UK genetic study on autism

As people may have heard in the news, a new study launched yesterday called Spectrum10k. I thought I'd post it here in case any of our autistic members had missed it.

Headline description

Spectrum 10K aims to investigate the genetic and environmental factors that contribute to autism and related physical and mental health conditions to better understand wellbeing in autistic people and their families.

More details

When you sign-up to take part in Spectrum 10K, you will be asked to complete an online questionnaire that typically takes approximately 30 minutes to complete, and provide a DNA saliva sample. You will be sent a DNA sample kit which you can use to post your saliva sample back to the Spectrum 10K team. Spectrum 10K researchers will study the information collected from the questionnaire and DNA saliva sample alongside your electronic health records (EHRs).

You will have the option to complete additional questionnaires. You can complete these all at once, or save your progress and complete these in your own time.

Web link

https://join.spectrum10k.org


There are sections of the questionnaires that can be a bit tricky, as it's based on the assumption that autism and the mental health challenges that sometimes accompany it are an individual's main issue. That's not the case for everyone, and although one section does specifically ask about neurological diagnoses (including ME), I found that a couple of answers about energy levels in the mental health sections gave me a score when actually the low energy has nothing to do with mental health. It didn't appear to skew the questionnaire significantly, though.

 

The news made it sound like this study would be about mother blaming - e.g. the premise was that people end up autistic because of lifestyle choices made by the mother before or during pregnancy, and this was what would be being researched in this study.

 

Didn't hear that one! Honestly, bloody journalists...it's mostly about genetics (so in fairness I suppose mothers are 50% to blame), but the only questions I can remember about family in the main survey are whether they had autism or related diagnoses, how old your parents were when you were born, plus straightforward health questions you might find in any detailed survey about things like heart disease, cancer, stroke, etc in parents, siblings, aunts and uncles, and grandparents.

I also ploughed through all the supplementary questionnaires , and neither smoking/alcohol/drug consumption in pregnancy, nor breastfeeding, are mentioned anywhere. There are optional sections asking a small number of questions such as whether there was someone to take you to the doctor if you needed to go, or whether you suffered abuse; it doesn't specify by parents, just 'adults' in one section and 'other children' in another. These questions didn't go into any detail, and formed a tiny minority of the total, most of which are focused on the individual and their experience of autism.

 

That would be pretty ugly. I hope and suspect that this is not true. Perhaps this is due to poor journalism. They might still have in mind the 'refrigerator mother' hypothesis that was proposed for why people developed autism - this is going back a while - 1960s/70s perhaps - or earlier. Mumbo jumbo but stuff sticks I guess!

 

I have a lot of concerns about this particular study, but I don't have the capacity to go into them here on the ME forum. The study is being critically discussed on the Autscape email chat list and on other autism forums and social media.

I will not be participating in the study and won't be suggesting it to anyone else. I get alarm bells ringing at just the sound of Simon Baron Cohen's name.

I find it highly unethical that they are asking for parents and carers to put forward their children's and/or the DNA of those adult individuals who cannot give their informed consent themselves due to either their age or their lack of mental capacity or both. It should be noted that unlike genetic testing at a family level, there will be no direct benefit to any individual that participates in this trial.

By participating in this trial you are also consenting for your DNA ito be shared with other unnamed researchers and used for other unspecified studies, including those conducted by commercial 'partners'. It took me 10 minutes of looking through the site to find the small print on how to even opt out of that, basically it is by withdrawing consent at some future undefined point rather than being given a clear opt-out choice upfront.

The researchers are making great claims about how this will improve healthcare and treatments for autistic people, yet we know how conservative the researchers of the ME GWAS are being about what it might show or how useful the data might or might not be. I don't know enough about GWAS research to be able to critique the study but they are seeking 10,000 autistic people (not sure if this figure includes the family members or not) for what is a very heterogenous population, more heterogenous than ME/CFS.

A professional diagnosis must have been made, yet we know that many autistic people, especially females, are not diagnosed due to the gender bias of the diagnostic tools and clinician bias. The Spectrum 10,000 project are not seeking DNA for a comparison control group, so I assume they will be getting this data from the UK Biobank, but when I looked them up I could only find references to adult healthy controls there. So age and gender seem to be overlooked biases in the project which would surely affect the validity of any results.

To put this in context, autistic people have multiple social and practical barriers in just getting access to the standard healthcare the NHS offers. It has taken years of campaigning to get the government to just trial annual health checks for autistic patients. We still do not have mandatory autism training for health and social care practitioners in place and have yet to see if the forthcoming training will be fit for purpose or improve practice. As Luna's recent hospital experience has shown, the Autism Hospital Passport is still not being recognised by hospital staff. So in the view of many autistic advocates, this project money could be much better spent getting the known healthcare problems of autistic people resolved.

 

I think you can opt out of sharing with commercial partners before you sign. I ticked No for that box, even though I don't think I feel particularly strongly about it.

Most of the autistic folk I know personally seem to have joined up. This is actually how I heard about it, as I'm not a member of any autism groups or charities. They're joining on their own behalf, though, they're not being signed up by parents. My family (what's left of it – I'm quite old!) seems happy enough to chip in as well. There's no-one under 18 and I'm the only one with autism still living anyway, so we don't have any issues over capacity.

