Selective Amnesia, Part 3: We Are Judged On Our History

In Part 1 and Part 2 of this three part post, I described the continuity of explicitly eugenic goals in post-WWII genetics as illustrated by some aspects of the history of the American Society of Human Genetics (ASHG). Here I follow these eugenic threads up to the modern day to help us understand the complicated and at times antagonistic relationship between geneticists and people with disabilities, their families, and their advocates. I pick up the story with the introduction of amniocentesis into clinical practice.

It is probably not a historical coincidence that “genetic amniocentesis” began to flourish once safe, legal abortion became available in the US and other countries in the 1960s and 1970s (amniocentesis had been performed for therapeutic reasons and for monitoring fetal lung maturity and Rh incompatible pregnancies for some time prior). In the 1970s, cell culturing techniques and cytogenetic G-banding allowed reliable prenatal detection of fetal karyotypes. Prenatal testing was initially made available to pregnant women who were 35 or older. The story that is told – our collective memory –  is that this age cutoff was chosen because at age 35 the probability of an unbalanced karyotype in the fetus was greater than the miscarriage rate of the procedure. In fact, the primary reason that this cutoff was chosen was economic cost-benefit –  the cost-savings by preventing births of children with Down syndrome outweighed the cost of the procedure and lab work. Or, as the authors from a 1973 article in The Lancet more bluntly put it:

“We are less certain about the balance and costs [of amniocentesis] at current rates of screening the whole pregnant population. But is a detailed estimate of the costs required? The lifelong care of severely retarded persons is so burdensome in almost every human dimension that no preventive program is likely to outweigh the burden.”

As each new form of prenatal diagnosis was introduced into clinical practice – maternal serum screening for neural tube defects, chorionic villus sampling, ultrasonography – the scope of conditions considered for prenatal screening expanded, as did the number of pregnant women “eligible” for testing. For example, alpha-fetoprotein (AFP) screening was introduced to detect spina bifida and anencephaly and then broadened when it was discovered that low maternal serum AFP was linked to fetal Down syndrome, trisomy 18 and other aneuploidies and genetic conditions. Detection rates continued to rise as additional analytes (e.g. hCG, estriol) were incorporated into testing. Ultrasonography was initially seen as a tool to measure fetal growth, verify viability, and to identify multiple gestations. It soon became a diagnostic and screening tool for detecting neural tube defects, then Down syndrome, and eventually many uncertain, minor, and profound fetal anomalies. Targeted carrier screening for genetic conditions enriched in certain populations such as Tay-Sachs disease among Ashkenazi Jews grew to include ten or twenty conditions, and now covers hundreds of rare genetic conditions, regardless of ancestry

Up until the 1990s, most studies that tried to measure the success of genetic counseling focused on reproductive decision making and the impact on the incidence of disabilities. Thus, prenatal testing  continued the historical thread of the overarching clinical concerns of medical geneticists that the gene pool was unhealthy and that disability was a medical and familial tragedy as well as an economic drain to be avoided. Compared to counseling patients to make the “right” reproductive decisions, prenatal testing was a more direct tool for avoiding disability and its associated costs. You might counter-argue that not all women choose to have an abortion when faced with an abnormal prenatal test result. Although there is wide variability in termination rates when Down syndrome is detected prenatally (<50% t0 >90%), estimates suggest that prenatal screening in the US has resulted in about a 1/3 reduction in the prevalence of Down syndrome. Other studies show that the ultimate effect of carrier screening is to prevent the birth of children with genetic conditions

This expansion in prenatal testing occurred with minimal input from people with disabilities, their families, or their supporters. Or input from too many others outside of the genetics and obstetrics communities. No careful weighing of ethical and social values, no seeking of diverse viewpoints. Pretty much any time a new test was shown to be clinically valid or an old one was improved, it was incorporated into clinical practice, a trend that accelerated once genetic testing became big business. Offering genetic testing to all pregnant women for a whole bunch of conditions, well, there’s gold in them thar’ hills.

I know that the view from inside the clinic is very different. Women faced with a positive prenatal test result make difficult, highly situated, emotionally difficult decisions that have little to do with concerns about the health of the gene pool or reducing the population frequency of genetic conditions. But the view from outside the clinic yields a different picture, one in which prenatal testing can look like an existential threat. In addition, people with disabilities get no palpable benefit from prenatal screening, and, tellingly, very little research has been done that tries to demonstrate medical or psychological or developmental benefits to prenatal testing. With rare exception, we are not even trying to show that prenatal testing is helpful beyond allowing the option of termination, even if we claim – with little proof – that it can help prepare a family for the birth of a child with a disability. Advertising for prenatal tests typically pitch the product as a way of ensuring “healthy babies.”

