the other side of antenatal testing.
I think it is unlikely that we will see a genetic test for autism any time soon. It may never happen. Autism is a complex condition. We have not identified reliable biomedical markers for diagnosis. We do not know which genes, in which combination are necessary to cause autism. Nor do we understand how environmental factors influence gene expression. Genetic variations that are beneficial in one environment may be detrimental in another.
The Sickle Cell mutation is probably the most striking example. Sickle Cell Disease is painful, unpleasant and can be a killer. It is caused by a genetic mutation that alters the shape of red blood cells. Carriers have a single allele for the mutation. If two carriers reproduce there is a 25% probability that their child will be affected. But there is a 50% probability that the child will be a carrier like themselves. If only one partner is a carrier the child will not be affected. But it has a 25% probability of being a carrier.
This is important because carriers are resistant to malaria. In other words, if you live in a region where malaria is common the sickle cell trait has survival value that outweighs the negative impact of the disease. That is why Sickle Cell Disease remains common in parts of Africa but is declining in African American populations where there is no advantage in possessing the mutation. Of course the long term solution is to eradicate malaria and use genetic counselling to hasten the demise of the sickle cell mutation. But this example does go to show that the gene/environment relationship can be more complicated than we think.
The gene/environment relationship in autism is further complicated because we know that autistic traits can be beneficial and attempting to screen them out of the population may deprive us of valuable human qualities. Genetic testing often leads to abortion so there is a personal cost a swell as a more general human cost to consider when taking this path.
I have always considered that abortion should be a “a woman’s right to choose,” the slogan we campaigned under whenever attempts were made to restict the UK law on abortion. We were clear that that included the right to choose NOT to have an abortion as well, even if medical tests suggested that the baby would be born with a severe disability or disease. I have always assumed that for those very rare conditions in which the child will experience a short and painful life before dying in infancy, abortion is for the best.
But today I read an account in the Guardian by Victoria Lambert, who did undergo antenatal testing and discovered that her child to be had a serious genetic disorder, Patau’s syndrome, in which the child rarely survives for more than a few days after birth. Nine years later, she still regrets her decision to have an abortion. Indeed, reading the article, it is not clear whether or not she made the decision. Everyone around her, her family, her doctors seemed to assume that abortion was the only option.
It sounds naive but what nobody told me, then or later, was that not everybody terminates such a pregnancy. I could have gone on and carried the baby to full term. The baby might even have survived for years - albeit with a serious and life-limiting set of disabilities.
It may be that if with proper counseling she would have still decided on termination. But she would have been much better equipped to deal with her feelings afterwards. There is a charity that she spoke to later, Antenatal Results and Choices which does provide non-directive advice to parents involved in antenatal testing.
Victoria is not just concerned with her own pain. She refers to recent reports about a new and safer test for Downs Syndrome that were universally approving because unlike existing tests there was very little likelihood that a normal child would spontaneously abort. The implication being that it is not just acceptable, but desirable for parents to terminate children who are judged imperfect so long as normal children are not harmed in the process. She quotes Dr Lisa Bridle, a disability ethicist and the parent of a Downs child.
“Testing is presented as not only benign and unproblematic, but also as fulfilling responsible pregnant behaviour. Alongside this construction of prenatal testing as ‘beneficial medical advance’, disability continues to be constructed in wholly negative and prejudicial ways.”
Bridle has said: “There is an implicit message within the goals of prenatal testing that society believes that raising a child with disability is such a grave burden that it is both morally correct and medically appropriate to take expensive measures to ensure that such children are not born.
“Testing is frequently presented as a compassionate enterprise, assisting families to avoid the birth of a child with disability. Early testing is sought to avoid the difficulties of late terminations. However, earlier testing and multiple, periodic forms of testing also emphasise the importance of detecting all affected pregnancies and further entrench a consensus that the rational response to a positive prenatal diagnosis is termination.”
