Autism, Genetics and Research Ethics

The latest edition of Communication, the members magazine of the National Autistic Society contains two interesting articles on genetic research.

GENE GENIE by Professor Anthony Bailey

The first  article, by Professor Anthony Bailey of Oxford University’s Autism Research Unit, seeks to summarize recent developments in genetic research. Considering the complexity of the subject and the nature of his audience (mainly parent members of the NAS like myself with no specialist scientific training) he does a remarkable job in under a 1000 words. I  find that those experts who can write coherent and concise accounts of their work for a lay audience are usually the ones with the soundest grasp of their subject matter. Professor Bailey is no exception.

He starts by emphasizing how little we know.  This cannot be stressed too much. There have been a spate of recent reports in which journalists, and some scientists who ought to know better, have hyped up the latest genetic “breakthroughs” as harbingers of an imminent cure. But all we have so far are “candidate” genes. This is not to diminish the work of the scientists involved. Genetic research has been marked by a massive collaboration of scientific and funding institutions. It is detailed and difficult work that is only now beginning to accelerate with access to improved technology.

The most likely candidates are genes on the long arm of chromosome 7 and on chromosome 2. Again, caution is necessary. These are not genes for autism. They are potential genes for autism susceptibility. There is no single gene for autism. According to Professor Bailey, “the risk of developing autism seems to be conferred by the interaction between at least 3 or 4 genes (and possibly many more) and there were no clues as to what these genes might code for.”

When a gene is finally identified scientists will still want to learn more about what it does, when it is expressed and which other genes it interacts with. They will also try and identify the environmental factors at work. These factors need not be “known neurotoxins.” They may be neutral or even beneficial in the absence of particular genetic combinations.

[OK I realize that some of my readers may regard autism as a beneficial outcome. I look forward to your comments so that we can explore the nuances of meaning around accepting autism and welcoming autism.]

Our knowledge of genetic factors in autism leans heavily on work with families where more than one sibling is affected.  The evidence from twin studies is that autism is a highly heritable condition. So it makes sense to look at families where this is most obviously the case when seeking the genetic causes of autism. But many parents who read Professor Bailey’s article will have no obvious genetic traits of autism in their families. A new study may help to explain this. Dr Michael Wigler is a molecular geneticist at Cold Spring Harbor Laboraory in New York and he has just published a pilot study suggesting that spontaneous mutations in the parents’ sperm or egg cells may be the cause of autism in a majority of cases. Prometheus discusses this in more detail on his blog, Photon in the Darkness, and provides a link to Dr Wigler’s paper.

This all goes to show how complex the science is. It is increasingly unlikely that we will find a simple genetic cause or even a simple genetic predisposition that relies on an obvious and preventable environmental trigger for autism. I am fascinated by the science of autism but it is not going to provide any immediate answers or easy fixes. Social policy will have a greater impact on the quality of life for autistic people in the foreseeable future. This is why public attitudes to autism are so important – a point addressed in the second article.

CHOOSING THE FUTURE by Dr. Phiippa Russell

Dr Russell is a Disability Rights Commissioner and Disability Policy Advisor to the National Childen’s Bureau. She wrote about the ethical implications for genetic testing and research. She began by pointing out that alongside the potential health benefits of genetic science there is also the danger that “the primary focus of new genetic technology might not be on improving the quality of life and healthcare for vulnerable individuals. Instead, it could be lead to eugenic attitudes, which devalue disabled people and encourage discrimination in employment and other areas of life.”

There are some areas where genetic screening ought to be non-controversial. But what if it leads to discrimination in obtaining employment or essential life insurance? Dr Russell has an interesting take on this. She argues that women with a known genetic susceptibility to breast cancer may acually live longer than other women who are less likely to have regular mammograms and more likely to have their cancer detected later, when treatment options are less effective.

