Genetic research on autism is reminiscent of Hitler? Behind the forced termination of the UK's 10,000-person project —

In August 2021, the Large-scale Spectrum 10K Research On Autism Project (Spectrum 10K), initiated by Simon Baron-Cohen, an autism scholar at the University of Cambridge in the United Kingdom, was officially launched.

The project aims to collect genetic and physiological psychology data from 10,000 autistic people and their families, trying to find the effects of genetic and environmental factors on the mechanisms of autism, while understanding some of the common barriers that affect the quality of life of people with autism.

However, the £3 million programme, the largest autism programme in the UK to date, has just been launched and has been opposed by the autistic community, particularly extreme neurodiversity. The reason is that they believe that the purpose of this study is to prevent and eliminate autism, and thus eliminate the autistic community, which is a remake of the Eugenicis movement.

Just a month later, on 10 September 2021, Baron-Cohen announced the suspension of the UK's largest research project on the genetics of autism.

Why did a large study to study the genetic mechanisms of autism cause multiple controversies?

At both ends of the autism spectrum – how people with extreme neurodifts and families with severe autism have their own opinions, and what are the advances in true autistic genetic research, and is there any operational possibility for using genetic screening to prevent and eliminate autism?

Image source: pexels.com

01

Genealogy Project and Eugenics

In the context of Western culture, eugenics refers specifically to concepts first proposed by Darwin's cousin Francis Galton in his book in 1883.

Under the influence of eugenics, the United States first passed a law in 1896 to prohibit the marriage and childbirth of some people who were considered "inferior"; Hitler once called eugenics books "my bible" in a letter, and after taking power, extended the American eugenics program to euthanize people with "genetic defects", and "T4 Operation" alone slaughtered nearly 250,000 adults and children.

Eugenics has caused a great humanitarian catastrophe in human history. Therefore, linking the 10,000 genealogy project to eugenics is a very serious accusation.

Simon Baron-Cohen twice apologized to the autistic community on behalf of the Spectrum 10K project team and stated that their research had no eugenics purpose. But backlash rose, and Baron-Cohen eventually announced the suspension of Britain's largest research project on the genetics of autism.

02

Autism is ultimately poor parenting

Or is it genetically responsible?

Since Leo Kanner of Johns Hopkins University first diagnosed autism in 1943, the pathogenesis of autism has been a mystery, whether it is "nature or nurture" (nature or nurture), whether it is caused by the environment or genes, and has been debated endlessly.

Kanner initially agreed that autism was innate, but he later argued that parenting caused autism in children, leading to the "fridge mom" hypothesis of autism that was all the rage in the 1950s and 1970s. The hypothesis is that the mother's improper parenting has caused trauma to the child's young mind, and there is no attachment, so the child builds an empty castle - "autism" to protect himself from the indifferent mother.

The "fridge mom" hypothesis has caused countless harms to autistic families. Audrey Flack, 89, is a prominent artist in modern American history, and after her daughter was diagnosed with severe autism in 1962, although she loved her child deeply, she was blamed and despised by everyone, and even her husband abandoned her.

Raising an autistic child originally requires more effort than ordinary people, and being accused of being the source of autism in children undoubtedly makes autistic parents, especially mothers, more painful.

This idea is still prevalent today, although it has long been scientifically proven wrong:

For a long time, identical and fraternal twins have been used to study whether diseases and disabilities are caused by "nature or nurture", and have a special place in the study of genetics.

In 1977, Michael Rutter, a professor of child psychiatry in the UNITED Kingdom, and his assistant Susan Flostein first opened up genetic research on autism by investigating data on autistic twins in the United Kingdom. After them, twin data from Countries and regions such as Northern Europe, Missouri, and Japan all yielded similar results to Michael Rutter's: among genetically identical identical twins, the proportion of identical autism was between 70-95%, while in genetically inconsistent fraternal twins, the data was 10-30%.

The results of the autistic twin study strongly prove that autism is related to genetic genes, and also overturn the absurd hypothesis of autism "refrigerator mother" from science, but the negative effects of this hypothesis cannot be eliminated so far.

03

Both ends of autism broad spectrum disorder

In the view of autistic families who support the Spectrum 10K study, this study, as much as the genetic studies described above, helps humans better understand autism because people with severe autism need research, intervention, treatment, and prevention.

But from the perspective of neurosocity, autism can be understood as a disability, a disorder, a difference between people, and a manifestation of neurodiversity – just like biodiversity.

In fact, neurodiversity itself is not a neurological or biological definition, but the proposal of neurodiversity is of great significance to prevent autistic people from being discriminated against, bullied and stigmatized, to establish an environment of respect, acceptance and tolerance, and to recognize the social value of autistic people themselves.

It can be said that the proposal of neurosocity has turned autism into a broad spectrum.

