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Hope For The Future
Nathan Davies ...it was never our intention to alter the genetic code of this,
or any other individual.

At approximately 6:43 p.m. on the 23rd of June 2017 Hope was brought into this world, kicking and screaming. Weighing in at a little over 3.5kg she was pronounced by doctors to be a perfectly healthy baby. Now, almost four years later, the ethics of her conception and perhaps even her right to exist are now being brought into question because of that very fact.

Neither of Hope's parents are what coming generations, are likely to consider to be normal, healthy human beings, despite having nothing actively wrong with them. Rather, they carry, dormant within their genes, codes for diseases or variations that could seriously affect the health of their children. Her mother, for example, has the potential to pass on cystic fibrosis (which can cause a lethal build-up of mucus in the lungs and gut) and her father is a third generation asthmatic who was also found to be a carrier of spinal muscular atrophy during the tests that led to Hope's conception. Like many other people who have inheritable disorders they sought IVF treatment that would screen a selection of embryos for the genetic faults, allowing them to effectively choose their child on the likelihood that it would not inherit them. This is all well and good, and has been happening under strict regulation since the 1990's; what makes Hope's case different is that both parents contributed defective genetic material, thus making it virtually impossible for doctors to find an embryo that promised to resist both cystic fibrosis and SMA. So, for the first time, they actually re-sequenced Hope's genes using her mother's as a template. By preventing the genes responsible for cystic fibrosis from grouping, it is hoped that, although she will carry the disorder, she will not actually suffer from it. The question now is; is this a step too far?

Not according to Doctor Russell and the team at the clinic responsible for the embryo testing that ultimately led to Hope's birth. To them the 'fixing' of the human genome is a natural extension of the predictive and preventative screenings already available to those who use fertility treatments to conquer their own genetic disadvantages. "It's all part and parcel of the same thing; like using the same text book, in this case the map of the human genome, in a slightly different way."

"You have to understand," a spokesman for the clinic told the press as it was temporarily closed, pending investigation, "that it was never our intention to alter the genetic code of this, or any other individual. Pre-implantation Genetic Diagnosis [PGD] as a form of IVF treatment is about creating choices that you might not have otherwise. In regard to genetic disorders, it is a process by which, over the last ten or so years in particular, we have been increasingly able to screen them out, leaving more and more children free from the terrible inheritances that nature could almost assure them.

"Unfortunately, in Hope's case we were not able to do that. Our choices were limited by the presence of a second disorder, so we had to trade one off against the other. Considering what we had in terms of knowledge and technology, we made the best choice we could."
In closing he added that, "This was not done to satisfy some whim or even scientific curiosity, but to protect a life from a debilitating and potentially deadly condition. It is what we do every day, just reached by slightly different means. We tried something new to get the best, most viable result; surely that cannot be wrong."

Others don't necessarily see it like that. Since the nature of Hope's conception was made public, everyone has had something to say about it, on everything from the bare science to the social and political ramifications of tampering with human gene sequences. However, the most hotly debated issue is the ethics of this practice, and how and why it was ever allowed to happen.

Among the most extreme elements outraged by all of this is, perhaps unsurprisingly, the so-called pro-life group 'One Way'. Founded in 2008 by then mother of three Irene Roberts, it picks up where the Catholic Church left off with abortions. Its members believe that all life is sacred from the moment of conception and should be cherished rather than destroyed. However, this apparently does not include the form of genetically modified life as they see Hope to be. To Mrs. Roberts this young girl, not yet four years old, is "a walking crime against God". Not only was she the one embryo selected at the expense of what 'One Way' perceive to be countless other lives, but she was also changed from the way "God intended". And that is not the least of it. According to 'One Way' demonstrators present at the closing of the fertility clinic at the centre of this controversy, what really worries them is that Hope will simply be the first of many children to undergo what medical officials are now calling Pre-implantation Genetic Correction (or PGC for short). They say that the simple fact that she survived the procedure will be enough to encourage other prospective parents to try for similar results, thus leading to the creation and destruction of far more 'unwanted' embryos.

This theory, however, is easily dismissed by members of the International Genetics Commission, the regulatory body appointed to monitor, and where necessary, investigate medical projects involving genome technology. "It could never happen. Each individual PGD test has to be assessed by the national Human Fertilisation and Embryology Authority on medical grounds before it is licensed, and the jury is still out on whether PGC is an acceptable form of treatment. Should our colleagues on the board of inquiry [for the Hope case] choose to endorse this procedure then it will be subject to a similarly strict licensing agreement and other forms of regulation to make sure that it is not abused. The scenario in which everyone can pick their favourite embryo and then improve upon it is pure alarmist fantasy."

