By Elton Gomes
Beijing has ordered a probe into claims of a Chinese scientist after he said that he had created the world’s first genetically edited babies — a move that has sent Chinese scietific and medical community into a tizzy, but could arguably be a path-breaking move in the field of medicine.
In a video posted on YouTube, Professor He Jiankui said that the two twin girls, named Lulu and Nana, were born a few weeks ago. He said that he had altered their DNA to prevent them from contracting HIV. These unconfirmed claims have led to heated ethical debates in the scientific community about the implementation of the process as an assisted reproductive technology (ART).
In a statement released on Monday, China’s National Health Commission (NHC) said that it had “immediately requested the Guangdong Provincial Health Commission to seriously investigate and verify the claims in the reports”. Citing “people’s health and scientific principles”, the NHC further said that it would “follow the matter closely and make public the investigation results in a timely manner”. Altering the genes of human embryos is not against the law in China, though human cloning is.
In addition, a group of more than 40 lawyers have urged authorities to investigate He for possible violations of the law and called on the health department to protect the twin girls.
He holds an associate professorship at the Southern University of Science and Technology in the southern Chinese city of Shenzhen. However, the university said that it was unaware of the research project and that He had been on unpaid leave since February 2018. The university called He’s research a “serious violation of academic ethics and standards“.
He defended what he claimed to have achieved, and said that he had performed gene editing to help protect the babies from future HIV infection. .
He’s credibility is also scanner because he announced having implemented such a contentious scientific technique on a platform like YouTube as opposed to a formal academic seminar, or in an academic journal. In the process, he circumvented all avenues where his research could have been assessed, investigated, and vetted by his peers before it was implemented.
He Jiankui claims to have created world’s first gene-edited babies
As per an Associated Press report from November 26, He claimed that he had helped in creating the world’s first genetically edited babies. He further said that he had altered their DNA with a powerful new tool.
He said he had altered embryos for seven couples during fertility treatments, but it has resulted in only one pregnancy so far. He said his goal was not to cure or prevent an inherited disease, but to try to inculcate an ability to resist a potential HIV infection in the future — an ability that a few people naturally have.
He said that the parents involved in the research declined to be identified or interviewed, and he would not state where they live or where he conducted the research. Moreover, there has been no independent confirmation of He’s claims.
He’s research has not been published in a journal, where it could be assessed by other experts. He revealed it only on Monday in Hong Kong to one of the organisers of an international conference on gene editing, which was to happen on Tuesday, and 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 Associated Press. He said, “Society will decide what to do next” in terms of whether gene editing would be permitted or disallowed.
What was the procedure?
The Chinese scientist said he had been practicing editing mice, monkey, and human embryos in the lab for several years and has applied for patents on his methods.
He chose embryo gene editing for HIV since these infections seem to be a huge problem in China. He sought to disable a gene called CCR5, which forms a protein doorway that allows the HIV virus to enter a cell. He basically disabled a gene that gave this access to the HIV virus.
All of the men in the project had HIV and all of the women did not. He said that the gene editing process was not to prevent the risk of virus transmission. It was instead done to give couples affected by HIV a chance to have a child that might be protected from the virus.
The gene editing occurred during IVF (in vitro fertilisation), or lab dish fertilisation. First, sperm was “washed” to separate it from semen, which is the fluid where the HIV virus can be present. A single sperm was placed into a single egg to create an embryo. Then, the gene editing tool was added.
When the embryos were three to five days old, a few cells were removed and checked for editing. 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 that all couples were given the choice whether to use edited or unedited embryos for pregnancy attempts.
Did it work?
Tests suggested that one twin had both copies of the intended gene altered. The other twin had only one altered, and there was no evidence of harm to other genes, He said.
Several scientists, who reviewed materials that He provided to the AP, said that the tests were inconclusive. The scientists said that the tests were insufficient to determine if gene editing had worked or if the babies were still in danger.
They also noted evidence that the editing was incomplete, and that at least one twin appears to have a patchwork of cells with various changes.
What exactly is genome editing?
Genome editing (also called gene editing) is a group of technologies that allow scientists to change an organism’s DNA. These technologies allow genetic material to be added, removed, or altered at particular locations within a gene.
Several approaches to genome editing have been developed. A recent one is known as CRISPR-Cas9, which stands for clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9.
Genome editing could be used in the prevention and treatment of human diseases. Currently, most research on genome editing is done using cells and animal models. With a focus on understanding diseases better, scientists are still working to determine whether such an approach is safe and effective for use in people.
How ethical was He’s move?
Although He’s alteration of the embryos “will prevent HIV infection”, a problem could arise since the deleted gene, called CCR5, “has many more functions than just aiding HIV infection,” Mazhar Adli, a geneticist at the University of Virginia School of Medicine told Live Science.
Furthermore, genes don’t exist in isolation, and they are constantly interacting with other genes – altering one gene could have a major impact on the organism. “Deleting a single gene may not only alter how other genes are going to function but also may alter the overall behavior of the cell and the phenotype of [the] organism,” Adli said. A phenotype is a distinctly observable characteristic, such as brown eyes, that someone has based on their genotype, or the genes, that code for it.
“One has to use this technique very judiciously, because it is associated with many problems,” said Dr. Avner Hershlag, the chief of Northwell Health Fertility in Manhasset, New York.
Altering one gene could have unintended, “off-target” effects in other areas within the genome. However, it is unlikely that scientists could realise the presence of such off-target changes, because they may not become apparent until the baby is born, or even later in life, Hershlag said, as per the Live Science report.
Hershlag added that gene editing could lead to a risk of something called mosaicism. Normally, cells in the body carry the same identical set of genes. Mosaicism is a scenario wherein only some cells carry a genetic change because of gene editing. This is something that, in and of itself, could lead to disease, Hershlag said.
Several condemn He’s research
A group of 122 Chinese scientists issued a statement calling He’s actions “crazy” and his claims “a huge blow to the global reputation and development of Chinese science”. And this is just one example of the substantial backlash He has faced – both from the general public as well as from academicians.
“It’s really pouring fuel on the fires of controversy,” said Sarah Chan, director of the Mason Institute for Medicine, Life Sciences and the Law at the University of Edinburgh, Bloomberg reported. Chan added, “It’s going to polarise people, for people who are perhaps skeptical about the science or worried about our ability to regulate it properly.”
Cai Jiangnan, a board member of Harmonicare Medical Holdings Ltd. said the Harmonicare hospital is now organising a “crisis response” to the news in an attempt to verify what happened. “I think it needs to get approval from the government,” he said adding, “This kind of big thing, I don’t think any hospital would do this ahead of time without getting any government approval,” as per the Bloomberg report.
Joyce Harper, a professor in genetics and human embryology at the Institute for Women’s Health at University College London, described the research as “premature, dangerous and irresponsible,” calling for public debate and legislation.
“Before this procedure comes anywhere near clinical practice, we need years of work to show that meddling with the genome of the embryo is not going to cause harm to the future person,” Harper said in a statement.
Elton Gomes is a staff writer at Qrius
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