The DNA Exchange

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.

Left, Right, Left, Right: Pedigree Standards March Into The Future (And Start To Leave Behind The Male Gaze)

Ka mua ka muri (Walk backwards into the future with your eyes fixed on the past) – Maori whakatauki (proverb)

The NSGC Pedigree Standardization Task Force, of which I am a member, recently published updated guidelines for pedigrees, with a focus on sex and gender inclusivity.* Essentially, the guidelines state that the symbolic representation of individuals in a pedigree should be based on self-identified gender rather than sex assigned at birth. Squares, circles, and diamonds for people who identify as men, women, and non-binary people, respectively, supplemented by clarifying annotation when appropriate. A subtle implication of gender-focused pedigrees is that the internal logic of pedigree construction is no longer compatible with exclusively placing the “man’s family on the left and the woman’s family on the right” (to use the gendered language of yesteryear; more gender neutral but more awkward sounding terms might be sperm provider and egg provider). This point was illustrated in the article’s accompanying tables but not specifically called out in the text, though it is the subject of a brief follow-up Commentary. Of course, the discretion of which side of the pedigree to use for which side of the family is up to the individual counselor’s preference. It may take some getting used to, especially for those of us who have been drawing pedigrees for a very long time (“Oh no, how am I ever going to spot x-linked inheritance?”). But it’s a freeing choice rather than a restrictive mandate.

The reasons behind abandoning the long standing left/right tradition is straight forward. If pedigrees are based on gender, there are more than 2 genders, so a pedigree cannot logically and consistently be divided into halves. For example, if you are working with a couple in which one member was assigned male at birth but identifies as a woman and the other assigned female at birth but identifies as a man and has undergone gender-affirming surgery, which person goes on which side of the pedigree? Furthermore, gender identity may change over time and so placing an individual’s family lineage on the left or the right based on gender could result in the unnecessary and confusing re-drawing of pedigrees over time. Eliminating the left/right prescription also de-prioritizes males, who previously would be the first person encountered when “reading” a pedigree from left to right. Yes, I recognize that a pedigree can be read in many ways, not just left to right, and the proband arrow is the initial focal point that draws you into the image. But the standard reading frame in Western languages is left to right. And the pedigree’s generation/individual numbering system (I-1, I-2, II-2, etc.) is such that individual #1 in the pedigree (I-1) is usually the male founder of the paternal lineage.

Pedigrees and genealogies in one form or another go back well over a thousand years. During that time, while it has been by no means uniform and universal, the majority of pedigrees followed the paternal lineage left/maternal lineage right tradition. So how did this tradition arise (for clarity, I’m going to stick with the terms paternal and maternal to keep with the linguistic flavor of the times during which pedigrees have evolved)? One possibility, of course, is that it was a fifty/fifty kind of thing. When you divide the world up into two genders, one gender’s family will wind up on the left and one will wind up on the right and so it may have been that the paternal lineage just wound up on the left and the maternal lineage wound up on the right. But I think that a trip back through the history of pedigrees and other genealogical diagrams reveals the influence of the Western male gaze in establishing this tradition, along with eugenics, and, of all things, the Roman Catholic Church.

Let’s start this backwards journey in 1995, when the Pedigree Standardization Task Force published it’s original guidelines. Figure 2 in that article states “If possible, male partner should be to left of female partner on the relationship line.” Why did we make that recommendation? Because, well, that’s the way we were taught to draw pedigrees. It was a given; we didn’t think about it too much.

From Figure 2 of the original NSGC Pedigree Standardization Guidelines.

Go back about a century or so, and we see the role of eugenics in shaping pedigree format. In 1912, the Eugenics Record Office (ERO) published Bulletin No, 7, The Family History Book. Page 94 of that booklet contains a somewhat condescending critique of a pedigree of a “dysgenic” family, drawn by one the ERO’s primarily female Eugenic Field Workers, for the purposes of illustrating pedigree standards. The authors state “In this pedigree, the field worker has charted the males to the right and females to the left; this should be reversed for sake of uniformity of practice.” But they make no mention of where/why that practice arose. This same ERO publication recommended using the generation/individual Roman/Arabic numbering system for generations and individuals alluded to above.

Over in England, the male gaze was at work as well. The Treasury of Human Inheritance, a key publication in the history of medical genetics and eugenics and first published in England in 1912, recommended using the Mars symbol (♂), the archetypal manly God of War, to depict males and the Venus symbol (♀), the archetypal female Goddess of Love, to depict females. Francis Galton’s book Natural Inheritance, published in 1889, contains what he describes as a schedule for recording a family history in Appendix G. Not exactly a pedigree but same idea. In this schedule, “Father and his fraternity” are on the left and “Mother and her fraternity” are on the right. Galton, by the way, believed that males were inherently smarter than females.

Galton’s recommended Family Schedule, Appendix G, from his 1889 book *Natural Inheritance*.

Now we take a larger leap backwards in time to the 16th century and the establishment of the College of Arms, which is still active today and is the “official heraldic authority for England, Wales, Northern Ireland and much of the Commonwealth including Australia and New Zealand.” Essentially the College of Arms assigns a coat of arms to a family based primarily on family history. This institution has been collecting pedigrees for about 5 centuries, typically with the format of paternal lineage on the left/maternal lineage on the right.

Pedigree of Nathaniel Littleton, from the College of Arms, published by the Foundation For Medieval Genealogy.

Even in modern days, with a few exceptions, women are expected to display the coat of arms of either their husband or their father. If she chooses to display both, the husband’s coat of arms is displayed to the left or above the wife’s family’s coat of arms.

Guidelines for Display of Coats of Arms for women, per The Heraldry Society.

Another method of displaying a family history is the ahnentafel (usually translated from German as “ancestor table”). An ahnentafel lists a family history horizontally from left to right. Individuals on an ahnentafel are assigned specific numbers that cleverly allow you to determine the relationship to the proband without scanning through the entire table. The first ahnentafel was published in 1590 by the Austrian nobleman Michaël Eytzinger and it depicted the ancestry of Henry III of France. Note that the father’s lineage is above the mother’s lineage.

Ahnentafel of King Henry III of France, published in 1590 by Michaël Eytzinger. — Ahnentafel of King Henry III of France, published in 1590 by Michaël Eytzinger, from Wikipedia.

Medieval pedigrees, of course, were critical to establishing the right to rule. Whether or not you were going to be declared a Royal, or if you were Gene Chandler trying to become the Duke of Earl, all depended on your relationship to the current king or prince or count or whatever title you were aspiring to. Entitlement to the throne or castle depended on who your male ancestors were, so medieval pedigrees often omitted women other than to list them as spouses. Unless, of course, it was convenient in staking your claim to the throne, in which case a woman’s lineage was included in the pedigree to legitimize the claim, as in the case of a Carolingian pedigree drawn at the end of the 12th century.

Carolingian (i.e., from Charlemagne) Pedigree from the late 12th century. Note at the top that the ancestral king is one the left and the ancestral queen is on the right. From The Genesis of The Family Tree by Christians Klapisch-Zuber.

It may come as a surprise to some that the Roman Catholic Church, an institution steeped in patriarchy, had a hand in emphasizing the importance of pedigrees and in shaping their format. The Catholic Church was the dominant authority in medieval Europe and played a role in regulating nearly every aspect of the lives of nobles and peasants alike. Going back to at least the 7th century, the Catholic Church had strong prohibitions against consanguineous unions, what they classified as “an impediment to marriage.” The bans extended well beyond first cousins. To guide prospective mates, the Church produced an arbor consanguinitatis, a generic diagram indicating how close various relations were to a given individual, often drawn with, you guessed it, the paternal lineage on the left and maternal lineage on the right. Of course, for the right price and for the right person, the Church was willing to permit such unions, and also to annul the same marriage on the grounds of consanguinity when that became convenient. As they did for Eleanor of Aquitane’s 12th century marriage and subsequent annulment to her relative King Edward VII of France, and then overlooked it again in her subsequent marriage to very-soon-to-be King Henry II of England, another of her relatives.

Arbor consanguinitatis, from Isidore of Seville’s 7th century manuscript *Etymologiae*. Note that the paternal lineage is one the left and the maternal is on the right.

The Catholic Church also employed pedigrees to illustrate the genealogy of Christ, the so-called Tree of Jesse (Jesse was the father of Goliath-slaying David and a direct ancestor of Christ). This was especially useful for instructing those who could not read the Bible, which was practically everybody who was not a priest or a noble. The earliest known Tree of Jesse dates to 1086, though the tradition of graphically depicting biblical ancestry goes back at least to The Great Stemma, which is thought to date to the 5th century (The Great Stemma, like modern pedigrees, also has a left-to-right reading frame, starting with Adam). Jesse Trees typically depicted only the male ancestors of Christ, along with various other Biblical personages on the sidelines, cheering on the progression of the generations. These trees typically omitted Mary’s lineage (though often included an image of her) but did include the ancestors of Joseph, who technically is Christ’s stepfather and not his biological parent. Many include an actual tree emerging from Jesse’s groin, an image sometimes referred to as, ahem, “the rod of Jesse” (males and their delusional obsession with their penises, thinking they give rise to great trees!). It was not uncommon for kings to insert themselves into a version of a Tree of Jesse, likely in an attempt to show divine approval of their kingship, such as the elaborate family tree of England’s King Edward IV produced in 1461. The trees took on many forms over the years and can be found as illustrations in manuscripts, carvings, and on stained glass windows churches even to the modern day.

