Tag Archives: eugenics

by Robert Resta | February 15, 2023 · 1:47 PM

The American Society of Human Genetics Struggles to Face Its Past

Robert Resta and Diane B. Paul

Robert Resta is a retired genetic counselor and a regular contributor to The DNA Exchange. Diane B. Paul is Professor Emerita at the University of Massachusetts Boston and Associate in Organismic and Evolutionary Biology at Harvard University. She has published widely on historical and policy issues in genetics. Her books include Controlling Human Heredity: 1865 to the Present (1995), The Politics of Heredity: Essays on Eugenics, Biomedicine, and the Nature-Nurture Debate (1998), The PKU Paradox (with Jeffrey P. Brosco, MD, 2013), and an edited volume (with John Stenhouse and Hamish G. Spencer), Eugenics at the Edges of Empire: New Zealand, Australia, Canada and South Africa (2018).

The American Society of Human Genetics (ASHG) recently released Facing Our History – Building An Equitable Future Initiative, a report on the role of the organization and geneticists more generally in past injustices, including eugenics, sickle cell screening, and perpetuating inaccurate information about XYY syndrome and racial stereotypes about intelligence. About 3 years ago one of us (RR) authored a three-part series in this space that explored the role of eugenics in shaping the ASHG and the views of its leadership (Part 1, Part 2, Part 3). Some of that content was cited in the ASHG report.

There is much to be admired in ASHG’s willingness to acknowledge the roles the organization and its leadership played in respect both to eugenics and social injustice generally. However, the report also has several flaws. Here we focus our critique on our areas of interest and expertise – its account of the history of eugenics, which includes assertions that have been widely challenged by historians (without any acknowledgment of their contested status) as well as factual errors and omissions that skew interpretations. Here we discuss a few examples.

The Claim that Revelations of Nazi Atrocities Ended Support for Eugenics

In the summary of report themes (p. 4), the authors write that “after World War II and the realization of how American eugenic policies inspired the atrocities of Nazi Germany, public popularity of eugenics collapsed.” This claim is repeated in the section on “Origins of the American Eugenics Movement,” where readers are told that: “As the public learned how scientists and politicians in Nazi Germany used eugenic ideals to justify the atrocities and genocide they committed during the Holocaust, the public and scientific community became increasingly critical of and horrified by eugenics” (p. 10). But scholars have become increasingly skeptical of the view that World War II (WWII) represents such a turning-point. One source of skepticism is the fact that the trajectory of eugenic sterilization (which continued both in law and practice after WWII) does not even begin to square with this periodization. Another is the fact that many prominent scientists, such as Francis Crick, Linus Pauling, H.J. Muller, Julian Huxley, N.W. Pirie, and Peter Medawar (among others), and such influential theologians as Joseph Fletcher and Paul Ramsay, continued to argue for the need to control human reproduction – often explicitly under the rubric of eugenics — through at least the 1970s. Indeed, at conferences and in scientific and popular books and articles it was commonly argued that the need to control reproduction was now more urgent than in the past given expanded military and medical uses of radiation, resulting in an increasing “mutational load,” and advances in medicine that allowed individuals who would once have died before their childbearing years to survive and reproduce. The vocabulary of eugenics may have changed after WWII, but eugenics continued to play a key role in the writings and beliefs of many leading geneticists and other scholars.

Moreover, whether one thinks that eugenics (eventually) died or has continued in other guises depends crucially on how the term is understood. And understandings of what counts as eugenics have both shifted over time and remain contested. Thus, individuals who would have been considered – and considered themselves – to be critics of eugenics in the pre-WWII period, such as Lancelot Hogben and H.J. Muller, (because they criticized some of the scientific assumptions and/or racial and class biases that characterized establishment eugenics), would, by most current understandings of the term, count as eugenicists (because, among other things, they endorsed the sterilization of those with serious hereditary defects, a position that was then widely taken for granted, even by most self-defined critics).

Moreover, there is no consensus today as to what policies, practices, and beliefs should be considered “eugenic.” In one perspective, eugenics implies state control of reproduction, whereas in another, eugenics can be voluntary and even actively chosen by individuals influenced by social norms of health, intelligence, and physical attractiveness. From the latter standpoint, far from withering and dying, eugenics continued to flourish in other forms such as marriage counseling, population control, and the once common cost-savings rationale for prenatal testing (preventing the birth of individuals with disabilities), in the 1960s and ‘70s. (Until the 1980s, most studies of the effectiveness of genetic counseling measured its impact on the incidence of disability and/or the reproductive decisions of counselees). Moreover, in the perspective of those who believe that eugenics can be private, voluntary, non-racist, and scientifically up to date, it may also inform such current reproductive genetics practices as prenatal and preimplantation genetic testing.

That is not to assert that a broad definition of eugenics that encompasses these policies and practices is correct, only that to claim that eugenics was killed by revelations of Nazi atrocities is to implicitly take sides in what is in fact an intense and ongoing debate.

Claims about Eugenicists’ Beliefs

The report’s authors define eugenics as a belief that undesirable traits “could be eliminated from the population” through selective breeding. Such a definition puzzlingly excludes all “positive” policies and practices, which ranged from free love to the Nazi “Lebensborn” program. Moreover, few if any eugenicists after about 1920 thought that traits could be eliminated from populations. Edward M. East was the first to realize that most deleterious genes would be hidden in apparently normal carriers, who would not be touched by programs of segregation and sterilization. That insight was made much more precise after acceptance of the Hardy-Weinberg theorem, which allowed geneticists to calculate the effects of selection against those affected. Thus, eugenicists understood that traits like “feeblemindedness” could never be eliminated from the population, and that even reducing their incidence would be a slower process than they had once hoped (though they considered that project worthwhile).

Particularly puzzling is the inclusion of abortion in a list of policies meant to restrict breeding by the unfit (p.6). The claim that American eugenicists promoted abortion in the service of ridding the world of undesirables is now commonplace on right-wing antiabortion websites, blogs, and magazines and was central to Justice Clarence Thomas’s concurring opinion in the 2019 case of Kristina Box, Indiana v Planned Parenthood. Thomas’s claim that eugenics and abortion were linked from the start was denounced by a raft of historians, who know that, for multiple reasons, prominent American eugenicists had almost nothing to say about abortion and that what they did say was generally highly critical. Thus, according to the Eugenics Catechism issued by the American Eugenics Society in 1926: “Abortion is murder and no eugenist advocates it except to save the life of the mother.” Interviewed by the Washington Post, historian and lawyer Paul Lombardo said: “I’ve been studying this stuff for 40 years, and I’ve never been able to find a leader of the eugenics movement that came out and said they supported abortion.” Why the ASHG would want to give credence to this influential but discredited claim is a mystery.

The Characterization of H.J. Muller

The most egregiously distorted commentary concerns H.J. Muller, who is presented simply as a critic of eugenics. According to the authors of the report: “While some ASHG presidents embraced eugenic ideals and practices, others were critical of eugenics based on its reliance on racism and coercive practices. In 1932, H.J. Muller (ASHG President, 1948), criticized the eugenics movement during the Third International Eugenics Congress, stating that it was ‘the naïve doctrine that the economically dominant classes, races, and individuals are genetically superior.’ In the preface to the first issue of the American Journal of Human Genetics, Muller continued to criticize eugenics for its purpose of ‘translating biological prejudice into action,’ by promoting classist and racist ideals that have no basis in genetics.” This is true as far as it goes but is also markedly one-sided and misleading.

