Category Archives: Robert Resta

by Robert Resta | May 29, 2023 · 6:36 PM

Beyond Genetics: The Uses and Abuses of Recording Family Histories

The explanation of the present lies in the properties of the past.

– Rebecca Cassidy, from “Arborescent Culture – Writing and Not Writing Racehorse Pedigrees”

Pedigrees have long been the backbone of genetics. Not surprisingly, therefore, we tend to think of pedigrees as primarily medical tools for analyzing inheritance patterns, assessing risk, and conducting research, as well an opportunity to elucidate the dynamics of family relationships. But pedigrees and the various other graphic, textual, and oral descriptions of family histories have played many roles over time and across cultures. These familial maps provide insight into the underlying and sometimes nefarious motives and goals of the mapmakers.

Here I propose 14 additional reasons family histories might be recorded, beyond clinical genetics. There is some overlap in these categories; the world has a tendency to not fit into neat and discrete categories. The Good Readers of The DNA Exchange might think of additional functions, and I encourage you to add your thoughts in the Comments section.

1. Curiosity About ”Blood Family”: Who were my ancestors? What were their lives like? How do they and their lives affect my life? Oral traditions of genealogy probably go back to the dawn of humanity. Starting around 4 centuries ago, as reading, writing, and education became more commonplace, the practice of recording a family history in graphic or text form started to become more commonplace. Think of the now largely forgotten tradition of The Family Bible, with its record of births. Or of folk art family trees with images of ancestors hanging from its branches. The widespread availability of relatively inexpensive DNA ancestry testing and online genealogical tools, along with genealogy-based TV shows like Finding Your Roots, has led to an explosion of interest in exploring and recording family histories. Of course, some people find out that “blood family” isn’t exactly who they thought it would be, which can disrupt familial relationships and lead to a whole host of complicated issues.

A mid-19th century American Family Tree, family name unknown (photo taken by the author at the American Museum of Folk Art in New York City).

2. Political: Pedigrees have long been tied to establishing the hereditary legitimacy of royalty to rule over a people. Some scholars argue that the words king and kin are etymologically related, and the oldest etymological sense of the word queen seems to simply be “wife.” European genealogies, especially among Germanic peoples, were described prior to the 11^th century but these were mostly succession lists of kings (often, but not always, father to first-born son) or attempts to trace ethnic origins to a mythological ancestor. One of the earliest surviving royal pedigrees is of the Carolingian Dynasty, created in the early 11^th century, some 200 years after the death of Charlemagne. In various versions of this pedigree, relatives were added or subtracted to legitimize claims to rule some of the lands that emerged after the empire’s collapse.

Another example of a pedigree strategically including or omitting different people, and perhaps fictionalizing some relationships, can be found in John Hardyng’s 15^th century rhyming verse Chronicle. Hardying (also spelled Harding) crafted a genealogy for Richard Duke of York and his descendants that managed to legitimize the entitlement of the House of York to the thrones of Britain, France, Portugal, and Spain. Oh, and Jerusalem too, for good measure. Hardying’s chronicle also attempted to de-legitimize earlier genealogical claims to the throne made by John of Gaunt, founder of the House of Lancaster. Hardyng’s Chronicle was propaganda that served as justification for The War of the Roses between these rival branches of the House of Plantagenet.

3. Religious: Genealogies have been used to establish divine lineages for religions. The so-called Tree of Jesse, which traces the ancestry of Jesus back to Jesse, the father of David, is a classic example of this, as are the Biblical Begats that trace the lineage of Adam to Noah. By the same token, Islamic genealogy traces the Prophet Muhammad back to Abraham and Adam.

Medieval monastic orders, particularly the Franciscans and Dominicans, created monastic “family trees” (called Ordensstammbäume) with a founder at its root and various prominent members of the order branching off the tree, evoking the sense of the monastic community as a kind of family.

