Genetic Testing for Autism as an Existential Question

By Neuroskeptic | January 16, 2016 5:37 am

A special issue of the journal Narrative Inquiry in Bioethics features perspectives from various people who have experience with genetic testing. Many of the articles look interesting – with titles such as I Had Genetic Testing for Alzheimer’s Disease Without My Consent. But my attention was drawn to one piece in particular, called A Sister, a Father and a Son: Autism, Genetic Testing, and Impossible Decisions. The author of the article has chosen to remain anonymous.

The piece recounts how one autistic woman, the author’s sister, was faced with a very personal ethical decision.

narrat_inq_bio

Anonymous writes that “my older sister has autism, and didn’t speak until she was 5 years old.” Growing up, she was “fiercely protective” of her sibling, but also “knew what it had cost” her parents to care for and advocate for her. Therefore, when she became pregnant with her first child, being conscious that autism often runs in families,

I had already accepted the possibility of having a child with autism, even though my deepest hope was to have a healthy, normal child. In truth, my husband was more sanguine about having a disabled child than I was. This was no accident – I had the lived experience. But I had also married him in part because he was kind to my sister, a simple test I had used to assess peoples’ characters since the elementary school playground.

But then, the possibility of genetic testing was raised. Maybe it wouldn’t be blind luck after all. During her prenatal medical checkup, a genetics team suggested that her sister have genome-wide microarray testing. This might, they said, reveal a mutation which could explain her autism.

This was something of a long shot. The majority of autism cases are not associated with any currently detectable genetic cause. But if her sister did carry a mutation, it might in theory provide a clue as to possible treatments or preventive measures that could benefit the new baby (if, for instance, there was a metabolic deficiency.) It would also allow Anonymous to test the DNA of her fetus to see if it would carry the “autism” gene.

Anonymous writes that she is herself a physician with a background in genetics, and that she was somewhat skeptical of this whole approach:

How much of the time were these extensive batteries of tests simply “fishing expeditions” without a clear sense of what they were looking for or why?

Nonetheless, she decided to consult with her sister.

I decided to put the question to my sister, Maria. Although she is autistic, she is of high intelligence, and holds a bachelor’s degree in biology herself… When I told her I was pregnant with her first niece or nephew, she was thrilled. I explained that the medical geneticists who consulted on my pregnancy were hoping she would consent to a test.

Maria was excited to be an aunt soon, and was willing to do what she could to help my baby – even if what she was helping with was to avoid her own condition. I wasn’t surprised, but also hadn’t been sure how she would respond.

She is high enough functioning to know some of what she’s missing in life, and has longed her entire life to be “normal.” If she could save her niece or nephew some of the pain and awkwardness her condition had caused her, she was willing to help.

On the other hand, Anonymous assured her sister that abortion was out of the question:

Maria is adamantly opposed to abortion on grounds of both religious belief and concern that eugenic terminations could limit support for the living disabled. There is also a personal reason. She was born before Roe v. Wade, and a very cruel person once told her that if abortion had been legal, her mother would have had one.

So Maria had the test – and it turned up nothing. Somewhat anticlimactically, the microarray showed no abnormalities. So the fetus was never tested for Maria’s “autism gene” because no such gene was found. Anonymous concludes the piece by writing that her baby has now been born, and that, although he is still very young, her son shows no signs of autism.

What struck me about this story is the way in which the prospect of the genetic test confronted Maria with a very personal decision: will you do something that might help prevent someone else becoming like you? Which amounts to: would you want someone else to have to live your life? Isn’t this very close to the ultimate existential question: all things considered, would you wish to live your life over again?