Tree of Jesse, depicted on a stained glass window from the Cathedral of Our Lady Of Chartres.

Rod of Jesse, by the Flemish engraver Johannes (Jan) Wierix (1573)

Another way that the Catholic Church may have influenced the appearance of a pedigree – and here I am speculating – is that it’s traditions may have been the source of placing the paternal lineage on the left and the maternal lineage on the right. A Catholic altar is often divided up into three parts – center, right, and left. The center is devoted to God. The right side – from the perspective of a priest looking out at the church – is devoted to Mary, the female. The left side is often devoted to Joseph, the male. Thus, think of looking at a pedigree as a priest looking out on a Church – paternal lineage to your left, maternal lineage to your right. Furthermore, in Catholic iconography, Mary is typically depicted as the right hand of Christ in Heaven. So it would be natural to follow that tradition when drawing a pedigree.

The Coronation of Mary in Heaven, from the apse of Santa Maria Maggiore, Rome (painted by Jacopo Torriti in 1295).

The story of the pedigree is more detailed and complex than I describe here, and probably goes even further back to the Roman Empire. What the story reveals is that even though a pedigree is an apparently objective and straight-forward graphical depiction of ancestry, it is suffused with the values of the people who construct them. The male bias in pedigrees was so embedded in Western European culture that it naturally spilled over into the architecture, appearance, and content of pedigrees. Sometimes those values are consciously articulated, as with the Task Force’s decision to recommend a gender-focused pedigree. More often, though, those values and biases are so engrained that we can’t see or perceive them, unless we march into the future with our eyes fixed on the past.

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– The views expressed here are entirely my own and not necessarily those of other Pedigree Task Force Members or the NSGC.

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Tagged as arbor consangunitatis, consanguinity, genealogy, Genetic counseling, history of the pedigree, pedigree standards, pedigrees, Tree of Jesse

by Robert Resta | January 3, 2023 · 7:08 PM

No Quibbling Over Sibling: Sisters and Brothers We Are One!

Gender-neutral language has evoked anything but neutrality. What with snide remarks about non-gendered pronouns and the politicized and contrived fears about how such language is a sinister plot to groom children for non-heterosexual behavior and non-binary gender identities, you would think gender-neutral language is a major threat to democratic institutions or an existential crisis for humanity on the scale of climate change. But these attacks lack substance and mostly just reveal a lot about our conscious and subconscious insecurities and biases, as well as our uneasiness with change. Language, especially the language of science, needs to be respectful and supportive of all people in all their infinite variety. Being decent shouldn’t be hard.

It doesn’t have to be this way. The history of the word “sibling” demonstrates how a gender-neutral term can be readily incorporated into language without fanfare or brouhaha (a word whose origin is said to be the sound of the cry – Brou-Ha-Ha! – made by a devil disguised as a priest, a stock character in French medieval plays). The story of sibling also takes an interesting detour through eugenics, craniometry, sexism, and fragile male egos.

Both sib and sibling go back to Old English around the year 1000 CE. Sibb, as it was often spelled in Ye* Olde English, simply meant any relative, regardless of gender or sex. The -ling suffix in sibling at the time likely did not have the diminutive implication it acquired later, and probably implied a sense of “familykind,” like adding -kind to human to yield humankind. Both sib and sibling mean the same thing. Incidentally, sib is cognate with the -sip ending of the word gossip, which came from the Old English word godsibb, a sponsor or godparent. Many centuries later, through the vagaries of language change, gossip developed its modern sense of petty talk about others that may or may not be true, an etymologically appropriate connection considering all the gossip about gender neutral language.

Old English had grammatical gender, just as the Romance languages do today, which makes the gender neutrality of sibling all the more notable. Grammatical gender started to disappear from English under Viking rule in what was called the Danelaw region of England in the 9th and 10th centuries. Old Norse, the language spoken by Vikings, was not a gendered language. I reckon a bunch of Vikings were not going to sit down and make a good faith effort to learn the complicated and random gender assignments of inanimate objects of a country they had just pillaged and plundered. It was just easier to drop grammatical gender altogether. When you rule a country and have a fearsome reputation, it’s much easier to accomplish that. This also demonstrates that an entire language can become more gender neutral.

By the end of the 15th century, sibling seems to have fallen into disuse. Standard etymology sources suggest it disappeared altogether until re-emerging in 1903, although Google’s Ngram viewer indicates the word began to be used again in the last half of the 17th century, albeit rarely.

So what’s so special about 1903 that sibling should suddenly re-emerge as a common word in the English language? In 2 words – genetics and its alter-ego, eugenics, both of which took root in the late 19th and early 20th centuries. Interest in familial disorders blossomed, as did the publication of pedigrees and articles that discussed family members. Looking for a shorthand way to say “brothers and sisters” when referring to the offspring of parents, an article published in 1903 titled “On the laws of inheritance in man” in the journal Biometrika, authored by Biometrika’s Editor Karl Pearson and his student/assistant Alice Lee, included this perfectly boring but linguistically notable sentence:

These will enable us, by using the formulae of simple or multiple correlation, which depend simply on linearity, to predict the probable character in any individual from a knowledge of one or more parents or brethren (“siblings,” = brothers or sisters).

There, parenthetically snuck in at the end of the sentence, Pearson and Lee resurrected and repurposed the word sibling, although without the intention of waving the banner of gender neutrality. But the point is that a gender-neutral term can be introduced into scientific discourse and eventually common discourse as well without the collapse of civilization as we know it. Pearson’s imprimatur, given his role as editor of a prestigious journal and towering reputation as an innovative mathematical statistician, probably helped with sibling’s wide acceptance. It’s also possible that earlier authors may have used the word sibling but it has so far escaped our notice. Nonetheless, the word was uncommon enough in 1903 that Pearson and Lee felt the need to define it.

Pearson and Lee are interesting stories in their own right, and here is where the story detours into eugenics, craniometry, fragile male egos, and sexism. Pearson was a key figure in the development of mathematical statistics. Most readers of this blog are familiar with the chi-squared test, the standard deviation, and the correlation statistic r, formally known as Pearson’s product-moment co-efficient, all of which are usually attributed to Pearson. As a prominent disciple of Francis Galton, he was also a dyed-in-the-wool eugenicist. Many of his statistical innovations were developed in the service of eugenics. True to eugenic form, Pearson also reportedly called sibling “a good Anglo-Saxon word.”

Alice Lee was one of the first women to earn a D. Sc. in Mathematics at University College London. At a time when women were regarded as intellectually inferior to men, her thesis set out to prove otherwise. Managing to talk her way into a meeting of the all-male Anatomical Society in Dublin in 1898, she managed to get 35 distinguished anatomists to agree to let her measure their heads. Her thesis compared those measurements to the head measurements of male faculty at University College and to the head measurements of female students at Bedford College where she was a faculty member (Bedford College was England’s first all-female institute of higher learning). Not only did her results show no correlation between intelligence and head size, some leading anatomists and one of the men on her thesis committee had some of the smallest head sizes (talk about an intimidatingly scary thesis defense – publicly telling a committee member he has a small brain!). One anatomist had a skull capacity that was less than 50% of the women students. Her findings, as you might guess, were not well received. Her work was criticized by her committee as “unscientific” because, well, everybody knows that women’s brains are smaller and they have lower intelligence than men and the committee didn’t like having a finger stuck in the eye of their male egos. Even Galton, who was not on her committee, was asked to weigh in and he too criticized her work on the same grounds. But Lee persisted, and with support from Pearson, who backed her analysis, she was awarded her doctorate. Lee’s research, with her listed as first author, was eventually published in The Philosophical Transactions of the Royal Society. Despite her skills, she remained a low-paid assistant for her entire career and was only awarded a pension when Pearson again stepped in on her behalf.

Lee’s measurements of the brains of anatomists. Note that her thesis committee member, Sir William Turner, has the 8th smallest brain. (Image from Wikipedia)

Now back to the sibling story. English, of course, is not the only language that has a gender-neutral word for siblings. For example, German geschwister essentially translates as sibling. As does the Turkish word kardeş, which has a delightful etymology. The word was initially karindaş, a combination of karin (“belly”) + daş (“sharer”). Siblings shared a womb (usually asynchronously) and were therefore “belly sharers.”

Sibling has produced its own linguistic offspring (another gender neutral term that goes back to Old English). Nibling, a term for the children of your siblings (niece/nephew+sibling), was supposedly coined by the Yale linguist Samuel E. Martin in 1951, with a colleague “Dr. Sane.” But I have been unable to track down a citation by Martin proving this nor could I dig up anything about “Dr. Sane.” Chibling (children of my siblings) is a more recent variant of nibling. Pibling, a term for aunts and uncles (parent+sibling) was, as far as I can tell, coined in a brief 2005 article in the British Journal of General Practice authored by Dr. Neville Goodman. Perhaps I will be proved wrong, but to my ear these words sound too cute and contrived to gain wide acceptance. For what it’s worth, my spellchecker tried to correct chibling and pibling, but not nibling.

English, and many other languages, have plenty of gender-neutral terms. Introducing new terms, resurrecting old ones, or just using words we’ve always used, doesn’t need to create social drama or political warfare. No grammar drama is necessary. Language changes and the world still manages to stay on its axis.

