A Chinese researcher claims that he helped make the world's first genetically edited babies – twin girls born this month whose DNA he said he changed with a powerful new tool capable of rewriting the very blueprint of life.
If true, it would be a profound leap of science and ethics.
A US scientist said he took part in the work in China, but this kind of genetic editing is banned in the United States because DNA changes can pass to future generations and it risks harming other genes.
Many mainstream scientists think it's too dangerous to try, and some have denounced the Chinese report as human experimentation.
The researcher, He Jiankui of Shenzhen, said he changed the embryos for seven couples during fertility treatments, with one pregnancy resulting thus far. He said his goal was not to cure or prevent an inherited disease, but to try to give away a trait that few people naturally have – the ability to resist possible future infection with HIV, the AIDS virus.
He said that the parents involved in the interview were not identified and interviewed, and he would not say where they live or where the work was done.
There is no independent confirmation of His claim, and it has not been published in a journal, where it would be vetted by other experts. He revealed Monday in Hong Kong to one of the organizers of an international conference on genetic editing that is set to begin Tuesday, and earlier in exclusive interviews with The Associated Press.
"I feel a strong responsibility that it's not just to make a first, but also make it an example," he told the AP. "Society will decide what to do next" in terms of allowing or forbidding such science.
Some scientists were astounded to hear about the claim and strongly condemned it.
It's "unconscionable … an experiment on human beings that is not morally or ethically defensible," said Dr. Kiran Musunuru, a University of Pennsylvania genetic editing expert and editor of a genetics journal.
"This is too far too early," said Dr. Eric Topol, who heads the Scripps Research Translational Institute in California. "We're dealing with the operating instructions of a human being. It's a big deal."
However, one famed geneticist, Harvard University's George Church, defended attempting genetic editing for HIV, which he called "a major and growing public health threat."
"I think this is justifiable," Church said of that goal.
In recent years, scientists have discovered a relatively easy way to edit genes, the strands of DNA that govern the body. The tool, called CRISPR-cas9, makes it possible to operate on DNA to supply the necessary gene or disable one that's causing problems.
It's only recently been tried in adults to treat deadly diseases, and the changes are limited to that person. Editing sperm, eggs or embryos is different – the changes can be inherited. In the U.S., it's not allowed except for lab research. China has outlawed human cloning but not specifically genetic editing.
He Jiankui (HEH JEE'-an-qway), who goes by "JK," studied at Rice and Stanford universities in the United States. before returning to his homeland to open a lab at the Southern University of Science and Technology of China in Shenzhen, where he also has two genetics companies.
The U.S. a scientist who worked with him on this project after He returned to China was physics and bioengineering professor Michael Deem, who was his adviser at Rice and Houston. Deem also holds what he called "a small stake" in – and is on the scientific advisory boards of – He's two companies.
The Chinese researcher said he practiced editing mice, monkey and human embryos in the lab for several years and has applied for patents on his methods.
He said he chose embryo gene editing for HIV because these infections are a big problem in China. He sought to disable a gene called CCR5 that forms a protein gateway that allows HIV, the virus that causes AIDS, to enter a cell.
All of the men in the project had HIV and all of the women did not, but the genetic editing was not aimed at preventing the small risk of transmission, He said. The fathers had their infections deeply suppressed by standard HIV drugs and there are simple ways to keep them from infecting offspring that do not involve altering the gene.
Instead, the appeal was to offer couples affected by HIV a chance to have a child that could be protected from a similar fate.
He recruited couples through a Beijing-based AIDS advocacy group called Baihualin. Its leader, known by the pseudonym "Bai Hua," told the AP that it is not uncommon for people with HIV to lose jobs or have trouble getting medical care if their infections are revealed.
Here is how He described the work:
The gene editing occurred during IVF, or lab dish fertilization. First, sperm was "washed" to separate it from the semen, the fluid where HIV can lurk. A single sperm was placed in a single egg to create an embryo. Then the gene editing tool was added.
When the embryos were 3 to 5 days old, few cells were removed and checked for editing. Couples could choose whether to use edited or unedited embryos for pregnancy attempts. In all, 16 of 22 embryos were edited, and 11 embryos were used in six implant attempts before the twin pregnancy was achieved, He said.
Tests suggest that one twin had both copies of the intended gen-altered and the other twin had just one altered, without any evidence of harm to other gene, he said. People with a single copy of the gene can still get HIV, although some very limited research suggests that their health may decline more slowly once they do.
Several scientists reviewed materials that he provided to the AP and said tests so far are not sufficient to say the editing worked or to rule out harm.
They also noted the evidence that the editing was incomplete and that at least one twin appears to be a patchwork of cells with various changes.
"It's almost like not editing at all" if only some of the cells were altered, because HIV infection can still occur, Church said.
Church and Musunuru questioned the decision to allow one of the embryos to be used in a pregnancy attempt, because Chinese researchers said they knew in advance that both copies of the intended gen did not have been changed.
"In that child, there really was almost nothing to be gained in terms of protection against HIV, and yet you're exposing that child to all unknown safety risks," Musunuru said.
The use of that embryo suggests that researchers' "main emphasis was on testing editing instead of avoiding this disease," the Church said.
Even if editing worked perfectly, people without normal CCR5 gene face higher risk of getting some other viruses, such as West Nile, and dying from the flu. Since there are many ways to prevent HIV infection and it's very treatable if it occurs, those other medical risks are a concern, Musunuru said.
There are also questions about the way He said he proceeded. He gave his official notice of his work long after he said he started it – on Nov. 8, on a Chinese registry of clinical trials.
It's unclear whether the participants fully understood the purpose and potential risks and benefits. For example, consent forms called the "AIDS vaccine development" program.
The Rice scientist, Deem, said he was present in China when potential participants gave their consent and that he "absolutely" thinks they were able to understand the risks.
Deem said he worked with He on vaccine research at Rice and considered the genetic editing similar to a vaccine.
"That might be a layman's way of describing it," he said.
Both men are physics experts with no experience running human clinical trials.
The Chinese scientist, He, said he personally made the goals clear and told participants that embryo gene editing has never been tried before and carries risks. He said he would also provide insurance cover for any children conceived through the project and plans medical follow-up until the children are 18 and longer if they agree once they are adults.
Further pregnancy attempts are on hold until the safety of this is analyzed and experts in the field weigh in, but the participants were not told beforehand that they might not have the opportunity to try what they signed for once the "first" was achieved , He acknowledged. Free fertility treatment was part of the deal they were offered.
He sought and received approval for his project from the Shenzhen Harmonicare Women's and Children's Hospital, which is not one of the four hospitals that He said provided embryos for his research or pregnancy attempts.
Some staff at some other hospitals were kept in the dark about the nature of the research, which He and Deem said were done to keep some HIV infected participants from being disclosed.
"We think this is ethical," said Lin Zhitong, a Harmonicare administrator who heads the ethics panel.
Any medical staff who handled samples that may contain HIV were aware, he said. An embryologist and He's lab, Qin Jinzhou, confirmed to the AP that he did sperm washing and injected the gene editing tool in some of the pregnancy attempts.
The study participants are not ethicists, he said, but "they are as much authority on what is right and what is wrong because it's their life on the line."
"I believe this will help families and their children," he said. If it causes unwanted side effects or harm, "I would feel the same pain as they do and it will be my own responsibility."