Tag Archives: disability rights

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

Filed under Robert Resta

A Mixed Verdict

A recent $50 million dollar jury verdict in a “wrongful birth” lawsuit in the Seattle area* has caught the attention of genetic counselors, hospitals, patient advocates, and legal experts. The ruling in this case may have both positive and negative implications for the genetic counseling profession. Let me be clear up front – I am not passing judgement on the verdict, the medical providers, the parents, the quality of care, or the laboratory. This case is very complicated and no doubt many details were not publicly reported. Although I know some of the parties involved, I was not directly connected to the case and I have no insider knowledge. Indeed, I did not know about the case until it hit the news.

In 2007 a woman underwent chorionic villus sampling (CVS) because her husband was a known carrier of a very subtle 2;9 translocation. The institution where the procedure had been performed had no genetic counselor working on the day the CVS was performed, contrary to departmental guidelines for complex cases. Somehow the details of the translocation were not clearly communicated to the cytogenetics laboratory. The fetus had an unbalanced translocation that was erroneously reported out as a normal karyotype. The couple continued the pregnancy to term and the misdiagnosis was detected after the child was born. In 2010 the couple sued the hospital, the laboratory, and the physician who performed the CVS. The physician and the plaintiffs entered into a “High/Low” agreement  in which the defendant agrees to pay a minimum recovery in return for the plaintiff’s agreement to accept a maximum amount regardless of the outcome of the trial. The medical center and the laboratory  were held equally responsible for the $50 million payout, with half the money going to a Guardian ad Litem for the child to pay for his medical care and other expenses and half going to the parents.

The core argument of the plaintiff’s lawyer was that the error would likely have been prevented if a genetic counselor had overseen the patient’s prenatal testing to assure that the critical information about the translocation was clearly communicated to the laboratory. The medical center had reduced the genetic counseling staff despite pleas from the maternal fetal medicine specialists and in the face of growing patient volumes and increasing net revenue. Lawyers for the plaintiff further claimed that the medical center and laboratory did not follow Error Prevention and Quality Management Policies and that the misdiagnosis was the result of a systemic failure. These arguments were important to the extraordinarily large size of the award; the missed diagnosis was attributed to “true negligence” rather than a one-time human error.

The outcome of this case can be beneficial in several ways for the genetic counseling profession. The jury acknowledged the critical role that genetic counselors serve in the delivery of medical care. For genetic counselors trying to justify their positions and salaries can now also argue that their institution’s legal vulnerability can be dramatically reduced by having an adequately staffed genetic counseling service. After all, genetic counselors’ salaries are a pittance in the overall hospital budget and pale in the face of multi-million dollar legal damages. Genetic counselors served as expert witnesses for both the plaintiffs and the defendants, further enhancing the profession’s status.

On the other hand, the verdict did little to improve the rocky and complicated relationship between genetic counselors and people with disabilities, their families, and their advocates. From the perspective of many in this group, prenatal diagnosis and selective termination are bright shining examples of society’s intolerance of people with disabilities. Because genetic counselors are integral to the delivery of prenatal diagnosis services, we are criticized for being part of a larger social and systemic bias.

Genetic counselors counter that they do not direct patient’s decisions, only support them. Genetic counselors are all too familiar with the gut-wrenching, emotionally draining process that patients go through when they decide to terminate or continue a pregnancy in which the fetus has a chromosomal imbalance. And in many situations, genetic counselors serve as advocates for people with disabilities and their families. But this defense does not hold water with those who argue that the very existence of prenatal screening is an insult to people with disabilities who, after all, do not see much in direct benefit from NIPS, amniocentesis, CVS, etc. What positive message can someone with disabilities find when half of the fifty million dollar award was for pain and suffering of the parents, and the very justification of the life of someone with disabilities is called into question when he or she is labeled “a wrongful birth?”

