Sat, 12 Nov 2022

Find out what Spectrum 10K is really about

If you’re considering getting involved in the controversial Spectrum 10K research project you need to know what the researchers have signed up to, not just the marketing material appearing on the project’s website.

I have now received that document, eleven months and three days after having asked Simon Baron-Cohen for it. It took a further two freedom of information requests to the University of Cambridge, one review by the University’s Information Compliance Office and a decision notice by the Information Commissioner’s Office. The University of Cambridge eventually complied:

As a result of that Decision Notice, we hereby attach new versions of the information with very limited redactions in accordance with the Notice.

Here is the 97-page Spectrum 10K research application (PDF 3.6 MB) document. (You can also check the 48-page pre-submission version (PDF 11.9 MB).)

This version now includes the names and details of the researchers, the letters in support of this application, the list of biobanks involved in Genome-wide association studies (GWAS) and much more that Simon Baron-Cohen and the University of Cambridge tried to hide for reasons unknown.

Contrast Spectrum 10K’s aims and objectives as listed on p. 27 of the application:

Objective: To accelerate gene-discovery, genetic stratification, and biomarker identification in autism. Aims:

  1. To recruit 10,000 autistic individuals from the UK and where possible, their families;
  2. Where possible, to deeply-phenotype the 10,000 autistic individual (UK Autism Biobank), link to Electronic Health Records (EHRs), and provide a rich resource for gene discovery and recall-by-genotype studies in autism;
  3. To conduct a GWAS [Genome-wide association studies] and CNV [Copy number variation] meta-analysis of 100,000 autistic individuals with data collected from the UK (10K), the US (SPARK, N = 50K), Australia (N = 10K), the iPSYCH and Psychiatric Genomics Consortium (N = 20K), the Autism Sequencing Consortium (5K) and other cohorts (5K) (Autism meta-analysis);
  4. To conduct a parallel GWAS of autistic traits (250,000, UK Biobank, and other sources), and conduct a multi-trait GWAS of autism and autistic traits;
  5. To perform fine-mapping of significant loci and identify functional genes by integrating gene expression (e.g., integration of human cell atlas and BRAIN initiative databases), meQTL, eQTL and chromatin interactions data from neural tissues;
  6. To investigate how polygenic scores for autism alter normative developmental trajectories, and brain structure and function in adolescents and adults;
  7. To investigate if polygenic scores can identify sources of heterogeneity based on sex, IQ, social and non-social domains of autism, and related co-morbidities;
  8. To identify modifiable risk factors for autism using Mendelian Randomization and related methods.

with the short description on Spectrum 10K’s website About page:

Spectrum 10K aims to investigate the genetic and environmental factors that contribute to autism and related physical and mental health conditions to better understand wellbeing in autistic people and their families.

and the slightly longer one on the website’s FAQ page:

Spectrum 10K is a research study of 10,000 autistic individuals and their immediate families. It aims to investigate biological and environmental factors that contribute to autism and common physical and mental health conditions for autistic people, such as gastrointestinal problems, epilepsy, anxiety and depression. For this, we would like to obtain a saliva sample from all participants to extract their DNA and study their genetics. We also want to collect information about social circumstances, such as employment status, education, vulnerability, autistic traits, and wellbeing and physical and mental health conditions through questionnaires and links to electronic health records. Taking part in Spectrum 10K is entirely voluntary.

Among the more concerning outcomes, which can help pre-natal testing and lead to eugenics, we can read:

We will investigate the biological correlates of autism: which tissues, gene-sets, cell types, and developmental periods are enriched for common genetic risk for autism. We will further investigate heritability across subtypes, sex-specific effects, and effects of social and non-social domains of autism.

And anyone still considering participating should be aware that their DNA and health information might be shared further:

Access to data and code. This includes both summary statistics of the full GWAS which will be made openly available to all researchers, and individual level data of the UK Autism Biobank, which will be available after a short application process.


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