In November 2018 a Youtube video was published by Chinese researcher He Jiankui with a radical claim that shook the world’s scientific community, the birth of the world’s first genetically altered babies. Jiankui, a researcher at the Southern university of Science & Technology in the city of Shenzen China, reportedly used the gene-editing technique CRISPR Cas9 on human embryos in an effort to make them resistant to HIV infection. Will this mark the start of a new era of designer genetics? And what are the ethical and legal repercussions?
CRISPR, the technique used by the Chinese scientist, is a revolutionary gene editing tool that makes use of an enzyme found in bacteria that allows scientists to search for specific sequences of DNA and replace them with a sequence of their choosing. It can be used to inactivate flawed genes and insert completely new ones into living organisms. The technique has untold potential and with greater understanding of the intricacies of how our genes affect us may lead to future therapies for currently incurable genetic diseases.
However at present CRISPR technology is still in its infancy, having only been developed circa 2012 and used for the first time in mammals in 2017. While it is an accurate and very effective technique, there are still risks of off target effects as well as unexpected consequences from even desired genetic changes. It is not surprising therefore that the rise of the CRISPR revolution has also not been without controversy, especially when the ethical debate of the use of gene editing is brought to the table.
The main ethical dilemma of human gene editing is the editing of genes that can be passed onto future generations, known as germline editing. When the genes of a developing embryo are altered, the change is introduced not only to the individual but to their offspring and their future generations, entering into the human gene pool over time. Enough is not yet known about the precise roles of all of our genes and how they interact and influence each other, making the editing of the DNA of future generations a risky business.
As such, research using human embryos has been put under strict regulations internationally with 29 countries, mainly in the European Union legally banning the practice and others such as the United States imposing tight restrictions. In 2015 Dr. Jennifer Doudna of UC Berkeley, one of the researchers who initially developed CRISPR and a team of experts in the field, authored a paper calling for a worldwide moratorium on inheritable genetic editing, in order to allow scientists and governments time to assess the full implications of its use.
A panel of UNESCO scientists called for a similar worldwide ban cautioning that “Interventions on the human genome should be admitted only for preventive, diagnostic or therapeutic reasons and without enacting modifications for descendants”
Coincidentally, that same year the first reports of edited human genomes came from China, with a group of scientists in Guangzhou using CRISPR to edit unviable human embryos taken from fertility clinics. The embryos in the study were unable to be implanted and brought to full term, but the development caused widespread controversy at the time.
This event was perhaps an early indicator of what was to come, bringing us to He Jiankui’s work this past November, which claims to have taken embryonic editing out of the research lab and into the real world, with the birth of genetically modified twin girls. The Stanford-educated scientist’s goal was to edit the CCR5 gene, a gene that codes for a protein on the surface of certain immune cells, which is used by the HIV virus to gain entry and infect them. In a typical HIV infection these immune cells are attacked and destroyed, eventually leading to AIDS. A condition where the immune system is totally compromised, leaving the patient vulnerable to any opportunistic infections that may be fatal. By editing this gene He aimed to create HIV resistance in the girls.
This may seem like a worthy use of such technology, however He’s methods have been condemned as radical and concerning. The scientist undertook his work with couples where the male partners were HIV positive and it is not known how well informed the participants were of what was actually taking place. Another issue is that HIV is no longer considered a fatal condition, with proper medication and precautions, HIV positive people can live a relatively normal life. Therefore, the risks of genetically editing otherwise completely healthy embryos outweigh the potential benefits. At present, it is reported that the babies are normal and healthy, however the removal or editing of a gene may lead to as yet unknown consequences later in life such as cancer, which are undoubtedly concerning. It also may leave the babies more vulnerable to other infectious diseases such as West Nile Virus or the common cold or flu.
The shady manner in which the research was conducted also has raised suspicion, with the work not being reported until months after it had been begun and further issues such as potentially falsified ethical approval documents being provided to the hospital, Harmonicare in Shenzen where the work was conducted. The work has also not yet been published and peer-reviewed by experts in the field, a cornerstone of how factual research is conducted in science today.
So, where does He Jiankui stand amidst the global outcry raised by his work? China’s official legal stance is that the use of gene-editing on embryos older than 14 days is prohibited and that such experimentation for fertility purposes has been banned since 2003. However these rules currently have no provision for imposing penalties upon violation, which does not seem to be enough of a deterrent.
He’s work has been poorly received amongst the scientific community in China, with a panel of 120 Chinese scientists issuing a joint statement condemning He’s work and defending the work of the majority of Chinese scientists who they say “are diligent, innovative and defending the bottom line of scientific ethics.” The Southern University of Science & Technology in Shenzen where He worked have also distanced themselves from his research and last month his contract with them was terminated. He is now reportedly under investigation by China’s National Health Commission, has been ordered to cease doing science and has been placed under house arrest as of December 2018, while the investigation takes place. The local government of Guangdong Province where the experiments took place have undertaken to supervise the health of the twin girls with their identities remaining confidential.
The question that now stands is, what does the future of human genome editing lie now that this Pandora’s box has been opened? Doubtless, there are many beneficial potential uses for this technology, however in anything with great power, there is as much capacity for good as for bad. There are difficult ethical questions to be resolved around the morals of editing the DNA of future generations without their consent. In addition to the huge potential for inequality between those privileged enough to perhaps make use of such technology for physical improvement in the future, versus those who can’t. It is also up to the world’s governments to choose a stance on genome editing and how to enforce it. All in all only time will tell as we enter the genetic engineering age.