Bias against people with disabilities is not limited to prenatal clinics. It also manifests in genetics clinics where patients and families come for diagnosis and management of congenital and genetic conditions. What, you say? No way. Medical geneticists and genetic counselors are being helpful. We are figuring out what their medical problems are and helping them manage, adapt to, and live with them. We fight and advocate for them.

Yeah, that’s true and we damn well better be doing that stuff. I never met a genetics professional who wouldn’t charge into Hell for their patients. But. A patient visit to a genetics clinic can feel like entering a wunderkammer, a Cabinet of Curiosities, where they are cataloged for their freakishness and pinned in the glass case of a journal article or clinic note. We put them under a clinical microscope to parse out the ways they are different in excruciating detail – the length and shape of their philtrum, the set of their ears, the distance between their pupils, the gap between the first and second toes. Their DNA is analyzed in nano-fine detail in search of pathogenic variants that set them apart from the rest of us. Their rich family histories are reduced to circles and squares that we blacken and mark with death slashes. In effect, clinicians are (unintentionally) doing everything they can to show how patients are different from the clinicians. Geneticists may not be blatant ableists, but they can unintentionally reinforce systemic ableism.

Even the psychological aspect of genetic counseling – what we like to think makes us the ethical antithesis to eugenics – is historically steeped in  prejudice against disability. As the historian Marion Schmidt has demonstrated, the history of psychotherapy around disability is rooted in negative stereotypes. Psychotherapists’ theories were based on the assumption that cognitive and physical disability produces unique psychological disabilities for patients and their families. When psychotherapeutic techniques were incorporated into genetic counseling, it was to help families work through the emotional trauma induced by having a “defective child” so the family could ultimately make “logical choices.” For example, Arthur Falek, the director of the first psychiatric genetics department at Emory University, in a chapter on psychological aspects of genetic counseling in a 1977 genetic counseling text, wrote “lack of guidance and realistic planning in families with genetic disorders can lead to disastrous results.” Or as Steven Targum wrote in a paradigm-shifting 1981 article on psychotherapy in genetic counseling “With the advent of prenatal diagnosis and screening programs to determine carrier status, prospective genetic counseling programs have become a reality. Such counseling may avert much unwanted human suffering. The psychotherapeutic considerations discussed in this paper may be applied to prospective parents who need to anticipate the impact of a defective child on them.”

It’s no wonder that people with disabilities might look at geneticists with a wary eye. Viewed with their lens, we’ve been working to reduce their numbers and label them as disappointments to society and their families, even as we paradoxically advocate for them. Sometimes when we are working to do good we can do bad. It is so deeply rooted in our history and our practice that we have a difficult time seeing it. There are parallels here with White people’s attempts to support Black lives that has often served to reinforce systemic racism. This criticism is difficult for us to accept in much the same way that those who run diversity training programs have found that White people who profess to be non-racist have a hard time accepting that their thoughts, words, and deeds can negatively impact people of color. And, like Blacks in America, people with disabilities have suffered from discrimination in housing, medical care, employment, voting, and education. Laws may grant basic rights to ethnic minorities and people with disabilities, but they still have to fight tooth and nail to get those laws enforced

I am not claiming to be a spokesperson for people with disabilities. I am not in a position to present their views, which may vey well differ from mine. Rather, I am using a historical narrative to try to understand why some people with disabilities may be ambivalent and distrustful of clinical geneticists and genetic counselors. There have been plenty of articles written about these matters, plenty of speakers at conferences, and course work in training programs. That’s all good, but more concrete actions need to be taken. We could conduct more studies on whether there are benefits to prenatal screening beyond pregnancy termination. We can hold more robust and diverse discussions to develop guidelines for deciding which conditions to incorporate into prenatal and carrier screening that are more measured, respectful, and ethically balanced. We need to teach a more honest assessment of our history. We should understand and respect our past but we shouldn’t honor ethically flawed practices like eugenic sterilization by naming awards after their advocates. When we are criticized we need to react receptively, not defensively. We should be as dedicated to these goals as we are to fighting for racial equality. Amen.

 

8 Comments

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8 responses to “Selective Amnesia, Part 3: We Are Judged On Our History

  1. Mike

    I’m almost loathe to leave a comment because everything you have written is so well said, Bob. But I’ll leave some thoughts and questions;

    The tension between our role in prenatal testing and our commitment to being disability advocates was felt almost daily when I was a prenatal GC, particularly in counseling sessions with couples after a diagnosis was made (particularly a diagnosis of Down syndrome).

