On the week of the 26th August 2021, a new research project into autism was launched named Spectrum 10K. The questions started almost immediately from there. The idea of the project is to collect DNA samples from 10,000 autistic people to examine our genetics, to see how our experiences “shape our wellbeing”. The project has attracted attention largely for its celebrity endorsement from individuals like Chris Packham. Spectrum 10k aims to be the largest genetic study conducted on autism in the United Kingdom’s history, and exists – at least in part – to create a giant autism DNA database.
To give some credit to Spectrum10K, they claim that they have no intention of attempting to find a cure for autism, with the Autism Research Centre (ARC) claiming to be “ethically opposed to any form of eugenics”. The study claims it wants to look at comorbidities with autism, including anxiety, depression, and gastrointestinal conditions. However, even if this is not thier intention, Spectrum 10K cant claim that the information they gather will never be used for eugenic purposes. Newly discovered genetic syndromes could give rise to more prenatal tests. The study has already been approved to be shared with “commercial collaborators” or “potential academic collaborators”. Similarly, it’s difficult not to be skeptical of any study looking at the genetic links of autism, considering the specific ways this study will benefit our wellbeing are never specified.
Much of the autistic community is rightfully concerned, with the hashtag #StopSpectrum10K circulating. Speaking personally, I am not entirely opposed to studies of this nature but they should be led by autisitc people, honest about thier intentions, and honest about what happens to the data that’s gathered. Some of the co-occurring conditions they target are ADHD and dyspraxia, the latter of which I also have and the former of which I have family members with. These are so closely tied to autism that eliminating them seems dangerously close to eliminating autism itself. The mind doesn’t draw strict lines and in cases like mine you can’t so meticulously distinguish between autism and dyspraxia because they are, in many ways, one and the same! The study also mentions mental health difficulties. However, the idea that these can be explained by autistic DNA is questionable at best and an example of psychological determinism – the idea that absolutely everything happens because of pre-existing conditions – at its worst. Rather, research shows that autistic mental health and wellbeing issues are accounted for by lack of societal acceptance, a need to hide or ‘ mask’ autism to “fit in” or a lack of accessible opportunities. These alongside a range of other social factors that genetic data cannot address.
Searching through the hashtag highlights many of these concerns and more. Unfortunately, some of the projects celebrity ambassadors have been less than receptive to these critiques, with Chris Packham seeming to suggest that anyone who has ethical concerns about a study the like of which has never been done before are “conspiracy theorists” who “fear science.” (by this logic, presumably his objections to animal testing are also anti-science) This is despite the fact that the autisitc community have plenty of reasons to be concerned.
Who’s Behind Spectrum 10K?
One approach that a lot of studies today are actively tying to avoid is that of research being something that ‘happens’ to people, rather than something that is ‘done with’ people. Its in part the opposite approach which led to the early conceptions of autism as something that happens because of bad parents and have caused autism to be historically cast as an affliction.
Notable among those leading the project is Simon Baron Cohen – he has fed the narrative that autistic people lack the ability to empathize with other people, that people with autism process the world through a stereotypically ‘male’ lens and that only boys are autistic. His ideas have led to many people going undiagnosed. There are potentially hundreds of thousands whose mental health has been damaged by not knowing they are autistic, because they did not fit his extremely narrow, outdated and over simplistic view of the condition. Likewise, Daniel Geschwind has a history of stem cell research looking for causes of autism, and leads an organisation called the Centre for Autism Research and Treatment which endorses the use of Applied Behavioral Analysis (ABA) – a method which stopped being professionally prescribed due to assertions by adherents that the method cures autism, despite its association with PTSD and trauma. Tellingly, Geschwind was the first chair of an organisation called Cure Autism Now who are partners with Autism Speaks. With all that in mind, how can autistic people believe that this study are prepared to work with people on the spectrum to understand autism?
