A large, UK-based study of genetics and autism spectrum disorder (ASD) has been suspended, following criticism that it failed to properly consult the autism community about the goals of the research. Concerns about the study include fears that its data could potentially be misused by other researchers seeking to ‘cure’ or eradicate ASD.
The Spectrum 10K study is led by Simon Baron-Cohen, director of the Autism Research Center (ARC) at the University of Cambridge, UK. The £3-million (US$4-million) project, which is funded by the London-based biomedical funding charity Wellcome, is the largest genetic study of ASD in the United Kingdom. It aims to collect DNA samples, together with information on participants’ mental and physical health, from 10,000 people with autism and their families. This will be used to study the genetic and environmental contributions to ASD, and to co-occurring conditions such as epilepsy and gut-health problems. “If we can understand why these co-occurring conditions are more frequent in autistic people, that could open the door to treatment or management of very distressing symptoms,” says Baron-Cohen.
But soon after the study’s high-profile launch on 24 August, people with autism and some ASD researchers expressed concern that it had gone ahead without meaningfully consulting the autism community. Fears about the sharing of genetic data and an alleged failure to properly explain the benefits of the research have been raised by a group called Boycott Spectrum 10K, which is led by people with autism. The group plans to protest outside the ARC premises in Cambridge in October. A separate petition against the study gathered more than 5,000 signatures.
Damian Milton, a researcher in intellectual and developmental disabilities at the University of Kent in Canterbury, UK, is one of those who signed the Boycott Spectrum 10K petition. Milton has been diagnosed with Asperger’s syndrome, a form of ASD. He says it is not clear how the study will improve participants’ well-being, and its “aim seems to be more about collecting DNA samples and data sharing”.
As a result of the backlash, the Spectrum 10K team paused the study on 10 September, apologized for causing distress, and promised a deeper consultation with people with autism and their families.
Even before Spectrum 10K launched, some people with autism were uncomfortable with aspects of Baron-Cohen’s research. He developed and popularized the controversial ‘extreme male brain’ theory of ASD, which is based on the idea that, on average, males are better than females at ‘systematizing’ — patterns, and sticking to rules — whereas females are better at empathizing . Behaviour seen in people with autism, Baron-Cohen asserts, sits firmly at the male end of this continuum.
“I think Simon has made some really prominent contributions to autism theory,” says Sue Fletcher-Watson, a psychologist at the University of Edinburgh, UK, who studies ASD. But “there’s a component of suggesting that autistic people don’t have empathy”, she says. “That has been extremely damaging and stigmatizing for autistic people, and is very much at odds with many autistic people’s lived experience, which is often a sort of uncontrollable excess of empathy.”
The antipathy towards these theories is now overlaid by concerns about the genetic research planned by Spectrum 10K, and how the study will share its data. Many funding bodies, including Wellcome, mandate researchers to make their results freely available. But critics of Spectrum 10K want assurances that the genetic data will not be misused by researchers, and fear that the open-access policy means the project cannot guarantee against this possibility.
Kieran Rose, an advocate for people with autism and a member of the Boycott Spectrum 10K group, says he is worried that the research could lead to a prenatal screening test for ASD or related conditions. “A genetic study would be terrifying for lots of autistic people; there’s a long-established and well-known history around eugenics and disability,” adds Fletcher-Watson.
The Spectrum 10K website states that it “does not aim to eradicate autism”. Baron-Cohen says that his team is vehemently against eugenics, and that prenatal screening is out of the question. “Genetics of autism is complex; we may be talking about hundreds or thousands of genes,” he says. “You could never diagnose autism prenatally, and that’s because, even if we knew the biology, diagnosis rests on behaviour. That’s only possible to observe postnatally.”
The autism community is also frustrated that it was not consulted by Spectrum 10K about the kind of research that would best serve people with autism. Autistica, a London-based ASD charity, initially lent its support to the study, but later asked the Spectrum 10K team to remove its endorsement from study material. “There is a real need for a broader discussion between autistic people and their families, and researchers,” says James Cusack, Autistica’s chief executive.
To address these misgivings, the Spectrum 10K team is now planning a consultation with hundreds of people with autism and their families, and intends to create a representative committee to oversee the project’s data-sharing strategy. “If there are ethical reasons for limiting who can access the data, that’s fine, you can put those constraints in place,” Baron-Cohen says.
In a statement, a Wellcome spokesperson said: “We are fully supportive of the researchers’ plans to pause and undertake further engagement work, consistent with inclusive research principles.”
The pause could last several months. Meanwhile, the Health Research Authority (HRA), a UK regulator of health and social-care research, is investigating several unspecified concerns about Spectrum 10K’s ethics approval. That investigation might take several weeks, and Spectrum 10K cannot restart without the HRA’s permission, says Eve Hart, the HRA’s head of communications.
“I do think a research team with this level of experience in autism research should have seen this coming,” says Fletcher-Watson. “They should have done more groundwork to engage with the community and prevent the distress that’s been caused, and to design a study that would serve the community’s needs.”