    I found that many individuals/couples who decided to terminate a pregnancy of a fetus with Down syndrome would express guilt and almost apologize to me, worried that this decision would characterize them as biased (what we might label “ableist”), and that they were “bad people”. This would often include an expression of support or validation for the existence of people with Down syndrome. This guilt seemed distinct from the guilt or shame related to the termination in itself.

    What to do here? I found that my course was to try and help examine these feelings further, but this was heavily restricted by 1) my desire to provide comfort during this clearly painful time and 2) to not come across as trying to question or hinder a woman’s autonomous bodily decision.

    But would a “true” (maybe we can say “radical”) disability advocate press on these feelings of guilt? Would they point out that it is seemingly hypocritical to outwardly support individuals with disabilities but simultaneously decide that it was not “good enough” for them?

    That seems cruel, and it’s certainly not something I would do nor advocate for someone else to do. Nor would I ever want somebody to continue a pregnancy due to guilt or a feeling of social responsibility. BUT, is it not the logical conclusion of a paradigm that asks us to dismantle the systemic oppression of disabled individuals and fight for their existence and rights? I am afraid I’m missing something here but can’t find it.

    Thanks.

  2. Sarah

    I agree with your arguments here, but I felt like you left out a big reason that one would pursue prenatal testing – medical management. The biggest misconception I run across in genetic counseling is that people think we do only offer termination in response to positive prenatal testing. But for example, for those babies with Down syndrome and a heart defect, delivery at a tertiary medical center to further improve their outcomes may be chosen over the small community hospital. Or also, you can make arguments for fetal surgery, we know they don’t “cure” all issues (ex spina bifida) but only improve the life that someone may go on to live with their disability.

    • Robert Resta

      Sarah – Thank you for raising those points. I don’t disagree that there might be benefit to delivering a baby with a heart defect or some other conditions like gastroschisis or omphalocele or some forms of spina bifida, in a tertiary care center. However, these situations make up only a very small portion of all babies diagnosed prenatally. What is striking to me is that there is so little research on whether delivering a child with Down syndrome at a tertiary care center leads to improved medical, developmental, or familial outcomes. Why is the research not being done on anything like large and meaningful scale even though prenatal screening for Down syndrome has been in place for over 30 years?

  3. As one who is far removed from having to address these issues directly – which has advantages in thinking about them but is mainly meant as a disclaimer – I have the following thoughts.

    It is critical to distinguish between roles. When you are providing clinical services as a genetic counselor, your ethical obligation is to the patients. I think it is admirable that you try to help them examine their feelings. To the extent that they can reduce their sense of guilt and raise their awareness – “This very difficult situation has helped me better understand the circumstances of individuals with disabilities” – they may find a way to support disability rights. That is one thing that might be suggested to them gently and as appropriate, if you don’t already, as a way to do something productive and alleviating with their sense of guilt.

    When you are not providing clinical services, you may take any action you wish on behalf of disability rights. But I suggest that the attempt to be a “true” or “radical” disability advocate if one is not one diminishes one’s effectiveness. Adrienne Asch was a friend and colleague for many years. I learned many things from her, and one was that I could be a supportive colleague and write useful journal articles, etc., but I could not be a disability rights activist because I am not one.

    Your Comment also involves a parallel process, which it is often useful to consider: The patients express their sense of guilt to you, and you are expressing your sense of guilt here. How can your discussions with patients help you to see your own situation more clearly? Conversely, as your thinking advances, how can you draw on that in your discussions with patients?

  4. Katie

    Rob, thank you for your thoughtful and well-researched post, as always. I greatly appreciate your laying bare of our eugenic history, and I don’t dispute the facts or your conclusions, but the post raised several issues for me that I’d like to explore further.

    As you are likely aware, a recent Twitter ‘event’ (can you tell I hardly do social media and don’t do Twitter at all? I literally went to Twitter for the first time to try to find this specific thread and was unable to and had to have someone else find it and send it to me) led to a lengthy and, what I believe to be, informative series of posts on the NSGC General Member Discussion forum. A lot has been said about that exchange, and my intention here is not to delve into it again. However, one of the earlier posts in the thread was from a genetic counselor who identifies as BIPOC and indicated that she feels passionately about expanded carrier screening being offered to all pregnant women (sorry for the paraphrase, but again I tried to find the thread and failed). The conversation then took various turns from there, but her point was that ethnicity-based carrier screening misses too many carriers and isn’t nearly as good for BIPOC. While that is scientifically true and makes sense to me, it seems to directly clash with your argument that offering carrier screening and prenatal testing stems from a desire to rid the world of people with disabilities because the answer to that might be to not offer it to anyone.

