Thursday, May 10, 2007

Genetic Testing and Abortion

On the front page of Wednesday's New York Times appeared an article about some potential consequences of the wider availability of low-risk Down Syndrome (DS) screening for pregnant women. Such screening can routinely be made available to women who fall outside of the "over 35" age group whose chances of carrying a DS child are much higher than they are for younger women. The reason that pregnant women under 35 have not ordinarily been screened in the past is that amniocentesis was, for a long time, the only method of testing for the mutation that causes DS, and an amniocentesis carries a risk of miscarriage that -- for younger women whose odds of giving birth to a DS child are exceedingly small -- outweighed the benefits of testing.

Now, however, reasonably accurate screening is possible early in pregnancy by means of two blood tests and an ultrasound examination, each of which is a relatively ordinary and low-risk event for pregnant women in the U.S., regardless of whether or not they are screening for genetic disorders. We know that approximately 90% of the women who learn that they are carrying a DS baby choose to terminate their pregnancies. This suggests that if nearly every pregnant woman screened for DS, the population of individuals with Down Syndrome could fall precipitously.

Many parents of children who have Down Syndrome are quite alarmed at this possibility and say that they do not want their children to live in a world where there are almost no more people like them coming into existence. Such an absence could mean that legislatures would no longer take the interests of people with DS into account. When a condition is rare, the constituency for accommodating those who suffer from it is accordingly small and relatively powerless. To help pregnant women and their families reach different decisions, such parents are therefore opening their homes to people who have received a prenatal diagnosis of DS and showing them that life with a DS child can be a rich and meaningful experience.

I have a few reactions to this story, which -- in the online version -- includes moving testimonials by families with a DS child and footage of such children and the blessings and joy they bring to those around them. My first reaction is empathy. I empathize completely with a parent's desire to have people out there in the world who will fight for the interests of her children and who will form a community into which her children will feel at home and valued. I also respect the fact that parents of children with DS are not all attempting to prohibit abortion but are instead reaching out to pregnant women and genetic counselors in an effort to inform the choices being made.

I do have a competing reaction, however, that is less charitable and empathic than the first. That reaction is to say that a DS child's parents' wish that more DS children be born is a a bit like a parent's wish that other children be sick like her child is. In other words, a parent whose child suffers from heart disease might hope that more children are born with heart disease so that resources are allocated to addressing the needs of sufferers. In a world of scarce medical resources, such a wish is understandable, but it is not one that we would necessarily want to encourage or support. Wouldn't it be better if very few children were born with heart disease?

The matter of genetic screening is, of course, somewhat different from the facts in this example, because a pregnant woman has a specific fetus inside her womb, and that fetus will either live or die. To say that it would be better for her to have a child who does not have DS, then, is not only to recommend preventing a condition but to recommend preventing a particular person from being born. It is, to use a loaded term, a kind of personal "eugenics." And eugenics raises distinct ethical problems, however one views the morality of abortion.

To take the abortion issue out of the equation altogether, consider the following thought experiment. Imagine that scientists develop (as they some day might) a gene therapy that makes it possible to "cure" a baby of Down Syndrome in utero, perhaps by "turning off" the extra chromosome so that it has no effect on the growing human being. If and when such a day comes, I suspect that virtually every pregnant woman who receives a prenatal diagnosis for DS will want to utilize the treatment, even though it will fundamentally alter the "person" who would have emerged into the world absent intervention. Would such tinkering be wrong? Perhaps. Would it represent a loss, to existing DS sufferers, to people who could have loved and enjoyed the company of people with DS and to the world? Absolutely. It is hard not to feel sorrow at this prospect if one has been lucky enough to know a person with DS. But as long as we consider Down Syndrome a disability, one that carries with it special medical needs and hardships and a significantly shorter life expectancy than most of the population enjoys, I am troubled by the aims of a movement whose objective is, explicitly, to increase (or at least prevent a decrease in) the frequency of this condition in the population.