There was a time when perfection was an ideal to which we all aspired even though we knew it to be unobtainable. In the culture of Christian Europe we were all imperfect in the eyes of God and relied on the Saving Grace of our Lord, Jesus Christ. There was a cultural shift in the 19th Century when self improvement and perfectibility in this life were seen as desirable norms. For good or ill the process described above by Dr Lisa Bridle is a result of that 19th centure cultural shift. At the beginning of the 21st century advances in genetics present us with the prospect of implementing the Victorian dream. But as Victoria Lambert concludes this new power has serious potential drawbacks and should be used with caution.
Bigger and better antenatal testing may thrill research scientists and may be of enormous importance to those parents who are very clear in their minds about the family they want to bring into the world. But for some of us, there is a grave danger that their very ease and simplicity make life-and-death decisions too easy to take - and to regret.
Comment by Club 166 | November 2nd, 2008
I think it is unlikely that we will see a genetic test for autism any time soon. It may never happen. …
I loved this post, but think you’re very wrong with the above statement. I firmly believe that within 7-10 years there will be antenatal testing for autism “susceptibility”. Researchers will combine testing for 3-4 common genetic types common to autistics, and will sell a test based on such an imperfect selection process. People will use the test, because they have been led to fear that big bogeyman, autism.
Joe
Comment by laurentius-rex | November 2nd, 2008
Indeed I think that there will be commercially available subjective tests based upon conclusions that can be read into innacurate research.
Given that it is proven that whacko treatments and biomedical interventions bring in $ then the money is also likely to follow tests in what is an unregulated environment or raw capitalism.
Comment by Mike | November 2nd, 2008
Club 116
you may be right about the test but it would place an awful burden on families. Who would want to be told,
“You may be carrying an autistic child. We cannot tell for certain but there is a 10 to 20 percent probability that your child will fall somewhere on the spectrum but we do not know where. It could be Aspergers. It could be Kanners. Would you like us to arrange an abortion?”
There are all sorts of ethical traps along this path.
Do we go with antenatal screening and therapeutic abortion or pre-implantation genetic diagnosis?
Can we or should we try to distinguish between high functioning and low functioning autism, even assuming that this is possible?
Should potential quality of life be a factor and how do we measure thst?
Ditto potential contribution or cost to society over the life time.
Questions like these carry distasteful and dangerous implications, not only for autism but also in the wider world of disability. But they seem to follow naturally from the culture of prevention and cure that informs the discourse of many academic researchers, clinicians and parents.
You may recall a previous post of mine on pre-implantation genetic diagnosis in which the doctor involved did not appreciate the practical and ethical concerns that arose from her proposal to use PGD to test for a child’s gender if they already had an autistic child and did not want another one. Parents were supposed to increase their chances of a normal child by only electing to have girl babies.
Comment by RAJ | November 2nd, 2008
No gene that causes ‘autism’ has ever been identified, despite the almost monthly headlines in the general media of ‘New autism gene identified’. Twin studies (as interpreted by behavioral genetics) cannot differentiate between direct (genetic) or indirect (gene - environment interactions) etiology for any condition whose etiology is unknown or unproven. High concordance rates in identical twins and rapid fallof in concordance rates reported in fraternal twins is also reported in leprosy twin studies:
http://www.nature.com/ng/journal/v27/n4/full/ng0401_439.html
Leprosy also clusters within families with a sib risk ratio equivelant to autism and there is a high (3:1) male female ratio reported in leprosy. The actual cause of leprosy, exposure to myobacterium laprae was identified more than 150 years ago.
How genetic variants increase risk for a disease has been shown in HIV infection. Copy number variations (microdeletions or micro additions) increase suceptability or resistance to infection after exposure to HIV:
http://www.sciencemag.org/cgi/content/abstract/1101160v1
There is a vexing unresolved problem in autism etiolgy research that applies to both genetic and environmental studies, heterogeneity and lack of specificity and until real progress is made, even discussing prenatal testing is inappropriate
Comment by Socrates | November 2nd, 2008
“even discussing prenatal testing is inappropriate”
That would seem as naive as suggesting that there was no need to worry about Gerry until the troops were marching east.
