By Douglas F. Dluzen
It’s rare that I hear about a scientific breakthrough or discovery and get goosebumps on my arms. Until a few weeks ago, the last time was in 2016 when I was driving in to work at the NIH in Baltimore. NPR had just announced that LIGO had confirmed Einstein’s prediction of the existence of gravity waves. I was astounded that Einstein was still reaching out from his grave to teach us about the world. Those in Stockholm agreed, as the Nobel Prize in Physics was awarded in 2017 for this monumental discovery.
I was in my car again last November, this time driving to my lab at Morgan State, when I heard on NPR that Chinese researcher Dr. He Jiankui had performed CRISPR gene-editing on the embryos of two twin girls born in China in 2018. Unless there is yet another shocking discovery, these babies are the world’s first CRISPR-modified humans that developed from a single cell—and also carrying the modification in their own germline cells to be passed on to future generations.
Unless there is yet another shocking discovery, these babies are the world’s first CRISPR-modified humans that developed from a single cell—and also carrying the modification in their own germline cells to be passed on to future generations.
In my current article in the January/February 2019 Analog, “Epigenetics: The Future of Genetics in Health and Fiction,” I discuss the use of the gene-editing toolkit CRISPR as a hypothetical way a fictional scientist could induce genetic changes as a plot point (or used as a background world-building theme). Stories like GATTACA and Seveneves rely on this technology to feasibly construct the societies described in each, and in the many other published stories that feature genetically modified characters.
It seemed to me only a matter of time before we were tinkering with our own genomes in such a way that would allow us to make decisions and influence the development of the next generations to come. That’s not to say that using CRISPR on humans hasn’t already occurred, but only in the sense of trying to combat disease.
CRISPR gene-editing is being piloted in clinical trials to help patients. One pilot study involves transplanting edited immune cells into HIV-positive patients and studying whether this procedure is a tolerable for the patient and if there are any downstream health benefits. The modified cells are thought to be able to better fight off HIV infection, or at least slow down the progress of the virus. One day, CRISPR interventions like this may even be able to prevent cancer, delay aging, slow the onset of other age-related conditions such as dementia and frailty, or prevent the development of inherited diseases like sickle cell anemia, Type I diabetes, cystic fibrosis, Huntington’s, and many others.
But editing the human germline, egg and sperm and related progenitor cells that give rise to our children and to their children, is an entirely different animal with consequences that reach far into shaping what it means to be human. The reality of this power has not escaped researchers. After Dr. Jennifer Doudna published her landmark paper in 2012 showing the use of CRISPR in bacteria (hello Nobel Prize!) and Dr. Feng Zhang followed up with his paper editing mammalian cells, it was quite clear the implications of this technology in medicine, agriculture, and human development.
A noble cause for sure, but the temptation to experiment with this technology for less altruistic means will only increase.
Scientists have tried to put measures into place to try to keep CRISPR technology in check, but the regulation of science is not the easiest of things to do. In the United States and European Union, for example, the editing of viable human embryos is prohibited with public funding and without extensive institutional oversight (editing non-viable embryos, which cannot develop into a living person, does occur to investigate how human beings grow during the earliest stages of life). But other countries, like Japan, are looking into removing these blocks to begin investigating the use of CRISPR to prevent genetic diseases that are inherited and present from birth. A noble cause for sure, but the temptation to experiment with this technology for less altruistic means will only increase.
In China these regulations are very loose, which provided an opportunity for Dr. Jiankui to make history with his experiment. He edited a gene called CCR5, which is a protein gateway that HIV uses to gain entry into our immune cells. He used CRISPR to disable CCR5’s function in order to prevent the possible transmission of HIV to the baby girls from their HIV-infected father. Again, it’s perhaps a noble cause to prevent the transmission of a terrible disease, but the lack of oversight for this experiment, including the informed consent process, and the secrecy behind it has the world in an uproar. There are rumors that a second pregnancy with additional embryos has already begun. At this time, it is unclear what the side effects will be in these two girls as they develop into children and adults
Dr. Francis Collins, Director of the National Institutes of Health, also learned about this experiment listening to the same NPR news segment that I heard on my way to work. He’s worried that the backlash against the use of CRISPR in viable human embryos will also harm efforts to use this technology to treat adults (using protocols that will not establish a permanent change in the human germline and be passed onto the next generation). Many in the biomedical community share his concerns, and there is still no consensus on whether there should be a world-wide moratorium on the use of CRISPR in the germline, or how that would even be accomplished. Some influential geneticists like Dr. George Church even think that it may have been time for Dr. Jiankui’s experiments to push the field forward. However, Dr. Church does cite concerns with how the experiment was performed, including the ethical considerations that are typically addressed before any such procedure is performed.
Paperwork issues or not, when I got to work that morning, I knew the world had changed. Sure, Dr. Jiankui may be ostracized for his actions (he’s under investigation by Chinese authorities for potential research misconduct), but that first hurdle to create a CRISPR baby has now been overcome. And if there is anything humans are excellent at doing, it’s pushing the boundaries further and further until we look back and wonder how it all began, and how it could have been prevented.
And if there is anything humans are excellent at doing, it’s pushing the boundaries further and further until we look back and wonder how it all began, and how it could have been prevented.
Personally, I think that the scope of this technology is now well beyond the sphere of scientific influence. All of the public and the resources and authorities of our governments need to come together to figure out how CRISPR will be used in society. We really are inching towards designer babies, modified humans, and all those other strange fictions that we dream up with for our stories. Perhaps it’s time scientists borrow from science fiction, and not the other way around, to find a solution for this challenge and maintain a happy ending.
Douglas Dluzen, PhD, is an Assistant Professor of Biology at Morgan State University in Baltimore, MD. He is a geneticist and has studied the genetic contributors to aging, cancer, hypertension, and other age-related diseases. Currently, he studies the biology of health disparities and the microbiome in Baltimore City. He teaches evolution, genetics, and scientific thinking and you can find more about him on Twitter @ripplesintime24. He loves to write science and science fiction while sitting on the couch with his wife Julia, their dog, cat, and newborn son Parker.