 

website
https://www.autismresearchcentre.com/projects/autism-genetics-study/

 

I am worried about this study, the people involved, and information I can find about the players. The aims of the study are not well articulated and the website of the project is very worrying. I am afraid I don't have the energy to write a detailed comment right now but there are a lot of people raising concerns on twitter using #actuallyautistic and #stopspectrum10K and I share those concerns. I am actually finding it quite disturbing. x

Here is the "team" with descriptions of their interests:
https://spectrum10k.org/our-team/

They do say they are opposed to eugenics & "curing" or "eradicating" autism here:
https://www.cam.ac.uk/research/news...largest-study-of-autism?utm_campaign=research

"Instead, their research aims to identify types of support and treatment which alleviate unwanted symptoms and co-occurring conditions that cause autistic people distress."

Hm, what kinds of "support and treatment"?

 

Precisely. They seem incapable of actual dialogue with autistic people, which would be the simple and more immediate way to find out their medical needs and what could be done to help autistic people access the healthcare and social support they desperately need now but are not getting.

I stepped out of the autism advocacy work a few years ago to focus on the ME/CFS guidelines as I do not have the cognitive or physical capacity to do both. I only became aware of the study from my Autscape email chat list. From what I can tell there is a lot of concern in the autistic self advocacy community about this study in particular.

 

Yeah I don't believe them for a second. The project's co-lead, Daniel Geschwind, has links to an organisation called 'Cure Autism Now'.

(For those not well-versed in autism issues, seeking a "cure" is bad because it would almost certainly lead to eugenics trying to do genetic screenings in order to prevent autistic people being born.)

The vast majority of the Autistic community does not want a cure, because we believe there is nothing wrong with us being different to other people, the problem is that society isn't accepting of us.

Because autism is a lifelong thing, curing autism means trying to prevent the births of autistic people. They believe that it would be better if we didn't exist.

Also, Simon Baron-Cohen, who's leading the project, is basically the Wessely/Sharpe of the autism world. He cannot be trusted. He has done so much harm already.

Oh, and autistic people who oppose the project are already getting called "anti-science". Sound familiar?

So yeah, it's a NO from me. And I strongly urge other autistic people not to participate.

 

Yes, you can opt out of sharing your data with commercial partners. But you CANNOT opt out of your data being shared with other researchers for other studies - studies which we know nothing about.

 

This survey is doing the rounds on Instagram.
There seems to be awareness that this is not what it appears to be and ( within the younger community at least) advocacy not to participate.

 

I was also more worried about the involvement of Geschwind than Baron-Cohen in many ways. He could have picked any number of people to do a study with, but this person?? I was also concerned about the person who listed something about the genetics of "empathy" in their interests. Baron-Cohen himself has run into a lot of problems about this and I'm not aware that he has ever retracted some of his previous claims or acknowledged harm. I have seen him attempt to retract something on twitter, which isn't really the place for it.

Baron-Cohen has generally been terrible about acknowledging the harm done by his extremely sloppy and frankly baseless research. I am however never clear the extent to which SBC knows what he's doing as while I do not trust him at all he does seem to genuinely not understand many issues. He shows a persistent lack of understanding of autistic people mixed with actions seeking to protect his reputation. He seems to try to update his line on autistic people every few years, but it is always just a more "current" (but still out of date tbh) way of pathologizing and stigmatizing them. As I said, I am not sure the extent to which he knows what he is doing as he comes over as not understanding people very well. Perhaps this is too generous.

I think he has a few pet ideas and cannot let go of them as this is how he sees the world and autistic people. I worry (in addition to other concerns about how the information in the study will be used) that the team is moulded in this vein and does not understand the issues involved, which could lead to further harm to autistic people. The materials do not inspire confidence and I do not believe the caveat about not doing eugenics represents a real engagement with those concerns either.

 

I've been out of the autism advocacy community for quite a few years so don't know much about this guy. Do you have a few links to any critical articles giving more background on Geschwind?

 

Despite causing considerable harm to the autistic community, Simon Baron Cohen received his knighthood this year. Sound like a familiar pattern to anyone?

 

Responding to a deleted post.

There is some misunderstanding of the nature of autism. It is not a disease. This project states that it does not want to "cure" autism; they are very clear about it in their materials. They are mainly looking into comorbidities it seems and a bunch of other stuff that they seem to be wanting to call "wellbeing" under the banner of "support". It's actually fairly unclear what they are doing (looking into genetic musical ability??) but that's a longer topic.

Most of the concerns I have seen raised have asked questions about how the genetic data is going to be used, including for further research. This is a major issue and people are right to be concerned about things like prenatal screening that occurs in Down's. This is not a "ridiculous" concern, particularly due to persistent misunderstandings about autistic people and autism. Any genetics based study on autism is going to come with significant ethical concerns and I am sure this was known to everyone involved; reading through the project materials does not inspire confidence in the team as they have not said enough to offset these concerns and have also been involved in some harmful and stigmatizing projects, and so it's not surprising that autistic advocates are worried.

 

I will try to find something more than just what I was reading about "Cure Autism Now"/disease model type language materials etc and if I find anything good I'll post it here. I have not been that active either; it's been quite depressing lately with the electric shock story.

 

I found this quote by Geschwind, which certainly implies he considers autistic people 'sub-human':

 

I studied at Cambridge University, and Baron-Cohen is based in the psychology department there. It was well-known amongst autistic students at the uni that he was awful to autistic students, especially female ones. Never met him myself though. Unfortunately I don't remember the specifics of what he did, as it was some years ago now.

 

https://www.verywellhealth.com/why-autistic-people-are-against-spectrum-10k-5199849