Gathering autism DNA; dis/benefits, ab/uses, and a question of knowledge.

There have been a fair few local news stories lately, about the new project here in New Zealand to gather and study the DNA of autistic individuals. The research project is currently actively recruiting people and seeking much-needed monetary donations. (You can find out more about the project and how to register here.)

By Lawrence OP, via Flickr

My initial reaction was a disinterested interest; I found the project interesting at an intellectual level, but I quickly dismissed the idea of involving my own family in the study. After that I largely put the issue out of mind, until one of my Facebook page fans asked whether I was aware of the study and what I thought about it, while she let me know that she personally had concerns.

After that I decided to reach out personally to the researchers, to ask them whether they’d be interested in answering some questions and addressing some concerns, that I could then share on my blog. I haven’t yet received any sort of reply or even acknowledgement of my email – which in itself is fine, they no doubt have floods of emails to work through – but I still want to write this post rather than wait on their possible reply for an unspecified amount of time. (If they reply later in time, I will provide an update.)

Part of the reason I initially dismissed the study in terms of my own family’s involvement, is because we’ve taken part in these sorts of things before, and received only pain without any real benefit (pain of a blood test, waiting on appointment times, etc). The benefits that come from taking part in these sorts of long-term information gathering exercises is often so far in the future as to be of no personal benefit to the person or family contributing, and there is no doubt from what I’ve heard from the researchers themselves, that this is a very long-term project that would take many years to harbour any even potentially useful results. Ultimately it may just be a matter of improved knowledge, that itself does not directly lead to any improvements in interventions.

Of course knowledge in itself is not to be dismissed, that knowledge can be used to better understand and thereby better address various hardships of autism. It could be used to create more accurate diagnostic systems with associated flow-on benefits. It could be used to better predict how autism will impact an individual’s adulthood. It could of course also be used – as many fear – to isolate autism markers that could then be used as information relevant to an abortion, as we currently see with Down syndrome. The abortion issue brings with it a scary raft of associated concerns of what it would mean for those who live with autism already; will they come to be seen as people who should have never existed too?

However, I am still strongly of the view that knowledge itself is a good that should be pursued, the ethics of what is done with that knowledge is always an important issue, but all the unknown goods that could come from it should not be thrown away in fear. We may find there are different types of autism, where some are natural variants which bring great benefits on the whole, while other forms come about by some sort of environmental insult that causes the individual to go through otherwise avoidable and serious suffering. If we can’t even see the difference between the types, we’re doing both versions a huge disservice.

Considering my personal views then, why wouldn’t I let my son and my family go through a bit of short-term pain and annoyance, for these grand potential benefits? The answer, for me at least, is that I have no right to put my own lofty ideals above my son’s present well-being. In the calculus of benefit versus disbenefit and my obligations as a mother, this is not something we choose to take part in. As an adult one day, that is a decision he could make for himself, and I respect and understand why many autistic adults can and will choose to donate their DNA to such studies. I completely understand why caregivers will volunteer their children too; I don’t want to come across as attacking those positions. For us though – for me, and for my son at this age – it is not the right thing to do.

If there had been public reassurances and open consultations to address these concerns, others would not be so strongly against the study. Or if there was little pain and much immediate benefit involved with providing the DNA. But neither assurances can be realistically given; you simply can’t promise data that will become public won’t be misused, and (as I understand it) you can’t provide high benefits for those involved in studies because that too is considered unethical (think of issues around paying people for their blood and organs).

I make the right decision for us, you need to make the right decision for you. There should be no pressure or fear involved in that decision-making either way.

I would be interested in hearing whether you are going to or would take part in a study that gathers “autistic” DNA, and why.

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15 Responses to Gathering autism DNA; dis/benefits, ab/uses, and a question of knowledge.

  1. Hilary says:

    There was a great discussion at the recent Asia Pacific Autism conference in Adelaide about any kind or neuroscience or genetic research around autism. One of the keynote speakers, Ari Ne’eman, who is an autism self advocate, and on President Obama’s National Disability council said we have to be very clear that all such research has eugenic implications. For this particular project I would like to see the paperwork around the ethics of the collection of the DNA. We have had too many instances in research when people’s genetic material has been used for purposes they haven’t consented to or even been patented by businesses. (Such a travesty is outlined in the story The Immortal Life of Henrietta Lacks. I’m sure the current researchers have only altruistic intentions but safeguards need to be in place to prevent future use that could be negative for people with autism.

    • Very well said. Thank you for commenting Hilary.