ResearchBlogging.orgAnonymous Two (2015). A Sister, a Father and a Son: Autism, Genetic Testing, and Impossible Decisions. Narrative Inquiry in Bioethics, 5 (3), 226-228 PMID: 26752577

CATEGORIZED UNDER: autism, ethics, genes, papers, select, Top Posts
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  • Sam

    Temple Grandin said–if we do away with the genetic variations that cause autism, there will be no more engineers. Every human being has value. If you want to have a puppy, buy a puppy. If you want to be a parent, you should be willing to accept whoever God sends to your family. Genetic testing cannot guarantee having an “easy” child. There is no guarantee that your genetically typical child won’t become paralyzed due to a tragic accident or end up with a debilitating disease. Having a child is not like going shopping for a car. We love people for who they are, no matter what.

    • http://nonsignificance.blogspot.com non_sig

      I don’t know… it’s a difficult topic (in general), but for your example: Parents also don’t wish their children have a accident or end up paralyzed. If their was a cure for paraplegia I think most parents would try to make it available for their children if they suffered from it. That doesn’t mean, that they don’t love their children, but they want their childrens live to be good. Although many people can cope with being paralysed live is certainly easier being not paralysed. That doesn’t mean that those who are paralysed should not be supported.

      However, a lot of autistic people in the internet (I don’t know about elsewhere) are opposed to treatments for autism. Quote: “know I’m an #ActuallyAutistic advocate, I don’t want to be cured and I will expose any one trying to do so.” They also (sometimes) blame parents of autistic children for pointing out the difficulties. Quote: “When you’re #ActuallyAutistic this stuff feels like being slapped in the face. I’m #NotYourStruggle – I’m #autistic” If there were no struggles it wouldn’t be a disorder. I don’t understand why not name it like that.

      Of course I think it’s (almost always) false when people are forced into a treatment they don’t want.

      But the question about genetic testing more complex than that of treatment… I think a lot of people don’t want to get children because they wouldn’t want them live their life. Whether they
      are autistic or not… I think it is very understandable if parents want to have children, but wish to make as sure as they can that the children don’t have a disorder. However, the question also is, if we want to live in a society like that. Because it might lead to a society where increasingly small derivations from the norm (or an arbitary standard) are seen as unwanted or ill. (I think this is already the case… but that tendency might increase.) On the other hand, of course parents don’t want their children to suffer from anything. And, I don’t know, but wouldn’t it be also unethical to let (individual) people suffer (from any hypothetically preventable or cureable disorder/disease) for the sake of a more diverse society?

      • Robert B. Waltz

        This is a debate that is very black-and-white — ironic, since black-and-white thinking is very autistic! Is autism a handicap? Yes. Is autism an asset? Very often, the answer to that is also yes — Temple Grandin is right, very, very many great people have shown clear signs of autism.

        Speaking for myself as an autistic person — and one who was not diagnosed until age fifty — I don’t want to be someone else. I have paid a high social price for my condition, but without it, I would not have the gifts in music and mathematics and language (yes, language!) that I have. So I would not trade.

        Of course, the equation is different in every case; relatively few people with autism have received as many benefits as I have. But if we would spend our time and effort on better supports, we would probably find that far more people with autism have something to give, and fewer of them would be such burdens. To reduce it to a question of whether autism is “good” or “bad” — or to assume that autism is simply a disaster or that it needs no treatment — is a disservice both to those with autism and those without.

        • http://nonsignificance.blogspot.com non_sig

          I don’t know… I don’t think it’s about how many “great people” show signs of autism (or any disorder). It’s about how much of an obstacle a disorder is and whether or not it can be overcome… imo…

          I agree that this also depends on the society. But in this one I think some people have it (a lot) easier than others … it’s unfair, but I think it is like that. (To be happy/contended/ok, I’m not speaking about achievements). And since it’s unlikely to change much in a positive way in one lifetime I find it understandable when parents want their children not to have disorders (or characteristics) that likely make life more difficult.

          That doesn’t mean it’s right (I don’t know what is right!) and it might have negative effects on society. But I think parents think about their children not so much about society.

