Katie Roche's Blog

Spectrum 10K Must Restart Now!

In the UK, there is a study called Spectrum 10K. It aimed to analyse the DNA of 10,000 people with Autism and their biological relatives. I was delighted when the study was announced and I signed up as soon as I could. I take part in many studies and the majority are interviews about my experiences of having Autism. There’s nothing wrong with this type of research, but these studies can only show so much. Which is why I was so angry when Spectrum 10K was stopped on account of negative views from the “Autism community”.

I spent weeks writing this post. I’ve had a lot of thoughts and it hasn’t been easy to put them all down in words. This post was originally going to refute the criticisms from the Autism community and urge people to sign up. But then the news came that the study was being paused. I have emailed the Autism Research Centre expressing my disappointment in their decision and urging them to reconsider. Someone replied that they would pass my comments onto the researchers. I don’t think my email alone will make much difference. But I thought it was worth doing.

The study is headed by the scientist Simon Baron-Cohen of the University of Cambridge. Baron-Cohen does numerous media interviews and publishes articles and books aimed at the general public. He is controversial for his work on gender and Autism. He argues that Autism is caused by an overly-masculine brain. Baron-Cohen has also written more generally about the concept of gendered brains. The online Autism community tends to be politically liberal. So he’s not a popular figure within the community. I agree with them on this point. I have found his explanations of gendered brains to be simplistic and lacking empirical evidence. He persistently over-states his findings. He also is anti-cure as he claims Autism is almost always accompanied by special talents. Something I’m very dubious of.

But my biggest issue with Baron-Cohen is his creation of the myth that people with Autism are innately gifted at mathematics and sciences. He’s perpetuated many inaccurate stereotypes. Consequently, he has stopped people receiving the diagnosis they need. Countless people must be undiagnosed because they aren’t particularly good at maths. Even though they have enough symptoms to warrant a diagnosis. Although I disagree with many of his views, I still thought it was worthwhile participating in the study. I knew many other scientists were involved and that they would input the data into a database that other organisations could use. I hoped that the study could make significant advances in understanding Autism and related conditions.

Indeed, there are a plethora of reasons for doing this study. First, it could improve diagnosis. Instead of long waiting times and subjective assessments, people could just have a blood test that told them if they had Autism. It would also help distinguish Autism from other conditions. Some children initially diagnosed with Autism turn out to have more serious conditions. Some are progressive or even fatal. For older children or adults undergoing assessment, genetic testing could help distinguish Autism from psychological disorders like Anxiety or a personality disorder.

Even better, imagine if we could test for Autism as soon as a baby was born? There is already a new-born spot test, where a small blood sample is taken to check for some genetic disorders, such as Sickle Cell Disease. If Autism could be diagnosed at birth or early life, it could make a huge difference. It could enable parents to use early intervention. A recent study identified a type of intervention that was beneficial. And when the child starts education, they can get support from the start. Diagnosis can be a long process. Often, Autism isn’t diagnosed until the child starts school. That leaves children without the additional support they need, compromising their education.

As well, knowing what genes cause Autism would help understand the disorder. For example, is Autism underdiagnosed in girls and women? We don’t know. It would solve the controversy once and for all if we could say a person definitely had Autism. It would help scientists to understand what causes different symptoms too. Which might help with other neurological disorders.

Furthermore, genetics can tell us the prognosis for an individual with Autism. For example, a lot of people with Autism also have Epilepsy. In many cases, this doesn’t develop until adolescence. If we knew why this was, the test could predict the chance that a child would develop Epilepsy in the future. Someday, doctors might even be able to use this information to help prevent it.

Even though there are clear benefits to this study, it has come under fire from the online “neurodiversity” community. Some criticisms are fair. Others are not.

The lack of information given by the research team was my biggest issue with the study. I’d say it’s the only legitimate criticism. I got early access to the study because I had signed up for research updates from the Autism Research Center. The email inviting me to take part told me not to talk about the study on social media “yet”. I didn’t like being silenced and I don’t understand why they said it. I think it was a misguided attempt to ensure they made a big impact when they did the media blitz. But it sounds like there was something to hide. It hasn’t got any better since the main study began. Since pausing the study, they haven’t explained what’s happening. When will it recommence? It’s frustrating. Especially for a group of people who struggle to cope with uncertainty. The study’s Twitter and Facebook feeds consist purely of responses to criticism. If the researchers had told people how it was going, the public might have felt more positive about the study. The lack of public engagement gave the impression that nobody trusted it. And why so quiet since? An odd tweet, email or Facebook post every week or so wouldn’t go amiss.