Adamant that genetic re-sequencing should not and could not become a way to realise personal or social preferences in an unborn child, the IGC has begun to focus more on the apparent medical breakthrough that Hope's birth represents. The question they are asking themselves now is, what, in terms of practical applications, does it actually mean?
"Theoretically," according to one private researcher into the field of Genomics (the study of genomes and the manipulation of the genes contained therein) who asked not to identified, "PGC, even as it stands today, will allow doctors and scientists to effectively 'de-activate' certain genetic traits by prying apart the gene clusters responsible for them. Take breast cancer, for example. We already know, or think we know of all of the genes that predispose a person towards manifesting this condition, and have done for some time. If we are able to ensure that they do not group or interact by fixing them to certain points away from one another, we should, as in Hope's case with cystic fibrosis, prevent the condition from occurring. This could be much larger than just a way to protect individuals against their genetically disadvantaged inheritance; it has the potential to prevent common ailments that are derived from genetic variations."

But there are problems with taking genetic correction down this path. The moment that it branches outside of family history we run into the same sort of ethical dilemmas as PGD did in Britain over the right to test for Downs syndrome. Both times that was presented as an issue for debate by the ethics committee of the Human Fertilisation and Embryology Authority, once in late 2001 and then again in 2010, it was decided not to allow it on the grounds that its implications reached beyond the confines of medical practice. Treated as a disability Downs is supported by a number of social and political lobby groups which have time and again argued the case for the sufferers quality of life. The suggestion here is not that conditions such as cancer are similarly supported, for that would be absurd, but rather that there will undoubtedly be resistance (though mostly philosophical) to a procedure that attempts to solve a potential problem before the affected party has had a chance to deal with it.

Of similar concern is the following question. If PGC does have a use in treating a broader range of disorders, who qualifies for it and how would they know; after all, theoretically, they will not have been born. To take the example of Downs once again, older women are advised to be tested for it once the pregnancy has actually begun, because they are statistically more likely to have a child with the disability. They are also given the option of terminating the pregnancy if the result is positive. However, there is, as far as we know, often little or no identifiable correlation between the age of the mother and many of the other disorders, genetic in origin, that our doctors still have to help cure. It is likely that if we wanted to 'turn off' things like cancers, diabetes and asthma, all our prospective children would have to be screened and corrected, and that brings us back to the concerns of the 'One Way' supporters as well as a possible end to natural conception. But this is blowing things out of proportion.

According to members of the team behind Hope's conception "It would be a big mistake to think that re-sequencing of this kind is going to radically change our approach to tackling genetic disorders. It alone cannot eliminate them, rather it can only make those that we can recognise remain dormant, and only then if we have a template for their in-active state. It certainly has potential for the future, when it might, for example, be used to help control artificial combinations of genes, but for now there are no plans to develop it further."
While this admission has helped assuage some of the fears surrounding the advent of this new procedure, the IGC investigators still have reservations about the future of gene fixing. This is due, in part, to the continued development of associated technologies, which, when combined with a process like PGC, could advance our means to alter the genes of our, or any other species, far beyond our understanding of them.

At the very bottom end of this scale is the aforementioned suggestion that 'fixing' might be used as a method to control the structure of artificially combined gene sequences. This would actually be a great benefit to both the medical industry and ecological conservation, as it could potentially be used to create self-terminating organic tools, tailor made for specific tasks. For example, it could perhaps prevent an oil-eating microbe from subdividing so that, when deployed to clear up a spill, it cannot escape into the environment. A number of countries in northern Europe have been trying to develop controllable waste eaters for several years now; this might be the breakthrough they need, and the IGC are giving it serious thought. However, if we can modify or even create simple organisms, what's to stop doctors and scientists from doing the same with more complex ones?

This in turn leads us to the upper end of the scale and the daunting possible result of further combining gene fixing procedures with advanced genome research. Denis Katz of the University of Amsterdam and representative of the second multi-national Human Genome Project (established to identify what each group of genes actually does) claims, "It may sound like science-fiction, but if PGC will do all that it promises, and we can deliver the goods, then we could be looking at being able to design a real, live, human being in significantly less than twenty years."

The International Genetics Commission is still undecided about whether this is such a good thing. "In terms of pure science it is undoubtedly amazing, but ethically it is less than sound," said the inquiry spokesperson. When asked what this meant for Hope and the genetic correction procedure which helped her into being, they would only say that, "we would prefer it if the technology could prove itself diverse and adaptable without relying on even more controversial speculation."

This sounds like a bad sign for the proliferation of PGC and seems to suggest that much of the Commissions research into the project's applications has been conducted in America, where a number of large commercial interests are claiming that, on its own, it is in fact a step backward in terms of the genetic sciences.

According to Dr. Kelly Gilman, spokesperson for genome pioneers Celera Genomics, "Pre-implantation Genetic Correction is an evolutionary dead end. As it stands, it has little or no long-term practical usage other than to overcome the very rare complexities caused by two variant carriers trying to have a baby. Considering that this one success is the only attempt to do this to have come to light, and that thanks to PGD such cases are getting fewer, I have to say that I cannot see a future for this service."