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*- For the language nerds out there, the “Y” in Ye is actually not the letter Y. It is an approximation of the now-defunct English alphabet letter thorn (Þ). Thorn is a phoneme sometimes pronounced like the th sound in “the” and sometimes like the th sound in “thick.” Thorn originated in the runic alphabet and was used in Old and Middle English. The printing press was imported into England in the 1470’s from Belgium and the Netherlands, countries whose native alphabets did not include thorn. The closest approximation that the printer’s types had to thorn was the letter y. So Ye Olde English is actually “The Old English.”

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Tagged as Alice Lee, chibling, gender neutral language, gender neutral pronouns, Genetic counseling, nibling, pibling, sib, sibling etymology

by Robert Resta | November 28, 2022 · 11:14 AM

Acting In Bad Faith? A Proposed Religion-Based Genetic Counseling Training Program

As some DNA Exchange readers may know, Union University, a self-described Christ-centered school in Tennessee, is working to establish a faith-based genetic counseling training program. According to the school’s website, the program’s goal is “to train and equip excellent genetic counselors who are compassionate pro-life Christians.” As far as I know, the program has not yet applied for accreditation through the Accreditation Council For Genetic Counseling (ACGC), though it is apparently planning to do so. The program is also seeking endorsements from the American Association of Pro-Life Obstetricians and Gynecologists and the Christian Medical and Dental Association. For all that, it does not yet appear to have the funding to support the program.

Let me be clear up front – I am not anti-religion. Religion plays a critical role for many of us in establishing our identities, values, core beliefs, communities, and how we cope with and understand the world around us. Nor am I critical of any genetic counselor who has deeply held religious beliefs or opposes abortion; religious diversity only enriches the profession. But I am critical of religious teachings that can cause harm and that are used to justify sub-standard medical care.

The program describes pro-life genetic counseling as focusing on these values:

Relationship and community within a Christian context, including prayer for and with the patients
Carefully and lovingly applying Scripture to each situation
An in-depth interpretation of the genetic data, including ambiguities, in ways that all patients can understand
Connecting patients with others in similar situations
Advocating for children born with non-traditional genetic profiles
Advocating for adoption in all of its Biblical forms
Applying Christian genetic counseling principles to patients making genetically-related decisions at any age, including decisions regarding reproduction or end of life issues
Providing continuing education on the latest data and advancements in the field through the academy and to the greater public

I am not sure who the faculty might be. The program’s administrator has a PhD in Experimental Pathology and specializes in plant tissue culture but does not appear to have training, publications, or accreditation in medical genetics or genetic counseling. A director is not named though the site acknowledges that this person needs to be a certified genetic counselor.

I suspect that, like me, many genetic counselors are not comfortable with the idea of a faith-based training program. It’s like having a Creationist teach a course on evolution. I don’t know which specific Christian tenets the Union program will adhere to as there is some variability in the moral positions and beliefs of different branches of the Southern Baptist Convention and the Tennessee Baptist Convention, which the school is affiliated with. But there are a number of potential concerns in terms of the ability of the program to produce appropriately trained graduates whose practice can conform to the NSGC Code of Ethics and provide compassionate care that supports the wide spectrum of core beliefs, values, and life styles across the patient population.

Reproductive options such as abortion, gamete and embryo donation, and carrier screening for purposes of avoiding or terminating a pregnancy are explicitly prohibited by most Evangelical Christian churches. Hence faith-based genetic counseling does not provide, as the NSGC Code of Ethics states, “the necessary facts, and clarifying the alternatives and anticipated consequences.” This violates a long-standing core principle of the practice of genetic counseling. One might argue that these are not viable options anyway for some Evangelical Christians and so it is not a serious ethical lapse if they are not offered. But a good counselor will clarify up front what the patient’s values are and, if patients are opposed to certain courses of action, then those options will not be offered or judged. A good counselor will also not assume that Evangelical Christians are a monolithic block who all strictly adhere to their church’s teachings about contraception and abortion. What matters is not what choices are available to all patients. Rather what is important is to explore the choices available to a specific patient based on their values, beliefs, and social situations.

Another area of concern about faith-based genetic counseling relates to matters of sex, sexuality, and gender. For most Evangelical Christians, there are two and only two sexes and two genders based on sex and gender assigned at birth, gender is biologically determined (man and woman), anything other than sex between husband and wife is not permissible, and homosexual behavior is not tolerated. If an unmarried couple or a single pregnant person came for genetic counseling, could the counselor withhold overt moral judgment? This belief would also make it impossible to utilize the most recent pedigree standardization guidelines, which emphasizes the importance of appropriately depicting people of different genders as well as those who do not identify with the sex they were assigned at birth.

And the school takes their censure of homosexuality seriously. In 2015, Union University withdrew from its association with the Council of Christian Colleges and Universities (CCCU) after CCCU failed to censure two other affiliated schools that altered their hiring and benefits policies to include same-sex couples. In 2017, Union’s president and 3 faculty were signatories to The Nashville Statement, a document that condemns homosexuality. In 2020, Union University rescinded the admission of a student in their graduate-level nursing program after it was discovered that he was in a same-sex relationship, and other LGBQT+ students claim the school has tried to them to undergo harmful conversion therapy. The school’s code of conduct, called a Community Covenant, states that “The promotion, advocacy, defense, or ongoing practice of a homosexual lifestyle (including same-sex dating behaviors) is also contrary to our community values.” So a genetic counselor who graduated from such a program could not even publicly or professionally support patients who are not cisgender heterosexual.

In Evangelical Christian teaching, people who are intersex are accepted into the church but told, quoting from the Bible (Matthew 19:12), that they are “eunuchs who were born that way from their mother’s womb” and that God will reveal their “true” sex and they will be “healed” on the Last Judgment Day. It is, of course, biologically inaccurate to state there are only two sexes and genders and that people who are intersex are somehow broken. It is also psychologically and socially damaging and leads to higher suicide rates and psychological trauma for people who are intersex and/or non-binary. There’s nothing pro-life about that. And I suspect that most intersex people would be offended at being called “eunuchs.”

Some Evangelical Christian teachings, and Catholic teachings for that matter, typically prohibit contraception and sterilization, except in certain rare circumstances, even though contraception – surgical or otherwise – can result in improved health and economic well-being for women and families. For some Evangelicals and Catholics, this ban could also be interpreted to mean that women who carry pathogenic BRCA1/2 mutations might not be able to obtain a pre-menopausal risk-reducing oophorectomy. Not surprisingly, the Evangelical stance on sterilization and contraception has historical ties to eugenics (of course, so does genetic counseling so we can’t claim the moral high ground here) and the fear that Christians, especially White Christians, are reproducing at lower rates and will be replaced by other races and people with other religious beliefs who purportedly have higher fertility rates (I know of no direct connection between eugenics and Union University or its genetic counseling program). Madison Grant continues to raise his ugly head. Furthermore, Union is affiliated with the Tennessee Baptist Association, which itself is, as noted above, affiliated with the Southern Baptist Convention. The Southern Baptist Convention was founded in Georgia in 1845 by white supremacists and supported slavery and anti-miscegenation laws, and opposed the Civil Rights Movement well into the 20^th century, though by the 1990s, the Southern Baptist Convention denounced its past ties to these beliefs and is now ethnically and racially more diverse.

People who identify as Christian, especially conservative Christians, are less likely to utilize genetic testing and counseling and providers who identify as Christian are less likely to offer these services to their patients. Since about 14% of Americans identify as White Evangelical Protestants, they represent a significant minority who are possibly not being reached by currently available genetic services. Faith-based genetic counselors could argue that they would increase the utilization of genetic counseling in this population, which would align with principles that are key to NSGC’s JEDI initiatives. However, they are doing nothing to address JEDI issues, and in fact are working at cross-purposes to it if they are providing sub-standard and inaccurate counseling and condemning anything other than heterosexual behavior and telling people who are born with sexual variations that they are “broken.” The genetic counseling profession embraces diversity, including religious diversity, but it does not support intolerance.

On the other hand, the genetic counseling profession needs to make clear that it is very supportive of the range of religious views of their patients. We are perfectly capable of working with conservative religious patients while also maintaining our personal religious beliefs. The experience of even some of the more conservative Amish groups with genetics by and large shows this. And, as Frances Collins and other scientists demonstrate, Evangelical Christian and other religious scientists and physicians participate in first class and ethically acceptable genetic services and scientific endeavors while accepting standard scientific theory, research, and data and without receiving training from a conservative religious institution. But clearly the genetic counseling profession can do better at actively working with religious groups to demonstrate that genetic counselors can provide services in a supportive, respectful, and non-judgmental manner and supporting our colleagues who are religiously conservative.

I am not familiar with the fine details of obtaining ACGC accreditation, but I do know that it is a lengthy, demanding, and complicated process. It is possible, maybe even probable, that ACGC will deny certification to Union University. The program could then decide to develop their own accrediting organization that specifically certifies only graduates of faith-based programs. After all, that’s what genetic counselors did when we separated from the American Board of Medical Genetics back in 1992. While this would likely be illegal in some states that already have genetic counseling licensure, it might be less of an issue in states that don’t currently have licensure. It’s also possible that some conservative legislatures in states that already have licensure would be willing to modify existing laws to extend genetic counseling licensure to graduates of faith-based programs.