19 comments:

PG said...

Do you think there's any sense among the families and friends of people with DS, and among those people themselves, of a kind of DS community or culture? That seems to be a thread in the concerns about in vitro surgery to correct for deafness or blindness, or genetic testing that will pick up these disabilities and women who choose to abort fetuses with such disabilities. That is a more striking argument to me as a piece of the "that's eugenics!" retort to medical interventions than simply the idea that the individual will be a different person -- that we are taking a particular kind of person out of the world and thereby losing a whole culture. It makes one feel guilty of a victim-less genocide in which no identifiable individual has to die, but a culture (e.g., American Sign Language) dies out.

The "different person" concern tends to go with a naturalistic frame of thought, that believes however one *is* is how one should remain. One of my friends would probably be different in some respects if his mom had been able to carry her pregnancy longer instead of having an emergency C-section, or if she had had him at a younger age. If she had those medical or lifestyle differences, I wouldn't decry such a choice, and I doubt that those concerned about "eugenics" would be either. It's the sense of an unnatural intervention that seems to get people upset.

egarber said...

Two arbitrary thoughts:

1. 90% of women with early positives abort the fetus? I would have guessed much lower.

2. I'm nothing close to an expert, but I always hear that early tests don't necessarily guarantee that the baby will be born with DS -- they merely isolate possible precursors.

Maybe there are more conclusive tests now. But if not, that certainly adds a complicating factor to the decision, since it might lead a mother to wonder later on if she over-reacted.

Tam said...

I am reminded of Jeremy Waldron's article, "Homelessness and the Issue of Freedom," in which he notes that

one question we face as a society -- a broad question of justice and social policy -- is whether we are willing to tolerate an economic system in which large numbers of people are homeless. Since the answer is evidently, "Yes," the question that remains is whether we are willing to allow those who are in this predicament to act as free agents, looking after their own needs, in public places -- the only space available to them. It is a deeply frightening fact about the modern United States that those who have homes and jobs are willing to answer "Yes" to the first question and "No" to the second.

[39 UCLA L. Rev. 295.]

This is like your heart disease analogy. Waldron wouldn't advocate socialism either. Rather, we should just acknowledge and address the negative consequences of the policy choice directly. So while (indeed, because) I sympathize for those with DS, too, I agree with your second reaction.

Jeff said...

There is with out a doubt a very large Down syndorome community.

As the father of a son with Down syndrome I can also tell you that we are all just as different and diverse in our beliefs and politics as any other group in our great country.

For our family the biggest issue in this whole matter is providing factual information to a family about Down syndrome so they can then make an educated choice that fits best for them. Usually it is a one sided medical version based on data left over from the days of institutions.

And what always intrigues me...90% terminate....are we to belive that 90% are only left wing Pro-Choice liberals? I think not....

Adam P. said...

This debate plays into a number of "disabilities". I use the term "disability" because many people question whether or not the underlying difference is actually a disability.
In a forthcoming piece, I look at this argument in light of obesity. One of the arguments for antidiscrimination protection for obesity is that obesity is looked down upon in society, and campaigns to reduce the prevalence of obesity actually worsen this stigma. Therefore, the campaigns to reduce obesity are stigmatic and inherently unjust- regardless of the outcome on the prevalence of obesity.
Similar issues have arisen in the area of HIV/AIDS. AIDS prevention campaigns have been tossed because they may increase the stigma around AIDS. One anthropologist, Nancy Scheper Hughes, has been known to criticize this vantage, arguing that while people can survive stigma, they don't survive AIDS.
There seems to be an inevitable tension between prevention of a disability and the dignitary rights of the people with that disability, when social/behavioral efforts are the means of prevention. Testing for Down's seems to be much closer to the social/behavioral paradigm.
So do we make life a little bit worse for the people who already have developed a disability to prevent others from getting it in the first place? Its a value judgment, but I say yes.

Sherry F. Colb said...

