Tuesday, July 25, 2006

Thoughts on Prenatal Genetic Testing

One of the latest controversies within the community of those touched by autism is that of prenatal genetic testing. Some fear that this testing will lead to the termination of pregnancies of ASD fetuses, with the result being in effect the elimination of future generations of potentially ASD children. As such, they oppose the development of such tests, and are campaigning to oppose their use. I am not opposed to such tests, or any prenatal genetic testing, for a number of reasons.

When ‘we’ were pregnant, as part of the routine ultrasound process we had a nuchal translucency test, plus the fetal nose scan. The results were negative. We also had the AFP/Triple Screen test. The results came back positive. We received the call to come in for counseling.

During the counseling process we were informed that the results of the AFP/Triple Screen indicated that our baby had an elevated risk of having Down Syndrome. The risk was not ‘through the roof’, but it was definitely there. The next step would be to conduct an amniocentesis, i.e. the definitive test. We were informed that the reported risk of this test was fetal death in up to 1% of cases. How did we want to proceed?

Over the next week, we did some research on Down Syndrome and discussed the risks and issues, and came to the conclusion that we did not want any further testing. The Bear was originally a twin, and we had already lost the other baby at around 11 weeks. We did not want to risk losing her too. We had learned enough about Down Syndrome – on our own, not from counseling - to know that we would also be happy with a Down Syndrome child, and that was the end of the matter. Admittedly, there was a bit of nervousness around delivery time (‘acceptance’ does not necessarily equate to ‘preference’), but my wife delivered a healthy baby who was perfect in every way.

For what it is worth, I am not comfortable with abortion. I can’t say that I would never opt for this choice, but I can say that whenever the possibility of having to make the choice has been anticipated the answer has always been ‘no’. And when the potential existed for having a Down Syndrome child, we rejected the choice, and would do the same for the possibility of having an autistic child.

But, the fact that I am not comfortable with such a choice does not mean that I would deny it to others. I do believe that reproductive choice is a right (at least in the first trimester and possibly early in the second, cases of 'moral hazard', and in cases where the mother’s life is at risk), even if it is a right that I would not choose to exercise. Thank you, but I do not need comments on my lack of morality for feeling this way, if you hold a more anti-abortion viewpoint. From what I can gather, my views are solidly within the majority, regarding the rights of others to choose (although that is not why I hold them), and the purpose of this post is not to debate my views on abortion per se, but rather, to discuss prenatal genetic testing and its consequences.

If ‘choice’ is a right, then it is a right that exists regardless of how comfortable I am with how others choose to use it. The rights of others (e.g. reproductive choice, freedom of speech, freedom of assembly, freedom of worship, democratic rights) are not conditional upon my approval of how they are exercised, but only on the condition that they are exercised within the bounds of the law. I do not have to like how others exercise their rights, any more than others have to like how I choose to do so. But I am required to tolerate them.

Beyond reproductive choice, most prenatal testing has potential benefits that are often overlooked. Testing can lead to increased medical intervention during the prenatal period, better preparedness (e.g. learning) on the part of parents and caregivers, plus time to come to terms with one’s feelings and learn acceptance. As one mother wrote in an Epinion that I highly recommend reading,

"I would ask you to at least consider the benefits of prenatal testing. Knowledge is indeed power. By knowing about potential problems, you give your child the best chance at a safe and healthy delivery and start in life."

In the case of autism there may or may not be any interventions that one can take – depending on beliefs - to lessen the risks or severity, but preparedness and adjustment are both valuable in their own right, as is the knowledge to plan early intervention, increased stimuli and interaction, etc.

Some would argue that this early ‘knowing’ can be postponed until the post-natal period (specifically to rule out eugenic abortion), but if genetic testing is available at all then it will be available on a prenatal basis. Arguing that it should only be available on a post-natal basis is an unrealistic and unrealizable limitation. And the delay pushes acceptance and preparedness into this same period, delaying what for many will be a necessary period of adjustment (even if we don’t always want to admit that adjustment is often required).

Another reason I do not oppose prenatal genetic testing is that I think that testing is inseparable from genetic research. Once science understands the genetic basis for an outcome, I don’t believe that there is any way to prevent the development of a genetic test, even if such a test was not the primary goal of research. And an understanding of the genetics of autism is valuable in its own right, leading to greater understanding, better and earlier diagnosis and intervention, and amelioration of the negative consequences of autism (e.g. communications issues). Some have argued that autism may be a social construct, but some of its disabilities are very real, as may be some medical consequences (i.e. the suggested co-morbidities). To the extent that they are not a required part of autistic thought (and since not all with ASD have them, presumably they are not ‘required’) then they are legitimate targets for intervention and amelioration.