Throughout his life, Muller was a passionate advocate of the need to control human evolution. His sympathetic biographer, Elof Carlson, notes that eugenics was “the leitmotif of Muller’s life.” Muller was also, especially in the 1920s and ‘30s, a critic of some aspects of eugenics under capitalism. But it is worth noting that even in his famous 1932 critique, The Dominance of Economics over Eugenics, from which the report quotes, Muller wrote: “That imbeciles should be sterilized is of course unquestionable.” And indeed, as noted earlier, at that time few if any scientists would have dissented from that comment.

Perhaps the best-known American proponent of “Bolshevik” eugenics, Muller held that only in a society not stratified into classes – as he believed was true of the Soviet Union and hoped would eventually be true of the United States – could the effects of nature and nurture be separated, and a truly efficacious eugenics program implemented. In 1925, he authored a eugenic manifesto, Out of the Night (finally published in 1935), in which he proposed a program for the mass insemination of women with sperm of men superior in intellect and character, a program that he argued would rapidly raise the level of the whole population. Emigrating to the Soviet Union in 1934, he tried and failed spectacularly to interest Josef Stalin in his proposal and ended up fleeing the country. But in the 1960s, he resurrected a version of that proposal — now called “germinal choice” — to emphasize its voluntary character. His 1949 presidential address to the newly-founded ASHG, titled Our Load of Mutations, argued that an ever-increasing load of deleterious mutations would ultimately destroy the human race as we know it. To counter this degeneration, Muller outlined a scheme where the most burdened 3% of population would voluntarily refrain from reproducing. Thus, Muller’s views illustrate the difficulty of dividing individuals into two mutually-exclusive groups, eugenicists and their critics. Muller was both, as were many of his scientific colleagues.

Why Did It Take So Long?

The report itself makes no new significant contributions to the history of eugenics. The role of ASHG and its leadership in eugenics has been well documented for over 30 years. Why has it taken so long for ASHG to acknowledge this history? One could argue that the time was now ripe for such a reckoning – after all, social justice occupies a large space in the current public dialogue. But that does not explain why the ASHG’s involvement in eugenics has largely been ignored until now. It’s not like the published history was obscure or written in abstruse scholarly lingo. Much of the work in the field is highly readable and readily available through search engines and on library’s shelves. It’s a pity that the ASHG report does not address the question of why it took the organization so long to officially acknowledge this history.

Our critique of the ASHG report is not simply a matter of correcting minor historical details. Although the society is to be commended for making an effort to come to grips with its past, much of its eugenics narrative is dated and simplistic. Without a more complete and nuanced understanding of this history, ASHG cannot truly face its past.

The American Plan: The Incarceration and Forced Treatment of “Good Time Girls”

Every girl under supervision, we know where she works, who her friends are, and how she puts in her time….While the girls are in the hospital, we grade her mentally, and make a detailed social investigation… Her mental grading helps us in determining what she can do… We are locking up just as many feeble-minded girls as we can. – Katharine Ostrander, Michigan State Board of Health, Director of Social Services (1919)

I recently became aware of a little known chapter in 20th century American history known as The American Plan, a chapter so creepy it could have been written by Margaret Atwood. While it is not directly connected to genetic counseling, the usual focus of this blog, as you will see it does intersect with eugenics. I feel it is shocking enough that it should be brought to the attention of the blog’s Good Readers; I suspect that many will be as stunned and surprised as I was. Most of what I have to say is drawn from Scott W. Stern’s 2018 book The Trials of Nina McCall – Sex, Surveillance, and the Decades-Long Plan To Imprison “Promiscuous” Women. Please note that in the posting I am using the historical vocabulary of that time period to capture the zeitgeist of America in the first part of the 20th century.

The US entry into the First World War resulted in the drafting of nearly 3 million men into the military. Draftees were administered, among other things, an IQ test and a physical exam for social diseases, as sexually transmitted infections (STIs) were euphemistically labeled at the time (even the US Surgeon General was not allowed to say “syphilis” on a radio broadcast). The results were alarming – a substantial number of draftees had a very low IQ and a high incidence of social diseases. We looked like a nation whose men were sex-crazed morons (“moron” was a supposedly objective scientific category based on low IQ score). Perhaps many readers are thinking “Well, yeah, men haven’t changed much in the last 100 years”.

Military and political leaders were concerned that the US fighting force would be defeated by its own diseases. To combat social disease the US government enacted The American Plan, based on similar plans from European countries. Some readers may be familiar with the cheesy posters warning soldiers in both World Wars of the dangers of venereal diseases but these smile-inducing graphics belie a dark side to some of the strategies employed by The American Plan. In an attempt to “protect” the troops from syphilis and the like, a range of laws and policies on the federal, state, and local levels were enacted that gave authorities and even some civilian entities almost blanket permission to arrest, isolate, examine, treat, and reform anyone suspected of spreading social diseases. Although the initial focus was intended to be communities near military camps, it soon spread to many towns and cities throughout the country, regardless of their proximity to military facilities. Every state and hundreds of cities and towns passed nearly identical versions of American Plan laws.

Essentially, any woman suspected – not convicted – of being a prostitute, engaging in “promiscuous behavior,” premarital sex, or other “suspicious behavior” could be forced to undergo an invasive pelvic exam, almost always by a male physician. If the physician decided that the the person had evidence of a a social disease, they could be confined to an institution – a jail, a hospital, a “reformatory,” depending on local conditions. Whatever building or camp was used, the women were incarcerated, plain and simple. Once incarcertated they were forced to undergo largely ineffective, painful, and toxic treatments with a mercury- or arsenic-based regimen. This even though diagnosis was rarely definitive unless the person had flagrant disease; indeed, some women were diagnosed as being “slightly infected,” whatever that means. For good measure, many were also given IQ tests, and if they scored low enough they could be forced to undergo sterilization under some state eugenic laws. There was also a profit motive to incarcerating women; the Federal Government provided money to the states, and states passed the funds on to local authorities, with the amount depending on how many women were detained.

The policy was not limited to brothels and known prostitutes, who in fact usually had a low incidence of social diseases. Women of any age were forced into the program, including young teens and even pre-teens. It is astounding what could be labeled as a “suspicious behavior.” One woman was detained because a vengeful former boss reported her as sexually suspect after she quit her job. Another was detained after she volunteered as a witness to a car theft. Another was detained because she was on a date with a man who was drinking alcohol. Think about this. A woman might be flirting with a couple of guys in a dance hall or soda shop or go out for a drink on her own, or just be walking down the street in Anytown, USA in a “suspicious” manner and she could be forced to undergo a painful pelvic exam by a physician, confined to a treatment center for an indefinite period based on faulty testing and disease criteria, and then made to endure painful, debilitating and largely ineffective treatment until such time that the authorities had decided that she was cured and socially reformed. These incarcerations helped shape the modern American women’s carceral system, which currently has nearly a quarter million women within its walls.

It was felt that if women were reformed they would not return to their former loose life styles. Reform usually meant making them clean, cook, sew, and perform other activities – mostly to maintain the institutions where they were being incarcerated – that were thought be be appropriate for proper women. Authorities had the power to hold the women for days, weeks, or months until such time as it was decided that they were deemed medically and socially fit to re-enter society. Even after release, women could be required to check in with institutional directors for permission if they wanted to move, get a job, or even to get married. Some directors asked employers to monitor released inmates’ behavior and report suspected relapses.

