A University of Cambridge geneticist has said the institution has “probably learned nothing” from the controversy surrounding Spectrum 10K, the abandoned autism study which looked to analyse the DNA of 10,000 autistic people.
Launched in August 2021, the project from Cambridge’s Autism Research Centre (ARC) sought the genetic data to understand how genes and the environment can influence an autistic person’s wellbeing.
It was paused a month later following concerns from the autism community, with researchers committing to a public consultation with advocates to discuss the study further.
The three-stage consultation process, overseen by independent consultancy Hopkin Van Mil, concluded with the publication of the third and final report in January, at which point the ARC confirmed the study would be shut down.
The latest criticism of the project, from Professor Anna Middleton of the Kavli Centre for Ethics, Science, and the Public, was issued at the British Deaf Association’s (BDA) annual conference in Leeds on Thursday, after Liam O’Dell asked what the deaf community could learn from how the autism community mobilised around the Spectrum 10K project.
Explaining that she also “campaigned against” the study, she said: “I would argue that Cambridge University has probably learned nothing from that, and the press release that they put out after the project was stopped says ‘well other people will just do this research now’.”
In its statement on the future of Spectrum 10K which published at the start of the year, the ARC said “the science related to autism has advanced considerably” since the study application was first written in 2020, and during the time in which the project was paused.
“Whereas our intention had been to create a database with 10,000 DNA samples related to autism health research, there are now other very large health and genetic databases in the UK and internationally that have become available as a resource for autism health research.
“This means that we no longer need to collect new DNA samples as we can use existing health and genetic databases to better understand the health challenges faced by autistic people,” it said.
Middleton continued: “So I would argue that we should all join forces together. The autism community mobilised themselves very, very quickly.
“There are other communities out there who want to say something about diversity, and celebrating diversity, stopping the progress of genetics, and I think it’s really important that people join together, because one single community, it’s very difficult on your own, but if you join together, it’s a more powerful force.”
The University of Cambridge has been approached by this website for comment.
Middleton, along with partially deaf CODA (Child of Deaf Adults) Yolande Dennis, were invited by the BDA to share information on deafness and genetics after being contacted by the charity to help the organisation with writing their new policy in this area.
In a video from a workshop on genetics, shared during the pair’s session, BDA policy lead Tom Lichy was seen saying: “Prior to this discussion today, things were not clear, complicated. Now we are starting to see the bones of how the BDA policy and genetics can be developed.
“We are mindful that it needs to be simple, clear, supportive and collaborative, developed in discussion with the deaf community.”
Lichy, alongside Middleton, Dennis and fellow BDA policy lead Graham Turner, co-authored correspondence published in The Lancet in May commenting on gene therapies for deafness. writing that the proposition of such therapies for deaf children “risks overlooking the genuine enrichment that Deaf culture and language can offer”.
This came a year after a baby girl, named Opal Sandy, made headlines after she received a gene therapy at Addenbrooke’s Hospital in Cambridge to treat her auditory neuropathy – a disorder which can be caused by a variation in the otoferlin gene, which means hair cells in the inner ear cannot communicate with the auditory nerve.
However, while Cambridge University Hospitals NHS Foundation Trust claimed at the time that Opal had “close to normal hearing levels for soft sounds” at 24 weeks, and news outlets reported claimed the child had been “cured” of her deafness, an investigation by this website cast doubt on the true extent of Opal’s hearing.
Despite this, Middleton said it is “very likely” that the otoferlin gene therapy will “completely cure” the deafness caused by the genetic variation.
She said: “Otoferlin is important now because gene therapy to treat this type of deafness is now available on the NHS. This means that this type of deafness is likely to be fully cured.
“It is possible that in the future, other deafness genes can be fixed by gene therapy.”
The geneticist also explained that under the Human Fertilisation and Embryology Act 2008, “only hearing embryos are legally allowed to be implanted in the mother”.
Section 14(4) of the legislation states embryos “known to have a gene, chromosome or mitochondrion abnormality” involving a “significant risk” that it will develop a “serious physical or mental disability, a serious illness or any other serious medical condition must not be preferred” to those not known to come with the abnormality.
Middleton said: “This is the law in the UK, but is it fair? Does it suggest that hearing embryos are better? This is a big ethical question.
“Deaf people might also want to use IVF. They should have the same right to choose a deaf child – at the moment, they can’t.”
The academic added that the legislation is “due to be reviewed in Parliament” and that a “public consultation has already started”, urging the deaf community and BDA to “prepare now, before it is discussed in Parliament”.
While this website has been able to locate the 2023 review of the Human Fertilisation and Embryology Authority, it could not find a new government consultation on the body or the 2008 statute.
Middleton went on to warn that “doing nothing is a real danger”, detailing four ways for the BDA to approach the issue of deafness and genetics.
She said: “Number one, challenge how choices are offered in the NHS about genetic testing. Make sure there is accurate information about what it means to be deaf. Make sure that everyone knows that they can choose to say no if they want to.
“Number two, question NHS priorities. You could ask, why focus resources on curing deafness when there are life-threatening genetic conditions that receive limited funding or attention.
“Number three, collaborate with other groups who are also campaigning for diversity in society. And number four, connect with the academics and the scientists who are designing the technology – most of them have never met a deaf person before.”
Concluding her speech, Middleton said “if there’s one thing I’ve learned” it is that “demands don’t work, but evidence of lived experience does”.
“Demands can be ignored, but dialogue – respectful, informed, robust conversation – that’s the power that generates change.
“This is your chance to shape the future. Be proud, be strategic and engage with the BDA to help them write their policy on genetics that represents your views,” she said.