For now, we live in a society where women have the hard-earned right to terminate a pregnancy for whatever reason they choose (although the ability to act on that right can be severely hampered by socio-economic status and governmental policies). Genetic counselors line up behind the defense that they nondirectively help women to act on this reproductive freedom. Disability advocates are often avid supporters of reproductive rights too but do not feel that prenatal testing is necessary to the expression of reproductive freedom and point out that society’s negative view of disabilities and unwillingness to allocate appropriate resources further worsens the effects of disabilities. The two sides seem to be at an impasse and the fact that genetic counselors might applaud this court’s decision may only further contribute to this impasse.

We cannot ignore the voice of our critics.  I am not sure what the solution is. Prenatal diagnosis is unlikely to go away unless abortion becomes illegal again. If genetic counselors suddenly decided to pull out of prenatal diagnosis services, I suspect that informed patient decision-making would deteriorate and people with disabilities would lose one of their few potential advocates in the prenatal system.

As a profession and as individuals we need to reach out to our critics and find some common ground, such as the recently developed Open Lines forum where disability scholars, genetic counselors, parents, and people with disabilities can openly and safely discuss their perspectives. Surely the two sides are not as dysfunctional as the US Congress. It will be painful and difficult, but great achievements often require great suffering.

* – King County (Washington) Superior Court Case # 10-2-43289-2, Judgment Record # 13-9-35173-6 & 13-9-33521-8

Note: Some of the information in this posting is based on an article written by the plaintiffs’ lawyer (Gardner T, “Significant verdict in wrongful birth suit” Trial News, January 2014, pp. 9-11).

2 Comments

Filed under Robert Resta

Guest Post: Adrienne Asch – Reflections from a Genetic Counselor

by Katie Stoll

Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetic counseling.

We recently said good-bye to Adrienne Asch, a thoughtful and powerful voice in bioethics, disability, and reproductive rights. Adrienne passed away at her home in New York on November 19, 2013, surrounded by the love of many friends and family.

Adrienne touched my life deeply in the brief time I knew her and I am grateful to have had a connection with her. Her perspective has significantly shaped the way I view the genetic counseling profession and my role within it.

Adrienne was an accomplished scholar and an incredible person. Several beautiful tributes speak of character and her accomplishments, and these only give us a glimpse of her impressive body of work. See the The New York Times, as well as blogs related to philosophy, feminism, and bioethics for more about Adrienne.

Many genetic counselors are aware of Adrienne’s focus on the intersection of disability rights with reproductive technologies.   She was supportive of abortion rights, but questioned the implications of prenatal diagnosis and selection for disability rights, for individual parent expectations, and for humanity. She asked the question, if individuals with disabilities are not welcomed into family life, how can we expect inclusion in schools, in the work place, in society?

In her scholarly work, Adrienne spoke frequently about the parent-child relationship, and I had often wondered about her personal experiences as a child in this relationship. I came across the transcript of a fantastic interview with Adrienne conducted by Anna Kirkland at the University of Michigan, in 2006. I was delighted to find these insights into Adrienne’s own family life and it is heartening to realize that Adrienne’s views on this topic were in part shaped by her own childhood experiences of being supported to be true to herself:

“My parents taught me to think for myself and to be comfortable with who I was, even if people around me weren’t entirely comfortable with who I was either as a leftwing type or somebody who loved classical music, or someone who was Jewish, or someone who was blind. So they just taught me to be myself.” 

At one point the interviewer asking Adrienne if she had ever had the opportunity to address genetic counseling students. Adrienne has been an outspoken critic of prenatal diagnosis and this has made her quite a controversial figure among genetic counselors.

Anna: I’d be interested to know, have you ever had the opportunity to address a group of genetic counseling students or…or… 

Adrienne:  Yes. I have. 

Anna: Yeah. How did that go? 

Adrienne:  Not well. 

Anna: [laughs] What [laughs]…what did you say to them? 