The American Plan continued to be actively enforced for ~30 years until the end of WWII and the advent of antibiotic treatment, though there are reports of abuses until the 1960s (in 1965, the then 18 year old writer and radical feminist Andrea Dworkin was forced to undergo a painful pelvic exam under New York’s American Plan law when she was arrested at an anti-war demonstration). Not to worry anybody, but these laws are still on the books in most states and cities.

Black women, Native American women, immigrant, and Latinx women were disproportionately singled out. Non-white women were said to have the racial characteristics of excessive promiscuity and – according to the Surgeon General of the United States! – to be anatomically susceptible to spreading social diseases. The laws were written as largely gender-neutral but men were only rarely singled out, and then usually just treated rather than detained for a prolonged period. The laws glossed over how men can transmit social diseases to other men; homosexuality was not something to acknowledge or discuss and, besides, it was already illegal in most states.

Because many records have been destroyed, the exact number of women subjected to this practice is not known, but at minimum it involved tens of thousands of women. Despite all this enforcement, the architects and enforcers of The American Plan were never able to demonstrate that it was effective in lowering the incidence of social diseases.

The American Plan was not some dark government secret known only to an elite few insiders. It was widely reported and supported in newspapers and politicians of all bents, including Presidents, condoned it. Supporters – men and women alike – could be found across the political spectrum but there was particularly strong support among Progressives and liberals – the American Civil Liberties Union, the American Bar Association, Eleanor Roosevelt, Earl Warren (who would go on to become a liberal Chief Justice of the US Supreme Court), the League of Women Voters, to name a few. Some of these supporters criticized some specifics of the American Plan but they were not opposed to The American Plan itself. At the other end of the spectrum, Eliot Ness, he of The Untouchables, was actively involved in carrying out the plan at one point, as was J. Edgar Hoover and the FBI. They all pretty much thought they were doing good for society and helping women. Many of the key players in developing and carrying out The American Plan also subscribed to eugenic beliefs and were members of eugenics societies. A source of consistent and significant financial support for many of the activities, beyond governments, was John D. Rockefeller, Jr., and the Rockefeller Foundation (the Rockefellers also helped fund the Eugenics Record Office). Even when law suits were brought by women who had been incarcerated, the decisions sometimes supported a woman’s claims in a few cases but the legal validity of The American Plan itself was never questioned by the courts.

The primary non-governmental agency driving The American Plan was the American Social Hygiene Association (ASHA). Formed in 1913 with Rockefeller funding, the ASHA essentially crafted the details of The American Plan, provided expert advice to the government, employed undercover agents in cities to hunt out suspicious locations and field workers who would work with local police in coordinating arrests, and crafted model legislation that was adopted almost verbatim by most states. The organization also pushed for enforcement of American Plan laws beyond primarily protecting soldiers to protecting the general public. ASHA has since changed its name and is now called the American Sexual Health Association, and its activities and goals are quite different and perhaps more noble than those of its predecessor. However, its website makes no acknowledgement of this shameful history and has only this to say about its past:

“ASHA was founded as the American Social Hygiene Association in 1914 by a group of public health reformers committed to attacking an undesirable social condition–venereal disease, or VD–that they believed could be improved through medical and educational means. The shame and reluctance to talk about sexuality was now weakened enough so that the public was at least generally aware of the dangers posed by VD. This was the first social marketing effort to mix physical and moral fitness for prevention of VD.”

I am in no position to speak for the ASHA but if I were a member I would want my organization to be more honest, open, and reflective about its past.

I am reluctant to draw lessons from history and I am hesitant about judging the past through the lens of the present. With such widespread and enthusiastic support for The American Plan, if we were alive then many of us might have been swept up by the social currents of the times and supported it in some fashion, just like many of us would probably have embraced some aspects of eugenics. We are not morally superior to our ancestors and we are all products of our times. That being said, this was a gross injustice carried out in the name of “doing good.” It needs to be more widely known and subjected to scholarly investigation and a national dialogue, at the very least.

When you are so convinced that you are doing good it can blind you to your actions’ downsides. As I’ve written about before, genetic counselors are particularly susceptible to “do-goodism.” What looks progressive to one generation can look awfully repressive to another generation. When we seek to do good, we should do so with humility, an eye to history, and a keen awareness that when we try to do good we can wind up doing a lot of bad.

For an interview with author Scott Stern about The American Plan on YouTube https://www.youtube.com/watch?v=_p0LjJ8tTh0

For a podcast about this topic, see the History This Week Podcast: https://play.acast.com/s/d9768fa0-a79a-4ead-9102-f965e8a470bc/82177119-c36c-4a67-b906-94ae38000416

Unrelated to the above posting, I recently had a thirst for a dose of spirituality, a thirst perhaps driven by the existential wear and tear of the last few years. I am not a religious person – I am pretty much a we-are-all-star-stuff kind of person – but I do derive a deep satisfaction from contemplating the magic of life and the incomprehensible complexity of the universe. Which got me to thinking of the Indigenous Canadian singer Buffy Sainte-Marie’s 1969 song “God Is Alive, Magic is Afoot.” The lyrics are taken from a section of the poet Leonard Cohen’s novel Beautiful Losers. As far as I know, Leonard Cohen never recorded it as a song. Incidentally, Buffy Sainte-Marie’s music was unofficially blacklisted in the US for a period because of her anti-war activities and her involvement with the Native American political movement. Honestly, the song doesn’t make much cognitive sense to me, but it does make intuitive sense. In particular, the closing lines always give a jolt to my sense of wonder:

And mind itself is magic coursing through the flesh
And flesh itself is magic dancing on a clock
And time itself, the magic length of God

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Tagged as eugenics, social diseases, The American Plan, venereal disease

by Robert Resta | July 6, 2020 · 11:58 AM

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.

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Filed under Robert Resta

Tagged as disability community, disability rights, eugenics, Genetic counseling, medical genetics, prenatal diagnosis

by Robert Resta | June 28, 2020 · 6:08 PM

Selective Amnesia, Part 2: Guardians of The Gene Pool

A few weeks ago in this space, drawing on the research of others, I wrote about how geneticists have created a collective memory of eugenics in which they put all the “bad” eugenics behind us after World War II and moved on to the enlightened modern era. I discussed how in fact notable historical figures Franz Kallmann, William Allan, and C. Nash Herndon actively espoused eugenic policies from the 1940s through the 1960s. Here, in Part 2, I highlight more connections between the American Society of Human Genetics (ASHG) and eugenics to make it clear that support for eugenic policies and beliefs was common among geneticists. Kallmann, Allan, and Nash were not a lone trio of eugenic stragglers who were still mired in a questionable ethical past.

Let’s start by following the money. Post-WWII geneticists may have claimed to reject eugenics, but they had no problem with accepting money from eugenically oriented funding sources. As Nathaniel Comfort notes in The Science of Human Perfection, eugenic organizations were tapped to fund the establishment of the American Journal of Human Genetics. Part of the funding for the journal was arranged by the eugenicist Frederick Osborn through the Association for Research in Human Heredity, which was formerly the Eugenics Research Association of the Eugenics Record Office in Cold Spring Harbor, NY. The remaining funds were supplied by Wickliffe Draper’s Pioneer Fund, established in 1937 to be one of the primary funders of eugenic research (it continued to support racist and eugenic research into the 21st century). There was even discussion of using a picture of Charles Davenport or Barbara Burks (a researcher in psychiatry who spent several years at the Eugenics Record Office and who has a fascinating biography) for the journal’s frontispiece. During the 1950s, Charles M. Goethe, another wealthy eugenics benefactor, sent small annual checks to the ASHG treasurer to purchase gift memberships for students with high IQs and thus good breeding stock “while he [the student] accepts the responsibility of fathering at least 3 children.”