This kind of logic may appeal to actuaries. But most people will react negatively to the idea of disability, especially if it is a genetic disability that is  predictable and, disregarding David Hume,  therefore ought to be prevented. Dr Russell thinks that “If we accept this view, then we risk

  • reducing embryos, foetuses and, in consequence, individuals to their genetic characteristics, thereby reversing the progress made concerning human and civil rights for disabled people
  • increasing responsibility (and social exclusion) for familes with disabled children, where the disability was related to genetic predisposition
  • ignoring the multiple talents of disabled people and the real contribution which they make to family and society.”

Genetic science will advance, regardless of the ethical dilemmas it creates. People with disabilities ought to benefit from these advances. But according to Dr Russell “there are challenges in avoiding unnecessarily negative pictures of quality of life and value to the local community. “

She does not mention autism by name but goes on to say, “Many readers will be both aware and proud of their disability. It is unique to them and carries benefits as well as some challenges.”

Dr Russell ends with his quote from an unidentified disabled man.

“Disabled people themselves must join the debate about the ethics of genetic testing – you cannot close Pandora’s box once it has been opened, but the challenge is in using new information proactively to improve quality of life, not to shut down someone’s work and other opportunities because of poor understanding and low expectations. Knowledge is power – but it is essential that it is controlled by the person directly affected and used for his or her benefit, rather than used by others as a means of social exclusion.”

This is one reason why next month’s meeting on the Politics of Autism is so important. Anyone who can attend should ring up and book a place now.

According to Communication “The NAS is keen to hear the views of members and others on this complex issue … email with the words ‘gene ethics’ in the subject line.” The full articles in Communication are only available to NAS members.  If you want to join email

I am greatly encouraged by the NAS  inviting this sort of debate. I do urge people to respond.

9 thoughts on “Autism, Genetics and Research Ethics

  1. I look forward to your comments so that we can explore the nuances of meaning around accepting autism and welcoming autism


    I welcome autism simply because I welcome my existence. Yeah, I think I don’t only accept it. But acceptance by itself is a good thing.

  2. Thank you for the links to the articles and to your cogent discussion of them. The public’s understanding of autism and genetics seems very limited and simplistic—especially notions that there is a sort of “one to one” relation between a gene and autism—and one hopes that more understanding can be fostered.

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  4. There is no debate.

    Bailey, Monaco et al are dyed in the wool villains.

    The NAS is also irresponsible at times, someone has to say it, and that is my responsibility to do so.

    I would go on in more detail why I think encouraging debate rather than leading it is irresponsible, but I think the NAS needs to take a stance on the potential evils of genetic research, to ensure that bad social policy does not ensue. In that they should be allying with other major disability organisations to ensure that the world of Gattaca does not come about.

    The NAS Communication mag, allows too much space for articles like this when there are human rights issues to be debated and autistic people willing to initiate that debate. If the NAS were as committed to putting forward our views as they believed they would not allow the real people space in Communication, people with a real interest in the outcome, not academic hacks like Bailey whose interest in the real autism so far as I have been able to make out is Zilch.

    Does he even realise we are human, and more than the sum of chemicals under a microscope?

    You know at the end of the day Bailey and the others still know no more than I knew before they started.

    In fact I could probably have told them before that it is mathematically complex and clouded by the social, economic and political constructions regarding the autism diagnosis.

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  6. Larry

    you seem to be saying that there is a moral choice to be made between autism acceptance and support for scientific investigations into autism.

    Those who choose science are villains? I am sorry. I cannot agree. Is this related to your politics of autism meeting? I will not be able to attend. But I would welcome a chance to read a fuller exposition of your ideas.

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  8. From what I’ve read of psychiatric genetics, it’s really complex. It’s not like you have a certain version of a gene and therefore a particular trait. A few mutations have that clear an effect, but with many, it’s more like that allelle, in combination with these allelles in a dozen other genes, has this effect, but in another genetic context may even have the opposite effect. It’s confusing.

  9. Ettina

    you are absolutely right. It is complex and, to non-scientists like myself, it is confusing. That is why I am always suspicious of people who claim certainty in their beliefs.

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