There is no co-production in Spectrum 10K. Indeed, there hasn’t even been any information that openly Autistic researchers have been involved in the design of the study; only that an advisory panel included 4 Autistic people out of 11. I would remind everyone that this study is hoping to collect the DNA of 10,000 autistic people. What is the excuse for not including people on the spectrum at every level of this project? Autism research has a bad reputation amongst the neurodiversity community, not due to an imagined bias against science but because its traditionally been done by people with little knowledge of autism, as a means of ‘alleviating’ the condition, rather than focusing on meaningful and measurable goals like improving our quality of life. We do need more research into autism, but without involvement from autisitc people the field will continue to be fraught with discrimination and misunderstanding.
Data, Consent and Transparency
One of the most worrying aspects of this study is the consent form. Participants cannot ‘opt out’ of having thier DNA data shared with third parties for future use. This seems strange – someone might consent to have thier DNA used for one purpose and not for another. Despite this, if participants indicate that they don’t want this to happen, they get notified that “Unfortunately, we can only include participants who have indicated ‘Yes’ to the above statement in Spectrum 10K, as this is essential for the study”, the word ‘essential’ indicating that they do indeed intend to share this data, which of course raises the questions of “to whom?” and “for what purpose?”. It would seem to an outside observer that while Spectrum10K are perfectly aware of the ethical risks of sharing this information, they are washing thier hands of any responsibility they might have for other entities using the information to – for instance – create a pre-natal test for autism like the ones that exist for downs syndrome, or do research into the causes in hope of finding a cure.
While none of this is confirmed, the lack of thorough information provided by Spectrum10K means that its perfectly reasonable to speculate and ask questions. Its especially important to do so, when the consent forms themselves are so confusing – DNA collection, data collection, and complete access to medical records is asked for without any description as to the study itself or who that data will be passed on to. The form also says that while participants can withdraw, the study will keep the information they already have and although there is a ‘no further use’ option, the form states that under this choice, “samples” will be destroyed with no clarification as to whether this includes the information that’s already been put into the databases.
This is a recurring trend as well – words like “samples,” “DNA,” “information,” and “data” are used interchangeably throughout the consent form. I know myself that when you’re talking in scientific terms, the words you use are vitally important. However, without so much as a definition guide, the form is difficult to understand in detail, especially for some autisitc people like me, who often require very specific language in order to properly comprehend what they’re reading. The most charitable explanation for this is carelessness, with the least charitable being deliberate vagueness in order to take advantage of people with a protected characteristic, some of whom might not fully understand what they are signing up to.
On that note, the study encourages parents to sign over DNA samples of children and adults who cannot consent for themselves. To clarify, autistic individuals could have thier DNA handed over, but due to the studies insistence on data sharing, this would be a lifelong commitment that they would have no control over. By not being clear about the reasons and aims of the study, the researchers – willfully or not – are being deeply deceitful, muddying the waters and inviting participants who – due to the lack of information presented by spectrum 10K – cannot possibly give truly informed consent, which is deeply worrying given the nature of the study.
Eugenics and ‘Quality of life’
By far the biggest concerns around Spectrum 10K are around the possibility that this study might be used for eugenic-based causes – for example, discovering the cause of autism could lead to the development of screening technology, like those offered to parents to give them an option to abort children with Down Syndrome. And again, this hasn’t got to be the aim of this specific study to be one of the consequences of such a large DNA collection exercise. Another possibility is that the data could be used to encourage identification of autism from an early age as a means to ‘condition out’ the autism through behavioral therapies.
As stated earlier, Spectrum 10K are touting the purposes of the study as being to improve autisitc peoples wellbeing, focusing specifically on co-occurring conditions. However, the grant application states the following:
“We will accelerate gene discovery by collecting the DNA from 10,000 people with autism in the UK and thier immediate families…this large scale resource will enable us to identify several genetic variants that contribute to the development of autism”
Nowhere does this document mention anything about wellbeing or comorbidities. If this study already has the funding to do this study, participants should know specifically what has been approved. The lack of transparency surrounding this study is completely unethical. Despite that, the above statement can’t be found anywhere on the studies website. The project does attempt to alleviate these fears by saying that the data will only be passed to organisations whose values match theirs. However, since we’ve already established that Spectrum 10K’s values are vague at best and questionable at worst, this does very little to ease any of my worry’s.