Post-WWII geneticists took the racist and elitist policies espoused by the most notorious conservative eugenicists and transformed them into a crusade dedicated to reducing human suffering and ensuring the “health of the gene pool.” Instead of vitriol directed at immigrants and their “defective germ plasm,” geneticists fretted that the human gene pool was degenerating, i.e., our genetic load, as the result of a trifecta of forces including existing mutations that were already part of the human breeding pool, new mutations induced by ionizing radiation due primarily to the proliferation of nuclear weapons, and the relaxation of natural selection in humans due to improvements in medical care and living conditions that allowed people with illness-predisposing mutations to survive and reproduce. They sometimes argued that the very future of humanity hinged on keeping the gene pool healthy, along with cost-savings from eliminating mutant genes. Even James Neel, a strong critic of conservative eugenics, titled his 1994 autobiography Physician To The Gene Pool. If the gene pool wasn’t sick or threatened, presumably it would not need a physician to tend to it.

Of the three factors alleged to be threatening to increase the genetic load, medical geneticists could exercise some measure of control over the existing mutation frequency. They argued that if parents were properly counseled then high risk couples would refrain from having children with genetic disorders, thus reducing the impact of genetic disease on the population. Conversely, low risk couples would have more children, improving the overall gene pool. You didn’t have to make people refrain from reproduction by force or sterilization. You just need to wisely educate them and let them see the light on their own.

There was widespread support among the genetics community for this reframed and reformulated eugenics. Below are illustrative quotes by other ASHG presidents (some of which come from a 1997 paper by science historian Diane Paul):

Herman Muller (ASHG President, 1949; Nobel Prize Winner, 1946): “It is shown that the only means by which the effects of the genetic load can be lightened permanently and securely is by the coupling of ameliorative techniques, such as medicine, with a rationally directed guidance of reproduction. In other words, the latter procedure is a necessary complement to medicine, and to the other practices of civilization, if they are not to defeat their own purposes, and it is in the end equally as important for our health and well-being as all of them together.

Sheldon Reed (ASHG President 1956): “People of normal mentality who thoroughly understand the genetics of their problems, will behave in the way that seems correct to society as a whole.”

Curt Stern (ASHG President, 1957): “In the course of time…. the control by man of his own biological evolution will become imperative…”

James F. Crow (ASHG President, 1963): “How far should we defend the right of a parent to produce a child that is painfully diseased, condemned to an early death, or mentally retarded?”

Bentley Glass (ASHG President, 1967; President of the American Association for The Advancement of Science, 1969), writing in 1971: “Whether advice or compulsion is to be used by society in these cases would seem to rest with the severity of the condition. If the prospective defect is one that would leave a baby a hopeless imbecile or idiot throughout life and a ward on society, or cause it to be born without limbs, or make it otherwise gravely defective, avoidance of parenthood ought to be mandatory.”

You might argue angels-dancing-on-a-pinhead that these statements are not eugenic philosophies sensu strictu. Maybe you could make a half-convincing argument to that effect. But that sounds like denial to me. Davenport, Harry Laughlin, and the other pre-WWII eugenicists would have recognized and supported any of the above pronouncements.

But let me be clear. This is not a simple story of ethically challenged geneticists pushing an intentionally evil agenda. These were good people from across the political spectrum who believed they were trying to do good for their patients and society. Just like us. And, just like us, they recognized the psychological and emotional impact of genetic disorders on patients and families. As the historian Marion Schmidt notes, Franz Kallmann, former member of the German Society for Racial Hygiene who advocated sterilizing the families of patients with psychiatric disease, urged genetic counselors to understand patients’ “fears and hopes, defenses and rationalizations” and to develop an “empathetic understanding of the motives and capacities of the person who comes for help.” Foreshadowing 21st century calls for genetic counseling to be conducted as a form of psychotherapy, Kallmann viewed genetic counseling as “short-term psychotherapy aimed at reducing anxiety and tension,” albeit with the ultimate goal of producing “a well-planned family [that was] indispensable as a biological, social and cultural unit from a eugenic standpoint and a unique source of pride and stability for the individual.”

I don’t mean to imply that ASHG is or was ever an unethical, sinister eugenic organization. However, as the primary professional organization for geneticists, ASHG’s history reflects the history of the philosophy, ethics, and practice of medical genetics. As much as we may want to ignore that history and keep it safely behind us, it is embedded, if you will, in the DNA of the profession.

In the third and final part of this series of postings, I will trace these eugenic threads up to current day practice to help us better understand the complicated and at times antagonistic relationship between medical genetics and people with disabilities, their families, and their advocates.

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Tagged as American Journal of Human Genetics, American Society of Human Genetics, ASHG, eugenics, Genetic counseling, medical genetics

by Robert Resta | June 12, 2020 · 7:45 PM

A Selective Amnesia – Sterilizing The History Of Genetics

We may be in the midst of a critical historical turning point in social justice. The confluence of the Black Lives Matter movement, #MeToo, and the COVID pandemic has led to the re-evaluation and re-surfacing of abuses, injustices, biases, and plain old hatred. Jimi Hendrix’s take on The Star Spangled Banner seems to be the right musical score for the moment.

Perhaps then this is a good time for geneticists to look in our own closet and assess some skeletons that we know are there but seem to prefer to ignore or downplay. A good place to start is with the American Society of Human Genetics (ASHG), one of the oldest and largest professional human genetics organizations.

So what is my gripe with ASHG, an organization I admire and respect? It all started when I used an internet search engine to look for the ASHG website to obtain information about the 2020 annual conference. Here is what popped up on my screen:

What caught my eye was the name right there in bright blue in the next to last line – Franz Josef Kallmann. Kallmann – more accurately, co-founder of ASHG, not founder – served as ASHG president in 1952. He is well known for his pioneering research in psychiatric genetics and who during his lifetime was respected by colleagues and a mentor to many.

But there is a darkness in his past. Kallman was born in Germany and eventually trained under Ernst Rüdin, who Adolf Hitler himself described as “the pioneer of the racial-hygienic measures of the Third Reich.” Under Rüdin’s influence, Kallman became an active supporter of Nazi policies and a member of the German Society of Racial Hygiene. In 1935 he gave a talk at the International Congress for Population Science in which he suggested that the mandatory sterilization programs of “defective” individuals should be extended to unaffected relatives of people with psychiatric disorders:

“…in regard to the recessivity and belated manifestations of the schizophrenic disposition, it is desirable to extend prevention of reproduction to relatives of schizophrenics… and above all to realize this intervention for those undesirable from the eugenic point of view at the beginning of their reproductive years” (italics added).

