to get there.
GEN: What are your future plans now that you have left the NIH?
Collins: I’m still trying to sort that out. I’m trying to do what I can to provide information to the public about why medical research is such a critical part of the future for all of us. and how we need to be sure that it doesn’t get damaged in some serious way by what’s happening right now. If that is going to reduce our chances of finding a cure for Alzheimer’s disease, is that really what we were getting when we decided to vote for this administration?
I understand how to get information in front of people that moves hearts and minds. And it’s usually the patient stories that people need to hear more.
Francis Collins was interviewed for “The State of Multiomics & NGS,” a GEN virtual event broadcast on April 23, 2025. The full version of this interview is freely available to view on demand: bit.ly/StateMultiomics2025.
The post Francis Collins Reflects on Human Genome Project’s 25th Anniversary appeared first on GEN - Genetic Engineering and Biotechnology News.
Francis Collins, MD, PhD
Former Director, NIH
In April, Collins sat down with GEN editors Alex Philippidis and Fay Lin, PhD, and editorial director Kevin Davies, PhD, to discuss the 25th anniversary of the HGP and reflect on the alarming pressure on science and scientists being felt at universities and government organizations. (These remarks have been edited for length and clarity).
GEN: This June marks 25 years since you walked into the East Room of the White House with J. Craig Venter, PhD, and President Bill Clinton to announce the completion of the first draft of the HGP. What do you recall as you look back on those events?
Collins: I reflect on it as having been a wonderful moment of being able to tell the world that we actually now have in hand—and it’s publicly accessible—roughly 90% of our own DNA instructions. That does feel like crossing a pretty significant bridge into the future. You don’t ever have to go back to where we didn’t know that before.
And feeling incredible gratitude on my part for the 2,400 scientists in six countries who labored to make this happen. Not worrying about who was going to get the credit, agreeing to high standards about the accuracy of the information, and to give it all away.
“I am feeling incredible gratitude on my part for the 2,400 scientists in six countries who labored to make this happen.” Francis Collins [Jacob Wackerhausen / iStock / Getty Images Plus]
Yes, there was this competition with Craig Venter, having announced in May ’98 that his company [Celera] was going to tackle this project with, he claimed, a faster and better way to approach the sequencing. The good part of that was it got people’s attention! Now, it’s a race, a competition! People got more engaged: who has the yacht and who has the motorcycle? Somehow those became topics of interest, too.
It was at times stressful trying to keep the public project on track when there were certainly some pressures, some of it encouraged by Venter, that Congress might need to step back their support for the public project because it’s going to get done anyway. It was partly about the technology, but it was really more about the plan for data access. The public project decided back in ‘96 that all the information was going to be made available every 24 hours.
[Celera] by necessity, because they had stockholders, was not going to be able to do that. Their product would end up being something you had to pay to get access to. That was an anathema to me and the other leaders of the public project.
Ultimately, the general conclusion of everyone is this is a good thing to have. That is information that anybody who’s interested can start to work with those three billion base pairs and figure out how to make sense out of them.
GEN: How would you sum up the impact of the human reference genome over the past 25 years, both scientifically and economically?
Collins: What has been the economic return to the United States of the part that the U.S. paid for, which was roughly $3 billion over 13 years to get that first copy of the genome sequence? The last ROI figure I saw was 141:1, probably a couple years ago. So that $3 billion has turned into probably over $1 trillion by now by objective estimates to stimulate economic growth. Not bad.
If we had an opportunity right now that was like the HGP, would it get started? Probably not. It would get done in China.
On the clinical side, the most obvious direct beneficiary of genomic capacity has been cancer. My prostate cancer had its DNA sequenced, and there was an interesting finding there. If I end up with a recurrence, which I hope I will not, that will guide the choice of what to do next. I would say that pretty much has become the standard of care.
The ability to use genomics for infectious disease is just taken for granted. But if we hadn’t had all of the developments during COVID, we would not have been able to discover all these variants that changed everything, the need for redesigning the boosters and all that.
Another thing I like to point at, because it’s pretty dramatic, is what genomics has done in the newborn nursery, when the doctors are struggling to figure out what’s wrong with the available data. Sequence the genome, do it quick, and you get an answer 40% of the time. That’s going to have profound impact on the decision about how to manage that newborn’s survival.
GEN: Do we finally have a truly complete human genome sequence now, 25 years later?
Collins: We may finally be there with the Telomere-to-Telomere consortium! What Adam Philippy, PhD, and his colleagues did was really quite amazing, taking advantage of long reads that could get you across repetitive parts of the genome, like centromeres and heterochromatin. Now there’s an effort to try to build not just one of those, but the pan genome, so that you could see differences across the world, which may help us with [structural variants] in common disease.