Ordensstammbaume of St. Dominic. Etching by W. Hollar, 1655. Image from the Wellcole Collection, in the public domain https://wellcomecollection.org/works/ywj7s22q/items

Some rulers traced their ancestry back to gods to legitimize their right to rule – Caesar Augustus claimed to be descended from Venus, Mars, Jupiter and Juno; the Pharaohs claimed to be descended from Ra, the God of the Sun, Sky, and other domains. The 13th century Secret History of the Mongols, based on earlier oral and written works, detailed the partially mythological ancestry of Genghis Khan. Tibetan Buddhism incorporates spiritual genealogy into its practice, based on lineages of teachers and their pupils, their pupils’ pupils, and so on. Tibetan Buddhism also uses reincarnation lineages (who gets reborn as whom) to determine religious leaders and, ultimately, the Dalai Lama as a political and religious leader.

An Abbot and His Lineage , Western Tibet, 14th Century (Los Angeles Museum County ofArt LACMA M.80.188.jpg in the public domain)

Puritans believed that the books that will be opened on Judgment Day would contain genealogies, most notably “a register of the genealogies of New England’s sons and daughters.” In the Church of Jesus Christ of Latter-Day Saints, genealogy is critical in identifying those ancestors who died before the revelations of the Book of Mormon and who therefore need to be baptized. Posthumous baptism allows these ancestors to enter Heaven and also serves to strengthen eternal family bonds.

4. Legal: One of the oldest reasons for formally recording a family history was to determine the appropriate inheritance of land and property. The Roman legal text Pauli Sententiae (tr., “The Opinions of Julius Paulis”) from around 300 CE states that determining who is entitled to inherited property involves drawing up stemmata (s., stemma; essentially a form of a pedigree): “The stemmata of cognate relationships are separated by a straight line into two lines, one of which represents the ascendant and one the descendant. From the ascendant are horizontal lines starting at the second degree.”

It was also within the legal system that the word “pedigree” was first coined, in Norman-English legal documents. The word “pedigree” is actually a product of the Anglo-Norman dialect of England and did not enter “mainstream” French until the 1820s.

More recently, and more controversially, forensic genealogy has used DNA from commercial ancestry testing companies to re-construct pedigrees to identify potential perpetrators of crimes.

5. Establishing The Right to Be Assigned a Specific Coat of Arms: Coats of arms evolved from the designs on the chain mail armor of medieval knights, starting around the 12^th century. The right to display a specific coat-of-arms is determined by who your ancestors are, and are assigned by a central authority, such as England’s College of Arms. Applicants for a coat must register “a pedigree showing direct male line descent from an ancestor already appearing therein as entitled to arms” with the College, which then verifies the information.

120px-richard_of_york_3rd_duke_of_york_variant.svg_ — Coat of arms of Richard of York, 3rd Duke of York, father of King Edward IV, from Wikipedia https://en.wikipedia.org/wiki/Coat_of_arms

6. Ontological: Genealogies help establish a framework of reality and an individual’s relationship to the world about them. These genealogies incorporate the physical and metaphysical world. Genetic relationships may be secondary or irrelevant to such genealogies. For example, the Nekgini-speaking people of Papua New Guinea live in small villages called palems. Siblings are defined as all members of the second generation that have lived in the same palem, regardless of genetic relationship. They are considered siblings because they have a shared knowledge of the land, spirits, and food particular to their palem.

Many Native American people trace their clans – and thus to some extent their families – back to creation stories that tell how the first people came into being, sometimes from the biological realm and sometimes from the physical realm. Clan names were often derived from the animal or plant from which the clan is descended

7. Anthropological Studies of Kinship: Starting in the late 19^th century, and extending well into the 20^th century, kinship analysis formed a core part of ethnographic studies of what were viewed as “primitive cultures” (typically in countries that had been colonized by Western Europeans). Classic studies in the tradition of Lewis Henry Morgan, W.H.R. Rivers, and E.E. Evans-Pritchard typically imposed their Western view that genetic relationships universally formed the basis of kinship, which was often at odds with how the societies they were studying viewed kinship. Indeed, anthropologists often complained of the difficulty of trying to overlay English kinship terms and relations onto native systems and terminologies. Not every culture views relationships in terms of a branching genetic tree or genetic ancestors.