Faith-based genetic counseling can be read as being part of a larger problem of some religious groups using legislatures and judiciaries to dictate medical care guidelines for the general population that aligns with the religion’s beliefs. In addition, some religious groups have increased their control of the practices and policies of health care institutions by purchasing them as well as by creating versions of health insurance plans, something I warned about a decade ago in a 2013 plenary session at the NSGC Annual Education Conference (Thursday, October 10, 2013 at 9:45 AM, to be precise). For example, Catholic hospitals comprise the largest non-profit group of health care providers in the US. This can result in severely limiting access to abortion in states where it is still legal and and reducing access to contraception and surgical sterilization. They are literally trying to force the entire US population to embrace a very narrow minority interpretation of Christian theology.

But the profession can’t only be angry about it, however justified the anger might be. We can’t ignore and dismiss it. We have to understand it, adapt our practice, respond thoughtfully, examine some of our core ethical principles, and be willing to take a stand on controversial issues. It raises some tough questions, but we have to answer them.

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Tagged as faith-based genetic counseling, Genetic counseling

by dnaexchangeguest | November 8, 2022 · 8:00 AM

Guest Post: Reproductive Rights: When the Intent is Advocacy but the Impact is Exclusion / By Liann Jimmons

Author bio: Liann Jimmons is a public health and pediatric genetic counselor whose work focuses on increasing access to genetic services for patients, and increasing access to the profession for future genetic counselors from historically excluded and exploited backgrounds. She is an active member and mentor in the Minority Genetic Professionals Network, Vice Chair of the NSGC Equity and Inclusion Implementation subcommittee, and a member of the NSGC Podcast subcommittee. Her work is driven by her personal experiences as a Black, Vietnamese, disabled, queer woman.

More and more genetic counselors have taken to social media, especially Twitter, to share their thoughts on incidences of injustice. Most recently, the Roe v. Wade overturn sparked impassioned conversation surrounding reproductive rights. In their defense of abortion, some genetic counselors consciously or unconsciously reminded everyone of the problematic foundations of this profession which grew out of the ideals of cisgender, heterosexual, non-disabled, nuclear white families.

“It’s just social media, don’t take it so seriously.”

“It’s just social media, no one should take me seriously.”

Both statements most of us have either heard or said before and there was a time where they carried more truth. However, it is willfully ignorant and irresponsible to insist either are still accurate assessments of the impact of social media. Genetic counselors from historically excluded and exploited backgrounds have repeatedly explained how suppositional intentions are not enough to excuse impacts of tangible, enduring harm. Yet, the “unintentionally” ableist, racist, homophobic, transphobic, classist, etc. ideas prevail both on- and offline

After the overturn, #GeneChat was filled with immeasurable sadness and anger at this attack on bodily autonomy and privacy. However, too many were thoughtless when naming whose bodies deserved autonomy and privacy. Woman this, women that, sisters, mothers, aunties, girls, ladies, daughters, wives. Genetic counselors too loudly reminded everyone that this field was built for and by cishet women. Our trans, nonbinary, queer, and gender expansive colleagues, future colleagues, and patients deserved to feel seen, respected, cared for, and safe. But they were effectively excluded.

Shamefully abundant were posts by genetic counselors grieving over the potentially disabled children forced onto the world, reeking of the rotten roots of eugenics in this field. These posts implied disabled folks are inherently unwanted, unloved, and will be unable to live meaningful, fulfilling lives. Disabilities, visible and invisible, are all around us, your colleagues included. The grieving I’m doing is for the patients harmed by their own provider’s ableism. And I grieve for myself and other disabled genetic counselors being told we are less than.

In addition, there were many posts implying all pregnancies conceived from sexual violence should be terminated, from reducing them to reminders of their parents’ trauma to the hypothetical negative impact on society, with one post describing unwanted children as destined to become criminals because they are poor and abused. Pedestaling abortion as solution these greater societal disparities is an example of white feminism. These ideas are coded in racism and classism, and lead to poorer outcomes in already marginalized communities. This is what happens when advocacy is not intersectional.

My simple ask, please be mindful of language on public platforms to avoid unintentionally sending messages favoring eugenics.

Genetic counselors’ intent is not enough anymore and it hasn’t been for a long time. Excuses like, “It was a mistake because… we forgot, we weren’t thinking, it was in the heat of the moment, we’re still learning, we didn’t know, etc.,” send the message, “We forget about or don’t think of people not like us. Our instincts are to protect ourselves and those like us. We have not put in the effort to learn about people not like us.” To effectively address mistakes and prevent them from happening again, learn how to self-reflect and simply apologize without the if’s, and’s, but’s, because’s, or well actually’s.

The rhetoric used in this discussion of reproductive rights triggered a larger, much needed conversation about the language we use in public spaces. Some people may read this and feel overwhelmed, but consider the marginalized folks who can’t not think about these issues because these are our lived experiences. Lastly, a reminder: if there is too much to consider or you don’t feel informed enough, you always have the choice to simply not post.

Since such a small percentage of genetic counselors are even on social media, one might think that our words matter less. In reality, it’s the opposite. To outsiders, the small sliver of our community they’re able to find is interpreted as representative of the whole. If you choose to participate in these spaces identifiable as a genetic counselor, please be more responsible and inclusive in your statements for the sake of us within the profession, those who will enter, and those we serve.

Author’s Note: While I originally was moved to write this piece to advocate for patients, specifically inclusivity in conversations about reproductive rights, I could not speak about the harm exclusivity causes to patients without acknowledging how exclusive practices harm and weaken the genetic counseling community from within. We cannot bring about justice for those we serve or ourselves without fully surrendering the idea that GCs are the exception and completely embracing the painful self-reflection that shows, as a field, we may not always be as progressive as we think. Being thoughtful about our language and inclusivity is just as important for the safety of our patients as it is for each of us.

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Tagged as guest post

by Robert Resta | November 1, 2022 · 1:19 PM

Guest Post: Prison Abolition 101 (For Genetic Counselors) by Cassandra Barrett, PhD, CGC; Artwork by Mike Nickles

About the author: Cassandra Barrett graduated from the University of Utah graduate program in genetic counseling in 2021. She holds a Ph.D. in biological engineering and specializes in neurogenetics, variant classification, and precision medicine. She has been involved with prison organizing and education since 2017 and is currently an organizer with Liberation Lit in the Kansas City area. She can be reached at cas9bar@gmail.com

About the artist: Mike Nickles is an artist and writer from Hillsboro, Kansas. He is currently incarcerated in the Lansing Correctional Facility. Mike shares his work with the hope that more people will know the truth about the realities of incarceration and be moved to action. You can follow and connect with Mike on his new Instagram page where he shares his art and writing @inside_out_mike.

People in prison are not a group we think about much when it comes to J.E.D.I initiatives in genetic counseling. What do prisons even have to do with genetics? I have been involved in prison organizing and education for about six years now. As I have learned over time from my mentors and friends on the inside – mass incarceration impacts everything, everywhere, all the time. And that includes genetic counseling.

My hope in writing here is to get more genetic counselors thinking about the impacts the prison industrial complex has on our patients, our profession, and our own lives. So, in the spirit of subversion, I want to share some of the effects I have seen; I’m sure there are many more interfaces between the prison system and genetic counseling that I have yet to think of. I will add a disclaimer that I have never been incarcerated, nor have I had any close family who has been incarcerated.

The first and most simple connection is that (formerly) incarcerated people are our patients. In fact, they are quite likely to be people who could benefit from genetic counseling. Individuals with disabilities are massively over-represented in the prison population. In many cases people are incarcerated as a function of ableism, whether that’s a person with a neurological condition such as Huntington’s disease being arrested secondary to their symptoms, a Deaf or nonverbal person being unable to communicate with poorly trained police, or a person with disabilities being forced into poverty and therefore more contact with police. It goes without saying that BIPOC Deaf and disabled people face the greatest risk here. The overturning of Roe v. Wade has also expanded the risk of incarceration for pregnant people and their providers.

When I started my master’s program in genetic counseling I had already been involved for a while in prison education, teaching Biology 101 on a volunteer basis. I was excited to learn more about genetic counseling practices and competencies specific to counseling incarcerated patients. I quickly realized there would be no such resources forthcoming. Despite the fact that we all counsel folks who have experienced incarceration, there is next to no discussion of the needs of this population within our profession. I have only ever found a single role play and one wonderful master’s thesis relating to genetic counseling for incarcerated women (if you know of any more resources, send them my way!). In a country where over 600,000 people go to prison annually, this is an important area of cultural competency to be trained in. As a majority white cis female profession, I suspect that most of us have never considered ourselves to be at risk of incarceration. In fact, many of us may feel that we benefit from prisons. These days my prison organizing work is centered on mutual learning and relationship building, rather than teaching.