The All of Us program, in addition to having some 600,000 whole genomes mostly assembled from short reads, are also doing long reads so that you have complete genome sequences of a few thousand individuals. That has turned out to be a goldmine for people trying to understand structural variants.
GEN: 25 years ago, you offered a host of predictions for the likely medical impact of the Human Genome Project. What fresh predictions do you have for the next 25 years?
Collins: Some of the things I predicted happened faster than I expected, but a lot of the applications to common disease, because the landscape of genetic variation turned out to be so complicated, have not come into full bore the way I would have liked.
I would have hoped we would see everybody having their genome sequence as part of their medical record. That model still is appealing, but we haven’t quite gotten there yet. I think we will in the next 10 years or so. That would also allow the full application of pharmacogenomics, which has such potential to optimize therapeutics. I certainly hope in the next 10 years, a dramatic set of advances of curing Mendelian genetic disorders by in vivo gene editing approaches, including conditions that affect the brain. That will be wonderful to happen.
GEN: What is your reaction to the recent layoffs and funding cuts at NIH, FDA, and other organizations?
Collins: The situation is rather dire. The dismissal of many rank and file scientists at NIH, staff and support people, thousands of individuals without a clear indication of both justification or the choices for how those dismissals are happening has left the institution reeling.
A terrible loss has been that of Eric Green, MD, PhD, who with great energy and creativity led the National Human Genome Research Institute (NHGRI) for 15 years and yet was suddenly let go. The institute then ended up being led by his deputy, Vence Bonham, PhD, but only a week later he was also let go. The speed with which these changes are being made and the lack of planning about how exactly the research is still supposed to go forward is deeply troubling.
The head of the Infectious Diseases Institute, Jeannie Marrazzo, MD, was also let go. So it’s a time at NIH of a great deal of demoralization. Can the mission still go forward with all of the damage that’s been done? We’re in a dark period.
Those young scientists in my former [NHGRI] group are the people I was most worried about. They are representative of a whole generation of young scientists who now are in a vulnerable place, many wondering if their dreams of a career in biomedical science are feasible in this country, or whether they have to think about alternatives, perhaps moving to Europe or Australia, to be able to have the support they’re going to need to live out those dreams.
GEN: Also leaving is Peter Marks, MD, the director of CBER at the FDA, who was held in high regard by the cell and gene therapy community.
Collins: The loss of Peter Marks was a deep tragedy for anybody who cares about vaccine research but also about cell and gene therapy. I worked closely with him during Operation Warp Speed, when those vaccines were developed in just 11 months. He was absolutely heroic in that circumstance and did many things that people thought FDA wouldn’t be able to achieve in the timetable. His leadership of CBER has made it possible for things to happen that might have taken much longer.
GEN: A week after you retired from NIH, you spoke at the March for Science in front of the Lincoln Memorial, stating you were “worried for our country.” What did you mean by that?
Collins: I wrote a book called The Road to Wisdom, which was motivated by my growing concern after spending 12 years as NIH director watching the state of polarization of our country get worse and worse, even in the face of the worst pandemic in more than a century.
I’m particularly worried because [medical research] is an area I care deeply about, but it goes beyond that. Put science and politics together, you got politics. I’m a person of faith and yet I’m deeply troubled to see many faith communities taking on positions that seem like the opposite of what their faith foundations would have passed on.
GEN: You served as NIH director from 2009-2021. What advice do you have for Jay Bhattacharya, MD, the new NIH director?
Collins: I’m glad Bhattacharya is there because there were some pretty awful things that happened in the first two months after the inauguration under the oversight of an acting director who didn’t really have the ability to do much except follow the guidance that was coming down from HHS and the White House.
Bhattacharya is a Stanford professor and previous NIH grantee, a distinguished MD economist. My hope is that he’ll be able to put NIH back in the less political part of the discussion and begin to focus again on what the mission is and how to get there, even in the face of what is right now a major crisis facing the institution. He will have the chance to become the champion for the traditional and visionary goals of NIH, to save lives, reduce suffering, and to use the most visionary kind of rules and technologies to get there.
GEN: What are your future plans now that you have left the NIH?
Collins: I’m still trying to sort that out. I’m trying to do what I can to provide information to the public about why medical research is such a critical part of the future for all of us. and how we need to be sure that it doesn’t get damaged in some serious way by what’s happening right now. If that is going to reduce our chances of finding a cure for Alzheimer’s disease, is that really what we were getting when we decided to vote for this administration?
I understand how to get information in front of people that moves hearts and minds. And it’s usually the patient stories that people need to hear more.
Francis Collins was interviewed for “The State of Multiomics & NGS,” a GEN virtual event broadcast on April 23, 2025. The full version of this interview is freely available to view on demand: bit.ly/StateMultiomics2025.
The post Francis Collins Reflects on Human Genome Project’s 25th Anniversary appeared first on GEN - Genetic Engineering and Biotechnology News.