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Prenatal screening and autism

The internet was ablaze last week with the news that health authorities in Western Australia (WA) have given approval for IVF clinics to ‘screen’ embryos to reduce the chances of a couple having a child with autism.

The Reproductive Technology Council will now allow certain women undergoing IVF treatment to be selectively implanted with female embryos only. The rationale for this practice is that autism is more likely to affect males than females (approximately 4 males for every 1 female), and by selecting female embryos, the chances of this child developing autism are reduced.

The West Australian reported that: “only families at high risk of having a child with autism, such as families who already have two boys with severe autism, would be considered for embryo screening”.

The reaction to this report was swift and furious, and came from all corners of the globe.

Some were concerned about the science underpinning this approach, and pointed to recent evidencethat autism may be under-diagnosed in females, and that the gender imbalance in autism may not be as skewed towards males as we once thought. These critics argue that the selective implantation of female embryos may not actually reduce the chances of a child developing autism.

Others opted for a more extreme attack on health professionals and families, branding the developments as eugenicist - a scientific discipline that advocates practises that are aimed at improving a population’s gene pool. The connotation of this label is a deeply negative one, and will be forever linked to Nazi regime, who used eugenics as a justification for the genocide of Jews, Gypies, homosexuals and others during World War II.

Prenatal screening for autism

This is an extraordinarily sensitive topic and the arguments on both sides of the debate are impassioned.

The concern about the current state of the science is valid. It is a very blunt technique to ‘screen’ embryos for autism based on sex alone. Autism is likely to be caused by dozens of gene sets, perhaps in interaction with the environment. It is also quite possible, perhaps probable, that the genetic causes of autism are quite different between individuals. There is absolutely a link between an individual’s sex and their chances of developing autism, but this is only one factor amongst a constellation of others – many of which remain unknown to us.

To a certain extent, the concern about the validity of the current science is a moot point. Despite constant hype in the recent years, there is currently no genetic test for autism. Importantly, however, this won’t always be the case.

The extraordinary developments in genetic technology in the recent past and the immediate future will undoubtedly lead us to a point, not too far from now, where we have the techniques and information to identify whether a person has autism by their genetic make-up alone.

Science is moving fast and this is a debate that needs to be had.

Pre-implantation genetic diagnosis/screening

And this is where we come to the argument about eugenics. Informed opinions are vital here, and it is important that we understand very clearly the exact technology that has been approved.

Pre-implantation genetic diagnosis/screening (PGD) is an IVF technique that occurs at the embryo stage prior to implantation. An egg from a woman and a sperm from a man are combined outside of the body (i.e., in a petri dish) to create an embryo (a fertilized egg). That embryo can then be ‘screened’ to determine whether its genetic make-up increases risk for a given disorder. If an individual embryo is found to contain a genetic risk factor for this disorder, then it would not be implanted into the woman’s womb. This technique is used in many countries around the world to identify embryos that contain a gene mutation known to definitively cause a disorder, such as cystic fibrosis, haemophilia A and Huntington’s disease.

PGD is not the abortion of a developing baby in the womb. It is the screening of fertilized eggs prior to being implanted in the womb.

Two sides of the debate

Understandably, PGD is a technique that causes concern within certain parts of the autism community. Some autism advocates argue that PGD will eventually be used to select autism out of the gene pool.

This is certainly something I would not want. I have forged dozens of friendships with autistic people and their families, and have seen first-hand the skills, talents, smiles and diversity these individuals bring to the lives of those around them. The world is immeasurably improved by their presence in it.

I also imagine how I would feel if I were a person with autism and I heard a discussion about prenatal screening for ‘me’. I imagine how I would feel if the ‘all clear’ had been given to screen embryos for short-sightedness or for extraversion, both of which are part of who I am.

Angry, outraged, and certainly more than a little unwanted.

The flip-side of the debate is that autism sometimes associated with significant disability that can affect quality of life.

It is without question that a person’s life would be improved if they were free from intellectual disability, if they had the facility to communicate more freely, and if they had the capacity to live independently.

To want a person to live without disability does not diminish in any way our love for people in these circumstances, nor their irreplaceable importance in our lives.