I am finding the discussion about my blog post very interesting and enlightening. I do think that cultures develop around differently-abled groups of people and that once that happens, the loss of that culture becomes a distinct threat inherent in attempts to reduce the frequency of a disability. On the 90% number, which has received some puzzled reactions, I have a few thoughts. First, I read the number in the Times article and believe that it refers to people who have, in the past, received a positive chromosomal test for Down Syndrome through an amniocentesis (rather than the early-detection tests that are now being offered more widely and are more accurate than blood tests in the past though not as accurate as an amnio). When people get a positive screen initially, I believe that doctors will ordinarily recommend a later amniocentesis (or chorionic villi sampling, which can happen earlier than amnio but poses greater risks of miscarriage) rather than proposing an immediate termination. On Jeff's post, let me say first that your son is a beautiful and adorable child and that your family story must provide inspiration for many families who are struggling with this issue. Second, you are absolutely right that many medical professionals press parents with this prenatal diagnosis to terminate and that such pressure is, frankly, inconsistent with any meaningful notion of reproductive choice and quite disrespectful of the decision that many families make to go through with a pregnancy. Are 90% of Americans left-wing or pro-choice? I suspect not, as you suggest. On the other hand, it may be that people who would not have an abortion under any circumstances (or, at least, on the basis of a genetic diagnosis) would also choose not to have an amniocentesis, particularly given the risk of miscarriage. This, in turn, could skew the results toward the pro-choice end of the spectrum. In addition, as I know from the personal stories of lawyers who have worked with abortion clinics, some people are opposed to abortion in theory but avail themselves of the procedure in their own lives when they are faced with a pregnancy that they did not plan or want, for whatever reason. It is fair to say that few of us live up to all of our ideals, and this is an example of that phenomenon. Finally, I think various commenters are correct to note that, to some extent, it is quite challenging simultaneously to try to reduce the incidence of a condition by which people come to identify themselves and their loved ones (whether it be Down Syndrome, HIV-positive status, inability to hear or to see, etc.) without simultaneously conveying disrespect or devaluation toward existing people who have that condition. Whether the goal is to reduce suffering or to perform a kind of triage with limited medical resources, as Tam suggests, we have to proceed with caution and remain sensitive to the communicative impact of collective professional decisions like broadly testing prenatally for DS.

Aidan said...

Perhaps the best analogy is in deaf culture, which has an (uneasy) at best relationship with cochlear implants. With early implantation (some implants can be installed as early as 12 mo) and sufficient therapy, can enable essentially "abled" lives. However, there's strong resistance to this procedure, and traditional elements in deaf culture fear the loss of ASL, and the eradication of deafness as an unwanted condition.

I think three thoughts come to mind:
a) With increasing severity of the disability, there's less sense that the "abled" condition is potentially unwanted. It would be difficult to imagine a broad scale campaign against visual implants, for example.
b) I also think it is somewhat dishonest to lump "curative procedures" like cochlear implants, or potential procedures against heart disease or childhood leukemias with an active screening program against individuals. The better comparison is probably with (voluntary) campaigns against genetic diseases like Tay Sachs or Cystic Fibrosis, or even Huntington's, where the only recourse is not having children (or using pre-implantation screening to select only non-affected embryos)
c) Increasing non-invasive pre-screening might lead to insurance coverage issues downstream. Imagine being denied, at 25, for a life insurance policy or health insurance because of a "pre-existing condition" diagnosed in utero. I think we all need to think, clearly, about how we control and protect ourselves from our own genomes.

BCC said...

As a 39 year-old pregnant woman, I can shed some light on an issue raised by egarber's comment. For the record, I'm pregnant with my third child, all three of whom were conceived after I turned 35.

