UK ‘Spectrum 10k’ study controversy

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Last week marked the launch of the largest autism study in the United Kingdom called Spectrum 10K. The goal of the research is to learn more about the biological and environmental factors that may lead to diversity on the autism spectrum..

Spectrum 10k will be led by researchers from the University of Cambridge, the Wellcome Sanger Institute, and the University of California Los Angeles (UCLA). The study will include 10,000 autistic people and their families.

The Spectrum 10k study will be broken into two parts: an online questionnaire that covers lifestyle and wellbeing and a DNA saliva swab that participants can mail in.
Participants can also invite biological relatives—autistic or not—to take part. Having other family members involved could help the researchers better understand the genetic and environmental factors that may contribute to autism.

The participants will also give DNA samples to the researchers. James Giordano, Ph.D., MPhil, professor of neurology, biochemistry, and ethics at Georgetown University Medical Center, Washington, DC, tells Verywell that in general, DNA extraction allows researchers to look into the possible role of genetic variation in the processes and progression of a condition.

Spectrum 10k explicitly states that the study will not look for a cure for autism and does not aim to eradicate autism. According to the study's website, the participants' data will be stored in an academic database and made available to other “external academic researchers that aim to make valuable contributions to autism research.”

Simon Baron-Cohen, Spectrum 10k's principal investigator, tells Verywell that the researchers planned to talk to the autistic community about DNA extraction and data sharing and listen to their concerns, which would then inform the study's policy.

Baron-Cohen says that “any scientist will not have access to either the raw data or the result" and that before anyone will be able to access the data in the future, the researchers will “look at each application to ensure it aligns with our values and the values of the autistic community.

Some people in the autistic community are concerned that this information will stoke the deeply-rooted ableism that suggests that it's better to not have a child at all than to have an autistic child—whether that means aborting a fetus that could potentially have autism or giving an autistic child up for adoption.

Many people in the autistic community have questioned why it's necessary to use the DNA of autistic people at all—and if it is used, how will the Spectrum 10k researchers prevent other scientists from misusing the DNA of autistic people in the future (for example, for purposes that could be considered eugenics, genetic manipulation used to improve the human race by excluding negative traits.)

Baron-Cohen says that the concern "really goes to the heart of whether should there be any genetics research at all, beyond autism. Is the autism community saying no genetic research should ever happen?”

The autism community has long advocated for more research, but after the Spectrum 10k study was announced, the hashtag #StopSpectrum10K emerged as autistic people began to voice why they are hesitant.

Lauren Melissa Ellzey is an autistic advocate and an Instructional Support Specialist at ASD Nest Support. Ellzey tells Verywell that one concern is the lack of clarity about what is being done in the research and why DNA samples are needed for it.

When asked directly if the study could be done without using the DNA of autistic people, Baron-Cohen says that "if that was the outcome of our consultation [with autistic people] then we would," adding that another step that the researchers can take "is creating opportunities for the wider debate in society, specifically about whether genetics research can be done in a responsible way.”

There are also concerns about some of the people who are involved in the study and their contributions to autism research.

Georgia Burns, who is autistic and has an autistic son, tells Verywell that she considers Spectrum 10k's main researchers to be a red flag. "Because of the theories of people like Simon Baron-Cohen, I didn’t know I was autistic until I had my son and we realized he was," says Burns. "The things he [Baron-Cohen] has posited in the past do not reflect our experiences.”

The lead of the UCLA arm of the study is Daniel Geschwind, a professor of human genetics, neurology, and psychiatry at UCLA. Geschwind guided the development of the Autism Genetic Resource Exchange. The program was founded by Cure Autism Now, which has merged with Autism Speaks—an organization that some have said prioritizes the perspectives and needs of caregivers rather than autistic people.

Jasper Williams, a self-employed coach practitioner working in partnership with Thriving Autistic, tells Verywell that they are concerned about the genetic side of the research. Williams says that he is worried that “people will start wanting to improve the genetic quality and try to find ways to eradicate or 'fix' any genetic mutation that is seen to cause autism through gene therapy.”

Other advocates have highlighted the lack of autistic involvement in the study.

Anna Ward, who works at Cambridge University (where the Spectrum 10k study is taking place), provided a statement to Verywell that outlines their frank concerns with the research.

“As the Disabled Students’ Officer, and myself an autistic person, I’d like to express my profound disappointment that Cambridge is involved in this research project," they say. "That such large amounts of money have been invested in a project which self-admittedly has no real benefits for the autistic people taking part when services for autistic people remain underfunded, is a disgrace.

In a statement published on its website on August 31, the U.K.'s leading autistic charity, the National Autistic Society, said that it "strongly encourage[s] autistic people and parents considering taking part to look into this study carefully, and consider the potential benefits and harms, before deciding whether or not to participate."

Speaking directly to those involved in the study, the statement added that "researchers must make sure autistic people are meaningfully involved at every stage of the research process, respond to their feedback, and make sure that all involved know exactly how their input will be used."

The charity plans to write to the Spectrum 10k research team to raise its concerns.

On August 27, Spectrum 10K tweeted a statement that addressed the concerns and complaints that have emerged since the study was announced.

Baron-Cohen says that ultimately, Spectrum 10k is trying to "understand the link between autism and other health conditions— for example, epilepsy or gastrointestinal pain."

The researchers "wouldn't want autism genetic research to be misused in any way" but they also think that it's valuable to include because, as Baron-Cohen says, there is the "potential to increase our understanding, we think, for the benefit of autistic people”

Going forward, Baron-Cohen says that the study plans to involve autistic people in all decisions.

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.

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.

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.

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.

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.