I want to be cautious about advocating that genetic counselors invest time in building out cultural competency toolkits, research projects, roleplays, courses, etc. around incarceration. While these are important things to do and should be done, I instead hope that we will focus more of our efforts on ending mass incarceration and build systems of true accountability and restorative justice. The actions of the prison system itself speak loudly in favor of its own abolition. Learning about the realities of daily life for people in prison is an important way to inform our counseling and our politics. But prisons are intended to be cut off from the rest of the world. They are often built in rural communities. It’s hard to get information in and out of a prison. I have come to see this as an intentional part of their construction. If more of us knew about the realities of prison life, it would be much more difficult to justify their continued existence. I hope that this is just a starting point that will lead any readers to seek the firsthand accounts of people most impacted by incarceration. A reading list with some good places to start is provided at the end. And I want to share with you a few things I have heard repeatedly from my incarcerated pen pals, students, and co-organizers and that have been published in peer reviewed studies of prison life. I hope you will take time to digest these stories, consider the questions they raise, and ask your own.

❖ Prison wages are shockingly low. The average national wage is 63 cents per hour. In some states, work is unpaid. In Louisiana for example, many incarcerated people still pick cotton for as little as 2 cents per hour. Many people in state prisons work to keep the prison running, support state institutions, or are contracted out by the prison as laborers. I’ve known people who built furniture for the university where I got my master’s in genetic counseling, printed flyers for the state department of health, took customer service calls for the state DMV, or made debt collection calls for private companies. Private prisons are by no means the only institutions benefitting from exploitative practices. In what ways might your institution benefit from this type of exploitation? How is your patient with an incarcerated parent going to afford genetic testing given such wages?

❖ Costs in prison are shockingly high. It will cost someone in prison 25 cents to send a character-limited e-message to a loved one and just as much for the loved one to message them back. Imagine spending a quarter for every text you send in a day. Communication services in prison are big money. Adding money to an account to make calls or for someone to buy toiletries at the commissary (a small convenience store inside the prison) will be coupled with massive “service fees”- think Ticketmaster x10. Commissary prices are massively inflated. During this summer’s heat wave, the cost of a small fan in the Kansas prisons where I live was $44 or 440 hours of work with the state wage here. By the time folks can afford a fan, it will already be winter. Prisons make big money for their contracted vendors. Does your company’s retirement investment portfolio include any prison vendors? How much money is it going to cost your patient to call their incarcerated family member for more family health history information?

❖ Prison is disgusting. One of my pen pals in Oregon asked me to tell everyone I know that he was recently served a cockroach floating in syrup for breakfast. Their kitchen has a rat infestation. In some places, shared toilets are only flushable a few times per day. You go until it is full because you and the dozens of other people on your bunk can only flush four times per day. You have to buy soap, menstrual products, deodorant, etc. out of your own pocket at high commissary costs. Not all your bunk mates will be able to afford this. With no A/C on in your dormitory, the smell alone will keep you awake all night. Lack of proper climate control is a common issue across prisons leading to mold infestations and heat/cold related deaths and illness. Is this the type of environment you would recommend for your patients? How might you feel and behave in such an environment?

❖ Prisons are cruel. Suicide watch involves being locked in a cell all by yourself with the lights on 24/7, naked except for a heavy “anti-suicide smock.” People in prison are routinely denied healthcare and may have their diagnoses withheld from them. I have had students in prison who were denied x-rays for broken bones and who were not told they had terminal cancer. Sexual assaults both by other incarcerated people and the staff meant to guard them are commonplace. Like on the outside, Deaf people and those with disabilities are disproportionately targeted. HEARD, a cross disability abolitionist organization, estimates that some 80% of Deaf people in prison are raped while incarcerated. If you are sexually assaulted and require an abortion, you will have to pay for it yourself in 16 states, if you are even allowed access to the procedure by staff. The average cost is over $500, or 793 hours of work for the average incarcerated person (although people incarcerated in women’s prisons tend to earn less than those in men’s prisons, just like on the outside). If you give birth instead, you may be shackled during the process and likely will not be allowed to hold your own baby once they are born. How do genetic counselors put patients into contact with the carceral system through mandatory reporting, documentation of medical procedures, etc.? What screening procedures, medical diets, mobility aids, genetic information, etc. are people in prison being barred from?

These stories are commonplace and routine. They do not represent failures of the system but are rather purposeful features of it. As genetic counselors we know that individual genetic conditions may be rare, but as a whole they are common. They too affect us all. Discussions about ending incarceration belong in genetic counseling because we are all impacted. I hope we can begin to equip ourselves to have those conversations through education and relationship building. I look forward to hearing what questions come up within our community and how they may shape our practice moving forward. It’s a long road, but it’s time to get started on down the path.

Resources

Pen pal programs are incredibly important! Isolation in prisons is a serious issue. For those of us on the outside, building relationships with people on the inside is essential if we are committed to this work. My pen pals are some of the coolest people I know and writing letters is a simple way to get involved. There are many organizations that run pen pal programs including Black and Pink, Liberation Lit, and Abolition Apostles.

The Visiting Room Project is a collection of stories about the realities of life without parole in Angola State Prison in Louisiana, a place with the highest concentration of individuals serving life sentences in the world.

Ear Hustle is a podcast about “the daily realities of life inside prison shared by those living it, and stories from the outside, post-incarceration.”

Resisting Invisibility is a blog published by Liberation Lit, a group of readers both inside and outside of prisons working to build a better world without cages. For full transparency, I am an organizer with Liberation Lit.

Mariame Kaba, Dean Spade, Victoria Law, and adrienne maree brown are just a few important, accessible organizers and authors whose work is incredible and essential. They have been a part of exciting initiatives including the NYC Transformative Justice Hub and Project NIA that provide resources to begin tackling difficult questions about prison abolition (If not prisons, then what? What about the rapists, the murders? How do we keep ourselves safe?). Check out their work and any/all publications by these authors. I especially recommend Prisons Make Us Safer: And 20 Other Myths About Mass Incarceration by Victoria Law as an introduction to the realities of the prison system in the United States.

If you are looking to do some truly deeper diving, this is the place to go for an archive of resources.

Finally, I have previously published a related article in Perspectives in Genetic Counseling. The intersection of genetic counseling and the prison industrial complex is an area I hope to continue writing about; I welcome any feedback, questions, and connections from colleagues!

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Tagged as abortion, feces, pregnancy, prison, rape, sexual assault, suicide

by Katie Stoll | September 26, 2022 · 5:02 PM

Unprofitable Genetic Testing Labs – The Size of the Loss, The Reasons for the Loss, and What It Means for Genetic Counseling and Genetic Counselors

By Katie Stoll, MS, Jessie Conta, MS, and Michael Astion, MD, PHD

Genetic counseling is a critical part of the genetic services process, beyond just coordination and ordering of a genetic test. However, as the genetic counseling profession has grown alongside the expansion of genetic testing, it has become increasingly intertwined with and dependent upon the financial success of commercial genetic testing laboratories. The relationship risks undervaluing genetic counseling and the breadth of the services genetic counselors provide.

The genetic testing industry has seen rapid growth over the past two decades, with many new companies and billions of dollars invested into start-up genetic testing labs. Despite the enthusiasm of venture capitalists and other investors, commercial genetic testing labs are largely unprofitable, and the losses are significant and sustained. This is shown in Tables 1 and 2 below which are derived from analyzing publicly available, quarterly and annual financial reports (10-Q and10-K Filings) of publicly traded companies whose primary business is clinical genetic/genomic testing.

As shown in the tables, it is common for publicly traded, genetic testing labs to report annual losses of >$100 million. In 2021, only one lab, Fulgent, made a profit (Table 1). However, Fulgent’s 2021 – 2022 quarterly reports (Table 2) indicate that profits aren’t attributable to genetic testing, but rather to COVID test sales, which accounted for ~88% of their 2021 revenue. Myriad has seen a consistent decline in revenue since the US Supreme Court’s ruling in 2013, which forbid human gene patenting and therefore caused Myriad to lose their lucrative BRCA testing monopoly. Although the losses have not been as severe as their competitors, Myriad has not been profitable since 2019, and they have reported greater losses in the first two quarters of 2022 than their annual loss in 2021.

Profit and loss data is difficult to obtain from private genetic testing companies such as Color Genomics, as well as from genetic testing labs owned by much larger, diversified companies, as is the case with Ambry being owned by Konica Minolta. Similarly, profit and loss data on genetic testing is unavailable from integrated health systems, academic medical centers, or publicly traded labs –like Quest, LabCorp, and BioReference— who only have a small portion of their overall testing business in genetics. In regards to academic labs and labs in integrated health systems, our experience, as well as discussions we have had with colleagues strongly suggest that genetic testing is performed at a financial loss, and that it is the overall profit of these full-service labs that allow them to support genetic testing.

Why aren’t genetic testing companies profitable?

Publicly traded genetic testing labs are unprofitable for a variety of reasons. The top reasons are poor reimbursement from insurance plans and patients; intense competition; and excessive expenses for sales, marketing, and executive compensation. In addition, the inclusion of genetic counseling, which companies have highly valued as part of their testing service, adds an expense that is not seen in the other analytic sections of a full-service clinical lab.

Insurance reimbursement

The service of genetic testing is a costly one to deliver and is much more expensive than a lab’s cost to perform other tests. For example, the fully loaded cost of performing a typical test in a highly automated, hospital-based core laboratory is in the range of $10-$20 per test. This includes common tests like complete blood counts, electrolytes, basic coagulation tests, thyroid screening tests, and liver function tests. For an insurance plan this type of common testing is >65% of their expenses. The cost to labs of genetic testing is much higher, often 10-100-fold higher. Genetic testing usually represents < 20% of an insurance plan’s spending on lab tests.