          And, I would want to be a different person, if I could. (I also have an autism-diagnosis, but I don’t know if it’s correct, since most people (in the internet, as I said I don’t know about elsewhere) say they want to be like they are and I wish in many aspects that I would/could be different. (And also you never know if diagnoses are correct.)) For example, I know that my parents had work/trouble with me and of course I would not wish that to them! That doesn’t mean that I think parents should not support their children or anything like that. I just wish mine had not had to, because it affected them negatively. (And I would not want to do that to my parents.) And of course that’s not exclusive to autism, but I just think that life is easier for people without any disorder/factors that impair life… on average.).

          I hope I’m not misunderstood!! I don’t say (at all) that people with autism can’t be/would not be value able members of society or “great people”. But I think for the individual it matters to be able to get through life in a “good/ok” way (I don’t know how to say, because of course everyone has some problems and of course life is not always easy). It would be great if society was different (and if there was more support or understanding). I’m not saying people with autism are not ok the way they are (or need to chance in order to fit in or something). But I wish I was/could be different.

          • Robert B. Waltz

            I’m going to reply to this relatively briefly, because people like short comments better than long. :-) But two things. First, if you have an autism diagnosis but don’t trust it, you should find an autism specialist to make the diagnosis. They can diagnose much more reliably than psychologists who aren’t specialists — you get a feeling for autism after a while. (My guess, based on your writing style, is that you are. The way you connect topics is autistic. But that’s not enough basis for diagnosis!)

            The other comment is that I think you’re missing the point. Autism is very complex, and usually (not always) a severe burden on parents. But it is false and foolish to assume that it is a burden for the children. To avoid having a child because the child might be autistic and autism is horrible is WRONG. Autism is NOT horrible. It’s just autism. People with autism can be gifted and happy and successful. And people without autism can be utter failures. There are many reasons not to have children. The risk of autism should not be one of them. If a parent isn’t up to caring for an autistic child — is that parent really up to caring for a neurotypical child?

          • http://www.facebook.com/Kieseyhow KieSeyHow

            I don’t think that autism is necessarily a problem. sure there are some people who are debilitated by it, but autistic people invent almost everything and drive the technology progression of society. The average person is not just intelligent enough to do this. So, perhaps you should leave things as they are.

      • Michael Crosby

        well, obviously there`s a cure for paraplegia resulting from car accidents, let`s say… stop making and using cars. it`s simple, really. no more cars = no more paraplegia from car accidents. paraplegia cured. of cars are much more useful than a few cases of paraplegia, so we keep using cars. it`s the same with autism. the disabled autistics are very small part of all autistics. we don`t cure autism because the value of autism is much higher than a few disabled autistics. simple solutions are great, aren`t they ?

      • http://www.facebook.com/Kieseyhow KieSeyHow

        Sure there are some people who are debilitated by ASD, but autistic people invent almost everything and drive the technology progression of society. The average person is not just intelligent enough to do this. So, perhaps you should leave things as they are.

  • http://www.mazepath.com/uncleal/qz4.htm Uncle Al

    will you do something that might help prevent someone else becoming like you?” Nonsense. Human Resources is bioethics: “will you allow something that might help prevent someone else not becoming like you?” The answer is always “NO”!

    Technological civilization is conceived, created, constructed, and conserved by high autists (Asperger’s syndrome). Ethical intervention to polish human existence cauterizes societies’ bottom 10%. Fumigate our prisons, end all centrally-mandated charity, never rehabilitate personal vices. All people are perfect in every way. Culls must initiate their own unaided societies re post-1500 emigration to the New World.

    • Talos

      I WOULD do something to prevent someone becoming like me. Absolutely. I WOULD use genetic means, it that’s what it took, to prevent them being like me (I inherited lower back issues. Painful, fairly debiliting lower back issues). I would certainly remove any gene variants responsible in my makeup from an offspring in vitro or in utero if it were possible. There’s no such thing as a valuable disc degeneration. I would also have no problem altering my child to prevent them developing Alzheimer’s, Huntington’s, etc, if such genetic interventions were possible. Dementia has no upside, no benefit. Eliminating the genetic component would be no problem to me and would be preferable to merely treating the symptoms later in life. THAT is merely to serve pharmaceutical company profits.