Adrienne:  The same kind of thing I’m saying to you. But it challenges…I mean, maybe that I haven’t said it gently and kindly enough and I’m trying to do that. I have sympathy for how difficult it is to do this work. But I have no sympathy for people telling me that parents aren’t interested in this information or it’s not appropriate to give them the kinds of information that I’m describing. I think in fact that’s what genuine information is.

Recently, I had a chance to work closely with Adrienne when she helped to conceptualize a symposium for the National Society of Genetic Counselors Annual Education Conference, Reaching for Common Ground: Prenatal Genetic Counseling and Disability Equality. Although  Adrienne’s health prevented her from traveling to Los Angeles for the meeting, she was determined to hear all of the presentations live and to participate in the conversation. We achieved this through the technological miracles of cell phones, speakers and microphones for the entire 6 hour conference and this allowed her to both listen and contribute to the conversation.

In early October, she recorded a video for this conference and the National Society of Genetic Counselors has kindly allowed me to share it here. I encourage you all to take the time to listen to Adrienne’s final address to genetic counselors. I think she finds the balance she was striving for in being sympathetic to the difficulties inherent in the work of genetic counseling and remaining strong in her challenge to our profession to be more than genetic educators.

In genetic counseling, you have an enormously important role to play in helping prospective parents’ to think about the meaning for themselves of the genetic impairments or prenatally diagnosable impairments that they might discover in a fetus or an embryo.   And the role that you have to play is not genetics education alone.  It is genuine counseling.  It is counseling with a genetic component.  But it is dialogic counseling.  It is not merely reciting facts about laws and services and family support for people with Down syndrome.  It’s not reciting how wonderful it is and how loving the children are…It’s not reciting how terrible it is and how bad group homes might be.  It’s asking parents to think about the goals they have for their family life and how a child with characteristics that they can know in advanced will affect the achievement of those goals… The other reason you have a big job is that you are not given much time in which to do it. And all of the institutional forces work against that kind of conversation.  But I am urging that genetic counselors take their respective places as counselors to really help prospective parents think through what they want for their family life.  How a particular characteristic or impairment will affect that…

…Just as life is made up of many experiences that are shareable, you don’t need to have particular characteristics in common to share a life and to share experiences.  And you as a genetic counselor have an opportunity to communicate that to prospective parents. And ask prospective parents to think about what they want in their family’s lives.  And whether a child with a particular characteristic you can name in advanced will make the achievement of those goals any harder or any less possible. 

That’s a job of real counseling.  It’s not a job of imposing your values.  It can be as nondirective as you like but it is a job of asking questions maybe questions parents don’t want to be asked but that’s often true of any counseling.  No therapist worth his or her salt merely smiles and nods and says, “Ahah!”, and says, “I see what you mean”.  Therapy and counseling are about asking people to reflect and think twice or three times about the views and the values they are bringing to their lives.  You don’t have three years or 3 months or sometimes even 3 weeks to do that with the people in front of you.  But in the 45 minutes to an hour that you have, or if you’re lucky, more than that, you have a chance to communicate the joys of parenthood, the problems of parenthood, and the ways in which a child with any set of characteristics may or may not fulfill the goals that a parent has.”

Part of our fundamental core professional values as genetic counselors is to be non-directive in our counseling – not to decide the morally ‘right’ path for pour patients. We strive to support individuals to choose the path that they decide is right for them. Our responsibility as genetic counselors is to do our best to make certain that the decisions people make are as informed as possible.

What Adrienne helped to crystallize for me is that part of ensuring informed decisions requires inquiry into of the prospective parent’s expectations, hopes and dreams. It may also call for us to challenge misconceptions about how life with a disability is imagined and this may need to begin first with examining our own misconceptions and biases.

Adrienne certainly dismantled my preconceptions about life and limitations for someone who has been blind since shortly after birth. Although too short, her life was undeniably rich and full and her contributions were many. I imagine there are many DNA Exchange readers who have some interesting reflections about Adrienne of their own. I hope you will share them here.

2 Comments

Filed under Guest Blogger