Only a minority of our community know the challenges (and joys) of raising a child with significant disability. It is just plain wrong for people who have never been in this position to judge the wants and desires of those who have.

A debate that needs to be had

The discussion about PGD for autism and other developmental disabilities is an important moment in the intersecting paths of science and society. It is a debate that requires considerable thought, a debate that needs to remain respectful, and a debate that must include autistic people and their families.

But the science is coming fast, and so above all, it is a debate that needs to be had.


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48 Comments sorted by

  1. Dale Bloom

    Analyst

    I would question why there needs to be so much IVF.

    The normal excuse that we are told to believe is that IVF helps “infertile couples”, but rarely is it mentioned that infertility is usually related to lifestyle, and most of the risk factors of infertility are preventable.

    http://www.ucsfhealth.org/education/infertility_risk_factors/

    IVF is a con job.

    It is also an industry, and it treats sperm as a commodity, and in particular, it treats male sperm donors as less than human.

    But whether embryos are screened for autism or something else, IVF screening is producing designer babies.

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    1. Jeremy Culberg

      Electrical Asset Manager at Power Generation

      In reply to Dale Bloom

      Dale, to an extent I have to agree. The number of claims a friend of mine processed through Medicare for IVF (and other assisted reproductive technologies) for women who, from a biological perspective, had left their run very late in the picture (35+) far outstripped the number of claims for those who would be considered to be in the optimal child bearing age range (roughly between 18 and 30).
      Given the budgetary pressures, I would argue for IVF to be restricted in its access to those who try to have children in the optimum age range, and through a verifiable history with their GP, fail to get pregnant. I'd have no issues with people in that category going past the optimal range of ages, as it often requires more than one cycle of fertility treatment to make it work.

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    2. Mike Swinbourne

      logged in via Facebook

      In reply to Dale Bloom

      As someone who is currently undergoing IVF with my wife, I would like to be the first one to tell Dale to F*ck off.

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    3. Carla Stagles

      Team Leader

      In reply to Dale Bloom

      As someone who is undergoing IVF, I would also like Dale to go troll somewhere else.

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    4. Dale Bloom

      Analyst

      In reply to Carla Stagles

      How so very droll also.

      As a sensitive and broadminded male, I look at the future, and I see IVF as nothing but a commercial industry for designer babies.

      In many ways, it is such an industry already, when a woman can choose a male sperm donor based on their photo, and a small description.

      Don't like blond hair, then flip the page and go to the next one in the catalogue.

      A most scurrilous industry, based on hype and misleading information, such as not mentioning that autism can be caused during the pregnancy, and may not be genetically related.

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    5. Paul Richards

      integral operating system

      In reply to Dale Bloom

      Appreciate the comment and common ground on this one.
      Dale Bloom wrote; "... It is also an industry, and it treats sperm as a commodity" Could not agree more in a world where everything is commodified only the vain uses of plastic surgery is more exploitative. The fertility myth perpetuated by media delaying childbirth so women can have it all is a central issue along with those that prey on those who waited in ignorance.
      Feminism gave women choice* and the freedom to multitask unrealistically. Even if some superhuman efforts are reported out of context, it does not mean delaying having children is respectful of the reality that there is a rapid fertility decline after thirty.
      But we all are free to live the illusion perpetuated by the media and those exploiting double income couples with no kids.
      ______________________________________________
      * http://goo.gl/4uaTHZ

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    6. Dale Bloom

      Analyst

      In reply to Paul Richards

      Yes, IVF is becoming big business.

      “It is the biggest float in Australia this year and was trading at a solid premium to its issue price.

      Virtus Health chief executive Sue Channon is forecasting 4 to 5 per cent growth for the company, supported by a growing female population, a demographic trend towards increasing maternal age and the increasing use of assisted reproductive services and specialised genetic testing.”

      http://www.abc.net.au/news/2013-06-16/ivf-provider-aims-for-growth/4755370

      The “specialised genetic testing” is now a human rights issue, and the question is “Who is playing God?”

      I would think the stock market price is currently acting as the final arbitrator.