Relative newcomers, Purity, have gone even further. Although they admit to seeing potential in the technology, they are suggesting that Hope herself is a sort of 'throw back', and will be viewed with some contempt as a genetic anomaly by the time she reaches adulthood. "Whereas other children of her age, either born healthy by natural means, or selected by PGD, will be mostly free of serious inheritable conditions, Hope will still carry within her the information for cystic fibrosis. Rather than eliminating this potentially life-threatening disease, the doctors who contributed to her conception have ensured its survival by creating a carrier. It would have been more responsible to have substituted one of the parental contributions, say the father's sperm, for that of a healthy donor, to ensure that neither of the disorders were carried forward."

And it's not just the big genome orientated pharmaceutical companies that are taking this position either. National governments, such as the new Spanish administration, led by Jorge Glottis, are now talking about banning the procedure should it be accepted by the IGC. "We are concerned very much with the idea of letting family diseases persist," said a party spokesman from Madrid. "Why should we wish it? Why should we go to such new and great lengths to maintain them if what methods we already have, and tolerate, can get rid of them?"

Because, as a number of leading embryologists and genome researchers are keen to point out, PGC represents a range of choices that people should be made more aware of. Primarily, as we have seen in Hope's case, it offers genetically disadvantaged would-be parents a way to have their own healthy children. Secondly, if the technology is endorsed, it could not only lead to a way of controlling the creation of artificial genomes, but also the development of gene-specific treatments that could potentially 'de-activate' manifested versions of certain disorders. Thirdly, if taken in the context of dealing with a single inheritable disorder, it can be far less wasteful than the PGD method. If a couple only wished to ensure that the condition one of them has remains dormant within their child (and therefore unable to harm them), then they should only need to harvest the one embryo for 'fixing'; thus making the large selection of rejected embryos unnecessary. This being the case, it should seem odd that a country like Spain, so long associated with conservative beliefs and the Catholic church should be opposed to it.

However, according to the legal team appointed to represent the interests of both the PGC pioneers and Hope's family, ethics and practical benefits are the last things on the minds of most of the people set against this new process. "No matter who they are and regardless of what they claim their objections on the subject to be, it all boils down to two things. One is money, or to be more specific, the rights to profit from the process. Many of the large and influential multinationals are trying to discredit the idea of gene 'fixing' with scare-mongering and supposedly informed statements about the limited uses for the technology; in at least three cases, these same companies have, through subsidiaries or third parties, made our clients offers to buy that same technology from them. They cannot stand the fact that someone else came up with this stuff. Even if it's not going to be used, they want to own it.

"The other major issue here is racial elitism, or racial purity. Because we have come so far in terms of breeding out most of the known genetic disorders, many people, including several important companies and a number of governments, believe that investing in a process that carries such disorders forward is not only wasteful but also to the detriment of the human race. With a total disregard for the Genetic Discrimination Act of 2009, these people are trying to force the elimination of others, like Hope, because they remain a genetically disadvantaged minority."

Hope herself, at least, cannot be eliminated; she's already been born and no ruling can change that fact. However, as long as the debate over the practice of gene 'fixing' continues she will never truly be safe. Despite best efforts to maintain the privacy and relative anonymity of the family, there have been threats of violence towards her. "Most of the letters and messages come to our offices," a legal spokesman for the family told the press soon after the inquiry into Hope's conception began, "but some have managed to get through to the house. We are expecting more while the investigation continues and cannot afford not to take them seriously. If you don't believe me take a look at what demonstrators have done to genetically modified crops and animals"

Although Hope is most likely oblivious to the controversy and potential danger that now surround her, both of her parents have been understandably upset by this and are worried for their daughter's safety. However, should she survive the next few hectic months she should still have the whole of her life ahead of her. Doctors associated with the PGC laboratory and the Fertility and Embryology clinic involved with her conception have been keeping a close eye on her since her birth, and are now convinced that the re-sequencing was a success. "She's had almost four years of growth, and everything is still in order," reassured Dr. Russell. "The older she gets, the less chance she would have of developing cystic fibrosis anyway. We are all very pleased with the result so far, but I for one will rest easier once she's through the upheavals of puberty."

When asked whether there would be more children like Hope he said," I don't really know. It isn't up to us, and the IGC still hasn't made up its mind, although they seem to be approaching the subject with some rather negative preconceptions. However, I don't see why there shouldn't be more if that is what people want, or can at least accept. Hope is living proof that we can actually do some good with PGC, and what most people fail to realise, at the moment it is perfectly legal to do. Because nothing is added to or taken away from the pre-existing genetic structure of the individual, it remains within the parameters of the laws passed in 2006 on genetic manipulation. Should the IGC or anyone else wish to ban the procedure then those laws will have to be amended, but by doing that they will effectively be telling the scientific community to stop working with human genome, and I can't see that happening."

In closing he added, "I really don't know whether we'll be seeing more of PGC in the future, but I am hopeful."

© Nathan Davies

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