First of all, we need to all be clear on the difference between a screening test and a diagnostic test. It is an early screening test which is now being made more frequently available to pregnant women under 35. The main advantages of screens - specifically the "ultra-screen" - are that: A) it can be done relatively early in the pregnancy, at 11-13 weeks, and B) it is non-invasive and therefore carries minimal risk to the pregnancy. The disadvantage is that all the test can do is narrow or expand the odds that a specific pregnancy may be abnormal.

Based on a number of factors specific to that pregnancy (maternal age, blood test data, high resolution ultrasound of fetal nuchal translucency) the odds of that pregnancy being abnormal will be recalculated according to the results of the screen. The recalculation may move the odds up or down, changing them from, say 1 in 150 to 1 in 2,000 or vice versa. For most women, this will put their minds at ease and they'll elect not to undergo further testing.

It is my understanding that the threshold for a "screen positive" result is around 1 in 300, or approximately the generalized risk of accidental loss from doing a diagnostic but more invasive test. If you've ever taken statistics, you'll be familiar with Type I and Type II errors. A "screen positive" result on the ultra-screen is analogous to a Type I error in that a pregnancy can be "caught" by the screen, but it turns out on further investigation to be perfectly normal. In fact, this is what will happen with the majority of "screen positives." The screen parameters will be deliberately tight in order to minimize the risk of Type II error (what would occur if an abnormal pregnancy were to slip through the screen undetected). LET US BE QUITE CLEAR THAT NO DOCTOR WOULD RECOMMEND THE TERMINATION OF A PREGNANCY BASED SOLELY ON SCREEN POSITIVE RESULTS! Instead, at this point the doctor will likely recommend further testing as a next step, such as a diagnostic test.

Some women choose to "play the odds" and not do any diagnostic tests. Some will choose not to have any tests at all. Others (such as myself) won't even both with the uncertainty of the screens and will choose a diagnostic test from the outset.

Unlike screening tests, diagnostic tests tell exactly what is going on with a particular pregnancy. There's no calculation of odds, no question of Type I or Type II errors. Diagnostic tests such as a CVS (done at 11-13 weeks) or an amniocentesis (earliest at around 16 weeks) involve withdrawing a sample of fetal DNA and performing a series of genetic analyses to determine if any known and tested mutations are present. Genetics is an exploding field: whereas the CVS I had on my first child in 2003 tested for 86 mutations, the one I had performed 2 weeks ago tested for 90. The downside of diagnostic testing is that it is inherently more risky to the pregnancy. In my case, I had thoroughly researched the doctor and facility where my test was done. I was aware that the doctor is a leader in the field and their error rate is considerably below the statistical average.

The women I have known who have chosen to undergo diagnostic testing - either from the outset, or as a result of a screen positive - have all been very satisfied with the experience and would recommend it.

egarber said...

Sherry said:

Finally, I think various commenters are correct to note that, to some extent, it is quite challenging simultaneously to try to reduce the incidence of a condition by which people come to identify themselves and their loved ones (whether it be Down Syndrome, HIV-positive status, inability to hear or to see, etc.) without simultaneously conveying disrespect or devaluation toward existing people who have that condition.

I know what you mean, but there's something weird about this to me.

So somebody who has contracted HIV for instance, is potentially stigmatized further when people talk about prevention.

But diabetics and cancer survivors are typically 100000% in support of cures -- to the point where they push politicians on stem cell research, etc.

And it can't be a lifestyle criticism with HIV in the main, since so many children through no action of their own are strickened.

What makes one condition paralyzed in its stigma and another a catalyst for prevention?

Adam P. said...

egarber- interesting points, to which I've always thought the answer was obvious and distressing. Breast cancer and autism are diseases associated with just as many educated, white, straight, middle and upper class families as they are with stigmatized populations. AIDS is a disease associated with the poor, the gay, and the drug user. Further, with many fo these conditions, advocacy is less about behavioral change and more about raising money. Stigma has never developed around "blaming" people for getting breast cancer.

