Content warning: Genetics, autism research, mentions of suicide.
The comments were made to two ethics committees which gave approval to the project, in submissions obtained by Liam O’Dell under the Freedom of Information Act.
Academics involved in the Spectrum 10K study, which looks to gather thousands of DNA samples from autistic children and adults to understand how biological and environmental factors impact their wellbeing, have said they hope new knowledge obtained through the project will “lead to improvements in autism”.
The objective was mentioned as part of the study’s submissions to two Research Ethics Committees (REC) – London’s Queen Square committee and Scotland A-REC – who are part of the Health Research Authority (HRA) overlooking studies in health and social care. Both committees gave their consent to the research – led by the University of Cambridge – being carried out.
In September, the study was paused following concerns from autistic people, with the researchers pledging to conduct a “meaningful consultation” for suggestions on how to improve.
When asked by the committees what the scientific justification was for this research, the Spectrum 10K team responded: “Autism is highly heritable, with twin and family-based heritability estimates between 64-92%. Autism is a neurodevelopmental condition with a marked sex-difference (3:1, male to female ratio), and high mental and physical health co-morbidities. Autism has a prevalence of around 1 to 2%, with approximately 700,000 people on the autism spectrum in the UK.”
They went on to add that co-occurring conditions such as epilepsy and learning disabilities, plus “other difficulties”, result in a “2.5-fold increased odds of mortality or 18 years of reduced life-expectancy”, with 35% of autistic individuals reporting planned or attempted suicide.
“In the UK alone, the cost of supporting autistic individuals is £32 billion annually, which is more than cardiovascular disease, stroke, and cancer combined, making it the most costly medical condition in the UK.
“In contrast, research funding for autism and learning disability combined is £4 million per year in the UK compared to £521 million for cancer. There is an urgent need to both evaluate interventions to improve clinical and quality of life outcomes, and to better understand the biology of autism to improve detection, diagnosis and precision interventions, based on gene discovery and well- defined sub-grouping.
“This study aims to accelerate our knowledge of the biology of autism. Given the high heritability of autism, it is pertinent to understand how genetics contribute to autism and co-occurring conditions, and interact with the environment to contribute to suicidality, wellbeing, and life-satisfaction,” they continued.
In another section of the submission, researchers acknowledged that analysis of participants’ DNA may identify “genetic variants associated with other conditions [such as] specific types of cancer” and “mis-attributed parentage”, but said that feedback on these issues would not be passed on to those taking part.
“As this is a research study, none of these findings will be of a clinical standard. Further, we do not have a genetic counsellor or a clinical geneticist on our team who can provide this information appropriately to participants minimising distress,” they write.
On this point, London’s Queens Square REC replied: “Whilst acknowledging the researchers’ reasoning and justification for not feeding back any genetic findings to the participants, the Committee request that the participant’s GP to be informed [sic] of any clear and significant genetic findings, always highlighting to the GP that a false positive may be possible so that test validation and follow up must always be arranged in such cases to verify the result.”
The suggestion was opposed by Spectrum 10K’s researchers, who said that “a substantial effort has been made” by their team to “consider the implications of reporting/not reporting back any genetic findings to study participants”.
They added that following discussions with a consultant clinical geneticist and two project coordinators from UK biobanks, “we propose that it is not appropriate for Spectrum 10K to feed back genetic findings to participants”, citing two reasons for this decision – that it is a “daunting challenge” and that “it is not clear which specific genes should be reported and whether a future discovery may identify a risk that cannot be known now”.
Meanwhile, the Scotland A-REC stated that forms for welfare attorneys, welfare guardians and nearest relatives (WA/WG/NR-PIS) did not “have the name and contact details of a person who is independent from the study for participants to contact should they wish to talk to someone” about the research.
“The name and contact details of an independent contact are to be added to the WA/WG/NR-PIS,” they recommended.
The recommendation was initially opposed by Spectrum 10K researchers, who said that “due to the sheer scale of the study”, they are aware that “many people may potentially contact [the independent contact] for other reasons (for example to clarify a point)”.
“To protect [redacted] time, we have requested participants to contact the study team first should they wish to get in touch with an independent reviewer. The study team will then review the request and pass the email onto [redacted],” they said.
When approached by Liam O’Dell, an HRA spokesperson echoed comments published earlier this month and said: “We’ve received a number of complaints about the Spectrum 10K study and are reviewing the issues raised and the study records to work out if we need to take any action […] We commit to a transparent investigation and will publish our findings on our website, following the same process as other complaints and concerns.
“The HRA is one of a number of bodies responsible for the regulation and governance of health and social care research in the UK. Our primary role is to protect and promote the interests of patients and the public in research.”
The spokesperson also went on to stress that the investigation follows the authority’s usual processes and is not an indication of wrongdoing.
The Spectrum 10K team did not respond to Liam O’Dell’s requests for comment.
Subject to approval from the DocumentCloud website, the form submissions and correspondence between Spectrum 10K and both boards will be available on this page in due course.
Editor’s Note: While the Spectrum 10K did not reference where they obtained the aforementioned £32 billion figure, the sum has been criticised by autism professional and speaker Ann Memmot, who took to Twitter to say the cost is “entirely invented”.
Update – 17/11/2021: The original version of this article incorrectly stated that details for an independent contact were not provided in Spectrum 10K’s information sheets for potential participants. Following clarification from the study team, we have since learned that the information was available and have removed the paragraph in question.
Document 1 – Spectrum 10K’s submission to both committees:
Click to access 1c.-iras_form_03062020_redacted.pdf
Document 2 – Spectrum 10K’s response to the London Queens Square REC:
Click to access 4c.-spectrum-10k-response-to-queries-rec-cover-letter-v1.0-09092020_clean-redacted.pdf
Document 3 – Spectrum 10K’s response to the Scotland A-REC:
Click to access 9c.-spectrum-10k-cover-letter_response-to-queries-v2.0-15092020_clean_redacted.pdf
Document 4 – Scotland A-REC requesting further information:
Click to access 10c.-20-ss-0080-iras-277521-further-information-not-complete-letter-22-09-2020_redacted.pdf
Document 5 – Spectrum 10K’s response to the Scotland A-REC’s request for further information:
Click to access 11c.-cover-letter-response-to-further-information-not-complete-v2.0-14102020_clean_redacted.pdf