Late in 2018 a young scientist, speaking at The Second International Summit on Human Genome Editing in Hong Kong, announced that he had ‘successfully’ manipulated the human genome resulting in the birth of twin girls who, he believed, may be resistant to the HIV virus which had infected their father.
The researcher initially said that his sole motive was to provide protection against the HIV virus; however, he later stated he also ‘wanted to be the first’. The reaction may not have been quite what he anticipated. His own university disowned him, his country’s vice minister for science and technology suggested he had breached regulations governing genetic research, his country’s National Health Commission ordered an immediate investigation, and ethicists world-wide were aghast.
Gene editing tools, such as the one used in this case, are regularly used by researchers in the hope of finding genetic fixes for disease, but, in these cases, the genetically altered cells stay in the individual’s body, whereas, when gene editing is done in a gamete or embryo, it changes every cell in the body, including sperm and oocytes that would pass these modifications on to future generations. The consequences of this are unknown, the ethics questionable at best. In this case, the gene manipulated, CCR5, is important to the functioning of the immune system and its blocking may well expose future carriers of this mutation to undesirable health outcomes quite apart from HIV.
A simple example of this potential for both benefit and harm is found in the first natural genetic mutation ever identified. Sickle cell anemia is a blood disorder in which red cells reveal an abnormal crescent or sickle shape. This is due to a single mutation of the HBB gene which codes for the beta chain of hemoglobin and results in the production of hemoglobin S. Individuals who are homozygous for this condition suffer significant anemia, episodes of chronic pain, increased risks of thrombosis and a shortened life expectancy. On the other hand, individuals who are heterozygous are at a reduced risk of malaria, a great boon if you live in a region where this disease is highly prevalent but small comfort to those afflicted and living elsewhere. When this mutation was first identified, those with sickle cell disease tended to live mostly in malaria-prevalent areas but, with modern migration, the mutation may now be found almost anywhere on our planet. Even nature can get it wrong sometimes.
To think that this young researcher acted alone is naïve. Gene manipulation of embryos has occurred elsewhere in reputable institutions, but the altered embryos were not implanted. We know this because the results were reported in the scientific literature. We also know that this young researcher obtained his higher degrees in well-regarded institutes of higher learning far from his own land. We do not know to what, if any, extent his mentors assisted him in his current endeavors because, at the time of presentation, nothing had been published. One can only wait and wonder whether the genie really is out of the bottle.
Of course, what I have just related to you may not even be accurate. My sources have been the press and the medical media. As I write this, there is no shortage of critics, no shortage of condemnation and no one prepared to endorse this researcher’s actions, let alone suggest their collaboration.
Whatever we may think of the quality of the science in this report, we may be sure of one thing: the process was entirely wrong. We do not know if this research was subject to appropriate ethics evaluation prior to commencement. We do not know if he modelled for long-term outcomes, we do not know, in detail, the techniques he used, we do not know how many embryos from how many different families were involved (rumor suggests eight), we do not know how many survived and, of course, we do not know short-, let alone long-term outcomes. We know so little because nothing is published.
This story highlights just how important it is that all of us, scientists, researchers and clinicians, maintain the highest of ethical standards in our daily practice, that we strive for the common good and that all our research, regardless of the outcome, is published in peer-reviewed journals where it can be publicly scrutinized and shared.
The same is true of lectures given at major scientific meetings. The International Menopause Society asks all speakers at its scientific congresses to declare publicly any possible conflicts of interests and also to ensure all information delivered in a presentation is appropriately referenced. In ‘real time’ we can tell how difficult this can be for audiences to follow, as we see people leaping to their feet to take photos of various aspects of a presentation, even when admonished not to do so.
Publication of presentations at scientific meetings is, like the publication of original research and reviews, critically important to the proper progress of science, and it gives me great pleasure to welcome you to this issue of Climacteric which contains our usual selection of exciting new research publications but also selected peer-reviewed papers from the majority of speakers who delivered plenary and symposium lectures at the IMS 16th World Congress on Menopause, held in Vancouver in June 2018. Further papers will be published in our April 2019 issue.
There are, you may be relieved to know, no papers here on manipulation of the human genome but there are papers covering almost all aspects of midlife women’s health and post-reproductive life. Each of these papers represents cutting-edge science appropriately referenced and is now available for your examination.
Conflict of interest
The author reports no conflict of interest.
Source of funding
Nil.