At one end of the spectrum, there is Ari Ne'eman, founder of the Autism Self-Advocacy Network (ASAN), a graduate of Harvard Law School who was commissioned by Obama to join the National Committee on Disabilities in 2009 and is a representative of the neuroscience of autism.

At the other end of the spectrum, there are children like Alicia Mesa's son, severely autistic. Alicia, who is active in the autism community, recently wrote in a blog post on the National Committee on Severe Autism (NCSA) that for me and my son, autism means a hopeless life, self-harm, aggressive behavior, chaos, sleeplessness, and heavy financial burdens and being alienated by friends and family.

Obviously, when people at both ends of the spectrum go to extremes, there are two completely opposite opinions in the genetics of autism.

Extreme neurodiversity people accuse studies like the 10,000-person genealogy project that attempts to discover the biological mechanisms of autism and clarify the genetic basis of autism, which is equivalent to making biological selections for autism and has the potential risk of trying to eliminate the autistic population, that is, a copy of eugenics. They argue that even if the researchers themselves do not have the intention of doing so, it is difficult to guarantee that one day in the future, the research data will not fall into the hands of some extreme researchers or politicians, causing humanitarian disasters.

As a result, as soon as the Spectrum 10K project was launched, it was strongly attacked on social media by extreme neurodiversity people, who launched a signature campaign on September 3 to call for the cancellation of the project. The event collected 5,000 signatures in 2 weeks.

Under pressure, Simon Baron-Cohen, the initiator of the 10,000-person genealogy project, issued a statement on September 4, revising the research project's goal to "improve the quality of life of people with autism.". But by September 10, he again apologized on behalf of the project team, announced the temporary suspension of the project, and said that he would have a deeper dialogue with the autistic community about the scope and methodology of the research.

One of the negative effects of the growing voices of extremely neurodiversity is squeezing the other end of the spectrum — if anyone is most eager to cure and prevent autism, it's probably the mother of a severely autistic children like Alicia.

So, after the Spectrum 10K was questioned, the parents of some people with severe autism, such as Alicia, also stood up against neurodiversity.

In the above blog post, Alicia pointed out that severe autistic people like her son are not like those who sit in front of a computer, write computer programs, and tweet. Severe autism people need research, intervention, treatment and prevention, and the launch of the Spectrum 10K project can help understand the genetic basis, genetic mechanisms and environmental factors of autism, help people understand those who may increase the risk of autism and other disorders, pay attention to pregnancy hygiene, and thus achieve the purpose of preventing autism, not the infamous eugenics.

04

Autism genetics research

Eugenics concerns and actual progress

In fact, the concerns of neurodiversity are not unfounded, and similar things have happened in history. According to herwig Czech, a historian of medicine, when Hans Asperger first diagnosed Asperger's syndrome (one of the milder on the autism spectrum) during World War II, he was instructed by the German Nazis to concentrate his own diagnosis of Aspergers to eliminate them.

Therefore, genetic studies of autism do have eugenic concerns. One view is that over-interpreting the genetic basis of autism and emphasizing the autism gene of a family, resulting in discrimination against autistic families, or even entire families, is a real eugenic concern.

In 1927, for example, in the case of Buck v. Bell, the U.S. Superior Court ruled that the state had the right to forcibly sterilize Carrie Buck, a woman in Virginia, to prevent her disabled genes from continuing.

Justice Holmes at the time famously ruled, "Three generations of a family with intellectual disabilities are bad enough"—in the genetics of autism, it is not impossible for someone to conclude that "three generations of a family has an autism gene, which is bad enough".

In May 2021, Brian Lee, a professor at Drexel University in Philadelphia, and others collected developmental disability data on families (including parents, siblings, grandparents, aunts and uncles) born in Denmark from 1980 to 2012, and used machine learning methods to conclude that families with developmental disabilities are 15 times more likely to have offspring with autism than the average family.

The study was quickly questioned, with someone pointing out: According to Lee's research, if there are any obstacles in the three generations of grandchildren, shouldn't all of them get married and have children? If the parents have a son with severe autism, shouldn't a healthy daughter talk about getting married and having children?

The study itself is not rigorous. Brian Lee picked some data from a database of genes published in Northern Europe, but was pointed out that this practical simple statistics can be used for data analysis, and the author used the fashionable "Machine Learning" to make himself look more advanced, more credible, and more cool — Brian Lee himself admitted on Twitter that the paper was rejected countless times, and finally had to write the fashionable "Machine Learning" on the title of the article Learning)" word before being accepted for publication.

As extreme neurodifters mentioned in the Project Against The Genealogy of Ten Thousand People: No one has control over who gets the data collected, what kind of analysis is carried out, what conclusions are drawn, and what kind of people are used.

But at the other end of the spectrum, we must also be clear that being questioned and worrying may be an inevitable part of the scientific research process. Compared with the brutal "one-size-fits-all" approach due to concerns about data misuse, the results of genetic research on autism should not be ignored, after all, the mechanisms of many other diseases (including neurological diseases) are also obtained by analyzing large-scale genetic data.