Ironically, Kallman, who was raised Jewish but who converted to Protestantism, was forced to flee Nazi Germany because of his ancestry. Even Rüdin couldn’t protect him. Once in America, Kallman, uh, reframed his life story by portraying himself as a victim of the Nazis. Nonetheless, he continued to support radical eugenic policies. As he wrote in a 1938 article, after fleeing Germany:

“From a eugenic point of view, it is particularly disastrous that these [schizophrenic] patients not only continue to crowd mental hospitals all over the world, but also afford, to society as a whole, an unceasing source of maladjusted cranks, asocial eccentrics, and the lowest types of criminal offenders.”

Kallmann remained a lifelong proponent of eugenics and maintained collaborations with Nazi colleagues through the 1940s. He served on the Board of Directors of the American Eugenics Society from the mid-1950s until 1965, the year he died. Furthermore, his views on homosexuality were on par with his views of mental illness, as demonstrated by this quote from an article he authored in the American Journal of Human Genetics in 1952:

“The urgency of such work [on genetic aspects of homosexuality] is undeniable as long as this aberrant type of behavior continues to be an inexhaustible source of unhappiness, discontentment, and a distorted sense of human values.”

I don’t think you can cite that statement as an example of implicit bias.

Kallmann was not an outlier when it comes to individuals associated with ASHG who espoused such policies and beliefs. Two others in particular stand out – William Allan and his protege C. Nash Herndon, who established the country’s first medical genetics clinic in North Carolina and made significant contributions to medical genetics as a clinical practice and as a profession. Herndon was president of ASHG in 1955. In 1961, ASHG paid homage to Allan when they created the William Allan Award in Allan’s memory (he died in 1943) “to recognize substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity.”

Herndon and Allan also played an active role in North Carolina’s robust eugenic sterilization program in the 1940s and 1950s (sterilizations continued through the 1980s). Nathaniel Comfort, in his book The Science of Human Perfection, notes that Herndon described the program as a “gradual, but systematic effort to eliminate certain genetically unfit strains from the local population“ of Forsyth County. Herndon actually performed some of these sterilizations himself. The program itself was fairly aggressive. As Herndon wrote:

“We would see the targeted parents and children there [North Carolina Baptist Hospital]. I.Q. tests were run on all the children in the Winston-Salem public school system. Only the ones who scored really low were targeted for sterilization, the real bottom of the barrel, like below 70.”

Allan, on the other hand, was less concerned about “feeble-mindedness,” which he felt did not have a significant hereditary basis. But traits with a strong genetic basis were a different story. Writing to Herndon in 1942 he declares: “Good old retinitis pigmentosa we can to go town on, since it is 100% hereditary.”

In addition to being president of ASHG, from 1955-1959 Herndon served as the president of the Human Betterment League of North Carolina, a branch of the Human Betterment Foundation (a national organization devoted to, among other things, preventing mental deficiency through sterilization) and president of the American Eugenics Society, an organization founded in 1926 by Madison Grant and Harry Laughlin, two of the most extreme American eugenicists.

Let me ask you ASHG membership and leadership, is Kallmann the name you want to represent your organization every time someone uses a search engine to find your society’s home page? Do you want an award named after someone, no matter how prominent, who so actively pushed for eugenic sterilization? Do you at least want to have something on your website that addresses these matters? As a non-member, it’s not for me to tell you how to handle this, but don’t you think you should do something? Yes, I know I am judging the past by today’s standards. I am sure that Kallmann, Herndon, and Allan thought they were doing good, not bad; they probably never thought to ask for forgiveness. History and people are complicated. No one is a saint, not even the saints. No doubt in 50 years someone will look back with a similarly critical eye on how the genetic profession practices today. But advocating for mandatory sterilization in Nazi Germany and North Carolina and expressing professional disdain for homosexuality crosses ethical lines in any era. And don’t tell me that because it happened some 60 or 70 years ago, it no longer matters. We don’t live in the past but the past will always live with us.

None of this information is new. All of this has been written about before by scholars and researchers. I have been reading about it for decades. None of it required delving into obscure archives or interviewing historical figures. You can pretty much find it all with a couple of hours of PubMed and Google searches. It’s out there for anyone to see. Perhaps out of ethical convenience, though, the inaccurate story that we like to tell is that all that bad eugenics stuff took place before World War II, everyone got horrified by the Nazi atrocities, the underlying genetics was bad, then everyone saw the light, and all that bad stuff was behind us to serve as a moral lesson for future generations. Nice story, but wrong on the details. Many prominent geneticists remained active proponents of eugenic policies for decades after the war. They just didn’t call it eugenics or portrayed it as kinder, gentler eugenics. Or just ignored it altogether. It’s time to stop ignoring.

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Tagged as American Society of Human Genetics, ASHG, C. Nash Herndon, eugenic sterilization, eugenics, Franz Kallmann, mandatory sterilization, sterilization, William Allan

by Robert Resta | January 20, 2019 · 6:36 PM

The Benefits and Blinders of Do-Goodism

“All human beings are commingled out of good and evil.” Robert Louis Stevenson, author of The Strange Case of Dr. Jekyll and Mr.Hyde

Genetic counselors are good people who want to do good. And that also goes for the vast majority of clinicians in all specialties and support staff who I have ever worked with. We may have brief dalliances with cynicism but overall we strive to be highly competent professionals who deliver compassionate care to patients in hopes of improving their physical and emotional health in small and large ways. We subscribe to the ethos of Do-Goodism – we strive to do good because it is the right thing to do. It’s why we drag ourselves out of bed and show up for work every day. It sure isn’t out of love for the daily commute, an overloaded work schedule, or the out-of-touch-with-reality dictates of upper level management.

Do-Goodism is a, well, good thing. There should be lots more of it in the world (especially among governments). But Do-Goodism has its downsides. Okay, let me stop right there. I am not criticizing Do-Goodism nor am I advocating for D0-Badism. So don’t accuse me of criticizing people for being good. But a problem inherent to Do-Goodism is that can make it very difficult for us to see and acknowledge that when we try to do good things there can be bad outcomes. Our Good Filters block out the Bad Rays generated by our well-meaning actions. Recall what the road to you-know-where is paved with.

A good historical example of the blinders of Do-Goodism is eugenics, that bogeyman of every historical narrative of genetics. While nowadays we look down on eugenics with moral scorn, in fact, with a few obvious exceptions, many eugenics advocates in the US, the UK, and elsewhere genuinely thought they were improving not only the greater good of society but also the “dysgenic” families themselves. Philosophically, eugenics may have been closer to “a kind of genetic social work” than Sheldon Reed would have been comfortable acknowledging. Another historical example are the 19th century alienists who ran the so-called madhouses – whose records were critical to the development of modern genetics and eugenics – where “lunatics” were housed and supposedly cured with fantastical rates of supposed psychiatric problems such as masturbation and menstrual disorders.

https://www.theparisreview.org/blog/2015/04/22/madness-and-meaning/

Br. Benjamin Rush’s Tranquilizer for treating patients with mental illness. It “binds and confines every part of the body … Its effects have been truly delightful to me. It acts as a sedative to the tongue and temper as well as to the blood vessels.”

Do-Goodism still pervades genetic practice today, albeit in different forms. We sometimes advances policies, practices, and tests in the name of “helping people” when the benefit/downside ratio has not been well established. In my own practice of cancer genetic counseling, I think of how seamlessly BRCA testing has expanded to gene panels that include dozens of genes, many of which are of uncertain clinical utility. Even after ~25 years of research on BRCA we still debate the lifetime cancer risks, the mortality reduction of risk-reducing mastectomy, and the benefits of endocrine prophylaxis. In the US, Lynch syndrome patients are encouraged to join The Annual Colonoscopy for Life Club but the data is still not settled as to whether an annual colonoscopy is more beneficial than less frequent exams . And these are the genes that we know fairly well. The clinical implications and best risk-reducing strategies for carriers of other typically tested genes like NBN, RAD51D, or BARD1 are pretty much anyone’s educated guess.

