Spoiler alert! I won’t be taking part.
I should state from the outset that I am strongly in favour of science (I am an academic at a university after all) and I am by no means against genetic research. In fact, I can really see the potential for genetics to treat Meniere’s, for example. I don't believe in conspiracy theories and I am not easily swayed by majority opinions. I’m quite happy to be anomalous if necessary. Having said that, I am not naive about science either. Just because something is scientific doesn’t necessarily make it good. Let’s not forget that it was “The Lancet”, no less, that published that awful paper linking autism with vaccines (I wont put the name of the scientist in print). Some of the most wrong-headed, poor quality and destructive ideas have been promulgated under the guise of scientific research. That doesn’t make science a bad thing. It just means we have to improve our quality mechanisms.
I am also very familiar with evaluating scientific proposals, having considered hundreds, even thousands, as part of my work for the EU and other scientific committees. I am not an autism researcher and I know little about genetics, but I still consider myself able to make a reasonably objective evaluation of the merits of any project. However, in this case I am at a disadvantage. Normally I would have access to the full proposal, giving the aims and objectives, methodology, state of the art, full backgrounds of all the investigators, etc. Since I have no sight of these, my evaluation of Spectrum 10K is based purely on the same public information and PR campaign that has been given to everyone else.
Spectrum 10k wants me to send them my DNA by spitting into a test-tube and to give them access to my medical records. The reasons are fairly clear on one level: they want to create an enormous database on which future genetics research may be based. On another level, the reasons are pretty unclear. For example, in relation to the access to medical records they state: “One of the aims of Spectrum 10k is to identify factors that contribute to co-occurring physical and mental health conditions in autistic individuals”, which seems quite vague. I may only speculate that there will be a correlative study made between the co-occurring conditions and the genetic markers, but there is insufficient description of the methodology to be sure of this.
The central problem with Spectrum 10k is one of trust. They state unequivocally that they are against eugenics. Of course they are. But there is a well-founded fear that, once the database has been assembled, it could be put to uses other than those intended at the outset. Why is this fear “well-founded”? It’s partly a matter of historical fact. One only has to read Steve Silberman’s ‘Neurotribes’ to understand the history of abuse and medically-justified torture (even murder) to which autistic people have been subjected, and indeed still are being subjected in some places.
To try to understand the Spectrum 10k proposition better, I watched this video of a lecture about ASD genetics by one of the Co-Investigators, Dr Dan Geschwind of the UCLA Centre for Autism Research and Treatment. He explains that the aims of precision medicine are to create a personalised treatment for every individual. As he states: "Everybody will have their genome done at some point in the future". The lecture starts out talking about cancer, enthusing about the successes and potential of genetic research to target cancers in individuals. It then moves on to autism. The message is perfectly clear: autism, just like cancer, may be eradicated if the c.500 genetic markers can be accurately identified and modified. He states: "if we know the mechanism of mutation, then we can prevent it" (10’ 26”). He uses the phrase "cure the autism" (10’ 58”) and refers repeatedly to the “risk of autism”. He says “it would be great if we had something analogous to the killing of dividing cells [in cancer] for autism” (19’ 51”). If you treat autism as a disease, then of course you will seek to prevent it or cure it. But I am not diseased by autism and I don’t believe other autistic people are either. We are just a different neurotype and one that has a right to exist. What we need is social acceptance and a better environment to live in.
There is another aspect of Spectrum 10K that I find highly problematic. The website states: “Spectrum 10K aims to investigate genetic and environmental factors that contribute to the wellbeing of autistic individuals and their families”. Well now, the “environmental factors” are of far greater interest to me (and, I suspect, the vast majority of autistic people) than genetics. So, I eagerly combed the website looking for an indication of how the environmental factors would be investigated. What are the research questions? What is the methodology? What are the anticipated outcomes? Any hypotheses? Any initial frame of reference? Any planned surveys, or experiments, or even consultations? I searched in vain. There is almost no discussion of this all-important area, as far as I can see. This absence of context is further emphasized by the membership of the research team, who are all geneticists, and the advisory panel which, we are told, exists, but whose members are unnamed. This does not inspire confidence.
And that is the fundamental problem. To be able to engage 10,000 people in an enormous research project like this, there has to be a sense of community involvement. People need to be carried along, to be convinced, to be able to see the benefits for themselves and others they care about, to be able to explain the rationale for the research. They cannot be expected simply to take things on trust because a lot of important people say that it has to be this way.
The project seems to be on the back foot now. The National Autistic Society has revealed that they declined to take part and there have been petitions and letters and a social media campaign against it. A new statement was published yesterday acknowledging the problems and protesting good intentions. This appears to redirect Spectrum 10k somewhat towards the co-occurring conditions more than autism itself. This is certainly a more positive message. It could greatly improve lives if, for example, commonly occurring physical problems that disproportionately affect autistic people could be more effectively treated. But that still seems to be an afterthought and not the main aim of Spectrum 10k. While I am always open to being convinced to change my opinions by sustained and reasoned arguments supported by evidence, at time of writing I’m afraid my objections remain.