Large-scale autism genetics project came to a halt amid backlash

A large UK-based study on genetics and autism spectrum disorders (ASD) has been put on hold, following criticism that it failed to properly consult with the autism community on research goals . Concerns over the study include fears that its data could 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 £ 3million (US $ 4million) project, which is funded by London-based biomedical fundraising charity Wellcome, is the largest genetic study of ASD in the UK. It aims to collect DNA samples, as well as information on the mental and physical health of participants, from 10,000 people with autism and their families. This will be used to study the genetic and environmental contributions to ASD and concomitant conditions such as epilepsy and gut health issues. “If we can understand why these concomitant conditions are more common in people with autism, it could open the door to treatment or management of very distressing symptoms,” says Baron-Cohen.

But shortly after the much-publicized launch of the study on August 24, people with autism and some researchers with autism expressed concern that it was conducted without meaningful consultation with the community. autism. Fears about sharing genetic data and an alleged failure to properly explain the benefits of the research have been raised by a group called the Boycott Spectrum 10K, led by people with autism. The group plans to protest outside the ARC offices in Cambridge in October. A separate petition against the study gathered more than 5,000 signatures.

Damian Milton, an intellectual and developmental disability researcher at the University of Kent in Canterbury, UK, is one of those who signed the Boycott Spectrum 10K petition. Milton was diagnosed with Asperger’s syndrome, a form of ASD. He says it’s not clear how the study will improve the well-being of participants, and its “focus appears to be more DNA sample collection and data sharing.”

Following the backlash, the Spectrum 10K team suspended the study on September 10, apologized for causing distress, and promised further consultation with people with autism and their families.

Fear screening

Even before the launch of Spectrum 10K, some people with autism were uncomfortable with certain 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, men are better than women at “systematizing” – recognizing patterns and obeying rules – while that women are better at empathizing. . The behavior seen in people with autism, says Baron-Cohen, sits firmly at the male end of this continuum.

“I think Simon made some really important contributions to the theory of autism,” says Sue Fletcher-Watson, a psychologist at the University of Edinburgh, UK, who studies ASD. But “there is one element that suggests people with autism don’t have empathy,” she says. “This has been extremely damaging and stigmatizing for people with autism, and is very much at odds with the experience of many people with autism, which is often a sort of uncontrollable excess of empathy.”

Antipathy to these theories is now clouded over by concerns about the genetic research planned by Spectrum 10K and how the study will share its data. Many funders, including Wellcome, require researchers to make their results freely accessible. But critics of Spectrum 10K want reassurance 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.

Autistic advocate and member of the Boycott Spectrum 10K group Kieran Rose is concerned that the research may lead to prenatal testing for ASDs or related conditions. “A genetic study would be terrifying for a lot of people with autism; there is a well-established and well-known history around eugenics and disability, ”adds Fletcher-Watson.

The Spectrum 10K website states that it “is not about eradicating autism.” Baron-Cohen says his team is fiercely against eugenics, and prenatal screening is out of the question. “The genetics of autism are complex; we’re talking maybe hundreds or thousands of genes, ”he says. “You could never diagnose autism before birth, and that’s because, even though we knew the biology, the diagnosis is based on behavior. This is only possible after birth.

Consultation controversy

The autism community is also frustrated that they were not consulted by Spectrum 10K on the type of research that would best serve people with autism. Autistica, a London-based ASD charity, initially supported the study, but then asked the Spectrum 10K team to withdraw their approval of the study material. “There is a real need for a broader discussion between people with autism and their families, and researchers,” said James Cusack, CEO of Autistica.

To address these concerns, 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 to limit who can access the data, that’s fine, you can put those constraints in place,” says Baron-Cohen.

In a statement, a spokesperson for Wellcome said: “We fully support the researchers’ plans to take a break and undertake further engagement work, in accordance with inclusive research principles.”

The break could last several months. Meanwhile, the Health Research Authority (HRA), a UK health and social care research regulatory body, is investigating several unspecified concerns regarding the ethical approval of Spectrum 10K. This investigation could take several weeks, and Spectrum 10K cannot restart without permission from the HRA, said Eve Hart, HRA communications manager.

“I 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 was caused, and to design a study that would meet the needs of the community.”