As an interesting aside, in classic anthropological pedigrees males were sometimes depicted with triangles rather than the squares characteristic of genetics-based pedigrees. This may just reflect a difference of tradition, but one could speculate that it was a conscious attempt to distance anthropology from eugenics. The image below is Margaret Mead’s pedigree of the kinship relationship system of the West African Twi from 1925 (but not published until 1937), probably just before she left to start her (in)famous fieldwork in Samoa. It is one of the earliest anthropological pedigrees to use symbols to denote people. It was drawn at Columbia University where she was a graduate student studying with Franz Boas, a founding figure of anthropology and one of the most vocal critics of eugenics. So it’s not out of the question that the triangle male could conceivably be a nose-thumb at eugenics, though I am unaware of hard evidence to support this contention. Mead’s kinship pedigree, by the way, was based on information provided by Ansa, another student at Columbia University who gave his address as Kwadjowusu, via Apegusu, Gold Coast. The text around the edges indicate the name of that relationship rather than the name of that individual, e.g., nana = any grandparent (funny how some words like nana seem almost universal). Twi relationship terms can vary with whether the speaker is a man or a woman.

8. Mate Choice: Many societies impose rules on who one can or cannot marry or have sexual relations with, dependent on the relationship between the two people. Indeed, “incest taboos” exist in virtually every society, though with different criteria as to what constitutes an incestuous or inappropriate relationship (not always limited to genetic relatives). In Western Europe where, for reasons that are not entirely clear, the Catholic Church tightly regulated marriage to genetic relatives to an astounding degree of relatedness (but also regularly granted exceptions when it was politically or economically expedient). A couple, usually royal or aristocratic, who wished to be married would submit their pedigrees to the Church, which would decide whether the union was acceptable according to relationships established by an arbor consanguinitatis, a table that laid out the degree of genetic relationship between various family members.

9. Ego Gratification and Social Status: People often search their family history in hopes of finding a Genghis Khan or a Charlemagne (statistically, it’s relatively likely that everyone has a famous ancestor). Americans like to find a relative who was one of the 100 or so people who “came over on The Mayflower,” and many Aussies find a certain pride in being descended from a transported convict. Somehow it makes you feel just that much more special.

Ancestry-based social organizations can provide a sense of shared ideology and elite status – and perhaps a distorted sense of patriotism. Membership in the Daughters of the American Revolution (DAR) is available to “[a]ny woman 18 years or older who can prove lineal, bloodline descent from an ancestor who aided in achieving American independence is eligible to join the DAR. She must provide documentation for each statement of birth, marriage and death, as well as of the Revolutionary War service of her Patriot ancestor.” Likewise, membership in the United Daughters of the Confederacy and the Sons of Confederate Veterans require an ancestor who fought for The Confederacy during the American Civil War. Members see themselves as socially privileged, based on a shared ancestry, racist ideology and false narratives about slavery and the Civil War.

10. Tools of Oppression and Conformity: As I’ve written about previously in this space, pedigrees have been used to oppress people, as happened with the American (and other) Eugenics Movements. Pedigrees could be the basis of life and death in Nazi Germany, when any Jewish ancestry could have tragic consequences. Pedigree symbols have also typically forced people into one of two genders, male or female.