    • M.J. says:

      At the risk of ruffling some feathers, Ari Ne’eman has been calling eugenics for any and all sorts of research into autism for years now. For example, he brought it up at an IACC meeting in response to an economist’s report of the expected lifetime costs associated with autism –

      I think the economist’s answer to the suggestion of eugenics is spot on –

      “I don’t want to insult anybody but I think that’s a ridiculous statement. The point of this work is to point out the lost opportunity costs associated with people who have a health condition that hopefully can be prevented and I am not meaning that the folks should be prevented from being born. I mean that they should be prevented from experiencing that condition.”

      I think a similar answer is appropriate, even with respect to research into the genetics of autism. Yes, it is possible that a prenatal genetic test for autism could theoretically be developed but –

      a) The point of such research is not to prevent people from being born but rather to find a way to help them and improve their lives.

      b) As a practical matter, it is increasingly unlikely that there will be a simple genetic test that will be able to accurately detect autism. The existing research into autism shows that there is no “autism gene” or even a small set of “autism genes” but rather a whole wide range of subtle genetic changes that span almost the entirety of our genetic code. Which makes the entire question of eugenics moot since you can’t systematically eliminate genetics that don’t exist. A much more likely scenario is that, again based on current research, a test for specific prenatal conditions will be developed a la how neural tube defects are detected.

      c) Even if an “autism gene” were to be found, it could lead to treatments for the condition. For example, look at the recent research involving cancer drugs and Angelman and Prader-Willi, both of which are “genetic”. Researchers have found that is it possible to change how a gene is expressed (functions) through the use of certain drugs –

      d) I don’t know how things work in NZ, but in the US at least there are some pretty strong requirements that all research provide explicit details on exactly what will be done with any and all materials that are collected. I have been involved in a couple of studies now and all of them had very detailed consent documents that spelled out exactly what was going to happen and how the information that was collected could be used.

      e) I know this is going to be unpopular, but lets assume that a prenatal test for autism is developed, that it can accurately detect autism and has few false positives, and that is is possible to make the test cheap enough to be widespread and safe enough for common use, is such a test necessarily immoral or a bad thing? This is partially an academic question since it is unlikely that such a test could be developed and, and the same time, the question is relevant. I honestly don’t know where I would stand on the issue if such a test were developed but, after going through one very long and emotional weekend when we thought that our unborn child had a neural tube defect only to find out that we were having twins instead, I don’t think that the question has an easy answer. It is very easy to stand on the sidelines and pass judgement but it another thing entirely to be in that situation yourself and I don’t think that most people would know what they would do until they were in that situation themselves.

      I think the bottom line here is that safeguards are important but at the same time the potential benefits of research into the genetics of autism far outweigh the potential risks of misuse.

      • A very well-considered response MJ. Personally, I’m very open to a range of arguments on the issues around genetic testing and the use of the resulting data; it’s not something I know a lot about, but is something I am very interested in learning and hearing more about. Ari Ne’eman is a strongly divisive rather than amalgamating figure in the autism world (from what I’ve encountered), it is important to acknowledge that – despite his high profile – he does not appear to represent a majority view in the autism community on the value of genetic testing for autism.

        As always, I appreciate your thoughtful comment.

      • Lars says:

        “I am not meaning that the folks should be prevented from being born. I mean that they should be prevented from experiencing that condition.”
        This rephrasing still fails the Jew test.

        • Lars, that presupposes knowledge on the very nature and future interventions for autism. If it is possible to avoid a child getting autism without having any impact on their birth – for example, in cases where people find a particular avoidable environmental impact causes some perhaps severe forms of autism – then there is a possible clear division between the autism and the individual. It is conceivable at least that there may come a time when certain drugs or interventions can be so effectively targeted to some forms of autism, that the individual will no longer suffer the severely negative impacts that autism may be having on their life.

          To compare this to Judaism presupposes far too much that we do not know about autism, and makes a very strong judgment call on how society and individuals should see autism in terms of identity (a point that is still hotly debated even among autistics).

          Two of my earlier posts are relevant to the point I am making here, one on the (mis)use of analogies:

          And one on the question of using autism as identity:

        • M.J. says:

          Along the same lines as what A&O said, autism is not a race, ethnic group, or religion therefore the “jew test” does not apply. Autism is a developmental disorder where there are distinct symptoms in two/three domains (communication/social, repetitive/restrictive behaviors).