Why is genetic testing so costly to labs? The main reason is that it is difficult scale genetic testing in a manner analogous to common, high-volume laboratory tests. Compared to common tests, genetic testing is more labor-intensive, more time consuming, involves higher-wage staff, and involves technology that has a higher cost per test. Genetic testing is time consuming because it requires complex tasks not seen with common tests, such as variant analysis, curation, review, and updating. And for many companies, it also includes providing the genetic counseling service, which is often bundled into the service of providing the test. Overall, genetic testing is a personalized, complex technical service which has resisted, for now, the type of full automation that has benefited other parts of the clinical lab.

The high cost for performing genetic testing necessitates high costs to patients and their insurance companies. Historically, insurance companies are mediocre at regulating high-volume, low-cost lab tests because it is too cumbersome and expensive to manage. However, insurance companies have many effective tools for regulating high-cost procedures, including genetic tests. The result is that high-volume, low-cost laboratory tests have a relatively open door to reasonable insurance payments, and insurers invest only a little energy toward closing that door. In the case of genetic testing, the door is closed or only partially open.

Besides negotiating fees with certain labs, the main method that insurance plans use to control genetic test reimbursement is detailed medical necessity policies tied to preauthorization systems. Insurance companies either develop the policies and pre-auth systems or purchase them from third-party benefits managers. Overall, the method involves using software that aids decision making in combination with genetic counselors, nurses, and physicians who adjudicate cases at various decision levels. This approach is then married to an insurance plan’s usual and customary procedures for handling grievances from patients and labs that have been denied payment. For insurance plans, this type of complex system, which is both software and labor intensive, would have a poor return on investment if applied to low-cost, high volume lab tests. But for genetic testing, this type of system has an excellent return on investment, and so insurers are highly motivated to regulate genetic testing. In addition, these insurance systems tend to be overly tuned to block fraud, waste and abuse, and often delayed in keeping up with scientific evidence. Therefore, insurance systems may block some medically necessary genetic testing.

Patients bear high out-of-pocket costs for genetic testing. This is because they are financially liable when their insurers do not cover the test, and, even when insurers provide coverage, there still can be high deductibles or co-pays. In the laboratory industry, it is very expensive to recover the money that the patient owes, and poor financial recoveries from patients is common. This failure to recover the patient portion of the bill adversely affects the bottom line of genetic testing labs.

Response to poor reimbursement from insurers and patients

Many labs performing genetic testing have responded to preauthorization requirements by investing in resources – which sometimes can create an entire division or department – that provide support with prior-authorizations, as well as appeals and support when test coverage is denied. This can help grow the testing business because it removes a barrier that blocks some providers from ordering testing. However, the removal of the barrier comes at a high cost to the genetic testing lab.

To help patients directly, some labs have promised patients low out-of-pocket costs either through reducing the patient’s responsibility under their insurance plan, or by promoting self-pay options that avoids involving the insurance plan. Thus, some labs promise patient out-of-pocket maximums, typically advertised as about $100 when insurance does not cover testing.

For self-pay options that do not involve insurance, the price for genetic testing for patients is often much lower than the list price available to care providers, and it is highly likely that price does not cover the costs of the tests. The current going rate at most labs for self-pay testing for multigene panels is around $250, which is usually much less than what labs try to collect from payers, including Medicare and Medicaid for the same test.

Sales and Marketing

A review of publicly available, 10-K submissions, show that it is not unusual for genetic testing companies to have marketing and sales budgets around 40-50% or more of revenue, which is much higher than typically seen in established, full service clinical laboratories. This most likely relates to the goal of growing revenue and capturing market share, despite the high cost of achieving this in a competitive, and poorly reimbursed business. Those NSGC parties, sponsored luncheon and dinner events, “free” CEU opportunities, and even the complementary genetic counseling, all come at a cost for the marketing and sales budgets of these companies.

Executive compensation

Another contributor to financial losses in publicly traded genetic testing labs is the high pay of executive leadership, including chief executives. Review of executive compensation data shows that executive pay is often inversely correlated with net profits – the longer that a company lasts, regardless of how deep the losses grow, executives tend to be well rewarded. For example, Natera reported compensation for the company’s chief executives totaling $8 million while company losses totaled $128 million in 2018. Contrast this to 2021, when Natera’s C-Suite compensation was > $53 million despite company losses that were > $471 million.

Although these companies are not generating operating profits, their investors aren’t necessarily hurting as a result. Stock prices for boutique, genetic testing labs don’t often sync with the lab’s financial health, and based on reported trading of company insiders, some investors are gaining significant wealth despite the losses of these labs. For example, Invitae hit all time stock highs in December 2020 despite enormous losses reported in every quarter that year. The net loss for Invitae in 2020 was >$600 million, while that same year Invitae insiders cashed out more > $46 million in stock. Another example is that the current CEO of Natera cashed in nearly $76 million in stock over the past four years, while cumulative losses for Natera totaled >$ 1 billion over that same period.

What is at stake for genetic counseling?

A 2018 publication in the Journal of Genetic Counseling analyzed the financial challenges of commercial genetic testing labs and what that could mean for genetic counselors. The authors speculated that genetic testing companies may not find a path to profitability, and their ability to support genetic counseling services may subsequently decrease.

Since this initial analysis, the losses of these companies have continued to grow, and investors have become less enthusiastic. This has put pressure on many companies to change and adjust their business strategy in order to survive. For some, this means cost cutting measures to decrease their cash burn with hopes to increase the odds of profitability. And as predicted, difficult decisions are taking place with many genetic testing companies resulting in layoffs of staff, including genetic counselors. Last month, Invitae announced layoffs of over 1,000 staff, including most of their clinical genetic counselors. SEMA4 and Ambry Genetics have also had layoffs in recent months. Given the overall picture of the financial health of all these labs, and increasing challenges in raising funds, it is likely there will be more layoffs to come for genetic counselors and others who work at these companies.

What does the current financial state of genetic testing laboratories mean for the delivery of genetic services and for the genetic counseling profession? A substantial portion of genetic counseling is now delivered through genetic testing laboratories who have packaged genetic testing with the offer of genetic counseling to draw in clients. If we see fewer companies maintaining genetic counselors on their staff, where will genetic counseling support come from for these patients? In addition to the labs themselves, many of the growing genetic counseling telehealth companies are closely tied to the testing laboratories, with much of their funding and contracts coming through commercial laboratories rather than direct patient referrals or contracts with clinics. It seems possible that these arrangements could also be negatively affected with current financial pressures and cuts to “extra” costs. Genetic counseling is not an “extra” bonus service, but rather a critical part of the genetic services process. Relying on genetic testing companies’ funding to ensure access to this service does not appear to be a sustainable model.

For genetic counseling services to be sustained, independent of the financial health of corporate testing laboratories, it is essential that genetic counseling be recognized and reimbursed as an independent service, with inherent value that is separate from genetic testing. Recognition by the Centers for Medicare and Medicaid Services is a necessary step towards sustainable and independent genetic counseling services, regardless of service delivery modality. I hope you all will join in continued advocacy to see the Access to Genetic Counselor Services Act H.R. 2144 / S. 1450 enacted into law.

Michael L. Astion is a clinical pathologist who is Medical Director, Department of Laboratories at Seattle Children’s Hospital and Clinical Professor of Laboratory Medicine at the University of Washington. For almost two decades he worked at the University of Washington, Department of Laboratory Medicine where he was a Professor and Director of Reference Laboratory Services. His career is divided between clinical service, teaching, clinical service, and research and development. He is the editor-in-chief of Patient Safety Focus, which appears quarterly within AACCs Clinical Laboratory News. He is one of the founders of PLUGS (Patient-centered Laboratory Utilization Guidance Services), a national collaboration whose mission is to improve test ordering, retrieval, interpretation and reimbursement. Dr. Astion is a frequent speaker at professional meetings, where he lectures on issues related to laboratory test utilization; test interpretation; laboratory economics and outreach; and medical errors.

Jessie Conta is a licensed genetic counselor in the Department of Laboratories at Seattle Children’s Hospital. She received her Master of Science degree in genetic counseling from Brandeis University. As the Manager of the Laboratory Stewardship Program at Seattle Children’s, she leads genetic test stewardship interventions, including insurance alignment related to genetic testing. Jessie is also a co-founder and Director of Genetic Counseling Services for PLUGS (Patient-centered Laboratory Utilization Guidance Services), a national collaboration whose mission is to improve test ordering, retrieval, interpretation and reimbursement.

5 Comments

Filed under Guest Blogger, Katie Stoll

Tagged as Genetic counseling, genetic testing, professional issues

by laurahercher | September 16, 2022 · 5:08 PM

GUEST POST: The NSGC Annual Conference needs a high-grade mask mandate

by a collective of GCs concerned about COVID-19 risk at the 2022 AC

We urge the NSGC Board of Directors to change the mask recommendation for the 2022 Annual Conference (AC) to a requirement for attendees to wear high grade masks (N95, KN95, surgical).

We encourage our fellow genetic counselors to join us in advocating for high-grade masks at the AC by signing this petition and sharing it with their colleagues.

Below we share examples from recent conferences to demonstrate that without a masking requirement, the AC is likely to be a superspreader event and that masking requirements are indeed feasible at conferences of this type and size. We also lay out why this policy change is imperative given NSGC’s stated J.E.D.I. commitments and our profession’s responsibility to our attendees (including vendors, exhibitors, facility workers, and the press), patients, colleagues, families, the local community of Nashville, and society broadly.