Finally, I’m not sure that a definitive genetic test for autism will ever exist. As I discussed in an earlier post, in MZ twins, if one is ASD then the chance of the other also being ASD is 60% (92% for the broader autism phenotype). The fact that the concordance rate is not 100% suggests that some other factor or factors may also be involved. Thus, even a positive result on a genetic test does not mean that autism is a foregone conclusion. This is another reason to continue genetic research, to discover the limits of genetic (and epigenetic) predictability.

Instead of attempting to ban prenatal genetic testing, I would recommend that it should instead be regulated - not in terms of availability, but rather in terms of requiring the availability of counseling and support. As I mentioned above, when we had to choose, we researched the issue ourselves. Our counseling was along the lines of ‘you have x number of days to decide’, rather than ‘here’s what the future may hold’. I would recommend that genetic testing should include the option of counseling as a matter of course, not just on prenatal options, but also on the joys, trials and tribulations of raising special needs children, letting people know that a) life goes on and b) can be very rewarding. We would have found this information helpful. Probably one of the biggest issues parents encounter is fear of the unknown. Good counseling can help mitigate some of that fear.

One of the arguments used against testing is that after the development of a Down Syndrome test, 90% of detected Down Syndrome fetuses are aborted. The fear is that the same would happen with an autism test. To me this is a defeatist argument. Through education of society, counseling of parents, progress in terms of interventions to mitigate the negative consequences of autism, improved teaching methods and methodologies to help autistic children learn, and proof of better outcomes, we should be able to change that number. Rather than attempting to deny parents a test that is coming anyway, or deny them their legal right to choose because we don’t like how they may exercise it, a more worthy goal is to provide them with hope and the likelihood of a better outcome.

But this is just one person’s opinion.


Wade Rankin said...

... ‘acceptance’ does not necessarily equate to ‘preference’

Boy, that one just kind of jumped out at me. This is a great post, Ian.

María Luján said...

Thank you for a very adult and equilibrated opinion on a very difficult and delicate issue.
María Luján

Shawn said...

Very thoughtful Ian. Knowledge is indeed power. The controversy here stems from fear of what others might do with the knowledge and power. I'm not sure how things would play out with a test for autism, but I think your predictions are probably very accurate.

My wife and I faced a similer delimma during a pregnancy that was classified as 'high risk' for about a half dozen reasons. We made the same choice as you. The 1% risk was not worth the potential value of being more 'prepared'.

Ian Parker said...

Hi All,

Thanks for the nice comments.

This is a difficult issue, because it involves risks, potential benefits, and ultimately the potential for a choice based on one's own core moral beliefs.

While we might not like the choices some may make, I think that as a society we would be worse off if we attempted to legislate away one's right to make them (in terms of both testing and choice). I lean much more in the direction of informed choice (i.e. truly understanding all sides of the issue) and moral suasion.

Kristina Chew said...

Ian, you bring together a lot of issues, ethical and philosophical and gut-wrenching personal, here. I would rather that we not live in fear of prenatal genetic testing (and so legislate it away) but keep on trying to educate and inform the public to "do the right thing."

Or, we are not trusting ourselves and our posterity to make some real decisions.

Do'C said...


You've addressed a difficult subject from several angles and communicated your perspective clearly. Nicely done.

kyra said...

wonderful, thoughtful, and thought-provoking post on a tricky and emotional issue, ian. thank you for that.

Ian Parker said...

Hi Kristina, Do'C, and Kyra,

Thanks for stopping by and for the nice comments.

Joseph said...

Good post, but I had missed it earlier. My opinion is that freedom of choice combined with freedom of information will soon need to be limited for ethical reasons. Consider cloning. Regarding outcome of autistics, it's not really possible for autistics in general to have good outcome when parents are told the children are incapable, deficient or in need of institutionalization; and when "outcome" is measured as "how well you do things NTs like doing". Let's think back to a time when the "outcome" of women or blacks was very poor.

Ian Parker said...

Hi Joseph,

Thanks. I don't agree that freedom of either choice or information should be limited in this case, although I share the same concern over ethics.

To my mind we should be aiming at improving both autistic outcomes (which I believe can be done ethically - improved teaching methods that work to autistic strengths is one example on which I think we could both agree) and public understanding of what autism is and is not.

Anonymous said...

Beautifully composed, and very well thought out. I comment your honesty, openess, and modesty.