Finally, I'd just point out that diabetes isn't exactly free from the tension here. "Fat activists" have been known to criticize diabetes prevention policies because of the stigma argument. Further, there was a disturbing article in the |Times last year about the juvenile diabetes (Type 1) advocacy community, who is very upset by the increased attention and funding of Type 2 diabetes. Though the Type 1 population is significantly smaller, and not growing like the Type 2 population, the basic gist was that there needs to be a "cure" for juvenile diabetes, not just behavior change like with type 2, and cures cost more money.
Underlying this whole debate was an implication that children with Type 2 diabetes are more blameworthy, as well as some subtle shades of racism/SES disparity.

But this is tangential from Prof. Colb's original post. But the tension between social movements and advocacy for those who may have a condition and those who seek prevention is broad.

egarber said...

Thanks Adam P.

Re-reading what I typed, I think maybe the difference is between prevention and *cure*, on some level.

When one supports a *cure* (vs. prevention), there's no attack or indirect criticism of the strickened individual -- judgment about perceived culpability isn't part of the equation..

But even as I type this, even that blows up. If this theory is right, people should be offended when doctors tell us certain dietary habits can lead to heart disease or cancer. But there's no group of heart disease victims offended by these suggestions, I wouldn't think.

Sigh. Darn these Dorf people for making my head hurt :)...

L. Noelle said...

As a parent to to 2 children, one with DS and one without, I can speak clearly from both sides of the fence. My first daughter, perfect, healthy and brilliant in everyway, was just what I had always envisioned my child to be. She is still a healthy, bright beautiful 8 year old, thriving in everyway. While pregnant with her, I underwent all the usual tests and had no unusual results.

An effortless, healthy pregnancy. But during the pregnancy with her, I would read the Pregnancy magazines and I don't remember every picking up one that didn't mention something about Down Syndrome. It seemed like everywhere I turned either they were testing for it, or screening for it, or telling you how to prevent it, god forbid this could happen to you. All the while, putting this fear in you that the last thing you would ever want in this world, is a baby with Down Syndrome. I, being superficial and very into asthetics, thanked god every day for my perfect, gorgeous beautiful girl and pitied all of those parents I had read stories about who had "less than perfect" children. I wondered how God could be so cruel as to burden families with babies with Down Syndrome, or even worse Autism, Cerebral Palsy.

Fast forward 5 years to my second pregnancy. Another, easy, healthy, perfect pregnancy in which I never felt better. At the 12 week testing, they suggested a "triple screen" test because I had just turned 35, and they could now do a Nuchal Fold Test along with the blood test to determine what my odds were of having a baby with Down Syndrome. I had the ultrasound, Normal, blood tests, nuchal fold, normal. 20 Week ultrasound normal. Perfect once again, I silently congratulated myself on carrying another perfect baby and once again felt pity for the other women I read stories about who had so many dificulties and diagnosis's to deal with during their pregnancies. I remember my 20 week ultrasound appt. where they told me I had a perfectly healthy boy and as I walked out of the office, I remember seeing another expecting mom and her husband crying in the corner of the office. She was probably 5 months pregnant, and I remember her husband crying just as hard as her. I thought about them alot during the rest of my pregnancy and wondered what terrible news they could possibly just have received, I felt bad for them.

Dec. 2004, Jaden was born. Perfectly healthy, a 9, 9 on the APGAR scale, crying, pink and ready to nurse. Everyone congratulated me and let me hold my beautiful son. He looked at me, I looked at him, and I knew, this baby, in all of his perfection, looked different, He was cute, he was alert, but he was different. He started nursing right away, and all of his bodily functions were working perfectly. He was most certaily healthy. It wasn't until the 2nd day, when my OBGYN came in the room and said "The Dr's told you right?" I said "Told me what", "Oh, I guess I'm the first one to tell you, well first let me tell you he sure is a cute little guy, but they think he has Down Syndrome." I said, "So do I. " And then I started to cry. he said "I'm sorry" and left the room. And That, my friends is what I like to refer to as the Real Beginning of My Life.