Privacy also is a big concern, and understandably so. Genetic information is unique and can tell a lot about a person. It can identify where someone has been, who their family are and so much else. But these concerns aren’t unique to genetic research. With every study, there is a risk of privacy being breeched. Albeit a remote risk. For instance, there’s a chance that the server gets hacked, or a wayward researcher leaks the data. But these things rarely happen. And it’s hard to identify someone out of 10,000 fields. The type of information it tells us is that X number have Y characteristic. But it’s unlikely you could pick out an individual unless you were looking for them specifically.

With qualitative studies, (studies that use interviews, focus groups and other types of data that can’t be quantified) the risk is bigger. This type of research provides more details about a specific individual, so they could be identified if you knew them. Yet nobody seems to complain. Some neurodiversity activists even argue that only qualitative studies should be done on Autism. But if privacy is a concern, then qualitative research is no better than this type of study.

Spectrum 10K has also been criticized for accepting people who can’t consent in their own right. These include children and people with severe or profound intellectual disabilities. It’s not ideal. But studies are done on children and people with intellectual disabilities all the time. There is always a balance to strike with benefits and risks. What’s ideal and what’s realistic aren’t the same thing. Ideally, everyone who participated in every study would be able to consent. Realistically, people can’t always give consent. Yet the benefits of including them override the risks that come from participating in the study. Especially for people with intellectual disability. This population is under-represented in research and consequently, not much is known about them.

It would be useful to find out why some people with Autism have intellectual disability and others don’t. In addition, people with intellectual disability benefit the most from research. This group faces the most challenges and needs the most support. Plus, those with little or no speech can’t be interviewed. How else can we learn about them? Also, a lot of children with Autism have genetic testing anyway. Many have already taken part in the 100,000 Genomes project or the Deciphering Developmental Disabilities study for instance. These projects haven’t faced the same backlash even though they study a similar population. And nothing horrific has befallen the participants either.

The Autism community is also unhappy that the study won't accept self-diagnosed participants. One of the biggest problems with the Autism community is that it’s led by people who often have self-diagnosed. It’s not surprising that they are upset that self-diagnosed people aren’t eligible to take part. Self-diagnosis is rife within the Autism community. They are convinced that Autism is extremely under-diagnosed. Some argue that the diagnostic criteria are too narrow. Others say that they don’t need a formal diagnosis because they know themselves best. It puzzles me how someone can be so confident they have Autism without having been diagnosed. Even more so how they can declare themselves to be the voice of Autism. How can they speak so boldly about a condition they might not even have? It shows how disparate the online Autism community is from actual people with Autism. This is one way that social media Autism is nothing like real-life Autism. In any case, the study has to take this measure. I don’t see why it’s unreasonable. Pretty much every study into every disorder does this. It’s important to make sure the participants actually have the disorder being studied or else the results will be inaccurate.

What about finding a cure? The online Autism community is against finding a cure. But I’m a person with Autism who wants a cure. I doubt there will be one soon. The brain is a complex, delicate organ. So neurological disorders aren’t easy to fix. However, the voice of people who support a cure is drowned out by a vocal minority. Even if the study were looking for a cure, science is a long way from that stage. Scientists know the genes that cause many diseases. Yet very few genetic disorders have been cured. Gene therapy might be a possibility in the future. But there are two big obstacles. First, the gene must be applied directly to the brain. This is being trialled for some neurodegenerative conditions. But it’s a risky procedure. Second, gene therapies that are available at present have helped conditions, but not cured them. Although, if something could alleviate Autism rather than curing it, that would still be a good thing.

