The show goes on: Deafhood and Genetics – Part 1

After a successful conference on Saturday 10th November, ‘Sleepwalking into Eugenics?’ and the end of our Deafhood and Genetics project, the time feels right to try and pull a few things together.[1] [3] There have been two reports recently in the news regarding genetic experiments on mice and gerbils, both of which have been discussed in the Deaf community and via the news blog The Limping Chicken.

One of the struggles we have faced these last two years is how to share information that is coming at us like one tidal wave after another, and just as I’m about to type out something, it becomes dated.

A good example is when the project began, we learn (thanks to Anna Middleton) that a test had been developed to screen for 437 genes responsible for 448 childhood diseases. Several deafness conditions were amongst those screened, including connexin 26 and pendred syndrome. Tests to screen for several conditions would be publicly available by early 2011.  Soon after, hundreds of thousands of dollars were being pumped into a test to screen for 595 conditions, and in October 2012 scientists are reported to be confident that in the year 2013 it will be possible to test for 3,500: that is based on a test carried out on just four babies (three tests were successful). The current cost of the test at the time of writing is $13,500 taking 50 hours to process each test, but there are efforts to try to get these costs and time turn-around reduced.

There are now available, online, tests for 100 conditions by Counsyl, 160 by GenPath, and no doubt several more. There were reports that a test is being developed to screen for 66 deafness related genes using ‘next generation sequencing‘, which it is claimed can test these for less than $500 per sample (as opposed to costing $75,000 using Sanger sequencing). Finally, this very week, December 3rd 2012, there is a further test being developed for the market next year, a test which enables a person to find out exactly what gene made them deaf.

Let’s take a wider look at some of the tests. In one such test, for example, for $549 you can do a test for conditions such as: the tendency to develop freckles, earwax type, the secret of Viagra, restless leg syndrome, and eye colour. Tests are already available for depression, dyslexia, and bipolar disorder, along with far more severe conditions. It is hard to imagine a world of people without these and other ‘disabling’ conditions, and all the well-known and renown people with these who have made such invaluable contributions to society.

A report in New Scientist in 2006 found that 40% of fertility clinics in the USA were allowing parents to choose the sex of their child using Pre-implantation Genetic Diagnosis (PGD), but the rules are stricter in the UK, where sex-selection is banned (unless the birth of a child with a certain gender would lead to a serious illness). To carry out screenings in the UK requires a license sanctioned by the Human Fertilisation Embryology Authority (not to be confused with the Act of the same initials). The controls are a bit stricter, but over 200 conditions are already allowed for, with further ones pending.

When I scoured the HFEA website, initially I didn’t notice any deafness related conditions that could be tested.  But as Alison Bryan helpfully pointed out, the HFEA does allow this. There are two on that list I had somehow missed, the first is ‘Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness’. Well, I’d like to hope I’d be forgiven for missing that one – having looked it up though, I realised that the deafness aspect is combined with something a bit more serious, that sometimes results in a short death of a baby or child. The next one is less severe and is called ‘Sensorineural deafness – autosomal recessive non-syndromic’, and is one I was made aware of a couple of years ago by Alison.

However, it does not detract from the key point I was making in my presentation.  These licenses have to be applied for, and genetic scientists and clinics who propose these and try to get these approved play politics to do so.  This politics entails a public relations drive to try to obtain large sums of research funding. For example, Deafness Research UK, while not receiving government funding, has paid out £10m since 1985 to research on deafness, and has reported to be ‘excited’ about genetic developments. Action on Hearing Loss is similarly excited, and have their own biomedical section that fund researchers worldwide.  A cursory glance at AoHL’s documents, for example, elaborates on the problems deaf people face to try to justify why it needs a large input  of research funding. Here is an example of political posturing of a very public and overt kind:

“Hearing loss is a significant social burden: Hearing loss makes communication with friends and family difficult, often leading to social exclusion, loneliness and depression, and reduced physical well-being… Children are also affected by deafness. In the UK, about 840 children are born every year with a hearing loss. Communication difficulties can adversely affect education and future employment.” [2]

Statements of this kind may not be defined as political, but as the quest of science to find and discover cures and treatments.  This ignores the argument that science itself is not a neutral or value-free practice: some argue that scientific knowledge is social and culturally constructed (which requires a separate article).  The people who carry the political label are the ‘Culturally Deaf’ ‘demanding’ ‘Deaf babies’, a ‘sick’ practice, ‘immoral’, ‘daft’, and akin to ‘child abuse’.  Not my words, but those of journalists and politicians, which can be found on my powerpoint presentation at the Sleepwalking Conference.

Scientific developments do get reported by the media, but the news is selective, sensationalised and overplays their importance…at least for the time being anyway. A key part of the research project was to analyse the media and how it reported on clause 14.4.9 of the 2008 Act (now entitled s.14.4.9). When we achieved our funding from the Leverhulme Trust, we had a very strong desire to take this path, for not only was the subject still quite raw, but in-depth analysis of the media in relation to Deaf issues is rare in Deaf studies.  Given the depth of feeling within the community with regards to how the media reports on Deaf research and Deaf Culture, the media reporting on opposition to s.14.4.9 seemed like an ideal opportunity to analyse.  The media is very much a part of a system that manufactures a dominant perspective about ‘deafness’. I am not suggesting they do so deliberately, but it is a two way process. Science, generally, NEEDS the media (to legitimise it’s practices and justify the large sums of funding it receives annually) and the media needs science to have media stories to sell it’s newspapers.

We did a lot of research.  But at the ‘Sleepwalking’ conference we deliberately selected (sic) to report on:

a. what the future could see (presented by Gregor Wolbring)

b. the media’s role in pursing such a future (a presentation given by me)

c. what laypeople have to say about these issues (presented by Paddy Ladd, me, and Sarah Hirons).

We collected valuable information from: a. two open debates involving mostly Deaf people; b. eight one-to-one interviews conducted face to face or online; and c. interviews with two journalists, a representative from the department of health, and an academic.

We also set up a website. We started out with the philosophy that this had to be a bilingual website, from the word go.  Alas, that proved to be far more difficult than any of us anticipated, most especially setting up a bilingual forum, and in any case, the technology to do so (direct webcapture) wasn’t available until just a few months ago. [I have since learned that it would be technically complex to embed into our website, so we require more funding to develop it.]

Finally, but certainly not least of all, we set up an Advisory Group to advise us throughout the project. We held three meetings, including the final one on Sunday 11th November; this was also intended to be part of our data collection.

What I don’t want to do is ignore that data collection, but in two years it was a lot to gather and our analysing will be ongoing, way beyond the project, which was funded until the end of September, 2012.

Fact and Fiction

One of the key points I was making at the conference is that it is important to distinguish between ‘facts’ and ‘fiction’.

It’s a hard balancing act because developments in genetic science do raise very serious concerns as to the future existence of Deaf and disabled people. Rapid advances are taking place in screening for conditions and in the field of genomics.  I have already explained the testing for conditions; what is happening in genomics is that it is fast becoming possible to map an individual’s entire genetic code, at a shorter space of time and at a cheaper cost.  It is now predicted that GP’s could have every patients entire DNA on their computer; and it would be more cost effective and cheaper.  It would mean that if you go to your GP complaining of an ailment, they would be able to look through your DNA and identify what the problem may be, and prescribe a course of treatment based on that reading.

A key ethical consideration is: what happens if the GP notices something that you may otherwise not know about – for example, the percentage chance that you could or are developing a type of cancer.  Or, indeed, deafness.  There is a but…firstly, these are by no means definitely predictive; what they do is give the percentage chance of a condition developing, not its certainty.  Secondly, they do not prevent the condition, only identify it.