You see, it was at that moment, alone for the first time in 2 days, in the hospital room, that I knew my life would now forever have a purpose I never dreamed I would have ever wanted. But not only was I ready for it, I embraced it and wanted it and so did my husband. We didn't flinch, we were already in love with our baby and in our smugness, knew he would be just fine, and he was.

Secretly, I had been waiting for something greater than my cocky, righteous self, to come along and give me a purpose. It came in the form of my son. A son who continues to, every single day, remind me of what life Really is. A son who has turned me into an advocate and crusador and supporter. It isn't My Perfect Daughter, or My business Success and accolades, or How much money my husband makes, or how gorgeous we look, or how beautiful people tell you you are, or how many things you have, or how great your child's school is.

I knew I needed to learn this, and re-learn this, and re-learn this, a lesson on what Life Really is. And selfishly, I thank god everyday for giving me perfection in the form of my son. A son who is perfectly healthy, perfectly smart, perfectly funny, perfectly talented, perfectly charming, perfectly handsome, perfectly loving, just PERFECTION in all of its glory. A son who the world loves in a way I would never have dreamed, a world that ebraces and nurtures him and welcomes him and accepts him and adores him. A world in which everyday I enter it with him I am reminded of all of the love and good that there really is, for we haven't once experienced discrimination or strange looks or glances of pity. All we have ever experienced from all of the strangers we have ever encountered is them telling us how gorgeous he is, how beautiful his big brown eyes are, how long his eye lashes are, how perfect his smile and teeth are and on and on.

I am thankful I did not find out about Jaden Prenataly, because I would have read such outdated, stereotypical, innacurate, depressing, non-hopeful information and would have been miserable and fearful. I would have read opionions from people who have no clue, articles regurgitated by the same writers, information passed on through the internet from textbooks written in the 1950's. I would have expected a freak of nature, a deformity, a disease, a hardship, a horror, a mistake, anything but Jaden, my perfection of a son.

However, I would never have had an abortion, even though I most certainly would have been frightened. When my son started nursing right away (not supposed to be able to), rolled over at 3 weeks, sat up at 5 months, crawled at 7 months, walked at 12 months, spoke, laughed, talks, walks, runs, listens, focuses, understands, and has never needed any surgeries, I ask you, What more does anyone want?! Where are all of the delays, hardships, special needs? Imagine a world where everyone with a Diagnosis that required treatment, (Even though My Son requires No Treatment of any kind), was not allowed to live? Imagine a world where any kid whose future was seen through a looking glass and if they were to experience any hardship or illness that required hospitalization or long term care then they would be terminated. What people really should be discussing is, when we become so arrogant and righteous to determine who lives and dies by virtue of distorting information that people receive, to remember that none of us are invincible, none of us. A mother's love and a Father's love is the most powerful love of all, and I would never wish a world full of more children like mine, in order for my son to have similar "neighbors." I would only wish for a world where people with Different Abilities were living right along side us, so that all of our righteousnous could be washed away. All it takes is one moment for anyone's life to change in a second, afterall, talk to anyone who is paralyzed from an accident.

Freedom of speech is a funny thing, it allows me to sit here at my computer and share my thoughts with complete strangers, and it also allows me to read the words of so many people who really have not discovered the understanding of life and living. I needed my son to show me things, however hopefully others will grasp a little of what I'm saying as to see things slightly differently. One thing is for sure, My son doesn't have a disease, he isn't sick, he will live independently and drive and have friends and graduate from school and live a long life and have fun. He isn't a burden, he isn't suffering or struggling. He is happy and healthy. I now worry more about my daughter than I ever do about my son, because the world is a scary place for a beautiful, bright, precocious young lady! I worry about her on the internet, out with her friends some day, etc etc. But jaden, No, I no longer worry about Jaden. He is going to be just fine.

Please feel free to stop by my blog, jadensjournal.blogspot.com
or email me. noelle@lnoelle.com

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