What is the Spectrum 10K DNA study into autism - and why are autistic people concerned?

Autistic advocates have expressed concerns over a University of Cambridge study, over fears that the research into “genetic and environmental factors that contribute to the wellbeing of autistic individuals and their families” amounts to “eugenics”.

Branded “the largest study of autism in the UK”, Spectrum 10K – which also involves researchers from the Wellcome Sanger Institute and the University of California Los Angeles (UCLA) – looks to collect questionnaire responses and DNA samples from 10,000 autistic people.

Professor Simon Baron-Cohen, director of Cambridge’s Autism Research Centre and project leader, said there is an “urgent need” to “better understand” the needs of autistic people.

“Spectrum 10K hopes to answer questions such as why some autistic people have epilepsy or poor mental health outcomes and others do not,” he added.

Public support

Celebrities are amongst those who have backed the initiative, including Take Me Out presenter Paddy McGuinness and conservationist Chris Packham, who is autistic.

Commenting on the study, McGuinness said: “As a parent of three autistic children, I am really excited to support Spectrum 10K. This research is important to help us understand what makes every autistic person different, and how best to support them.”

“I’m honoured to be an ambassador of Spectrum 10K because I believe in the value of science to inform and support services that autistic children and adults will need,” Packham wrote on Twitter.

Carrie and David Grant, broadcasters and vocal coaches known for appearing on Fame Academy, are ambassadors of the study.

“As parents of four children, two of whom are autistic, we understand it can feel like there are a lot of forms and surveys to fill out with little direct benefit.

“With Spectrum 10K there is hope that it could have real impact on health outcomes and the support available for autistic people.

“Our passion is to see more being done for girls and women on the spectrum and therefore we ask you to read more about Spectrum 10K and consider taking part.”

Charities representing autistic people have also praised the project, with Dr James Cusack, CEO of Autistica, saying that it “can enable autistic people ... to build a future where support is tailored to every individual’s needs”.

Autism Wessex’s CEO Siún Cranny added that it “opens the door” to gathering evidence which can “inform the journey towards a world that is more accepting of autism”.

Elsewhere, autistic people have also come forward as ambassadors, with Eleanor Macy, an autistic adult who also has ADHD, saying: “I believe research like Spectrum 10K will help us understand more about the condition, including the positives which I call our ‘superpowers’.”

Her daughter Katharine, an autistic PhD student, added: “Understanding autism and how it impacts the autistic community is vital and that’s why this research is so important to me! Knowing the barriers I’ll face in the future will help me better prepare.”

However, while the team behind Spectrum 10K repeatedly insist that they are “not searching for a cure” for the condition and that they are “ethically opposed to any form of eugenics”, concerns have been raised over the security of genetic information and the views of those involved.

“Eugenics” and “cures”

Speaking in April 2019, Baron-Cohen told Spectrum News that “there’s no way we can ever say that a future political leader or a scientist won’t use the research for eugenics”.

“I think responsible scientists can speak out against that and say, ‘these are the positive reasons for doing [genetics research],” he said.

Elsewhere, it’s been revealed that Daniel Geschwind, co-principal investigator of the Spectrum 10K study, has affiliations with an organisation called Cure Autism Now.

“He guided development of the Autism Genetic Resource Exchange, founded by Cure Autism Now, and now a program of Autism Speaks,” a biography on UCLA’s Center for Autism Research and Treatment’s website reads.

In a statement to Indy100, Dr Geschwind said: “Cure Autism Now (CAN) was founded by parents of children with autism in the late 90s to fund research and bring attention to autism. CAN was acquired by Autism Speaks and has not existed for over 10 years.”

Autism Speaks has been branded a “hate group” by autistic people, over its stance on finding a ‘cure’ for autism.

Psychologist Thomas Frazier, who is chief science officer at the organisation, told NBC News in 2019: “In the beginning, [researchers] were looking more for the magic bullet, the magic pill. We were looking for the autism gene, and we thought that would ultimately lead to some kind of cure of autism.

“Then we recognized that we were way off base.”

The group previously included the word ‘cure’ in its mission statement, before it was removed in 2016.

In a frequently asked questions document, Spectrum 10K researchers confirmed that Autism Speaks is not involved in the project, and they “have not spoken to them about it”.

Data security

In October 2019, The Times reported that Stellenbosch University in South Africa had demanded the Wellcome Sanger Institute returns DNA samples collected from indigenous tribes in the country, amid allegations that they had commercialised the health data.

Vice-Rector Eugene Cloete warned that the institute’s conduct “raises serious legal and ethical consequences”.

The claims were refuted by the Sanger Institute at the time, who said that two separate investigations found that “no wrongdoing took place”.

