Spectrum 10K
Research type
Research Study
Full title
Spectrum 10K - Common Variant Genetics of Autism and Autistic Traits (GWAS).
IRAS ID
266324
Contact name
Simon Baron-Cohen
Contact email
Sponsor organisation
Cambridgshire and Peterborough Foundation Trust and the University of Cambridge
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
Autism is a neurodevelopmental condition diagnosed in 1 to 2% of the population worldwide, with approximately 700,000 people on the autism spectrum in the UK. It is often diagnosed with other co-occuring conditions, including intellectual disability and epilepsy, and is associated with increased levels of mortality, unemployment and suicidal behaviour. There is a need to understanding the biological and environmental contributions to autism, co-occuring conditions, and wellbeing in autistic individuals.
To this end, the Spectrum 10K study is a re-contactable resource that aims to recruit at least 10,000 autistic individuals diagnosed by a qualified professional and, where possible, up to their third degree relatives to identify genetic and environmental factors that contribute to autism and related conditions. This will help us to accelerate understanding of the biological and environmental factors that contribute to the well-being of autistic individuals. As part of this, we also want to understand the effect of the recent COVID-19 pandemic on the autism community and how it is impacting health and wellbeing of autistic individuals.
Participants (or consultees) will register for the study online at the Spectrum 10K study website. Once a participant (or consultee) has read the participant information sheet and completed an online consent form, they will be asked to complete a mandatory baseline questionnaire. They will also be asked to complete an questionnaire about COVID-19 (optional). They will have the opportunity to complete further optional questionnaires straight away or later if they wish. A DNA saliva kit will be sent to participants and they will be asked to provide a saliva sample and return it for extraction of their DNA and analysis.
Lay summary of study results:
Spectrum 10K was launched in August 2021. A decision was taken to pause the study in September 2021 when some concerns about the study were raised by some autistic people and following discussion with our funder, sponsor and ethics committee.
A large and deep independent consultation with the autism community was carried out, a report from which is available on our website alongside a blog from our research team here:
https://gbr01.safelinks.protection.outlook.com/?url=https%3A%2F%2Ftrack.pstmrk.it%2F3ts%2Fwww.autismresearchcentre.com%252Fprojects%252Fspectrum-10k%252F%2FNBTI%2FreTAAQ%2FAQ%2F283fbef9-47a3-461d-8267-c2f9d462ecac%2F1%2FUa1P0FXVcT&data=05%7C02%7Cqueensquare.rec%40hra.nhs.uk%7Caabcc02aeb9f4262ee8908de12460c30%7C8e1f0acad87d4f20939e36243d574267%7C0%7C0%7C638968289219422889%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=lS5Sbb2%2FsTLWzwMBPe1govkpJGXy%2F5BhihMIQRURGzk%3D&reserved=0Spectrum 10K remained paused until January 2025, when the decision was taken to close the study following discussion with the study funder Wellcome, the study sponsor and ethics committee.
It was recognised that there are now better ways to conduct research to understand the physical and mental health of autistic people. In particular, we no longer needed to collect new DNA samples to carry out research to improve the health of autistic people.It was acknowledged that since the grant was written over five years ago, science had moved on and now there are other very large health and genetic databases in the UK and internationally that are available as a resource for autism health research.
All NHS sites were withdrawn from the project and closed. All study participants received ethically approved notification outlining the reasons for study closure and confirming that all participant data (including saliva samples) would be destroyed and all participant study accounts would be deleted.
The study database has been closed and all study data and samples have been destroyed. Follow-up correspondence was sent to all study participants confirming destruction of all data and samples including back-up data.
REC name
London - Queen Square Research Ethics Committee
REC reference
20/LO/0873
Date of REC Opinion
9 Oct 2020
REC opinion
Further Information Favourable Opinion