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    7. Paul Richards

      integral operating system

      In reply to Dale Bloom

      Dale Bloom wrote; "... the stock market price is currently acting as the final arbitrator." Very soon if we are not careful it will be the US based transnational corporations* listed in legally plastic developing economies shaping our thinking.
      Our social development in areas of population health and growth dictated from the 'courts' of the Transnational executives thousands of kilometers away.
      After all"... Australia is under new management and that Australia is once more open for business." Tony Abbott 8.09.2013
      ________________________________
      * http://goo.gl/O8FVum

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    8. Sebastian Poeckes

      Retired

      In reply to Dale Bloom

      "Who is playing God?"

      Get real Dale! There's no evidence of any gods, goddesses or other deities.

      We're on our own! The choices we make are ours to make or not as we see fit, just as we must live with the consequences of our decisions.

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    9. Dale Bloom

      Analyst

      In reply to Sebastian Poeckes

      It is very worrying if we are on our own, particularly when it comes to “designer babies”

      Every heard of “designer labels”, merchandising, discount sales, fashion statements etc.

      Or the ultimate in speed dating, which is to flip through a catalogue looking at the pictures of sperm donors.

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    10. Sebastian Poeckes

      Retired

      In reply to Dale Bloom

      Sure, science fiction - with the emphasis on “fiction“. The way things play out in the real world is usually much more incomplete and conditional. What does it matter if a tiny minority of people want to try to determine their offspring's characteristics? Their success is likely to be partial and compromised by the myriad matters outside their control (or indeed knowledge). So long as their attempt makes them happy and they can afford it, why not?

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    11. Sebastian Poeckes

      Retired

      In reply to Sebastian Poeckes

      Frankly, I'm in favour of testing for any and all debilitating conditions for which safe tests can be devised. And then acting on the results!
      Just in passing, it's worth keeping a clear distinction in this sort of discussion of the difference between the ex ante and the ex post. The only reality - "was" and "is". Everything else is speculation.

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    12. Dale Bloom

      Analyst

      In reply to Sebastian Poeckes

      Breeding pedigree animals can be profitable for some.

      But ironically, pedigree animals often have a range of genetic illnesses, as shown in the BBC documentary “Pedigree Dogs Exposed”

      ”The programme shows a prize-winning cavalier King Charles spaniel suffering from syringomyelia, a condition which occurs when a dog’s skull is too small for its brain. It also features boxers suffering from epilepsy, pugs with breathing problems and bulldogs who are unable to mate or give birth unassisted.”

      http://topdocumentaryfilms.com/pedigree-dogs-exposed/

      “Designer babies” is simply breeding pedigree humans

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    13. Sebastian Poeckes

      Retired

      In reply to Dale Bloom

      Yep, and major stuff-ups are inevitable. But the perpetrators will just have to suck it up and their offspring will eventually be on threads such as this making the same points that Tom Fisher makes below.
      On the other hand, maybe the ultimate outcomes after all the creases are ironed out won't be a version of "Gattaca". Maybe it could be more like Wells' "Men Like Gods".

      Anyhow this is a boring exchange. I'm out of here.

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    14. Dale Bloom

      Analyst

      In reply to Sebastian Poeckes

      The creases will never be ironed out.

      Make an alteration somewhere, and it affects something else.

      Einstein couldn’t drive a car.

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    15. Andy Cameron

      Care giver

      In reply to Mike Swinbourne

      Mike, I am very much a supporter of anybody trying to have kids, and if the plumbing isn't helping, for whatever reason, give them whatever help we have available. However, like everything, when it comes to cost, we have to ration. If you can afford 150 cycles out of your own pocket, then go get 'em tiger. But I question sending messages to young women [and men] not to think about these issues [and constraints], while they are young.

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  2. Trevor Kerr

    ISTP

    Who pays for it?
    Suppose PGD technologies are developed continually in China or Korea and are taken up, under commercial license, for use in private Australian clinics. Suppose there is great demand from people with East Asian heritage to minimise a severe genetic condition that affects only their ethnic group, and they are willing to pay whatever it costs. Providing national standards for basic skills, safety and quality are met, why would government want to be involved?

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  3. John Hassell

    DBA Candidate

    While some families have the joy of growing up with an autistic child it can also cause devastation in families. I have a friend with an autistic son and the remaining children even in their adult years feel as though they were neglected because of the resources required to manage their son. Most of my friends kids are able to relate to me when i visit but because visits by friends were difficult when these kids were growing up they now have difficulty relating to others. it is not all upside dealing with disabled offspring and i cant imagine what it would be like as i extraordinarily lucky to have three healthy kids but i can see the argument for testing.

