I’m Francis Collins, Director of the National Institutes of Health. As we celebrate the 15th anniversary of the completion of the Human Genome Project, I’m here to talk about its history and the critical role it has played in precision medicine. Ask me anything!

Abstract

Hi Reddit! I’m Francis Collins, the Director of the National Institutes of Health (NIH) where I oversee the efforts of the largest public supporter of biomedical research in the world. Starting out as a researcher and then as the director of the National Human Genome Research Institute, I led the U.S. effort on the successful completion of the Human Genome Project. Next week, on April 25th, the 15th anniversary of that historic milestone, we will celebrate this revolutionary accomplishment through a nationally-recognized DNA Day.

In my current role as NIH Director, I manage the NIH’s efforts in building innovative biomedical enterprises. The NIH’s All of Us Research Program comes quickly to mind. The program’s goal is to assemble the world’s largest study of genetic, biometric and health data from U.S. research volunteers, which will be available to scientists worldwide. This data will help researchers explore ways we can improve health and prevent and treat disease, as well as guide development of therapies that consider individual differences in lifestyle, environment, and biology. We also hope that this will give our volunteer research participants a deeper knowledge of their own health and health risks. Starting this spring, Americans across the country will be invited to join the All of Us Research Program as research participants. If you are 18 years or older, I hope you’ll consider joining!

I’m doing this AMA today as part of a public awareness campaign that focuses on the importance of genomics in our everyday lives. The campaign is called “15 for 15” – 15 ways genomics is now influencing our world, in honor of the Human Genome Project’s 15th birthday! Check out this website to see the 15 advances that we are highlighting. As part of the campaign, this AMA also kicks off a series of AMAs that will take place every day next week April 23-27 from 1-3 pm ET.

Today, I’ll be here from 2-3 pm ET – I’m looking forward to answering your questions! Ask Me Anything!

UPDATE: Hi everyone – Francis Collins here. Looking forward to answering your questions until 3:00 pm ET! There are a lot of great questions. I’ll get to as many as I can in the next hour.

UPDATE: I am wrapping up here. Thanks for all the great questions! I answered as many as I could during the hour. More chances to interact with NIHers and our community next week leading up to DNA Day. Here’s the full lineup: http://1.usa.gov/1QuI0nY. Cheers!

Hi and welcome!

  1. What are your thoughts on the various private genetic kits (23andMe, etc...) and the potential to abuse private genetic information for corporate gain?

  2. Thoughts on genotype not being a great predictor of phenotype?

  3. As the NIH director, what were your thoughts on the "seven banned words" CDC budget controversy?

PHealthy

Thanks for your questions. I've answered in the order you asked. 1. I can speak generally about such kits. I think that individuals who are interested in obtaining information about their DNA and are willing to pay for it ought to be able to do so. But it’s critical that they also get accurate interpretations of what it all means. Genetic information ought to be held privately unless the individual decides to disclose it. 2. Phenotype depends on environmental exposures, health behaviors, and yes, genotypes. Some genotypes are highly predictive, such as having a Huntington’s disease mutation. Many other genotypes play only a modest role and are influenced heavily by the environment. 3. That story was more complicated than it appeared; I’d suggest you ask the CDC.


Hi Dr. Collins, thanks for joining us!

The work that led to The Human Genome Project was pioneered by Dr. Ron Davis, an extremely well respected scientist and innovator. Given Dr Davis' track record on work like this, the NIH have any plans to support his current work in finding a treatment or cure for myalgic encephalomyelitis?

Edit: For others, ME/CFS or myalgic encephalomyelitis is a systemic neuroimmune disorder that leads to debilitating pain, fatigue and other symptoms, and has the worst quality of life score on record. Dr. Davis' son has one of the worst cases of this disease and is unable to move, speak, eat, or tolerate light, sound, or touch. So the man whose work led to the Human Genome Project is now putting all his resources into fighting to save his son's life, and millions of others with ME/CFS across the world.

theduckopera

The NIH has has significantly increased its funding for ME/CFS research from $8 million in FY 2016 to approximately $14.7 million in FY 2017. We are currently finalizing FY 2017 funding numbers, and once complete will post on NIH’s Estimates of Funding for Various Research, Condition, and Disease Categories (RCDC): https://report.nih.gov/categorical_spending.aspx. All interested investigators will be encouraged to apply and funding decisions will be based on rigorous peer review.