It is up to us to make sure that the research that is happening now, or is being planned, is of benefit to society and the autistic community, and not for the benefit of a small group of powerful crypto-eugenicists, who see the value of human life in terms of attractiveness and utility (cf. Gerry)
The timbre of a article in press at Cambridge University’s Autism Research Centre was notable in punctiliously avoiding using the term “Autistic Spectrum Disorder” in favour of “Autistic Spectrum Condition”.
Comment by Socrates | November 2nd, 2008
And there’s a summary of that not unrelated paper here .
Comment by alyric | November 3rd, 2008
I thought the current directions in screening were targeted to known genetic aberrations -the sort that affect only a small percentage of ASDs and quite a few of those are definitely predisposed to poorer prognoses. So, you might get to 10% of cases. However, for autism where a genetic cause isn’t quite so obvious, which is the great majority, the problem as I understood it was that genetic deletions and/or additions were a)quite normal for humans and b) where there seemed to be some correlation, the genetic peculiarity of whatever variety was shared by an embarassingly large chunk of humans. In the latter case, an antenatal test would still be doable but would perhaps be more along the lines of if you have six of these genetic whatnots the chances of an ASD child is 20%. Now, things are gonna get interesting if we go down that road because I have half an idea that parents would in effect be selecting for very stupid children by assiduously preventing the selection of genes that might confer certain advantages. Just thinking out loud here and remembering fondly the results of just such a selection experiment in chickens. They thought they were breeding for better egglaying in barn conditions. What they ended up with were mean chickens.
Comment by Brett | November 3rd, 2008
I’m with Joe (Club 166) in believing that there will eventually be a test that can identify a susceptibility to autism in the near future (though I won’t commit to the 7-10 year time frame). The challenge we have between now and then is to help people understand that autism isn’t the “bogeyman”.
Comment by Club 166 | November 3rd, 2008
Mike,
Sure, there are a lot of ethical traps out there. But don’t believe for a minute that they won’t be discussed, then rationalized, then just be accepted.
There are a lot more Peter Singer’s out there than we may think. One does not go from Melbourne to an endowed professorship at Princeton because your views are unpopular.
I think you way overestimate the ability of prospective parents to differentiate prospective levels of functioning. Any flavor of autism will be dreaded the same, and a 20% chance will be 20% too much for them to handle.
It is much more palatable to people to have an abortion, than to have to “deal” with “problems” later thru something like the Groningen protocol.
Joe
p.s. I took some time off from my classwork tonight to web surf a little. The topic in one of my classes this week is “Quality of Life” issues. I was heartened that note was made of the disability community’s opposition to objective QOL determinations, as subjective reporting of disabled people’s QOL routinely is higher than what health care workers think it is.
Comment by Another Voice | November 5th, 2008
I sadly agree with Club 166. The percentage of probability prior to aborting will very from family to family but there will be a drop in the birth rate for children suspected of being prone toward autism. I have heard that there has been a 90% reduction in the birth rate for children projected to have Down syndrome.
Comment by Jason R. | November 16th, 2008
Does it really matter if there is even a genetic test for autism?
We should just live our lives right now trying to help people with ASD. We need to be positive in this world. We need to make sure while we are looking for a cause, we are getting everybody to believe they can make a difference in this world.
When there is finally a genetic test, no body will want it anymore.
Wouldn’t we all love this so dearly?
Think about it!!
I know all of you must think there are many people out there struggling even more than me. I would love to help out those people as well. I want to get this world moving again. There are talents out there at my level who are not moving. The others who are struggling more need even more support, but I would want to help. I am already in the medical field as an Ultrasound technologist.
Jason
PS I think after thinking about it we will all not think about the genetic testing anymore for causes. Life is about living life to the fullest, right? I am trying to, but it is a difficult path.
Comment by stumpedmonkey | December 13th, 2009
Needless to say I don?t share a lot about my pregnancy with people after remarks like that. And my poor husband wonders why I?m paranoid.