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  4. Christopher J McCabe

    logged in via Twitter

    It is almost certain that there will be a test approved for 'autism'. But that is somewhat different from a good test for autism. A good test would have a clear definition of autism. Where on the spectrum would the threshold be located and on what basis?
    What level of false positive and false negative rates would be acceptable?
    If the test is a multi-gene panel then actually the test will be a risk equation - much like a casemix or prognosis equation - such equations are likely to need validating…

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    1. Dale Bloom

      Analyst

      In reply to Christopher J McCabe

      There are also theories that most of autism actually develops in the womb or during pregnancy, and autism has minimal genetic causes.

      “But studies have found that children are at higher risk for autism if they are born early or very small; if they are in medical distress during delivery; if they have older mothers or fathers; or if they are born less than a year after an older sibling. Autism risk also goes up if a mother has diabetes or high blood pressure; is obese; is infected with rubella, or German measles; is exposed to significant air pollution during pregnancy; had low levels of folic acid; takes medications such as an anti-seizure drug called valproic acid; or makes antibodies toxic to the fetal brain.”

      http://www.usatoday.com/story/news/nation/2013/08/12/autism-labor-induction/2641391/

      I doubt the IVF industry would want those theories to become widely known.

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  5. Reinhard Koch

    Retired

    "I also imagine how I would feel if I were a person with autism and I heard a discussion about prenatal screening for ‘me’. I imagine how I would feel if the ‘all clear’ had been given to screen embryos for short-sightedness or for extraversion, both of which are part of who I am."

    This para marks my problem with this article. The author can only "imagine" how a person with autism would think, feel etc. It's a nice human perspective. But paternalistic and wrong.

    I'm a high-functioning person…

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    1. Tom Fisher

      Editor and Proofreader

      In reply to Reinhard Koch

      I suffered through much the same childhood, until by early adolescence I realised there is no problem with me, only that perpetually dumbed-down Australian society is inherently stupid.

      60 years on, aside from immigration and the influx of overseas students I see little change despite the massive increases in education funding.

      In the event I finally did marry, to a Chinese girl, and we had two sons together who as children spent as much time in China as in Australia, though in the end they…

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    2. Reinhard Koch

      Retired

      In reply to Tom Fisher

      Thanks for your reply and your lifestory.
      I don't know whether you or your sons were diagnosed to suffer a disorder somewhere on the autistic spectrum. In any case I assume you and your boys are quite intelligent, the most important precondition to muddle through life, successful though often underachieving.

      But the main problem in my view (I once worked in this field back in Germany) are the many "autistic boys" with (more ore less severe) learning disabilities. They end up often without language, with not beeing understood by carers and/or develop challenging behaviour and/or self harming.
      These people with autism are not at all fashionable like "aspergers" but only depressed and desperate.

      Having this in mind, I percieve yor recommandation "screening in favour of autistic boys" a bit cynical.

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    3. Tom Fisher

      Editor and Proofreader

      In reply to Reinhard Koch

      Cynical? In what way? My point was that, in Australia we have many many children considered autistic, or ADHD or "disordered" in some way, when the child is rather the symptom carrier for a toxic, disordered family.

      I stand by my view that the withdrawn, uncommunicative child is often the smarter and wiser of the lot, and much preferred.

      I have no access to your German experience, I can only suppose in post-war Germany, or your interpretation of the experience of "carers" there with some of…

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    4. Reinhard Koch

      Retired

      In reply to Tom Fisher

      I agree with you: there are lots of fashionable disorder-labels(ADHD, bi-polar, dislexic etc.) for children around, which just justify the use of drugs (e.g. retalin) to improve the achievement of children at school. So far so good. Aspergers and Autism have unfortunately become such labels. Not that good for they are no labels.
      Autism is a well defined mental condition (comparable to epilepsy), which comes like epilepsy on a wide range of intensities. (Autistic spectrum disorder)
      I don't work in this field anymore but to get into it a bit deeper I would suggest: Uta Frith, Autism. A Very Short Introduction, Oxford, OUP 2008, ISBN 978-0-19-920756-5.