There are complex reasons why gene panel testing has become so widely incorporated into medical care. but I am pretty sure one of the motivating reasons we offer panel testing is that we think that by “finding an answer” to explain the family history, we are benefiting our patients. But are we really helping these patients by offering breast MRI screening with its high cost and false positive findings, risk-reducing surgeries, etc.? Are we explaining their family histories with these tests? Maybe we are, maybe we aren’t. We should have had that answer in hand before the testing was incorporated into clinical practice instead of turning a bunch of clinical patients into an unplanned and haphazard research project.

This was brought into sharp focus for me with a BRCA positive kindred I have been working with. A family member was identified as an asymptomatic BRCA mutation carrier, subsequently underwent risk-reducing surgery, and an occult Fallopian tube cancer was identified at an early enough stage that cure was highly likely. This made me feel like I should notch a victory mark on my belt. After all, preventing ovarian cancer is understandably offered as one of the urgent justifications of BRCA testing. I felt that I pulled the rug out from under ovarian cancer’s evil legs – until the patient died of complications of MRSA acquired during her hospital stay. And this in a situation where everyone would agree that the data strongly supports surgical risk-reduction. Should we be risking such outcomes by offering testing for genes in which there is no large body of research to support clinical recommendations?

Do-Goodism also pervades other areas of genetic testing and counseling. Expanded carrier screening. Noninvasive Prenatal Testing. Advocating for whole exome sequencing of newborns or of healthy adults. Direct-to-Consumer genetic testing. Clinicians and labs offer these tests in the name of helping people and democratizing genetic testing, but this can lead us to psychologically manipulate ourselves into ignoring or downplaying studies that suggest that maybe we should step back before we aggressively offer these tests. The blinders of Do-Goodism can be further exacerbated when our jobs seem to compel us to offer bigger and supposedly better tests to keep up patient volumes or corporate profits. Do-Goodism is not confined to genetics, of course. It also underlies long-standing debates about routine mammography, PSA screening for prostate cancer, and cardiac defibrillators in medically fragile elderly patients, to name a few.

We are not bad clinicians or evil profiteers, just human beings struggling with our psychological limitations. It’s why we need to thoughtfully listen to thoughtful critics who question our clinical practices. They make some very good points but only if we can allow ourselves to see them.

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by Robert Resta | August 11, 2013 · 8:11 PM

Albatross

Ah! well a-day! what evil looks

Had I from old and young!

Instead of the cross, the Albatross

About my neck was hung.

And till my ghastly tale is told,

This heart within me burns

He went like one that hath been stunned,

And is of sense forlorn:

A sadder and a wiser man,

He rose the morrow morn.

– Excerpts from The Rime of The Ancient Mariner, by Samuel Taylor Coleridge

Eugenics. I can hear the thud as the collective eyes of genetic counselors roll heavily at the mention of the E-word. That finger has been wagged in our faces ad infinitum. Alright already, we have learned our lesson from this shameful past. That was like more than half a century ago. Do we have to still keep apologizing for something we never did? Enough with the hand-wringing and perseveration. We’ve smoked this one down to the filter.

Well, no, apparently we are not done. As historian of medical genetics Nathaniel Comfort has pointed out in a recent thoughtful Genotopia blog (with an equally thoughtful commentary by Alex Stern, the biographer of our profession), eugenics discussions are back with us. We need to keep having the discussion because apparently we are not sadder and wiser people this morn. Some even think – with great hubris, in my view – that with our supposedly greater wisdom and technological advances, maybe some version of eugenics is not such a bad idea after all.

I am not going to repeat Nathaniel’s and Alex’s arguments here; visit the Genotopia blog and read the originals. What I want to do is to offer a framework for thinking about the issues raised by these historians and introduce the concept of genetic discrimination into the mix.

Genetic discrimination, in my definition, is discrimination based on a person’s presumed or actual genotype and it’s presumed or actual phenotypic expression. The word discrimination comes from the Late Latin discriminationem, meaning “to make distinctions” and can have both negative and positive connotations. Racial and gender discrimination that results in suffering and inequity is bad. But a discriminating person is one who shows great taste for fine things. Not to try to dance too many angels and devils on the head of this pin, but perhaps when discrimination has a negative effect, it could be called dyscrimination.

Eugenics, then, can be viewed as a form of negative genetic discrimination, the goal of which is to improve the genetic health (whatever that means) of future generations.

Prenatal diagnosis, the usual aim of eugenic critiques, is not eugenic because it does not try to alter allele frequencies of future generations. Down syndrome is almost never an inherited disorder, and people with Down syndrome rarely reproduce. Prenatal diagnosis is not an attempt at “the self direction of human evolution,” as the 1921 Second International Eugenics Congress defined eugenics. But from the standpoint of some, prenatal diagnosis is a form of negative genetic discrimination – fetuses are discriminated against because of their genome and the common but inaccurate perception of the Down syndrome phenotype as a backward child with a heart defect but a pleasant personality. Although the insensitive term mongolism is rare these days, the common image of “the Mongol child” has not evolved as much as it should have.

Pre- or early pregnancy screening of parents for mutation carrier status for various genetic conditions, on the other hand, might rightfully come under eugenic criticism since its explicit goal is to improve the genetic health of future generations and to wipe out genetic diseases by preventing the conception of homozygous recessive offspring. Never mind the nonsense spewed forth on some websites; carrier screening usually has very little to do with improving the health and quality of life of babies who are born with genetic conditions. Carrier screening can result in reduced suffering if fewer children are born with life threatening or medically serious disorders but it rarely improves the health of babies who are born with those conditions. Whether this is a “good” or a “bad” form of eugenics, and how commercial laboratories advertise their product, are questions open to healthy debate.

Newborn screening, as it is currently practiced, is not eugenic because its intent is to improve the health of a child by treating the presumed phenotype based on the genotype. Newborn screening could thus be viewed as a positive form of discrimination, albeit one with flaws that we are not comfortable acknowledging . But newborn screening can also be viewed as negative genetic discrimination, depending on the condition being screened for. Some people who are deaf have raised serious concerns about screening newborns for hearing loss.

Genetic screening for adult onset disorders like Lynch syndrome or familial hypercholesterolemia may be positive genetic discrimination. The goal of this screening is to treat the phenotype based on the genotype with the hope of reducing the incidence of serious, life-threatening diseases or to mitigate their effects. Dietary changes, treatment with statins, high risk cancer screening, and surgery are strategies that are offered to people at increased hereditary risk of developing these diseases. Of course, if there were to be widespread preimplantation or prenatal diagnosis for these conditions, then we should rightly raise eugenic questions.

Why make these distinctions? Because the word eugenics has become an angry accusation that ends discussions. The social effects of genetic medicine and genetic counseling should always be open to vigorous scrutiny but the criticism needs to be accurate and sensitive to nuance. Maybe some of what we genetic counselors do is eugenic, and maybe under certain situations, this may not be as terrible as it sounds. And maybe some of what we do is dyscriminatory but not eugenic; we need to understand why it is dyscriminatory so we can do something about it. And maybe lots of what we do is very helpful for many people and not particularly eugenic. To cram all of medical genetics into a eugenic framework prevents any progress from ever being made. The two sides start to resemble Democrats and Republikans in a dysfunctional Congress, never able to engage in meaningful debate. Let’s get this albatross off our necks.