Likelihood of high level of COVID-19 transmission at events like the AC

Unfortunately, even in 2022, conferences without masks continue to be superspreader events. The Society for Academic Emergency Medicine Conference had an estimated 18-67% of its ~3000 attendees contract COVID-19 at their May 2022 conference. This conference required vaccination but not masks. A July 2022 meeting of IT developers had at least 50% of attendees test positive for COVID-19 after the conference. That meeting required both vaccination and pre-conference testing, but not masking (same as the policies proposed for the 2022 AC). This example shows that transmission rates can still be high even with the policies proposed for the AC.

In contrast, the 2022 Academic Surgical Congress required high-grade masks (N95, KN95, surgical) and far fewer attendees contracted COVID-19. In a recent paper Silver et al. (2022) report that 1.8% of in-person attendees at this conference tested positive for COVID-19 after the meeting, a rate that is both markedly lower than the unmasked conferences mentioned above and similar to the rate among remote attendees (1.5%). It is notable that this paper came out after the Board made decisions about AC policies, which further prompts the need for re-assessment of those policies.

NSGC staff have shared that they hope that attendees will heed the recommendation to wear masks. However, rates of masking at conferences with a recommendation as opposed to a requirement suggest that many will not, as does an informal poll in which 30% of respondents who plan to attend the AC in person said they would not wear a mask under the currently proposed policies.

Feasibility of mask mandates

It is notable that many recent in-person medical conferences have required masks and had a high rate of masking compliance. This suggests that a mask mandate is indeed feasible and also that masking rates are higher with a mandate than a recommendation. In addition to the Academic Surgical Congress discussed above,the Heart Rhythm Society and American Academy of Neurology 2022 meetings are notable examples. Both required masking. Genetic counselors who attended these meetings report that compliance was very high and that security guards and conference staff provided cordial reminders to mask when they were already interacting with attendees, such as at entry points. This suggests that a high rate of masking can be achieved when a mask mandate is coupled with a minimal level of additional work from existing conference staff. Further, the Heart Rhythm Society registration page informed potential attendees in advance of requirements, including mandatory masking, and asked that individuals who could not meet those requirements attend remotely. Within the genetic counseling profession, the Southern California Genetic Counselors’ 2022 conference is an example of another recent meeting that required masking and had very high compliance. If these societies were able to implement a mask mandate and achieve a high level of compliance, then so can NSGC.

Lastly, many upcoming conferences are requiring masks, most notably this includes the American Public Health Association Annual Meeting.

J.E.D.I.

NSGC has made significant strides in recent years in recognizing the need for greater equity and inclusion within the society. However, opting for a mask recommendation over a mask mandate is counter to the society’s stated J.E.D.I. goals. Specifically, by not including this feasible and highly effective mitigation strategy, NSGC has rendered in-person attendance at the AC out of reach to attendees who are at high risk for COVID-19 complications, or who live with someone who is. This policy choice disproportionately harms disabled individuals. In-person attendance at the AC offers many more choices for educational talks and provides access to additional networking opportunities, pre-conference symposia, and sponsored sessions. In the same informal poll referenced above, 11.5% stated they would change from remote to in-person attendance if masks were required.

Our collective responsibility

As both a professional society and a collective of healthcare providers and individuals, we have a responsibility to minimize the risk of transmission at our Annual Conference. So much so that one group of experts titled their article on this topic “The irony — and ignominy — of medical conferences as superspreader events.” To abide by our duties as healthcare providers and our responsibilities to our patients, we must do whatever we can to save lives and prevent long COVID-related disability by minimizing the number of attendees who bring COVID-19 home to their families, communities, clinics, and workplaces. Not taking that step would be against the values of care and respect for our patients’ welfare that are the foundation of our Code of Ethics.

Clearer communication of rationale for policy choices and risks to attendees

Lastly, we urge the Board to provide clearer communication on COVID-19 policies for the AC, even if they do not adopt a mask mandate. Communication from NSGC to date does not provide a rationale for the chosen policies or clarity on the process for selecting those policies, nor does it communicate where the current policies may cause significant risk to attendees. The risk of attending should not be left to attendees to discern. As a profession that facilitates and is committed to informed choice, we owe it to each other to help provide accurate and up-to-date information on the risks of conference attendance, especially given that such information is not readily provided from sources most attendees would encounter.

Signees

Colleen Caleshu

Brenden Phung

Sohnee Ahmed

Kaleigh Patton

Emma Snyder

Gina Sanchez

Breanne Prindeville

Sarina Kopinsky

Samantha Freeze

Charlene Preys

Emily Toering

Sally Rodriguez

Naomi Wagner

Meg Hager

Michelle Takemoto

Suzy Cahn

Ariel Breeze

Vickie Bacon

Julia Stone

Liz Mizerik

Natasha Berman

Catriona Hippman

1 Comment

Filed under Uncategorized

by laurahercher | July 28, 2022 · 7:47 AM

NSGC Board: With Roe Overturned, and Over a Decade Without Medicare Recognition, It’s Time For Change

A Guest Post by Misha Rashkin et al

The Supreme Court’s recent decision to overturn Roe v. Wade is an historic event, and in many ways genetic counselors are in the eye of the storm. The National Society of Genetic Counselors (NSGC) has historically remained silent on the issue of reproductive rights, citing Medicare recognition as a bipartisan issue that supersedes patients’ reproductive freedom. Though the threat of losing Roe has been clear since Brett Kavanaugh joined the Supreme Court, and all but inevitable after Justice Coney Barrett took the oath, NSGC leadership has continued to focus solely on Medicare reimbursement. After more than a decade of following this strategy, NSGC is nowhere near getting our bill passed, and now patients are losing fundamental rights. It’s time for change.

What is Next for Genetic Counselors?

Going forward, there will be laws proposed in many states that could regulate what genetic counselors can document or say to their patients.
To enact change, NSGC leadership will need to get involved in many legislative, legal, and electoral efforts.
Electoral efforts will need to focus on local elected officials like District Attorneys offices, ballot measures, and state constitutional amendments.

Bottom line: It is not acceptable for NSGCs political operation to remain silent on reproductive choice. We must act on issues that impact our professional lives and the wellbeing of our patients. To remain silent is to capitulate.

What about our bill to be recognized by Medicare?

Based on public records, NSGCs efforts to have Congress recognize genetic counselors as Medicare providers has been ongoing since 2007, longer than many counselors’ careers.
Our bill has been introduced three times as HR 7083 in 2018, HR 3235 in 2019, and HR 2144 in 2021, and has yet to be considered by a single committee in Congress.
While progress has been minimal, costs have ballooned 450% over 10 years, from $80,000 per year to $360,000 per year!

Bottom line: Sacrificing our commitment to patient autonomy and agency is a grave ethical error for an industry that prioritizes these values. Sticking with the status quo is a failure of the leadership’s ethical and fiduciary responsibility. Board members are required to accept their fiduciary responsibility for NSGC the same as they would for their own personal finances.

What Can NSGC Do To Repair the Damage?

The NSGC Board should put out a Request For Proposals (RFP) requesting bids from new lobbying firms every few years, beginning now. This is standard practice for nonprofit organizations. Smith Bucklin has not been held accountable for their lack of progress.
RFPs should include lobbyists who have worked to get mid-level providers recognition.
This process should be transparent and prioritize bids from political operatives who have:
- Experience working with our targeted committees (Energy & Commerce, and Ways & Means in the US House) to move our legislation forward.
- Experience working on reproductive freedom at the state and federal level.

Bottom Line: The Board should create a process where an RFP is put out at some regular cadence, such as every three years. It’s time to hold our Director of Government Relations and lobbyists accountable. If you agree, please sign this petition to register your support for accountability, transparency and change.

[alphabetical order]

Barbara Biesecker, PhD, MS, CGC

1989-1990 NSGC President

Jordan Brown MA, MS, CGC

2022 Chair, NSGC Public Policy Committee

Member, NSGC Reproductive Freedom, Access, and Justice Task Force

Founding Member, Genuine Collective

Elizabeth Fieg, MS, CGC

2020-2022, Public Policy Committee Member

Michelle Fox, MS, CGC

2020-2021, NSGC Director at Large

2008 Chair, Jane Engelberg Memorial Fellowship

Shreshtha Garg, MS, CGC
2020-2021 Chair, Equity and Inclusion Implementation Committee

Carrie Haverty, MS, CGC

2022 Chair, NSGC Membership Committee

Brianne Kirkpatrick, MS, CGC

204-2017, NSGC Public Policy Committee Member

Shelby Koenig, MS, CGC

Member, NSGC Reproductive Freedom, Access, and Justice Task Force

Megan Mckenna, MS, CGC

NSGC Member since 2020

Kristen Miller, MGC, CGC

2022 Senior Co-Chair, NSGC Prenatal SIG

Ana Morales, MS, CGC

2016-2020, ABGC Board of Directors (President, 2019)