Additionally, the NIH Clinical Center launched a clinical study focused on post-infectious ME/CFS to closely examine the clinical and biological characteristics of the disorder and improve our understanding of its cause and progression.

In June 2017, NIH awarded a grant to an M.D./Ph.D. graduate student to investigate the neural correlates of fatigue in ME/CFS. This is one example of NIH’s efforts to attract young investigators to this area of research.

In September 2017, NIH announced grants to establish create three collaborative research centers that will conduct independent research, but will collaborate on several projects, along with a Data Management Coordinating Center.

We recognize and empathize with the suffering experienced by people with ME/CFS and their frustration that so little is known. We are working to change that. Research, done correctly, takes time. We look forward to continued partnerships with the ME/CFS community as we work through the scientific process.


Hi Dr. Collins, why are we currently unable to use gene editing to cure genetic diseases in patients? What are the hurdles we have to jump over to make this a reality?

mikeosteenstra

Hi Dr. Collins, why are we currently unable to use gene editing to cure genetic diseases in patients? What are the hurdles we have to jump over to make this a reality?

I agree that the potential of gene editing to provide cures for those thousands of diseases where we know the DNA mutation is extremely exciting. But let’s not underestimate the challenge of delivering the gene editing apparatus (such as CRISPR) to the right the cells at high enough efficiency to correct the defect without causing harm. We will get there first for conditions that affect cells that can be treated outside of the body (ex vivo). A likely example that many of us hope will see its first cures in the next five years is Sickle Cell Disease. NIH has recently announced a new program to speed up the therapeutic uses of gene editing and we will spend $190 million on that program over the next five years. Here’s more info: https://commonfund.nih.gov/editing


In addition to being a prolific scientist, I understand you're also quite religious. As both a Christian and somebody who has mapped the human genome and essentially proved/reaffirmed evolutionary theory, how do you reconcile your faith with all of your scientific knowledge? Does science have anything to do with influencing your beliefs or do keep them mentally separated? What will the future of scientific discovery bring for religious people?

bdresner

Science is the way to answer questions about the natural universe. But science can’t really answer questions such as: Why are we here? What happens after we die? Or is there a God?. I think those are interesting questions. I’ve never encountered a conflict between my scientific and spiritual world views as long as I keep clear about which kind of question is being asked.

If God chose to use the mechanism of evolution to create the marvelous diversity of living things on this planet, who are we to say we wouldn’t have done it that way?

If you are interested in how other thoughtful people are debating these issues about science and faith, check out https://biologos.org/.


I'm a current PhD student in Toxicology, and I've heard many of my professors say that its tough to get NIH or even NIEHS grants unless your proposal is more translational and relevant to improving clinical outcomes for widespread diseases like cancer and alzheimer's.

Given that in my field we generally study the effects of low dose exposures from environmental toxicants on developing a health outcome and the mechanism by which it occurs, to hopefully inform preventative efforts, how can we make our grants stronger when we try to understand mechanism rather than improve patient outcomes?

backwardinduction1

With due respect to your professors, NIH is actually intensely interested in research projects that study basic mechanisms. About 53% of our budget goes to basic science. Yes, we are interested in translational research and clinical research, but we understand that basic science is critical to develop information for translation. So if you have a compelling basic science proposal, ideally with some preliminary data, bring it on!


Dr. Collins, thank you so much for doing this AMA.

