Last year Chinese scientist He Jiankui announced he had created the world's first genetically modified human children. Now he's going to prison for it. The Nanshan District People’s Court of Shenzhen, China has sentenced the disgraced scientist to three years behind bars, fined him three million yuan ($430,000) and banned him from ever working in reproductive technologies ever again — all for his role in what was determined to be “illegal medical practice," according to Chinese state media.
He and two colleagues — both of whom received lesser sentences — shocked the global scientific community late last year when they announced that two babies were born with altered DNA. The experiment, which had been kept almost entirely under wraps, involved He and two other doctors recruiting HIV-positive couples in order to modify the genetic makeup of the child in an attempt to make them immune to the HIV virus. He reportedly used the CRISPR-cas9 gene-editing tool to essentially the CCR5 gene, which has been linked to HIV infections.
He's work may give the appearance of a breakthrough, and on one hand, it is: twins named Lulu and Nana born to the same mother and a third child born to another woman are the first known children to be born of genetically modified embryos. But He's work has not been praised. Instead, he has been widely condemned by both his own government and the scientific community at large for behaving recklessly and pushing well beyond the agreed-upon limits to genetic modification.
From the letter of the law in China, it is clear that He overstepped his bounds. Evidence presented against him at trial showed that He forged ethical review certificates so that he could continue moving forward with the experiment without interruption. China also has fairly strict regulations that require national approval before carrying out any "high-risk" gene editing procedures. He was found in violation of those regulations.
But more so than that, He's entire experiment was dangerous to all those involved — especially the children born out of it. He has been criticized for taking basically none of the steps that would typically go into the scientific process. He operated in complete secrecy outside of his two colleagues and the eight volunteers who participated in the experiment. While the work went on from March 2017 to November 2018, He and his fellow scientists did not provide any documentation of the work published in any peer-reviewed publication so that others could check the work that they did and confirm the authenticity of their claims — nor could anyone recreate the experiment to ensure its quality, should they want to do so. He reportedly provided no evidence of his work, simply announcing the apparent achievement to the press and releasing a video detailing his claims.
Not only did He fail to provide the appropriate and meticulous documentation that should accompany a scientific claim — particularly one of such magnitude — but he also went forward with a largely untested method of genetic modification. He reportedly used the CRISPR-cas9 gene-editing tool, which is a wildly powerful piece of technology that basically acts as genetic scissors, letting scientists snip out individual genes. While the technology presents great promise in potentially removing parts of the genetic code that may expose us to deadly diseases, these processes are typically not as simple as snipping a single gene and calling it a day. In this case, He removed the CCR5 gene, which is linked to HIV infections. But removing it does not guarantee that the children will be granted immunity from the virus entirely — and the CCR5 gene serves other purposes. A 2015 study found that a deficiency of CCR5 is linked to increased mortality rates from the influenza virus. Another study, published in 2006, found that the lack of CCR5 gene puts people at increased risk of contracting the West Nile virus. It's possible that by removing the gene entirely from the children, He may have protected them from HIV while exposing them to other significant health risks.
On top of that, it's still unclear how genetic modification like this affects a person over time — and how that modification may be passed on to next generations. The tool that He used to make his genetic edits are done on germline cells, which are cells that form the egg, sperm and fertilized egg. In other words, the modified DNA that made up the supposedly HIV-immune children will be passed on to any children they have — and there is no telling exactly what will happen because of that. It isn't clear if passing down modified genes is safe or if there are any unexpected effects that will arise from the process. It's likely that it won't even be clear if the children born out of the modified embryos will be in good health by the time they grow to maturity, let alone how any future generations may be affected.
Everything that He is reported to have done — from recruiting volunteers and hiding his experiment to placing the modified embryos inside the women's wombs to allowing the children to be born without ever informing anyone of what was happening — is in direct violation of the ethics of gene editing, which is already a fraught topic within the scientific community. Gene editing tools like CRISPR are extraordinarily powerful, but are also relatively blunt tools rather than precise ones — and we're nowhere near the point where it's safe or ethical to bring a child of a modified embryo to birth. In the United States, scientists are allowed to modify embryos with gene-editing tools, but it is required that those embryos be destroyed within just a few days. Most countries, including the U.S., have completely banned genetically modified babies for fear of the unknown repercussions and long-term effects of the procedures.
Genetic modification will almost certainly be a part of our world going forward. Tools with the ability to essentially remove deadly infectious diseases from the gene pool are too tempting for scientists to not experiment with — though some have called for a global moratorium on any gene editing until more is known about the procedures and standards can be put into place. But with the tools for gene-editing easily accessible and in some cases even commercially available, it is possible that we will see more under-the-radar experiments like this that may not come to our attention until there is fallout from them. Human genetics are complex and undoubtedly require more caution than snipping away a gene and seeing what happens.