11. Social Organization: Genealogy can serve as a basis for organizing social structure and social interactions. In the late 7^th and early 8^th century, Hishām ibn al-Kalbī authored a comprehensive and massive genealogy called Jamharat al-nasab (“The Multitude of Genealogy”) that amassed ~35,000 names and included the paternal lineages of most of the Arabian peninsula. al-Kalbi’s genealogy organized the various Bedouin tribes of the area and traced them to two ancestors, Qahtan (Noah’s great-great grandson) for the southern tribes, and Adnan, a descendant of Abraham, for the northern tribes. Arab genealogy, (nasab in Arabic), served to structure social relationships – who owed allegiance to whom, who had elite status based on being a Sayyid or direct descendant of Muhammad through his daughter Fatimah (all 3 of the Prophet’s sons died young), potential marriage partners, who could be a sheikh, and in the organizing of the diwan (networks through which money and other goods were distributed). There is reason to believe that al-Kalbī may have created some fictitious relationships and down-played the importance of some tribes, perhaps for political purposes.

Interestingly, in the early Arabic Medieval period, the human body, rather than a tree, served as a metaphor for genealogical relationships, with various parts of the body representing different segments of ancestry, starting with an entire ethnic group at the top of skull and proceeding on down to the extended family at tip of the lower extremity.

12. Describing Family Dynamics: Social Work and Psychotherapy have an equivalent to a pedigree called a genogram. A genogram looks just like a genetics pedigree but uses a variety of graphic lines that connect individuals to one another to indicate their emotional relationships (e.g., Very Close, Estranged, Sexual Abuse).

A Genogram. Image from Genopro (https://genopro.com/articles/what-is-a-genogram.aspx)

Genetic Counseling has a similar but infrequently used tool called the Colored Eco-Genetic Relationship Map (CEGRM), developed by genetic counselors Regina Kenen and June Peters in 2001. According to its authors, the CEGRM “… combines information that can be derived from pedigrees, genograms, ecomaps, and social network analysis in a single, or series of, pictorial maps based on colors and shapes. The CEGRM is based on a social systems perspective, particularly emphasizing social exchange and resource theories.”

13. Poetry/Literature: There is a very old tradition of establishing the mytho-historical origins of characters in epic poems. The genealogy at the beginning of The Iliad links the lineage of the Greek Gods to humans and to the natural world. The opening verses of the Indian epic Bhagavid Gita, which describes a battle between the armies of two cousins, lay out the familial links among various warriors on both sides. In addition to its deep spiritual messages, this epic examines the internecine and senseless nature of intra-familial conflict.

Teachers, fathers, sons, grandfathers, maternal uncles, grandsons, fathers-in-law, grand-nephews, brothers-in-law, and other kinsmen are present here, staking their lives and riches. O Madhusudan, I do not wish to slay them, even if they attack me. If we kill the sons of Dhritarashtra, what satisfaction will we derive from the dominion over the three worlds, what to speak of this Earth?
– From the opening verses of the Bhadavid Gita

In more recent times, many novels structure their narrative around the stories of multiple generations of a family, like Thomas Mann’s Buddenbrooks, Gabriel García Márquez’s One Hundred Years of Solitude, and Min Jin Lee’s Pachinko, to name but a few.

14. Dehumanization By Erasing Genealogies: Just as important as the functions of the existence of a pedigree is the absence and intentional obliteration of a genealogy. Slavery, especially in the Americas, resulted in the tearing apart of families. This started in their native lands, where families were often separated when people were forced into enslavement. Then, in the lands they were forcibly transported to, parents, children, and siblings could be further torn asunder when they were sold to different plantations, often with indifference to the family structure. Enslaved people could not be taught to read or write under pain of the lash or worse, so they could not even record their genealogy to try to maintain a record of their fractured families. Enslaved people were considered legally nameless until they were sold and some slave owners freely named their human property. Government censuses and wills often did not even give the dignity of recording names, or even just first names, of enslaved people.

The absence of a name along with eradicating a family’s genealogy were powerful ways to rob people of the essence of their humanity. If enslaved people had no humanity, then you can justify enslaving them and depriving them of any rights. They are no better than property or animals (though antebellum “gentlemen” were careful to record the pedigrees of their race horses).