“The inaccurate allegations refer to specific research that aimed to support scientific discovery with partners working in Africa. The Sanger Institute has not commercialised any products based on this research and it has not received and will not financially benefit from any revenues,” a statement on their website reads.

Concerns have also been raised over Spectrum 10K’s disclaimer that “in some instances”, anonymised data may be shared with “commercial collaborators”, “highly secure research databases” or “potential academic collaborators”.

“Because ‘commercial’ and ‘autism’ have such great history,” one autistic Twitter user wrote on Tuesday.

On the issue of data security, Spectrum 10K said in a document: “The data is being securely stored on a University of Cambridge safe haven. Your data will not be sold at any point during or after the study.”

Responding to concerns over commercial collaboration, they added: “Science discovery and research is a fast-moving area. Some companies either today or in the future may be involved in specific research that’s not being conducted in academia.

“One such example may be the use of machine learning to identify who responds to what therapies for depression and anxiety, thereby tailoring support for people with depression and anxiety. We do not want to exclude such research from being carried out just because it’s being carried out by non-academic companies.

“All research proposals will go through the same process and be vetted by the internal team as mentioned above.”

Early steps and feedback

As well as criticism over its ethics, autistic campaigners previously contacted by Spectrum 10K have spoken out about how their initial concerns were allegedly “ignored”.

Connor Ward, a YouTube content creator, wrote: “They approached me last year wanting me to promo it. I wanted a conversation to voice my concerns. We had that conversation.

“They never followed up and today I see they ignored my advisories. They knew a year ago yet chose to ignore.”

Fellow YouTuber IndieAndy added: “They also approached me last year and I just left it because it confused me greatly. But also the wording was horrific.”

Others have found a job advert for the role of project co-ordinator for Spectrum 10K, posted in May 2019, in which it was said that the study “aims to understand the broad heterogeneity within autism that ranges from learning difficulties through to talent”.

“Pardon? So people with [learning difficulties] can’t be talented? Is that the thinking?

“What ‘range’ are we talking about, given that autism is not a learning disability,” asked Ann Memmott, an autistic expert.

Elsewhere, a grant for the study, awarded in 2018, explained that researchers will “combine [the 10,000 DNA samples] with genetic information from 90,000 other people with autism already gathered from around the world”.

“This large-scale resource will enable us to identify several genetic variants that contribute to the development of autism. This information will allow us to better understand the biology of autism, improve on existing methods for diagnosing autism and investigate if there are genetically-defined subgroups of people with autism,” it reads.

On this point, autistic researcher Melissa Chapple commented: “The community have regularly spoken against subgroups. It doesn’t help the lives of autistic people and instead risks dichotomisation and so risks more stigma. Support should be individualised not stereotyped using subgroups.”

Wider criticism

Speaking to Indy100, Ellen Jones, an autistic LGBTQ campaigner and writer said: “The study claims to be trying to improve quality of life for autistic people, but is seemingly attempting to do this through DNA testing, surveys and accessing our medical records - none of those things actually improve the lives of autistic people.

“Autistic quality of life feels like an afterthought - tacked on to distract from the eugenics-esque qualities of the study.”

Jones went on to add that “in an ideal world” there would be “nothing wrong” with investigating genetics related to autism, but we are currently “in a world that actively hates and fears autistic children”.

“Autistic children are regularly forced to undergo conversion ‘therapies’, subjected to treatments including drinking dilute bleach and we cannot forget the anti-vaxx movement pioneered by [Andrew] Wakefield justified itself by ensuring there were fewer autistic people.

“We have already seen the impact of Down Syndrome prenatal screenings and many autistic people feel they could be next. The study also makes clear that data can be shared with both academic and commercial interests and given the accusations already lobbied at one of the leaders of the study - the Wellcome Sanger Institute – […] we have little hope for the data being managed correctly,” she said.

Meanwhile, Jasper Williams, a Deaf and autistic consultant, told us: “The researchers are promoting the idea that it will improve the wellbeing of autistic people, but if anything it will be doing the opposite. You don’t research a genetic mutation unless you are planning on eradication.”

Jones and Williams’ comments are just two remarks made from autistic activists online, with many sharing their thoughts through the hashtag, #StopSpectrum10K:

Spectrum 10K’s statement

In response to concerns raised throughout this week, Spectrum 10K researchers said in a statement: “We understand that some autistic people and their families have concerns over the collection and use of genetic data, which is one part of this study.

“We recognise that we need to do more to explain the value of this research, the measures in place to protect your data, and other concerns.

“We are actively working with autistic people and will be listening to more autistic voices to address these concerns.

“We will update our website and social media as this work progresses,” they said.