05

Can autism be screened and prevented?

Genetic studies of autism, including the Spectrum 10K project, are explicitly aimed at studying the genetic mechanisms of autism. In addition to the controversy over the predictability of data misuse, another core question is whether genetic screening can be used to prevent or even phase out autism.

The answer may be no.

This should start from combing through the research progress of autism genetics. Rett syndrome is a neurodevelopmental disorder that is considered a severe form of autism in the Diagnostic and Statistical Manual of Mental Disorders, DSM-IV, published by the American Psychiatric Society. In 1999, Huda Zoghbi's team found that children diagnosed with Rett syndrome had mutations in their MCEP2 genes, and the proteins expressed by MECP2 were very important in brain development, so it was deduced that the MECP2 gene variant may be Rett's genetic mechanism.

In order to further discover more possible autism gene variants, in 2014, Autism Speaks, the world's largest autism advocacy group, partnered with Google to launch the MSSNG project, which has collected genetic information from tens of thousands of people.

The Simons Foundation, a nonprofit charity, also launched the larger SPARK project in 2016, which has now collected genetic data from nearly 30,000 people.

However, these two large genetic databases did not find very clear autism genes as expected, but instead made genetic research more and more complicated. In 2015, project researchers estimated that about 65 gene variants were linked to autism. In 2018, that number increased to 102, 184 in 2019 and 255 in 2021.

Some estimate that there may be thousands of genes associated with autism. It can be understood that autism is a widespread developmental disorder, and development is a very complex process, and severe mutations in a single key gene may lead to developmental disorders, but more often developmental disorders are caused by the superposition of many single-gene variants.

Tang screening is an important genetic test in pregnancy testing, and if you compare it to Tang sieve, you will find that screening for autism is much more difficult and complex.

Down syndrome is characterized by chromosomal abnormalities, that is, there is an extra chromosome 21, if you compare a person's 20,000-30,000 genes to a book of 2-30,000 pages, Tang sieving is to check whether the book is hundreds of pages more, and screening for autism is a bit like finding typos in the book, and you don't know, whether you need to find a typo in a page of the book, or 100 pages, 1000 pages.

The latest research also found that variations in the non-coding parts of chromosomes also have important effects on the mechanism of autism. This is like you haven't finished reading the 20,000-30,000 pages of books and suddenly find that there is another whole book to read.

In addition, errors in gene sequencing remain. For example, in 2012, SHANK1 was found to be a high-risk gene for autism, which could explain the genetic mechanisms of about 0.04% of people with autism. However, in 2019, scholars at Jilin University in China did not find a correlation between SHANK1 and autism in a repeat trial.

For example, the mutation of the MECP2 gene was also thought to be the genetic basis of Rett syndrome, but recently it has been found that the mutation of CKDL5 and FOXG1 is also important for the mechanism of Rett.

It can be said that the current genetic research on autism is still in a relatively early stage, and the use of genetic screening to achieve eugenics purposes is still an imagination and concern for future possibilities.

06

No family's genetics are perfect

The research debate on the genetics of autism has a long history, and the launch of the Uk's Spectrum 10K project has undoubtedly triggered this debate to the extreme.

At present, the positive side insists that eugenics is not the goal of autism genetics research, and that understanding the genetic laws of autism through research will help the autistic community in a more targeted way.

And the objections from the perception of neurodiversity point to real eugenic concerns — the real concerns about how to better analyze and understand and apply genetic data. It's hard to guarantee that in the future, no extreme researchers and politicians will misuse the data obtained by MSSNG, SPARK and the future Spectrum 10K to do crazy things.

In January 2021, a study published in Nature Genetics by Icelandic deCODE Genetics found that identical twins accumulated an average of 5.2 differences in genetic mutations during embryonic stages, up to 100 gene variants. The number of this variant may not be very large compared to the human chromosome, but it may also be that these variants push the characteristics of autism to the limit, enough to diagnose autism.

This also shows to some extent that no family's inheritance is perfect. In the craziest eugenics era, the Triplet family in Mississippi was recognized as an elite family, but their heir, Donald Triplett, became the first person in the world to be diagnosed with autism.

It is foreseeable that genetic research on autism at present, and even for a long time to come, will not yet fully explain the biological mechanisms of autism.

concentrate:

This article was first published in ID-Intellectual on December 24, 2021 and reprinted with permission. Sponsored by the Beijing Haidian District Intellectual Frontier Science and Technology Promotion Center, a non-profit public welfare organization, intellectuals are committed to paying attention to science, humanities and ideas with the mission of disseminating scientific knowledge, promoting the spirit of science and promoting science and culture.

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Editor| Summer When the editor-in-chief | Qin Yu