I would like to ask you about something you said in your Statement on NIH funding of research using gene-editing technologies in human embryos. Specifically this:

"However, NIH will not fund any use of gene-editing technologies in human embryos. The concept of altering the human germline in embryos for clinical purposes has been debated over many years from many different perspectives, and has been viewed almost universally as a line that should not be crossed. Advances in technology have given us an elegant new way of carrying out genome editing, but the strong arguments against engaging in this activity remain. These include the serious and unquantifiable safety issues, ethical issues presented by altering the germline in a way that affects the next generation without their consent, and a current lack of compelling medical applications justifying the use of CRISPR/Cas9 in embryos."

Given the unambiguous statement on this issue by the International Summit On Human Gene Editing that left a clear, though not entirely wide, door open for human gene editing; have your thoughts on this issue and how it relates to your leadership of the NIH evolved?

For those following along, this is the relevant section of the consensus statement, briefly, they have ruled out either a ban or a moratorium on the modification of human embryos that are destined to become people, however they also stated that altering the DNA of human embryos for clinical purposes was unacceptable for any currently proposed project and called for the careful individual consideration of any future proposals as the technology continues to advance.

"...Gene editing might also be used, in principle, to make genetic alterations in gametes or embryos, which will be carried by all of the cells of a resulting child and will be passed on to subsequent generations as part of the human gene pool. Examples that have been proposed range from avoidance of severe inherited diseases to ‘enhancement’ of human capabilities. Such modifications of human genomes might include the introduction of naturally occurring variants or totally novel genetic changes thought to be beneficial.

Germline editing poses many important issues, including: (i) the risks of inaccurate editing (such as off-target mutations) and incomplete editing of the cells of early-stage embryos (mosaicism); (ii) the difficulty of predicting harmful effects that genetic changes may have under the wide range of circumstances experienced by the human population, including interactions with other genetic variants and with the environment; (iii) the obligation to consider implications for both the individual and the future generations who will carry the genetic alterations; (iv) the fact that, once introduced into the human population, genetic alterations would be difficult to remove and would not remain within any single community or country; (v) the possibility that permanent genetic ‘enhancements’ to subsets of the population could exacerbate social inequities or be used coercively; and (vi) the moral and ethical considerations in purposefully altering human evolution using this technology.

It would be irresponsible to proceed with any clinical use of germline editing unless and until (i) the relevant safety and efficacy issues have been resolved, based on appropriate understanding and balancing of risks, potential benefits, and alternatives, and (ii) there is broad societal consensus about the appropriateness of the proposed application. Moreover, any clinical use should proceed only under appropriate regulatory oversight. At present, these criteria have not been met for any proposed clinical use: the safety issues have not yet been adequately explored; the cases of most compelling benefit are limited; and many nations have legislative or regulatory bans on germline modification. However, as scientific knowledge advances and societal views evolve, the clinical use of germline editing should be revisited on a regular basis."

Leading up to the summit, there has been a fascinating and unusually wide disagreement in the literature about the ethical and social implications of human gene editing.

Also relevant:

Edit: Grammer

BBlasdel


Dr. Collins, have you seen Gattaca (1997), and what were/are your thoughts on it?

cfcfever

I saw it four times when it first came out. I even served as the movie critic for NBC in prime time. I thought the film was very provocative and helped to point out both the promise and the peril with advances in genomics if they are not connected to social and ethical concerns.


What are the strangest/most interesting grant proposals you have ever seen come through the NIH?

dgriner

It’s hard to pick one. We actually try to encourage wacky ideas as part of programs like the Pioneer Awards: https://commonfund.nih.gov/pioneer. An example that sounded like science fiction but has now become mainstream in many research labs was a trick to make neurons fire when activated by light. That’s called Optogenetics and it has transformed our ability to understand how the brain works.


How do you see funding for science changing over the next 10-15 years? Do you expect a shift toward any areas of research that are relatively underfunded now, or a shift away from any areas that are well funded?

meta-cognizant

Science is moving so quickly that it’s hard to make predictions for more than just a few years, but it’s clear that one area that will need much more investment is data science. Biomedical research is now producing petabytes of data every day in a fashion that no one anticipated 20 years ago. There is a pressing need for more computational biologists. There will also be more opportunities for scientists to work in teams as opposed to individual small laboratories, and NIH is working out ways to encourage those kinds of interdisciplinary projects.