Are studies into genes a form of eugenics? Many in the Autism community think so. The word “eugenics” is tossed around a lot, but it doesn’t always mean what people think. Eugenics posits that some people are genetically superior to others. That there’s some kind of “master race” with good genes. Those with good DNA are cleverer, more athletic, healthier and more law-abiding than those with bad genes. For the benefit of society, those with good genes must have more children, while those with bad genes need to be stopped from reproducing. That way, good genes become more widespread and bad genes die out. Ultimately, this would produce some utopia. The world would be full of people with genius-level intelligence, who lived long, productive lives and where crime, poverty, addiction and other social ills were vanishingly rare.

To achieve this, people deemed unfit to reproduce were often sterilized or sometimes euthanized. As well, people with “good” genes were encouraged to have more children. For instance, there was a sperm bank in California that only took donations from Nobel prize winners. The purpose of the bank was to bring more intelligent children into the world. It has now shut down. In Nazi Germany, we all know about genocide against people Hitler deemed unworthy. However, women who were considered to be from the Aryan race were encouraged to have large numbers of children. Women who had large families were given medals and boys in the Hitler youth had to salute these women. Nowadays, few people support eugenics. We’ve all seen the atrocities it has led to across the world. Ethically, there are two serious problems with eugenics:

1. It uses coercion.

Under eugenics, people with certain disabilities or other “bad” characteristics were banned from marrying, forcibly sterilized or even killed. Making someone be sterilized is a violation of their rights and liberties. And killing disabled people en-masse without their explicit consent is immoral. (I would argue that euthanasia, where a person is helped to die to alleviate serious, irrevocable suffering, is morally acceptable). But it’s different when someone makes a choice. For instance, a person with a heritable condition might choose not to have children in case they pass on their condition. They might use an egg or sperm donor or adopt a child. Or they might use pre-implantation diagnosis with IVF to ensure their children are born without the condition. Alternatively, a woman may undergo amniocentesis to diagnose disorders in utero. It’s ethical to allow people to make those choices. If the government had ordered them to do these things, it would be a different matter. Being forced to do something you don’t want to do isn’t the same as choosing to do something. We’re all entitled to make choices about our lives. Eugenics takes those choices away.

2. It was scientifically unsound.

Early eugenics was based on pseudoscience. These ideas derive from an earlier historical period where genetics wasn’t well understood. Most eugenics was practiced before modern DNA tests. Since that time, many scientific advances have been made. We know about the patterns of inheritance for many disorders. A person can consult their doctor about the risks of a disorder being passed on to their offspring and make a decision about having children based on this. We now know that some conditions are partly genetic. For example, eugenics programs often targeted people with Epilepsy. We now know that Epilepsy is more common in people with Epilepsy in the family, but that it’s not totally genetic. Many people with Epilepsy have children who don’t have Epilepsy. So, stopping people with Epilepsy from having children didn’t necessarily reduce rates of Epilepsy.

More importantly, we also know that there are no genetically superior humans. We all carry genetic disorders. Nobody has perfect genes. For example, someone who is disabled might have higher than average intelligence. Or someone who is athletic can also be a criminal. Furthermore, social issues like crime and poverty aren’t genetic. They can’t be solved through eugenics. More to the point, these measures haven’t worked. Genes mutate. And some things are caused by environmental factors. The world is a no better place for eugenics. But curing Autism isn’t eugenics. No more so than curing any other disorder. Ironically, it was Baron-Cohen himself who first described curing Autism as eugenics. Indeed, Baron-Cohen talks a lot about mathematical and scientific abilities in people with Autism as a rationale for avoiding genetic testing. But isn’t that exactly what eugenicists think? By saying “we can’t get rid of Autism because it would eradicate genes associated with mathematical and scientific talent”, Baron-Cohen made the Autism pre-natal testing argument about the value of a person’s life. In any case, many people with Autism aren’t good at maths or science. And most mathematicians and scientists don’t have Autism. But he made the myth. Now, people are quoting his own research back to him.

“Listen to Autistics” is a phrase said so much in online Autism communities. But it doesn’t really mean listen to Autistics. It means "listen to a tiny group of radicals who often don’t have Autism". It’s infuriating that this small group yields such disproportionate power over the Autism community. What about the 4000 people who signed up in the first week? Do our voices and views not matter? Autism isn’t sunshine and rainbows for me. Or for many others. But we aren’t listened to. Indeed, the most vocal members of the Autism community aren’t necessarily the most representative of people with Autism. It’s time to listen to the silent majority.

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