    Of course, just offering a test doesn’t mean that everyone will take it. We can be “non-directive,” right? But really, we all know that we very much direct our patients by the tests we offer and how. So then, do we not tell patients that such tests are available? In all likelihood, this leaves discussion of prenatal testing up to their OB who will most likely give minimal explanation and no thought to whether or not the patient’s pregnancy should be further medicalized because, well, she’s practicing medicine, so her bias is pretty clear. The more medicine the better!

    I think a lot of this comes down to being the information gatekeepers. We want patients to be informed and make informed decisions, and we’re the ones with the information, so we feel a need to share it with every patient equally so that they can make their own informed decisions. But we make a statement just by sharing the information. I do cancer genetic counseling. When patients test positive, I feel the need to tell them about any possible recessive disease risks associated with their condition. If they’re young, I mention the option of PGT, just like the NCCN guidelines tell me to. That’s absolutely not the best time to ask someone to think about reproductive options, but in a busy clinic where I rarely see patients more than once or twice, if not now, when? And partly I want to tell them all because I definitely don’t want to be mentioning it only to some patients and contributing to furthering health disparities, but how awful is it to tell a patient about a reproductive option that you know is economically unfeasible for them? I always qualify my explanation of PGT by saying that there’s no right or wrong decision about whether to use it, but I want them to be aware. I have no idea if that helps. I think it’s more to make me feel less guilty about bringing up this hypothetical situation amidst the discussion of their very real cancer risk.

    In digging for the previously mentioned Twitter thread, I came across a posting of a recent New York Times article detailing four families who are fighting tooth and nail to raise funds and advance research to “cure” the conditions that afflict their family members. By fighting so hard to “fix” the disabilities of their loved ones, aren’t these families also perpetuating ableism? The first vignette in the article was of a mother of a girl with Rett syndrome who has raised huge sums of money and is quoted as saying, “we have children with horrible diseases.” Later the article says, “And [the mom] cautioned that with academic researchers, ‘you have to recognize when a project sure is interesting but isn’t necessarily going to move the needle closer to a cure.” What does a “cure” for Rett syndrome even mean? My sister died at age 19. She had Rett syndrome and cystic fibrosis. As a child, I wished on every birthday cake candle that she would be “cured.” I imagined that meant she would magically transform into a walking, talking, “normal” younger sister. As I got older, I realized that without Rett syndrome, my sister wouldn’t be my sister. Biologically she could be my sister, but she’d be someone else. Rett syndrome was part of who she was, a huge part, and I loved her deeply. Not only did Rett syndrome make her who she was it, it made me who I am, and made my family who we are. Over 10 years later, I’m still learning exactly what this means and all the ways her diseases impacted our family, especially my parents, but I am grateful to have had my sister in my life. So when the woman in this article says she’s searching for a “cure” for her daughter, it upsets me. If she were looking for improved quality of life, better seizure control, meds to lessen the seeming pain of the early regression, I would be 100% on board, but looking for a cure seeks to erase the disability, which erases the person.

    So if the geneticists and genetic counselors are ableists and the families of people with disabilities are ableists, who are the anti-ableists? Does being anti-ableist mean we stop telling patients about tests that exist and stop all genetic research in favor of accepting every person as they are?

    I have no answers. Just thoughts and a lot of questions.

    • Robert Resta

      Katie

      Very thoughtful comment. It’s all so complicated. In terms of expanded carrier screening, I recognize the ability to detect carriers among patients who would not have otherwise been identified by ancestry-based screening. My issue is more along the lines of what conditions to include on carrier screens and why are those conditions chosen, other than because we can do it. The vast majority of conditions on these mega-screens are not enriched in any particular population as far as I know. So my concerns are who should decide what gets included on a screening test, why are conditions chosen, and what is the process for deciding. Do we leave it up to labs to decide on their own? Should there be a more formal process in which recommendations and guidelines are established after thoughtful input from multiple sources?

      Bob

      • Katie

        Hi Bob (sorry for calling you Rob previously),

        Yes, I definitely see your point. A more formal process for addressing these questions could be a good idea, but how do we even decide who gets to be part of the process? It seems it’s essentially deciding what a life worth living is. While there are likely some cultural norms about that, I’m sure there are a variety of opinions based on personal experience, situation, beliefs, understanding of the cosmos, and on and on. Again, no answers on my part.

  5. Actually I thought you would leave out a big reason why prenatal testing was going on – medical treatment. The main misunderstanding in genetic counseling is that people think that we only end up with a positive prenatal test. Of example, delivery to the tertiary clinic to further improve results can be determined in the small community hospital for babies with Down syndrome and heart defects. Alternatively, you can argue for fetal procedure, we know that they are not “cleaning” all issues (ex spina bifida), but are only enhancing a person’s life to cope with his or her disability
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