Since most conditions are not possible to identify until after birth (or until in later life), it requires post-natal genetic technology to treat or ‘cure’ these conditions. That has already been happening for some years now, particularly in the USA, where a blood sample is taken from all newborns (a prick on their heel to get the sample, just like in the film Gattaca!), and tests are made for some serious illnesses or conditions.  This allows doctors to provide treatments from an early age.

However, that’s very different from completely curing diseases, illnesses or conditions that have already developed; or, indeed,  ‘designing’ a baby: the field of genetic therapy and genetic engineering [or enhancements].  There have been experiments on mice and gerbils that have indicated these possibilities are getting closer, but there has been very little experimenting on humans. If we take a look at two news reports from the BBC, for example, the first in 1998 and the second in 2012, they are virtually identical. They report on ‘advances’ in research into the deafness of mice, and reflect on how this might restore hearing in humans in the future.

As Gregor Wolbring stated in his presentation, genetic enhancement (or engineering), is being developed, so it doesn’t mean nothing is happening because it is, but it is believed to be the future. Genetic therapy is being made more available; for example, genetic therapy has been approved in Europe to treat  lipoprotein lipase (LPL) deficiency,  but the scientific community is cautious due to some patients contacting leukemia and one teenager in the USA dying during a clinical trial.  That hasn’t deterred scientists (it’s just slowed them down), as the approval for LPL demonstrates. China is more relaxed about controls.

The massive media interest in these stories is tempered by the fact that to actually prevent a baby being born with a condition remains problematic. Screening identifies the percentage chances of a condition developing or becoming possible. Genetic counsellors can help to work out the chances parents have of passing on a disabling condition by examining family history and taking blood samples, while companies such as Counsyl and GenPath require saliva samples to work out the possibilities.  But the way to actually prevent the condition is still through the emotional, difficult and inexact science of, for example, taking blood samples of a mother who is pregnant, amniocentesis, taking blood samples of a fetus, screening of embryo’s through pre-implantation genetic diagnosis (PGD), etc.

Therefore, PGD could help parents select an embryo to increase their chances of having a hearing baby; however, they firstly need IVF treatment, which itself does not have a high success rate and generally leads to less healthy offspring.  There has been one example of a couple who tried this process to select for a hearing baby, but were not successful; and then tried the other embryo’s, but none led to a pregnancy.

The other way is to test the fetus and, if it is discovered it will be born with Downs, or any other condition such as tay-sachs or cystic fibrosis (and, indeed deafness), the only option would be to carry out an abortion.

Therefore, much of what is reported in the media remains over-hyped. That means the Deaf and disabled community have time to influence and affect science, society and prospective parents. This news is positive for those who argue that being Deaf or disabled does not equate to a lower quality of life.  The 3-4 genetic ‘abnormalities’ we ALL carry do not necessarily determine who or what we will become; there are also environmental factors. 

For these reasons, the potential for a Gattaca-type society, or the scenario as depicted in ‘The End’, is currently in the realm of hype. But that does not mean that if the science suddenly finds a ‘breakthrough’ that enables gene therapy or engineering to become cheap, painless and easily available, we will not see the emergence of ‘positive eugenics’, which is surely an oxymoron.

There is a movement to promote these developments, by scientists, writers, philosophers, journalists and many others. And it goes by the name of liberal eugenics.

[1] This project would not have been possible without funding from The Leverhulme Trust and the voluntary work of the following three people: Dr Paddy Ladd (as Principle Investigator of the project) at the Centre for Deaf Studies, University of Bristol; Sarah Hirons (who kept the media collection from 2007-2008); and Alison Bryan (who had also kept a collection of media reporting and other documents, and had painstakingly restored some important parts of the original ‘Stop Eugenics’ website that had been hacked and nearly destroyed).

[2] See AoHL‘s Biomedical Strategy 2011-2013

[3] I have put up all the powerpoints that were used at our conference, and they can be found on the deafhoodgenetics website through this highlighted link.

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