          Think of it this way, is it possible to have a set of identical twins were one twins is of a specific race but the other one is not? It is possible for a religion* but not possible for a race or ethic group. You cannot have one identical twin who is a member of one race while the other is a member of a different race because race is an inherited genetic condition.

          However, when it comes to autism, it is somewhat likely (20-40% chance, depending on a number of factors and the particular source of the figure) that one identical twin has autism while the other doesn’t. Therefore autism cannot be the the same as an ethic group or race because it is not determined solely on the basis of birth and/or inherited genetics.

          * The Jewish race/religion is somewhat unique in that it is both a religion and a ethic group/race with particular rules for acceptance. To be “Jewish” (ethnic and religion) you (typically) have to be born to a Jewish mother as well as be a member of the religion. If your father is Jewish but your mother is not then you will have a harder time being accepted by the religious community. Most other ethnic groups and/or religions don’t have this mixture of parentage and religion.

  2. Angela says:

    Thanks for a thought provoking post. Like you we have been part of various research projects before and I realize now that I should have thought more about participating rather than blithely accepting. Subsequently I have studied Ethics and the main principle for me is “How will this research help the participants?” The website and the PR person I spoke to this week do not address this concern for me. How will this benefit ASD people and their community? It’s all very well for them to have the best of intentions but once published the information can be used for other in- utero testing as you mentioned, will American children with the DNA expression no longer be able to get medical insurance as they “may” develop an ASD? Or will pharmaceutical companies recommend a drug for a two year old to combat problems that may arise like OCD? Our large extended family most certainly share the same DNA expression but that includes a whole range of wonderful meaningful people from our son with ASD to his University educated cousins. Unless they come up with some valid reason for this research, I am not signing up for this one.

    • Some excellent thoughts and considerations there Angela, some of which had simply not occurred to me (and by the sounds of it, hadn’t occurred to the researchers either).

    • nostromo says:

      I hope that this research and research like it will uncover the causes and perhaps lead to solutions for the co-morbids that are specifically linked to Autism.

      Thngs like seizures, sleep problems, gastro problems and intellectual disability. Some of these are debilitating, for example my son is quite disabled and will be dependant upon others all his life, and I know of children with seizures so severe they have regressed to where they can no longer even walk.

      I think once the mechanism(s) behind Autism are better understood, then the mechanisms behind these comorbids will be too.
      I think it’s at least one very valid reason to research and understand Autism better, one that will hopefully one day benefit ASD people and their families.

  3. nostromoswife says:

    I guess results of this research could be used in a eugenic way but only by individuals which becomes a personal choice, just as it is now if a family learns that their unborn child has Down syndrome. I think society would find state-imposed eugenics abhorrent and unacceptable. In the US they passed a bill called ‘Genetic Information Nondiscrimination Act’ to counter insurance companies using DNA information to discriminate. Maybe private enterprise will find a way to make or save money from the results of research such as this. For me, on balance, the possible benefits to people with autism and their families outweigh the risks of learning more about it.

  4. Lars says:

    The interesting part is the research that is not done. For instance, with respect to executive function, why does everyone assume that lists and “structure” is the way to go? Executive function is known to involve a number of brain faculties, and – depending on the individual’s brain – there may be more helpful therapies. My own pet theory is disturbed perception of time – and I know that this has been researched in relation to ADHD. Why not in autism?

  5. Funny you are weighing in on this at the very time I am looking into having genetic testing done on Ben. Ten years ago we couldn’t afford it, when the autism resource center in South Carolina noted neurocutaneous signs and suggested testing for Fragile X, Neurofibromatosis, and Tuberous Sclerosis. We had to sign a waiver that the present genetic testing facility could use the info gained from his genes for anything they wanted.(“I voluntarily donate any and all biological samples and/or medical records to Medical Neurogenetics, LLC research and development program. Should my donated biological sample(s) or medical records lead to the development of a commercial product or products of any kind, Medical Neurogenetics, LLC will own the product including but not limited to all licenses, patents, royalties, value, or income of any kind.”)

    I disagree with Ari although I understand what he is saying. We have Downs as a predecessor in that respect. Still, I want to be able to give my child the medical attention he may need. Twenty percent of autisms are caused by currently tested for conditions, for now, and that number may grow to be much higher because of research. While in most cases there is little science can do, not in all. I think I am willing to take that chance, even if it is a 5% chance of making a difference. (I made that number up.)

    My husband is dead set against it. I want to know if there is a possible medical concern (NF and TS have them). AND Ben WANTS the testing. I’m not sure why.

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