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