  • LOH_SM

    If medical science is advanced enough to gene-test for evil and having potential traits making the would-be human very inhumane like, say HITLER, would the question of ethics be debated or would you let nature take it course lest the gene-test could lead to a positive-false result ?

    In another word, should we take concern that the gene-testing maybe wrong, in-accurate or misleading thereby killing an unfortunate foetus or we are too righteous and that may lead to the deaths of millions ?

  • Sensory Swim®

    Dear Anonymous,
    When you said “But I had also married him in part because he was kind to my sister, a simple test I had used to assess people’s characters since the elementary school playground.” you hit it right on the head.

    As much as we are thrilled that your child is not showing any signs of autism so far, we also know that you would be the kind of person who would be compassionate enough to raise a kid on the spectrum.

    Best wishes to and yours!

  • Pingback: What keeps us from understanding who we really are? #SurfaceYourRealSelf | Surface Your Real Self()

  • PRice

    My comments in the form of a question: what keeps us from understanding who we really are?
    http://surfaceyourrealself.com/2016/01/17/what-keeps-us-from-understanding-who-we-really-are-surfaceyourrealself/

  • http://www.facebook.com/Kieseyhow KieSeyHow

    The motivation behind this? The most brilliant and intelligent inventors and threats to the status quo, comes from those resting within the ASD spectrum, and their ability to manipulate and capture the minds of the average person. It makes sense to discover and monitor these people as soon as possible, such is the insecurity of the CEOs and government running the system.

    Everything is about money, and power, not ethics and empathy.

  • Erik Bosma

    Abilities/disabilities… it’s all a matter of personal perception and cultural norms, isn’t it? Some cultures celebrate some ‘disabilities’ and some don’t. If the culture’s past, if a disability meant not being able to escape in time, then it was a liability and the perception of liability would be carried up through the generations until it became a cultural norm of unknown origin. Yes, it is very much an existential question but not about one living their life but a culture living their history over again.

  • Talos

    I suspect that the only real way to prenatal test for autistic tendency would be for epigenetic tests, NOT simple genetic testing. I strongly suspect autism disorders to be associated with epigenetic markers, not simple genetic mutations or variations.

  • Talos

    I would have no problem with a couple terminating a pregnancy (or using an available molecular biological intervention if existed) to prevent a severe autistic child being born. You cannot FORCE people to have children, let alone force them to take on any child they are simply not willing to deal with. While many forms of autism are, in fact, rather beneficial, the most severe forms, as with most variations, is not beneficial. Not to the child, not to the family, not to society.

    Whenever I look at this I think, “if I were facing that circumstance” and my answer is ALWAYS it is NOT for outsiders to make decisions for me. Not for outsiders to force their personal, religious, cultural views upon me.

    I would have no problem with having a Temple Grandin – a truly functional person. I would have a problem having a severe form that is essentially shut-in, locked within and unable to deal with the world around them. I would also have no problem “boosting” the intelligence of my child in utero/genetically if that were possible, or improving their ability to stave off various diseases, be better tuned physically so as to be stronger, faster, more agile. Not for sports, I don’t give a fig about sports, but to make them simply better able to navigate anything life throws their way. If this were all possible (it isn’t…yet) then I would do it regardless of the rulings of outsider bioethicists or special interest groups or religious organizations. Their personal views are of no interest to me because they aren’t MY personal views and I tend to resist any form of coercion.

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Neuroskeptic is a British neuroscientist who takes a skeptical look at his own field, and beyond. His blog offers a look at the latest developments in neuroscience, psychiatry and psychology through a critical lens.

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