LONDON – He Jiankui has faced up to critics and defended his work in creating what are claimed to be the world's first CRISPR/Cas9 gene-edited babies.
Addressing the second International Summit on Human Gene Editing in Hong Kong Wednesday, He said he is "proud" of altering the CCR5 gene of twin girls given the pseudonyms Lulu and Nana, inserting a naturally occurring mutation that blocks infection by the HIV virus. (See story this issue.)
He also revealed that another potential pregnancy of a gene edited embryo is in its early stages and said the details of his research have been submitted to an (unnamed) peer review journal.
Following consternation at the beginning of the week when He released a video announcing the birth of Lulu and Nana, the running order of the session on Human Genome Editing was changed from that published in advance. Instead, four speakers gave their presentations and answered questions from the audience before He gave his talk separately.
One of the speakers at the session, Kathy Niakan, group leader at the Francis Crick Institute in London, who holds a U.K. license to carry out human genome editing for basic research, said He's presentation "did nothing to assuage my scientific, moral or ethical concerns about the work."
In going ahead with making a heritable gene edit in humans, He has completely pulled the rug from under the feet of the community of researchers, funding bodies and ethicists, who believed they had enforced an international moratorium against such experimentation.
Speaking at the conclusion of the session, Nobel laureate David Baltimore, who chairs the summit, said He's work did not comply with commitments made at the first gene editing summit in Washington in December 2015.
The summit organizing committee is due to make a statement about He's revelations Thursday.
Despite his apologies for the "unexpected leak of information," it is clear He orchestrated the announcement. Journalists from the Associated Press news agency had been given access in advance and He had a video in which he describes the work, prepared and ready for posting on the internet.
Niakan said there was a worrying lack of oversight or scrutiny of He's clinical plans before he started human experiments, and a complete lack of transparency throughout the process.
It addition, it is "highly troubling" that He avoided questions about approval processes and his answers on patient recruitment and consent were not reassuring.
"The team don't seem to have had adequate training on proper consent processes, and offering vulnerable patients free IVF treatment presents a clear conflict of interests," Niakan said.
Buried in the depths of the consent form He used in recruiting couples not able to conceive naturally and where the male partner had HIV, the document says those taking part will be offered IVF treatment and prenatal care up to the value of $43,000.
Lack of transparency, peer review
He's announcement of the birth of Lulu and Nana attracted huge media attention, and Helen O'Neill, program director in reproductive science and women's health at University College London, said it was hard to hear He's opening apology over the camera clicks and flashes.
"His stance was repentant, but he delivered a full and detailed outline of his preclinical results in mice, monkeys and human embryos," said O'Neill. "A somewhat unfortunate element about this, was that the preclinical studies He had carried out were extensive, but the lack of transparency – presumably in order to be the first – have meant that the motives and duplicitous nature of the work are felt to be all the more irresponsible," she said.
In addition, O'Neill noted there was shock from the audience when He revealed he personally paid for the research.
In the panel discussion after He's presentation, Matt Porteus, of the division of stem cell transplantation and regenerative medicine at Stanford University, California, and co-founder of Crispr Therapeutics Inc., challenged the Chinese scientist and former post doc researcher at Stanford on the peer review process leading up to the gene editing.
He responded that only four people had reviewed the protocol, something O'Neill described as a "shocking revelation."
Another major objection raised by panel member Robin Lovell Badge, of the Crick Institute, and others, was about the choice of CCR5 chemokine receptor modification to prevent HIV infection.
The objection is twofold: first, the function of CCR5 in the immune system is far from being fully understood, raising a clear risk that editing the gene could be unsafe. Second, it was argued there are other means of preventing HIV infection and CRISPR gene editing should only be applied to serious diseases, where no alternative treatment exists.
"Despite continued questioning as to the choice of gene, He failed to give sufficient reason for this, other than that he felt these patients' needs were a motivating factor," said O'Neill.
For Niakan, there was a failure by He to address why he went ahead despite the strong international consensus against human germline gene editing. "There is a real danger that the actions of one rogue scientist could undermine public trust in science and set back responsible research," she said. "It is impossible to overstate how irresponsible, unethical and dangerous this is."