Federal Slave Census Schedule, Warren County Mississippi, 1860. Only a few names of enslaved people are recorded. Image from The National Archives, https://www.archives.gov/files/calendar/genealogy-fair/2018/2-kluskens-presentation.pdf

Family histories help societies and people make sense of their lives and the world they live in by telling a particular story. Every family history is a family story. But every story has a reason it is being told, one that determines the cast of characters, why they are included, and why some characters are left out. Some stories are noble, some mundane, some medical, some political, and some are religious. The darkest stories are those that oppress and those that cannot be told because they have been destroyed, taking with it the soul of a people.

________________________________________________

For additional postings about pedigrees, see:

https://thednaexchange.com/2023/01/26/left-right-left-right-pedigree-standards-march-into-the-future-and-start-to-leave-behind-the-male-gaze/

https://thednaexchange.com/2013/04/16/and-bobs-your-uncle-a-guide-to-defining-great-aunts-great-great-grandparents-first-cousins-once-removed-and-other-kinfolk/

https://thednaexchange.com/2022/05/15/the-power-of-symbols-the-pedigree-as-a-tool-of-conformity-and-oppression/

https://thednaexchange.com/2011/12/04/the-implicit-judeo-christian-ethic-of-pedigree-nomenclature/

https://thednaexchange.com/2023/01/03/no-quibbling-over-sibling-sisters-and-brothers-we-are-one/

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Filed under Robert Resta

Tagged as family history, functions of genealogy, genealogy, history of pedigrees, pedigrees

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 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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by Robert Resta | January 8, 2022 · 5:25 PM

The Questions We Should Really Be Asking After Reading the NY Times Article About Prenatal cfDNA Screening For Microdeletions

As the genetic counseling world knows all too well, the New York Times recently published a story about prenatal cfDNA screening for chromosomal microdeletion syndromes. The gist of the article is that screening for microdeletions has a high number of false positives that produce significant patient anxiety and, in a very small number of cases, patients have elected to terminate a pregnancy before confirmatory diagnostic testing. The Times piece generated 1100+ comments on its site, including many from genetic counselors and physicians, not to mention vitriolic sturm und drang on various social media.

Clearly the article touched a collective genetic counselor nerve — a lot of the reaction has been more reflexive than reflective. Which is kind of surprising, considering that cfDNA for microdeletions is a so-so screen for a handful of rare conditions that genetic counselors have not widely agreed should be included on these tests.

Most of the criticism centered on the article not always making a clear and consistent technical distinction between a screaming test, er, uh, I mean, a screening test (which cfNDA is) and a diagnostic test (which cfDNA is not). This confusion has been an ongoing problem since the early to mid-1980s when AFP screening for neural tube defects — and maternal anxiety over testing — was first working its way into clinical practice (I remember one of my patients back then referring to AFP as “alpha-fucking protein”). Forty years later, and the anxiety and misunderstanding has not improved much.

Some of those criticisms are fair, particularly when the article describes cfDNA results as being “wrong” or “inaccurate.” To the specialist, the term false positive has a very specific definition,* and hence the source of the reaction to the article. But from a semantics standpoint, doesn’t the word false in false positive imply wrong? You can also think of calling a result “wrong” as an example of the tried and true counseling strategy of reframing, i.e. “Well, Jane, your test result actually says that there is more than an 80-90% chance your baby does not have a microdeletion.”

In my opinion the article otherwise does a decent job of highlighting the statistical complexities of cfDNA. The accompanying Figures are helpful in explaining what is essentially the positive predictive value of the tests. In fact, I think the graphics are better than the explanations and graphics on many of the testing laboratories’ websites. Many of these websites are even guiltier of muddling the differences between screening and diagnostic tests, and labs really should know better. It’s no wonder that patients might be confused and anxious when they read that a test is “highly accurate,” “an alternative to amniocentesis or CVS,” and can be assured of a “healthy baby” when results are normal. To be fair, some of the websites also address the distinctions between screening tests and diagnostic tests, but only if you click down into the rabbit warren of information.