In hindsight, do people associated with program have any regret about the coining of the term "junk DNA" to describe regions that weren't immediately related to protein coding genes?

unintentional_irony

Yes! That was an unfortunate term, and I hope I was not one of the ones who used it . . . at least not very often. We are learning more every day about the 98 percent of the genome that does not code for protein but determines how genes turn on and off in specific tissues during development and after environmental exposures. That’s incredibly important information. It certainly is not junk.


Can you push back, with specific examples, on the naysayers who claim that the Human Genome Project has largely failed to deliver on 'revolutionizing' medicine and human health as was promised over 20 years ago?

SexyHexoses

Sure! If you were diagnosed with cancer today, you would want to be sure that your cancer was subjected to genome sequencing to identify what pathways are causing those cells to become malignant. You would then want to use that information to choose the right course of treatment for your particular cancer, not some one-size-fits-all approach. Second example: If your newborn child became suddenly ill with no obvious explanation, you would want a complete genome sequence as quickly as possible to identify the cause and a potential treatment. All these applications are made possible because of the Human Genome Project.


Aside from CRISPR, what's the next big thing in genetics?

shiruken

The next big thing maybe the ability to do biology on individual single cells. That is starting to happen using technologies that are capable of telling you which genes are on or off in just one cell. Since cells are the unit of life for all organisms, this opens up a window of biological understanding that will have profound consequences.


Hi Dr Collins, what age do you think is the right age to start engaging kids with concepts of evolution and genetics? I think most schools leave it till high school but I’d love to see these ideas introduced earlier, like in primary/elementary school. Thanks!

JordieBelle

The famous geneticist Dobzhansky famously wrote that, “Nothing in biology makes sense except in the light of evolution.” I agree with that statement. So it would make sense to introduce evolution in school as soon as one starts to talk about life science. Would you teach chemistry without explaining atoms and molecules? I continue to be concerned that schools shy away from teaching evolution for non-scientific reasons, and put their students in an awkward position later on because they have not been given the chance to understand the most fundamental principle of biology. It’s unfortunate that in the United States evolution is seen as threatening to religious faith. As a scientist and a Christian, I see no conflict at all.


Hello and thank you for doing this Ama.

My questions aren't related to genomics so feel free to ignore them.

How are you prioritizing training? NIGMS just canceled their F31 grant applications and I know NIHM just told graduate students that even a 14% score on an F31 application will not be funded. How is training going to be prioritized when it seems like less than 10% of graduate students will be funded?

Why was the decision reversed to cap NIH funding and how do you intend to ensure early and mid-career scientists receive funding?

Why are professors barred from using grant money towards buying computers for their lab?

Thanks again for taking the time do do this Ama. Cheers

Ritteral_ericgarland

NIH is prioritizing efforts to encourage trainees and early stage investigators to have confidence in the promise of a career pathway. With increased support from the Congress over the last three years, we are able to increase the number of grants that are specifically focused on this group. We call this the Next Generation Researchers Initiative: https://grants.nih.gov/ngri.htm. So be encouraged!


Hi Dr. Collins, thanks for doing this AMA! Do you think advances in precision medicine are being held back by FDA regulations that were largely developed in the pre-genome era? What do you think needs to change to expedite the availability of breakthrough technologies to patients?

cytokindagirl

FDA Director Dr. Gottlieb has made precision medicine and next generation sequencing (NGS) technologies a top priority (https://go.usa.gov/xQWd9) during his tenure. Just last week FDA released final guidance (https://go.usa.gov/xQWdN) that enables innovation in NGS-based diagnostic development and promotes data sharing so that the community can better develop the evidence base for individual genomic differences. Overall, FDA has been an essential partner in ensuring that patients benefit from recent advances in precision medicine. For more information: https://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/PrecisionMedicine-MedicalDevices/default.htm.


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