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Tagged as bioethics, carrier screening, ethics, eugenics, Genetic counseling, genetic discrimination, genetic medicine, negative eugenics, newborn screening, positive eugenics, prenatal diagnosis

by laurahercher | March 13, 2013 · 10:54 PM

VARIATIONS IN A MINOR KEY: SOME THOUGHTS ON PRENATAL TESTING IN AN ERA OF WHOLE GENOME SEQUENCING

James Watson is many things – geneticist, Nobel laureate, agent provocateur – but in the realm of psychiatry he is first and foremost the parent of a son with schizophrenia. So when he spoke in 2007 at the World Congress of Psychiatric Genetics, it was as a family member, albeit a family member with an unusually good grasp of the science. And it was as a family member that he exhorted the scientists in the audience to keep up the good work, so that “someday we could identify those individuals destined to suffer from mental illness in utero, and weed them out.”

How often do you hear an audible gasp in the midst of a plenary talk? The dismay and the indignation were palpable. Researchers throughout the day interrupted their talks on GWAS to express in the strongest possible language that the goal of their work was to understand the pathophysiology of the disease and perhaps to aid in diagnosis – not to provide pre-symptomatic risk assessment and not – no, never – not to be used prenatally.

“But if this is what families want,” I asked one speaker later that day. “How do you propose to restrict testing, once the means to test is available?”

“They can’t,” he replied. “They must not.”

Ah. Of course. They must not – I will pass that along.

Five years later, it is not GWAS but whole exome sequencing and whole genome sequencing providing all the buzz at conferences. Solving the diagnostic odyssey! Revolutionizing cancer treatment! Ushering in an era of personalized medicine! It’s very exciting. Prenatal testing is rarely mentioned, and then only in passing – while prognosticators sing happy songs of a not-so-far-off day when every baby will be sequenced at birth.

Sequenced at birth? Will it even be necessary? Maybe Mom and Dad have baby’s DNA already, on a hard drive or a memory stick or downloaded onto their cell phones along with the ultrasound pics.

This is not the genome sequencing story you are seeing in the papers or the blogs. It’s not what researchers are excited about. The ones we hear are all about science journalists getting their DNA decoded and setting off on odysseys of self-discovery that involve hours of consultation with clinical and academic superstars who donate their time. We hear about kids with strange constellations of symptoms finding answers after years of disappointment. Those are heartwarming tales: anecdotal and difficult to imagine at scale, but hopeful and exciting nonetheless. But there is another theme playing, in a minor key, and I hear it faintly, hidden beneath the violins and the trumpets.

I hear it, an unspoken question, when we debate the utility of genomic information. What does to mean to say that information is actionable? (Prevention? Treatment? Cure? Prenatally, there is only Yes or No.) Can patients handle uncertainty? (And what will we lose, when pregnancies are terminated just to be on the safe side?) Doesn’t everyone have the right to know what is in their own DNA? (The information is available – why not use it? What could possibly go wrong?)

Whatever tests are available postnatally will find their way into prenatal use. The gateway technologies – PGD, cell-free fetal DNA testing – are in place. And there is no use saying, “they can’t, they won’t, they shouldn’t” because they can and they will – and sometimes they should. There will be good uses too: success stories and disasters averted. A blanket “no” is not an option, and granting anyone authority to pick and choose which uses are worthwhile vests altogether too much power in the hands of any one person, or profession, or bureaucratic entity.

The same tests can be done before or after birth, but the experience is entirely different. Uncertainty after birth is an opportunity. The least useful information is that which will absolutely come true, no matter what you do. Uncertainty before birth is a crisis. Anyone who has ever discussed a variant of uncertain significance with a pregnant mother can tell you that. But what are the chances there will be developmental delay? Are you certain that the heart will be affected? How sure are you that this means anything? Not nearly sure enough. Please understand that.

In general, notions of genetic determinism increase the likelihood that genomic testing will have negative consequences. Fatalistic attitudes about the power of genes could lead people to overestimate the meaning of elevated risks and underestimate the meaning of reduced risks. Anxiety, stress, missed mammograms – you have heard this before. Shrug. People are grown ups. They will figure this out. Information is power.

But we are in a whole new universe trying to reconcile underpowered and often misunderstood predictive testing in the context of prenatal use. So please, in telling tales of all the wonderful things that genome sequencing will do, save space for a mention of what it cannot do. Make sure they understand that there are great wide cracks in our crystal ball. Do not oversell the value of genotype in the absence of phenotype. Remember that in the end neither researchers nor physicians nor genetic counselors will dictate how this new technology will be used. Others will make that call, and we will be in the choir, singing songs of praise laced with sorrow.

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by Robert Resta | January 11, 2011 · 11:29 PM

Kellogg’s Complaint

Improper kinds of food in the stomach and intestines, will, in this excessively irritable state of the system, cause nocturnal emissions……Farinaecous foods, properly prepared, is incomparably the best aliment for such a sufferer.….

– from A Lecture to Young Men (1838) by Sylvester Graham, Inventor of Graham Crackers

I study the history of genetics because it provides insight into the practice and ethos of genetic counseling. The historical perspective helps me understand why I do what I do. But I also love studying history because of its quirky recesses and unsuspected intersections of historical trajectories. Like the common thread of eugenics that runs through the histories of masturbation, breakfast cereal, and vasectomy.

Most scholars point to the early 18th century as the beginning of the Western World’s repulsion/fascination with masturbation. In about 1712, an anonymous author published a pamphlet titled Onania; or The Heinous Sin of Self Pollution and all its Frightful Consequences, in both SEXES Considered …. (the title goes on for another 30 words or so) that describes the physical and psychological toll taken on those who engaged in what was politely called “the solitary vice,” as well as advice on how to treat the newly-minted medical condition. Onania appeared in multiple editions throughout Europe and the United States. Over the next two centuries numerous similar publications followed , all variations on the same theme, i.e. men and women needed to be saved from the debilitating effects of this evil practice (WARNING: This video link is somewhat risqué).

Some of the great minds of Western history weighed in on self-stimulation, such as Immanuel Kant (he is the father of autonomy, after all), Jean-Jacques Rousseau, and of course Sigmund Freud. Richard Wagner, the great German composer and anti-Semite, foreshadowed future connections between eugenics and masturbation when he blamed the degeneracy of Jews on their supposed frequent practice of “self-pollution.” Some authors recommended extreme physical measures to prevent masturbation (WARNING: this link is not for the weak of heart or those who might be offended by unusual paraphernalia). Christine O’Donnell is just one of the lesser lights in a long and eclectic line of anti-masturbationists.

In America, one of the most committed anti-masturbationists was John Harvey Kellogg, a respected surgeon who believed that a vegetarian diet and vigorous exercise promoted physical and emotional health. Kellogg was particularly concerned that sex, including sexual relations between husband and wife , was detrimental to health and well-being (all of his 42 children were adopted or foster. He and his wife slept in separate bedrooms and proudly spoke of their lack of a sexual relationship). The most debilitating sexual behavior was masturbation, which, according to Kellogg, could be identified by any of 39 signs such as general debility, early signs of consumption, premature and defective development, failure of mental capacity, love of solitude, unnatural boldness, mock piety, paralysis, and eating clay, slate pencils, plaster, and chalk.

