Francis Collins, NIH Director, Answers Reddit’s Genomics Questions

By Brandon Levy

Wednesday, April 25, 2018

Ever since the Human Genome Project (HGP) launched in 1990, patients and members of the public have been inundated with predictions about how unraveling the mysteries of genetics will revolutionize healthcare. Today, many of these promises remain unrealized, prompting some to become skeptical of the true utility of this research for improving human health. But, while more work is needed to fully realize the potential of genome-focused medicine, it remains true that patients are benefiting from our knowledge of the human genome in numerous, sometimes under-appreciated ways.

As a physician and genetics researcher who played a central role in the HGP, NIH Director Francis Collins, M.D., Ph.D., is one of the world’s leading experts in the relationship between our DNA and our health. What’s more, his position at the NIH gives him a front-row seat to the innovative ways in which this work is making its way into the clinic.

On Friday, April 20, in anticipation of National DNA Day on April 25, Dr. Collins participated in a Reddit “Ask Me Anything” (AMA) to answer questions from the public about how our increasing knowledge of the human genome is affecting their lives, as well as what might lie in store for this important work in the future. Read on for some of the most interesting exchanges that took place or check out the full AMA on Reddit.

Question (Q): “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?”

Francis Collins, M.D., Ph.D.: “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.”

Q: “In hindsight, do people associated with [the HGP] have any regret about the coining of the term ‘junk DNA’ to describe regions that weren't immediately related to protein-coding genes?”

Dr. Collins: “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.”

Q: “What are your thoughts on genotype not being a great predictor of phenotype?”

Dr. Collins: “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.”

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

Dr. Collins: “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.”

Q: “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?”

Dr. Collins: “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 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.”

Q: “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?”

Dr. Collins: “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.”

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

Dr. Collins: “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.”

Q: “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 you keep them mentally separated? What will the future of scientific discovery bring for religious people?”

Dr. Collins: “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.”

Q: “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!”

Dr. Collins: “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.”

Q: “Aside from CRISPR, what's the next big thing in genetics?”

Dr. Collins: “The next big thing may be 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.”

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