2022, NSGC Expert Media Panel

2022, NSGC Practice Guidelines Committee Member

Shivani Nazareth, MS, CGC

2020-2021, NSGC Director at Large

2021-2022, NSGC Reproductive Freedom, Access and Justice Task Force Member

2013-2016, Public Policy Committee Member

Kate Partynski Emery, MS, CGC

NSGC Member Since 2015

Aarti Ramdaney, MS, CGC

2019-2021, NSGC Prenatal SIG Co-Chair

Misha Rashkin, MS, CGC

2018 Chair, NSGC Public Policy Committee

Hillary Rieger, MA, MS, CGC

NSGC JEDI Task Force, 2021-22

Sally A. Rodríguez, ScM, CGC

2021-2023, NSGC Membership Committee Member

2021-2023, NSGC Justice, Equity, Diversity, & Inclusion (J.E.D.I.) Committee Member

Katie Sagaser, MS, LCGC

2020-2022 NSGC Public Policy Committee Member

2019-2020 NSGC Prenatal SIG Co-Chair

Founding Member, GENUINE Collective

Kendra Schaa, ScM, CGC

2020-2021, Chair, NSGC Access & Service Delivery Committee

2017-2020, Member, NSGC Access & Service Delivery Committee

Heather Shappell, MS, CGC

2020-2021, NSGC Director at Large

Ashley Svenson, MS, CGC

2021-2022, NSGC Reproductive Freedom, Access, and Justice Task Force Member

Elizabeth Varga, MS, CGC

2018-2019 NSGC Director at Large

2016-2017 Co-chair, Pediatric Subcommittee, Cancer SIG

2014 Chair, Nominating Committee, American Board of Genetic Counseling

Chelsea Wagner, MS, CGC

2022-Present, Prenatal SIG Co-Chair

2022-Present, NSGC Abstract Review Committee

2019-2021, NSGC Marketing and Communications Working Group

2017-2020, NSGC Membership Committee

Kate L Wilson, MS CGC

2014 Chair, NSGC Access and Service Delivery Committee

2018 Chair, NSGC Education Committee

2012 Chair, NSGC Prenatal SIG

2017 Chair, NSGC Laboratory/Industry SIG

Beth Wood Denne, MS, CGC

2019 NSGC Cares Task Force

2011 Chair, Annual Education Conference

2013-2016, ABGC Board of Directors (President, 2016)

10 Comments

Filed under Guest Blogger

Tagged as NSGC, professional issues, Reproductive rights

by Robert Resta | May 15, 2022 · 5:57 PM

The Power Of Symbols: The Pedigree As A Tool of Conformity and Oppression

Pedigrees are paragons of infographics — “graphic visual representations of information, data, or knowledge intended to present information quickly and clearly.” Yup, that’s pretty much what a pedigree is. Just think of how much clinical and genetic information you can glean from scanning a pedigree for even just a few moments. Eliciting a pedigree during a counseling session is also a great way to establish rapport and trust with a patient, get a grasp on family dynamics, and gain insight into patients’ understanding of disease etiology (“I’m not very close with my father. He left when I was pretty young. I think he had leukemia but he worked in a shipyard and was exposed to all kinds of chemicals.”). The family story is often more interesting than the family history. Then there’s that appealingly simple geometry of squares/circles/diamonds/lines and the satisfying symmetry of the paternal lineage on the left and the maternal lineage on the right. Nice, neat, clinically objective, non-judgmental, and harmless, right?

Well, maybe not always so harmless and objective. Symbols can be imbued with power by the information they communicate and that power can be used to control, harm, and manipulate people and reinforce social power structures.

As I’ve written about before in this space before, pedigree nomenclature and structure reflect what Judaeo-Christian Westernized cultural values consider to be an “ideal family.” Standard pedigree structure works best for a single mating between a man and a woman, along with their respective offspring and antecedent and descendant generations. Maybe you can squeeze in a second mating for one or two individuals in the family, but after that, things get pretty messy and difficult to read.

Over the last century or so, cousin marriages have been discouraged in most Westernized countries and in some cases are illegal. Although pedigrees can incorporate an occasional consanguineous mating without becoming too unwieldy, the picture gets complicated if there are multiple inbreeding loops like those found in the many societies where cousin marriage is the norm. And as far as sex and gender go, you have two choices — square or circle, man or woman — that are dictated by an assessment of your genitalia (this will change with the latest iteration of pedigree nomenclature; see below).

The implicit cultural messages here are that you should have one life-long unrelated mate and that you are either a man or a woman, no allowances made for people who identify otherwise.

The oppressive potential of pedigrees is illustrated in the pedigrees collected by the Eugenics Record Office, which operated out of Cold Spring Harbor on New York’s Long Island in the first few decades of the 20th century. Look at the trait key used to classify people in a pedigree and it evokes a smile, an eye roll, tears, a grimace, a forehead slap, or all of the above. Sexually immoral. Criminalistic. Wanderer. Neurotic (for those of you who like language trivia, the pointing finger symbol that is used to indicate a proband is called a manicule or, more informally, a bishop’s finger).

Pedigree Symbols Used By The Eugenics Record Office

But these labels and symbols are not just harmless historical curiosities that were the products of a few warped minds. This was the era of mandatory sterilization laws in the US and elsewhere. If one of those symbols represented you, the state had the legal right to perform surgery on you against your will to prevent you from having any(more) children. Three generations of imbeciles are enough already, and that ruling was by a liberal Supreme Court that included Louis Brandeis in the majority opinion.

In contrast to how “dysgenic” families were portrayed, pedigrees could manipulate the viewer in the other direction by omitting information of eugenically desirable families. The Darwin Family pedigree below was, for all intents and purposes, the logo of The Eugenics Education Society, headquartered in London and whose president at the time was Leonard Darwin, one of Charles Darwin’s sons. Note that virtually all of the males in the family are “Brilliant” or had “Scientific Ability” but none of the women apparently possessed these traits. More subtly, many of the dysgenic traits described in eugenically undesirable families were omitted from the Darwin pedigree – opium addiction, deafness, intellectual disabilities (Darwin’s much beloved last child, Charles Waring Darwin, likely had Down syndrome), seizures, and alcoholism. Indeed, Darwin himself was so concerned about his family history that he wrote a letter to his father asking for his advice before starting a family (Darwin’s father wrote a similar letter to his father too).

A stark illustration of the power of symbols came up in discussions about updating pedigree nomenclature among the NSGC Pedigree Standardization Task Force, of which I am a member. One of our recommendations is a gender-first nomenclature, that is, a person’s self-identified gender should dictate the symbol’s shape, not their sex assigned at birth. We also considered symbols to use for people who do not identify as either male or female. In reviewing the literature and eliciting suggestions from the genetics and other communities, some suggested using an inverted triangle for someone whose gender identity is nonbinary. However, we rejected that suggestion in favor of a diamond shape because inverted triangle badges were used in Nazi concentration camps to distinguish among the various types of prisoners, such as political prisoners, criminals, prisoner of war, “gentiles who assisted Jews,” Roma, mentally ill, or Jews (the Magen David is essentially, two triangles). The triangle that defined you could mean the difference between life and death.

*Inverted triangles used to distinguish among the types of prisoners in Nazi concentration camps. (https://en.wikipedia.org/wiki/Nazi_concentration_camp_badge*

The potential harm of pedigree symbols looms large today now that states have taken to passing laws that criminalize abortion. Suppose that you are practicing in a state like Louisiana after a strict anti-abortion law is passed and you are taking a family history from a someone who had a pregnancy in which anencephaly was diagnosed and she managed to obtain a pregnancy termination through an underground network. If you document that pregnancy with the annotation VTOP (voluntary termination of pregnancy) below, you could potentially open her up to legal prosecution.

A similar outcome could arise in a states like Texas or Alabama that have banned gender-affirming treatment for children, legislation that, as far as I can tell, is often motivated by cynical politics and hate-driven willful ignorance. If you practice in these states and are consulting with a parent who has a child who identifies as female but was assigned male at birth and has undergone gender-affirming treatment such as puberty blockers, you would – under the new guidelines – depict this in the pedigree with a diamond, the annotation AMAB (Assigned Male at Birth), and perhaps further annotations about what treatment was provided. If that pedigree fell into the wrong hands, the parents and the treating physician could be charged with child abuse. And, by law, you may be required to report it to the state, just as health professionals are usually required to report any type of child abuse.

*Pedigree indicating child abuse in some states*

A genetic counselor could be put in the position of either falsifying the medical record or omitting clinically critical information. Talk about a rock and a hard place.

In the idyllic past, we mostly worried about insurance companies getting their hands on pedigrees. Now we have to worry about the prosecutorial system accessing them. Absolutely nothing good will come of that. It’s possible that the judicial system may block or limit some of these laws, but I am not too hopeful at the moment.

Nothing in science and medicine is value-neutral. Everything we utilize and do in our clinical practice can be used for good and for bad and we often have no control over how it is used and abused. Nor should we lose sight of the fact that one day future genetic counselors will look at our pedigrees and other practices and pass critical judgment on us. We should strive for ethical humility amidst our righteousness.

As an added bonus for that small circle of practitioners who love pedigrees as much as I do – fellow PedHeads – you might be interested in this article I wrote long ago in a genetic galaxy far away about the history of the pedigree in genetics.

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Filed under Robert Resta

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GUEST POST: The NSGC Annual Conference needs a high-grade mask mandate

NSGC Board: With Roe Overturned, and Over a Decade Without Medicare Recognition, It’s Time For Change

The Power Of Symbols: The Pedigree As A Tool of Conformity and Oppression

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