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  6. Tom Fisher

    Editor and Proofreader

    My question, given that "autism" does not appear until 18 months or so post-natal, and is anyway characterised by impaired communication and social interaction, is concerned with why such emphasis on genetics?

    Surely a social disorder, given the one very small person surrounded by dozens of other people most of whom are very big, has more to do with the state of society than with genes.

    And more so, given that neural development is primarily post-natal and contingent upon interaction with the big world - which even for many adults remains a very scary place - the question arises not on the quality of social interaction of the infant but on the quality of social interaction with the infant.

    I'd love to see comparative studies for autism in communities with very high social interaction with new-born infants, as against the contemporary late-modern industrial West and especially pre-Spock.

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    1. Julie Leslie

      GIS Coordinator

      In reply to Tom Fisher

      Some types of autism develop in the older infant or child. Even some types where you seem to have a very neuro typical child suddenly regress. But there are other types that can be seen/noticed right from the get-go - that is new borns will show autistic signs like lack of eye contact (new borns are generally good at eye contact) and hyper sensitivity to sounds and textures.

      Mostly the austistic signs were there but it is not until 18 months do you really start to notice the lag in communication…

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  7. Jarrod Chestney-Law

    logged in via Facebook

    When someone tells me why it's actually a bad thing to select out genetic problems, then perhaps there's a basic for a discussion. All that seems to be said is "It'll mean designer babies!" And? What are the specific harms associated with that? There's also the "Well, maybe you wouldn't have been selected!" And? I wouldn't know, as I wouldn't exist. Further, someone else would who would be equally glad that they had been selected! Social inequality? We have that already. No need to perpetuate…

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    1. Tom Fisher

      Editor and Proofreader

      In reply to Jarrod Chestney-Law

      If 'I' don't exist, Jarrod, there can be no 'we'.

      By definition, nothing would exist.

      Even if it did, what sort of 'existence' would it be?

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    2. Jarrod Chestney-Law

      logged in via Facebook

      In reply to Tom Fisher

      You lack of existence (or even your lack, and my lack) doesn't mean that nothing exists, unless you're going for a solipsistic interpretation. It just means we don't.

      It's simple.

      If "you" are not born because your genes are not selected, another presumably will be if the desire of your parents is to have a child. You lack of existence will be of no more concern to you than the child that was not born because you were, will be concerned. Or of any more concern than of all the children who are not born because of a lack of fertilisation due to particular conditions.

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    3. Tom Fisher

      Editor and Proofreader

      In reply to Jarrod Chestney-Law

      Though how would you know that something exists, if you yourself have no existence?

      Your logic is entirely presumptive.

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    4. Jarrod Chestney-Law

      logged in via Facebook

      In reply to Tom Fisher

      "Though how would you know that something exists, if you yourself have no existence?"

      That makes no sense at all. Your hypothesis is easily tested:

      Can it be possible that lives that may have existed, have not come into existence. Yes (not all intercourse results in a full term pregnancy, obviously). Has reality ceased to exist fundamentally because of this? No (I put forward this inane conversation as evidence). Has the potential subjective experience of those non-existent lives never existed? Yes. But who cares? Not them (impossible to care if you do not exist), and not us (we'd all be gibbering wrecks if we despaired over potential lives never realised).

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    5. Tom Fisher

      Editor and Proofreader

      In reply to Jarrod Chestney-Law

      I'll stop after this; the conversation is indeed inane, formed entirely from your own presumptive logic, merely pointing out to you your sudden diversion away from whether 'I' exist to whether 'reality' exists.

      Again, if 'I' don't exist then 'we' cannot exist. 'It' might exist, as 'they' might exist, but how would we know much less care?

      It's not possible.

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    6. Christopher James Halse Rogers

      Programmer

      In reply to Tom Fisher

      This is an immensely strange exchange. Maybe it's conflicting definitions?

      In the hypothetical world where I don't exist - because the-foetus-that-would-become-me was aborted, or a different sperm fertilised the egg, or my parents didn't meet, or whatever - ‘we’, as in society at large still exist.

      The existence of society is not conditional on my specific neurological history.