This leads me to the issue of quality of life, which the study seems to treat like a measurable factor and not a complex one thats dependent on a myriad of factors. As everything to do with this study is obscure or confusing, nowhere is the definition of ‘quality of life’ given nor explanation as to how the study would improve peoples lives. Remember that there is no co-production with autisitc people in this study so any judgements about quality of life would have been made by non-autisitc people. On the issue of mental health, the reason so many autisitc people might be suffering on that front is because we are more likely to be victims of abuse, a lot of us have experienced social isolation or poor emotional development and many have to spend every day pretending that they are neurotypical. This is all stuff that neurodivergent individuals could have told Baron-Cohen and his team, had they entertained the idea of working with them. Whatsmore, the public project materials make the spurious claim that sleep quality, anxiety and depression are all rooted in genetic factors, without presenting any evidence for this wide-net assumption whatsoever.
All this indicates that Spectrum 10K are basing thier guiding assumptions on the ‘pathology paradigm’ – the idea that mental health problems and the like can be explained with problems intrinsic to the individuals genetics, and therefore can be treated as a medical problem. Implicit within this is the idea that there is one ‘correct’ style of being which is framed as normal while autism, ADHD and other conditions are viewed as disorders. This is in direct conflict with the perspective of the Actually Autistic community who feel shut out from this study.
An Atypical Perspective
Theres an inherent contradiction at the heart of Spectrum 10Ks claim to have the best interests of autisitc people at heart. On the one hand they claim to want to help autistic people with problems like mental health struggles. However, by presenting all the issues which autisitc people experience as problems intrinsic to autism, they are demonstrating thier lack of knowledge about autisitc people – a problem that’s exacerbated by the lack of cooperation with the autistic community on this project. This is the source of much of the vagueness and confusion around the studies intentions – they say thier intentions are noble but by focusing on the person, they are not just implicitly implying that autistic people are broken, but opening a massive dead end in this studies ambitions to improve our lives. Studying genetic data would not necessarily be fruitless, but extremely limited in pursuing this goal.
This raises two possibilities – the first is that the study itself doesn’t know what they will do with the data or what purpose it would serve. To an extent, a degree of scientific ignorance is a good thing as studies shouldn’t decide what they’re going to find before they’ve done any work, but being unable to answer massive questions around how that data will be used in the future, is far from ideal. Still, surely the study would have needed to be far more specific about thier intentions to receive funding and resources? This brings us to the possibility that Spectrum10K are not being entirely honest about what they actually want this data for. The autisitc community certainly have cause to be worried about the possibility that thier data will be used for eugenic purposes, considering some of the people involved and the history of studies of this style. This may be dismissed by some – especially Spectrum 10K’s celebrity ambassadors – as ‘anti-science’ or ‘conspiratorial’ but this really is nonsense. Throughout history, science – including autism science – has needed to learn to take into account ethical questions, the concerns of campaigners and non-scientists in order to grow and develop. Criticising a deeply flawed research project is not anti-science. Attempting to shut down outside worries and calls for transparency is most certainly anti-science.
Unfortunately, this research project is the latest in a long list of scientific endevours – many of them by Baron Cohen and Geschwind – which due to thier lack of willingness to work with autisitc people, have done a disservice to the community and actually made peoples lives harder. Researchers are capable of being wrong, both morally and factually and much of autisitc research hasn’t done much to win the support of the people it claims to be helping. As one very good autism researcher excellently summarised:
“My sense is that genetics research projects like Spectrum 10k are requiring Autistic people to have a level of trust in autism research that most autism researchers absolutely have not earned.”Kristen Bottema-Beutel, Boston College