For Kellogg, the solution to the masturbation problem was simple – a healthy diet and active lifestyle. Kellogg concocted various foods with the aim of promoting health and preventing masturbation. Granola was one of his earlier attempts. Eventually, Kellogg, along with his brother Will, developed what they felt was the perfect health food – flaked dry cereal, what we know today as Kellogg’s Cornflakes. The Kellogg brothers served cornflakes at their exclusive Sanitarium in Battle Creek to well-heeled clients – along with a daily serving of yogurt administered to both ends of their clients’ digestive tracts. One bowl of cornflakes in the morning and Voila! not only will you be healthy, you will become master of your own domain.

Concerned as he was with individual purity, it is not surprising that Kellogg was interested in racial purity. In 1906 (the same year his brother Will founded what would eventually become the Kellogg Cereal company), he established the Race Betterment Foundation in Battle Creek. The Foundation, one of the key eugenic centers in the United States, sponsored 3 conferences on race betterment, collected eugenic family histories, and worked with other eugenics organizations around the country.

From here the story heads south to the state reformatory for youthful offenders in Jeffersonville, Indiana where Dr. Harry Sharp presided as the institution’s medical superintendent. The aptly named Dr. Sharp is generally regarded as the father of vasectomy. Sharp honed his surgical skills on the reformatory’s young men among whom masturbation was presumably a common occurrence, a behavior that did not sit well with the medical superintendent. As Sharp tells it “…the story of my first operation in October, 1899. A boy 19 years old came to me and asked he be castrated, as he could not resist the desire to masturbate….I did the operation [vasectomy, not castration]…..In two month’s time he came to me and told me he had ceased to masturbate and that he was all right… Three months after that operation he made satisfactory advances in the school. This was true practically of every man operated on; every man who has ceased to masturbate has assigned the same reason: practically every man sleeps better, feels better and has a better appetite.” Sharp went on to perform another 175 vasectomies between 1899 and 1907 “solely for the purpose of relief from the habit of masturbation.”

Sharp, like many of his contemporaries, became interested in eugenics. From his viewpoint in a penal institution, he saw a world overcrowded with indiscriminately breeding mental and physical defectives: “The class of individuals is very prolific, from the fact that in the matter of sexuality, as in everything else, they know of no self-restraint. They indulge their selfish lust, ab libitum, with no thought whatsoever as to what the result may be…..They simply know that they want gratification, and gratification they are going to have.” Sharp wanted to curtail reproduction among those with defective germ plasm. After dismissing alternative approaches like marriage restriction laws, castration, and segregation, he championed vasectomy as the cure for eugenic degradation because, in his view, the procedure was quick and easy to perform, had no serious side effects, did not hamper a man’s pursuit of life, liberty or happiness, and “it is endorsed by the persons subjected to it.” Sharp performed 456 eugenic vasectomies between 1899 and 1908. Note that Indiana did not enact a mandatory sterilization law until 1907; in 1909, Indiana governor Thomas Marhsall ordered a moratorium on sterilizations (In an odd historical connection to another well-known consumer products company, the reformatory eventually became a factory for Colgate-Palmolive).

It is easy to dismiss Kellogg as a, well, flake, and Sharp as a narrow-minded crank. Yet in many ways society has benefited from both men (though not in the ways they intended). Neither man fits neatly into labels like eugenicist or eccentric. They were complex men who were products of their complicated times. Eugenics, anti-masturbation preaching, health foods, and vasectomy were all “in the air” in the late 19th century, and it is not surprising that their paths should criss-cross.

There is an ironic modern twist to the end of this tale. The state of Washington recently enacted legislation granting licensure to genetic counselors. In completing my license application, I was required to affirm that I have never been convicted of “frotteurism.” I have never been accused or convicted of any crime but I could not honestly answer the question because I didn’t know the meaning of frotteurism, so I looked it up: the practice of touching or rubbing against the clothed body of another person in a crowd as a means of obtaining sexual gratification. All those bowls of cornflakes and graham crackers from my childhood finally paid off.

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Filed under Robert Resta

Tagged as cornflakes, eugenics, Genetic counseling, history of genetics, vasectomy

by Kelly Rogel | March 15, 2010 · 4:02 AM

Does History Shape Society’s Attitude Towards Genetics?

I visited D.C. as an undergraduate student and spent a majority of my time wandering around various Smithsonian museums. I got to see Dorothy’s ruby slippers, Kermit the frog, and Apollo 11 artifacts. There was one exhibit that left a lasting impression on me which was the Deadly Medicine: Creating The Master Race exhibit at the Holocaust museum.

“DEADLY MEDICINE: CREATING THE MASTER RACE

From 1933 to 1945, Nazi Germany carried out a campaign to “cleanse” German society of individuals viewed as biological threats to the nation’s “health.” Enlisting the help of physicians and medically trained geneticists, psychiatrists, and anthropologists, the Nazis developed racial health policies that began with the mass sterilization of
“genetically diseased” persons and ended with the near annihilation of European Jewry.

To relate this history, the United States Holocaust Memorial Museum has assembled objects, photographs, documents, and historic film footage from European and American collections and presents them in settings evoking medical and scientific environments. Deadly Medicine: Creating the Master Race provokes reflection on the continuing attraction of biological utopias that promote the possibility of human perfection. From the early twentieth-century international eugenics movements to present-day dreams of eliminating inherited disabilities
through genetic manipulation, the issues remain timely.” (http://www.ushmm.org/museum/exhibit/traveling/details/index.php?type=current&content=deadly_medicine)

The Genetics Revolution seems to focus so much on the future that we forget about the past. Who are we to say the past does not affect us on some level?

Eugenics is, unfortunately, real. Is this why so many people are concerned about The Genetics Revolution?

I know eugenics is a very sensitive subject but that doesn’t mean we should ignore it. I think it is important for us to explore the history of genetics and the impact it has had on society. I don’t know about you, but I have met several people who immediately assume genetic counselors encourage some form of eugenics.

Do you ever feel like in a sense the past is holding us back in terms of the public fully accepting The Genetics Revolution?

The reason why I’m bringing this up is because this exhibit will be visiting my town for a few months. I hope to do a follow-up post about it from the perspective of a genetic counselor. I hadn’t even started to apply to genetic counseling programs when I first saw this exhibit.

I also see this as an opportunity to educate the public about misconceptions that might be out there about genetic counseling. There has been a lot of buzz about this exhibit. I’m open to any suggestions as to how I can use this exhibit as a platform to educate the public and to increase awareness in genetics.

Thoughts? Suggestions? Comments?

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Filed under Kelly Rogel

Tagged as ethics, eugenics, future, genetic, Genetic counseling, Kelly Rogel

Tag Archives: eugenics

The American Society of Human Genetics Struggles to Face Its Past

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

Selective Amnesia, Part 2: Guardians of The Gene Pool

A Selective Amnesia – Sterilizing The History Of Genetics

The Benefits and Blinders of Do-Goodism

Albatross

VARIATIONS IN A MINOR KEY: SOME THOUGHTS ON PRENATAL TESTING IN AN ERA OF WHOLE GENOME SEQUENCING

Kellogg’s Complaint

Does History Shape Society’s Attitude Towards Genetics?

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