      True, society would be *different* without my the contribution of my specific identity, but it's an odd leap from there to the non-existence of ‘we’.

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  8. Paula Durbin-Westby

    Activist

    Although the article quotes a chief medical officer who says "but the move was about selecting an embryo pre-implantation, not terminating a pregnancy," the goal is to prevent an Autistic person from being born, at some stage of life. I am not here to quibble about the exact definition of when life begins, but I will say that an embryo has at least a chance at becoming a fully-developed human being. Selection of one embryo over another (barring the embryos that are selected out because the embryo itself is not developing properly and probably would not survive implantation) is problematic, and not just for autism. http://paulacdurbinwestbyautisticblog.blogspot.com/2013/10/baby-sex-checks-for-autism-eugenics.html

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    1. Robin Bell

      Research Academic Public Health, at University of Newcastle

      In reply to Paula Durbin-Westby

      I agree with you Paula. If we can test for high probability of autism etc wouldn't we be going down the pathway that allows selection of embryos that avoid many other avoidable traits? How about the dozen or more enzyme deficency orphan diseases, heart disease, blindness, diabetes, etc. when do we get to avoiding embryos with traits associated with aggression, gender selection or political activism.
      Is the natural progression here one that would suggest to parents that if they leave childlren to later life, they can choose each child's sex and attributes?

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    2. Jarrod Chestney-Law

      logged in via Facebook

      In reply to Robin Bell

      And the fundamental problems of being able to choose the traits of your child are what? Everyone seems to claim that it's a problem without ever outlining what the specific issues are (outside of what I've mentioned in my earlier post).

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    3. Christopher James Halse Rogers

      Programmer

      In reply to Jarrod Chestney-Law

      It's worth noting that we *already* allow abortion for essentially any reason, and we do pre-natal screening for serious detectable genetic anomalies. We already de-facto have some level of “designer babies” - testing preimplantation just means that we can make the decision earlier, which is better for all concerned.

      This slope is not all that slippery.

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  9. Gayle Dallaston

    logged in via email @gayledallaston.com

    Given the trend to posthumously diagnose many great scientists, writers, etc with autism/Aspergers, and the call for difference to be respected rather than pathologised, this raises so many more issues than screening for physical disabilities.

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  10. Paul Richards

    integral operating system

    Appreciate the article and context of conversation it raises. This is a very emotive issue and goes right to the core, the DNA of our being.
    The question of terminating an unborn child should be a mothers choice, respecting her right to choose. Because we crossed this line long ago in evolutionary terms when children were able to live longer and survive regularly into adulthood and the whole birth control sequence started.
    After all there are other examples of selective breeding, not just those…

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  11. Tom Fisher

    Editor and Proofreader

    On this comment of yours, Andrew, "It is without question that a person’s life would be improved if they were free from intellectual disability, if they had the facility to communicate more freely, and if they had the capacity to live independently."

    We live in families and communities. Even with the "capacity" to do so, who wants to live independently, apart from a few hermits and those in spiritual retreat?

    We all suffer from some sort of "disability" or other, physical as well as intellectual…

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  12. Kylie Webber

    Obstetrics & Gynaecology Registrar

    I have trouble with a lot of the objections to this technique because they are from third parties dictating to couples what they are "allowed" to do with regards to their family.
    This always sits poorly with me - a couple who have children with autism might want to minimise the chance of having another. Who are we to deny them the opportunity to minimise risks within their family? We can't promise any couple a healthy, normally functioning child; but assessing and minimising risk if possible is the crux of the work of an obstetrician. It would be preferable if the science was more sound, but we often deal with incomplete science and do our best with it.

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    1. Andy Cameron

      Care giver

      In reply to Kylie Webber

      Kylie the "third parties" you deride also share another more important identity: tax-payers.

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  13. Andy Cameron

    Care giver

    I know women who have had abortions because the potential father "didn't have good genes". They meant looks/muscles/intellect. I have no problem with screening for autism. I DO have a *bit* of a problem with abortion on the basis of baby's sex. We don't live in India!

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  14. Robbie B

    Scientist

    I really do hope that a screening technique becomes available. I love my daughter very much, but, I would also love to know what it feels like to raise a normal child.

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