High-Profile Autism Genetics Project Paused Amid Backlash

The goal of the MSSNG project is to identify all genes that play a role in autism.

The project was a collaboration between Google and Autism Speaks, a prominent autism advocacy group, and launched in April 2016.

It has been met with much criticism from the scientific community since its inception for not including any researchers who work with neurodiversity advocates or autistic people themselves.

What is the research about?

A significant UK-based study of genetics and autism spectrum disorder (ASD) has been halted after accusations that it did not properly inform the autistic community about the research’s aims.

Concerns regarding the project include the possibility that its data will be abused by other researchers attempting to ‘cure’ or eradicate ASD.

What happened?

Simon Baron-Cohen, head of the Autism Research Centre, is the study’s principal investigator.

The Wellcome Trust, a biomedical research organization, is financing the £3 million (US$4 million) initiative.

It has collected DNA samples from 10,000 autistic individuals and their families.

Problems with the study design

Immediately after the study’s high-profile announcement on August 24, autistic people and several ASD academics voiced worry that it had proceeded without significant consultation with the autism community.

Boycott Spectrum 10K, an organization formed by autistic individuals, has expressed concerns over the sharing of genetic data and an apparent inability to properly convey the advantages of the study.

One of those who joined the Boycott Spectrum 10K petition is Damian Milton, a researcher in major mental impairments at the University of Kent in Canterbury, UK.

Milton has Asperger’s syndrome, a kind of autism spectrum disorder.

The original study team apologized for creating anguish and pledged a more in-depth dialogue with participants and their families.

The ethics of obtaining genetic data from people without their permission

Neuroscientist Aaron Baron-Cohen, who pioneered the controversial “extreme male brain’ theory of autism”, established Spectrum 10K.

It is predicated on the assumption that, on average, males are better than females in systematizing and adhering to norms, while females are better at empathizing.

“I think Simon has made some really significant contributions to autism theory, however, there’s a component of implying that autistic individuals don’t have empathy.”

Sue Fletcher-Watson, an ASD researcher at the University of Edinburgh in the United Kingdom.

According to an advocate for and individuals, Spectrum 10K’s genetic study might lead to a prenatal screening test for autism and other disorders.

Many funding agencies, including Wellcome, require researchers to make their findings publicly available. Spectrum 10K detractors seek reassurance that genetic data would not be abused by academics.

What is the controversy about? 

• Autistica’s chief executive, James Cusack, adds, “There is a genuine need for a larger conversation amongst autistic persons and their families, as well as researchers.”
• To allay these fears, the Spectrum 10K team is planning consultation with hundreds of autistic persons and their families, as well as the formation of a representative committee to supervise the project’s data-sharing policy.
• “We are completely supportive of the researchers’ plans to stop and do more engagement activities, keeping with inclusive research principles,” a Wellcome spokesman said in a statement.
• It’s possible that the delay will continue for several months. According to Eve Hart, the HRA’s head of communications, the inquiry might take many weeks, and Spectrum 10K cannot resume without the HRA’s consent.
• “I believe a study team with this degree of autism research experience should have recognized this coming,” Fletcher-Watson adds.

To wrap things up

Scientists and autistic people have signed an open letter calling for the authors to retract their papers. We asked researchers and campaigners for their responses to the developments. The project was launched in February by a large private genetics company called 23andMe, which makes an at-home DNA test. It is the first direct-to-consumer genetic study of autism using information from people’s entire genomes, as opposed to previous studies that have only used the exome – the 1% or so of DNA that codes for proteins.