National Institutes of Health Director Francis Collins, MD, PhD, took to Reddit April 20 to answer users' questions about precision medicine, the Human Genome Project and how he balances religion and science.
Dr. Collins hosted the Reddit AMA — "Ask Me Anything" — thread in advance of April 25's National DNA Day, which commemorates the completion of the Human Genome Project. The AMA is part of an NIH-led public awareness campaign dubbed "15 for 15," which highlights 15 ways research has shown genomics influence daily life, from ancestry to agriculture.
Spearheaded by the NIH's National Human Genome Research Institute, the Human Genome Project constituted an international research effort to map a complete sequence of the human genome. The agency published its completed research in 2003, revealing there are an estimated 20,500 genes in the human genome.
Dr. Collins led the Human Genome Project during his tenure as director of the National Human Genome Research Institute, which he began in 1993. He left the post in 2008 after former President Barack Obama appointed him to NIH director in 2009.
Here are seven of the most interesting questions Dr. Collins answered during his Reddit AMA.
Editor's note: Some questions and responses have been edited for length and clarity.
1. Can you push back 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?
Dr. Francis Collins: 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.
2. What are your thoughts on the various private [direct-to-consumer] genetic kits (23andMe, etc.) and the potential to abuse private genetic information for corporate gain?
FC: 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.
3. How do you see funding for science changing over the next 10 to 15 years? Do you expect a shift toward any areas of research that are relatively under-funded now, or a shift away from any areas that are well-funded?
FC: 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.
4. I'm a current PhD student in toxicology, and I've heard many of my professors say that it's tough to get NIH grants unless your proposal is more translational and relevant to improving clinical outcomes for widespread diseases like cancer and Alzheimer's. … How can we make our grants stronger when we try to understand mechanism rather than improve patient outcomes?
FC: With due respect to your professors, NIH is actually intensely interested in research projects that study basic mechanisms. About 53 percent 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!
5. Have you seen Gattaca [a 1997 science fiction film about eugenics], and what are your thoughts on it?
FC: 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.
6. 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?
FC: 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?
7. 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.
FC: The famous geneticist Theodosius Dobzhansky famously wrote, "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.
To access Dr. Collins' AMA on Reddit, click here.