A Chinese scientist who claims to have changed the DNA of the twins before birth – without going through the usual scientific channels – said he was proud of his work and claimed that another woman enrolled in her trial was pregnant with a similarly modified child.
Scientist He Jiankui spoke with hundreds of colleagues and journalists Wednesday at the International Human Genome Editor Summit at the University of Hong Kong.
He told the details of the first births of a study that used gene therapy technology known as Crispr-Cas9 and was submitted to a scientific journal he did not mention. He did not even say when the results could be published.
In the planned presentation, He, associate professor at the Southern University of Science and Technology in Shenzhen, has used Crispr-Cas9 to modify the CCR5 gene in a number of IVF embryos for couples with HIV-positive fathers.
The modification was intended as a mirror natural mutation that occurs in a small percentage of humans, making them resistant to the virus. Two girls named Nana and Lulu were born with genetic changes, he said.
The 40-minute question and the respondents' answers offered the scientific forum that was being debated to publicly question the colleague who was caught up in controversial issues.
Nobel laureate David Baltimore, the summit organizer who is Professor of Emeric Biology at the California Institute of Technology, called his work irresponsible. "I think the scientific community has failed by self-regulation due to a lack of transparency," Baltimore said.
David Liu, a biologist at the Broad Institute in Cambridge, Massachusetts, called for how girls can benefit from altering their DNA. Children were not at risk of HIV death at birth and said there are many ways to avoid HIV infection later in life. "What was the medical need for these patients?" Liu asked.
In defense, he said, "I am convinced that not only for this case but also for millions of children, they need this protection because the HIV vaccine is not available, and I feel proud of that."
Matthew Porteus, a professor of pediatrics at Stanford University, said, "He's in danger of becoming a pariah." Scientists on their research plans spoke a few years ago with many colleagues to get feedback before they went. "If you begin to devote yourself to the scientific process, it will be even worse and worse," Porteus added.
At the summit, the slides showed an audience of scientists who expressed concern that they could harm their subjects and jeopardize genetic research.
The scientist, however, said he wanted to prevent her inheritance from HIV, because so many children were affected by a virus in China. Eight couples agreed to attend a study, although somebody dropped it. With each of them, the father was HIV-positive while the woman was free of virus.
He told the audience that he had worked on 31 eggs and implanted two changed embryos into one woman. One child had only one copy of the CCR5 gene, which was not enough to transfer HIV resistance. The health of both children will be monitored for the next 18 years.
The gene modification work began three years ago, partially paid to He, who consulted with his plans, with just a few colleagues.
In the UK and many other countries it is forbidden to create genetically modified children and field scientists have come to a broad consensus that it would be silly unethical to try. Cutting the genome is not considered safe and any genetic modification – whether beneficial or unintentional – affects not only the child but also children and future generations.
"It is impossible to overcome what is currently an irresponsible, unethical and dangerous situation," said Kathy Niakan, a scientist at the Francis Crick Institute in London who was present at the summit. "Before human experiments began and a complete lack of transparency throughout the process, there was a worrying lack of supervision or control of his clinical plans.
"I found it very worrying to avoid approving approval issues and that his responses to recruitment and patient consent did not satisfy me." The team does not seem to have sufficient training to properly approve the process, but the provision of vulnerable IVF-free patients is clear conflict of interest. "
On Tuesday, it was announced that his work was being investigated by Chinese officials and his university in Shenzhen.
Unclear responses to the summit raised other audience questions. Did he know enough technology to make sure that children are healthy or could contract other deadly viruses? He insisted he knew enough.
"How do you see your responsibility towards these children?" Eben Kirksey, professor of anthropology, asked Deakin University in Victoria, Australia. He said he would be provided with child health care but did not provide any details.
Missing information disappointed in the audience. "This is the red line," one of the conference participants said. "Why did you decide to go beyond it and drive it secretly?"
Robin Lovell-Badge, a geneticist at the Francis Crick Institute in London, said he was misleading. "He has made some bad decisions, I am very critical when I call this scientific breakthrough because he is wrong all the time."
Lovell-Badge said he had a tendency to believe he had changed his children's DNA but said the scientist must prove it. The only way to persuade the world would be if an independent, qualified lab tested DNA from parents and two children to show that these genes had been modified. "Nothing that has been shown to me says it's fake, but the evidence I've seen is still not good enough," he added.