On September 10, 2021, the researchers behind Spectrum 10K announced a pause on both further study recruitment and analysis of any data collected so far. The pause will be used to listen to and address concerns from the autism community.
- Spectrum 10K is the largest study of autistic people in the United Kingdom.
- For the study, researchers will use an online survey and DNA samples to evaluate the biological and environmental factors that may contribute to autism.
- Autistic people and advocates have raised concerns about how the DNA samples could be used in the future.
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.
While the research is ambitious, some autistic people and disability activists have expressed concerns about how the information on the participants will be used—now and in the future.
What Is Spectrum 10k?
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 Get Meds Info that in general, DNA extraction allows researchers to look into the possible role of genetic variation in the processes and progression of a condition.
Giordano—who is not involved in the Spectrum 10k study— says that “insight to genetic similarities and variation—when combined with assessment of environmental factors—can be important to better understanding the role(s) that genetics play in the development and expression of a diverse range of neurological, and behavioral characteristics.”
According to Giordano, talking to autistic people and their families about their experiences and pairing that information with DNA could help the researchers “further define autism spectrum disorder, its subtypes, patterns of expression, and variables that influence its occurrence and severity.”
How Will Autistic People’s DNA Be Used?
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.”
Lauren Melissa Ellzey
If they wanted us to trust them maybe they should have tried the study without the DNA first.
In theory, making the participants’ data more widely available implies that other researchers would be able to access the DNA results and use them without needing participants’ permission.
Simon Baron-Cohen, Spectrum 10k’s principal investigator, tells Get Meds Info 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.”
How Could the Study’s Findings Be Used?
A question that has been raised by many people with concerns about Spectrum 10k is—what if the study does discover genetic and environmental factors that cause autism?
“What if genetic approaches reveal that certain types or events of the environment—either during pregnancy or childhood—are strongly contributory to activating certain genes to evoke the autistic spectrum?” says Giordano.
Is the autism community saying no genetic research should ever happen?
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?”
Response from the Autism Community
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 Get Meds Info that one concern is the lack of clarity about what is being done in the research and why DNA samples are needed for it.
”If they wanted us to trust them maybe they should have tried the study without the DNA first,” says Ellzey, “And showing us what they were doing and what they might need DNA to further research.”
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.”
Criticism of Researchers
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 Get Meds Info 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.”
Baron-Cohen, the Director of the Autism Research Centre at the University of Cambridge, is also a divisive figure in the autistic community. While his most known work has long been a benchmark for testing autism in children, it has also received criticism and been cited as a potential factor in the lower rate of diagnosis in autistic girls compared to boys.
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 in 2007 merged with Autism Speaks—an organization that some have said prioritizes the perspectives and needs of caregivers rather than autistic people. However, Autism Speaks has publicly noted that it does not seek a cure for autism.
Gene Therapy Concerns
Jasper Williams, a self-employed coach practitioner working in partnership with Thriving Autistic, tells Get Meds Info 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.”
There needs to be a lot more autistic voices and representation at the table where decisions about us and our community are made.
Williams says that gene therapy would change what makes autistic people unique.
“If I wasn’t autistic, I would not have got my MSc in clinical neuropsychology, or have my job, working with a group of autistic psychologists and other practitioners,” Williams says. “I would be a completely different person and—frankly—a lot less interesting.”
Lack of Autisitic Inclusion
Other advocates have highlighted the lack of autistic involvement in the study. Simon Jay, a newly diagnosed autistic writer and performer, tells Get Meds Info that “there needs to be a lot more autistic voices and representation at the table where decisions about us and our community are made.”
Williams agrees, adding that “accessibility hasn’t been considered, many videos in promotion on social media aren’t captioned, there are no alternative versions or ways to access the material such as easy read that is easily visible, it feels more about us than for us.”
Concerns About Funding
Anna Ward, who works at Cambridge University (where the Spectrum 10k study is taking place), provided a statement to Get Meds Info 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.”
Leading Autistic Charity Response
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.
Response From Spectrum 10k
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. “To do the consultation meaningfully we have to be willing to change any aspects,” says Baron-Cohen. “We have to go into a wider consultation with completely open minds. We have to look at every one of the concerns and look to see whether adjustment can be made for each one.”
Supporting Autistic People Through Action and Research
Autistic people and advocates are not criticizing Spectrum 10k without offering alternatives. In fact, many people in the community have suggested areas of research focus that they feel would be a much better use of time and resources—both for researchers and autistic participants and their families.
“If what we’re doing isn’t working or supporting autistics, I don’t understand how DNA could make that any better,” says Ellzey. “So, maybe we could start from actually supporting the autistics that are on this earth, and figuring out how to build environments, workplaces, schools, and social-communicative dynamics that truly are inclusive and truly helps support neurodiversity in general.”