I think most of the criticism by genetic counselors glosses over more important and fundamental questions that should be the focus of critiques of prenatal testing and our reaction to the Times piece (here I am defining prenatal testing as including screening and diagnosis). These critical questions include:

• Should we test for any condition prenatally? This is an ethically and for some a religiously complex question but it underlies all of the subsequent questions.

• If there is broad agreement that prenatal testing should be available, then what is its purpose? Realistically, with a few exceptions, is there any purpose beyond selective termination? While termination is an important option and benefit of the test for some, it’s not a course of action that all parents will choose. Some parents might decide to have prenatal testing for “preparation” but as I have argued elsewhere there is minimal data saying one way or another whether prenatal knowledge of a condition helps babies or their families, medically, emotionally, or developmentally (thought at least one study is beginning to address this shortcoming). If patients are going to be put through the emotional ringer of prenatal testing, we should be able to provide solid data on whether prenatal knowledge of a condition provides benefits in addition to the option of termination.

• What criteria should be used in determining which conditions should be subject to prenatal testing? Even if every genetic condition could be detected prenatally (and we might actually get close to that point one day), it wouldn’t make sense to test for many of them. Clinically rational and ethically acceptable criteria need to be developed to guide the selection of conditions to consider for prenatal testing.

• Who decides which conditions are screen-worthy? As Ilana Löwy and others have noted, commercial labs often spearhead this choice but decisions are reinforced and supported by the medical and genetics communities that order the testing. If no one ordered a test, labs wouldn’t offer it. As Liza Minelli, Joel Grey, and Scarface remind us, money makes the world go around. Are we screening for some conditions primarily because we can screen for them and labs offer it? What about input from patients, the public, multiple medical specialties, ethicists, social scientists, people with disabilities, and others?

• Is widespread screening for rare conditions the best use of laboratory and genetic counseling resources? Follow up of screen positive results consumes a significant amount of genetic counselor time and energy, to say nothing of patients’ anxiety and health care costs. Should these resources be focused on more pressing conditions?

• Many jobs in the genetics sector — labs and clinical providers — are dependent on the existence of genetic testing. Labs make their living off of testing but so do many genetic counselors working in clinics. While genetic counselors are not trying to push testing on patients, many genetic counseling jobs depend on the availability of genetic testing, either helping patients decide whether to have a test or explaining results to them once the testing has been completed. For better and worse, the genetic counseling profession has intimately identified itself with genetic testing. Clinics would employ far fewer prenatal, cancer, cardiogenetics, and other specialty genetic counseling jobs if there were not so many genetic tests. Think about how many clinical positions would evaporate if prenatal testing — or, really, almost any genetic testing — disappeared tomorrow. Some jobs would remain, for sure. But the demand for genetic counseling would likely drop off significantly if fewer tests were available. How much does this conflict of interest influence genetic counselors’ attitudes toward, and willingness to adopt, genetic tests, and how much does it subtly and subconsciously influence some of the strong reaction to the Times article?

• First and foremost, a patient’s decision to undergo — or not — prenatal testing should be preceded by a soul-searching exploration with partners and care providers about what parents want out of their children and addressing parental fears of disability, along with ethical and spiritual reflection. The decision requires more emotional expertise than numerical expertise. Should we be offering tests to all pregnant women that require them to master abstruse statistical knowledge in order to decide about whether to pursue testing? Even in a (unrealistic) world where all pregnant patients meet with a genetic counselor prior to testing and everything was explained in excruciating detail, many patients will misinterpret, forget, and misunderstand most of the technical information about false positives, false negatives, and distinctions between diagnostic tests and screening tests. What is the best way for patients to make medically and emotionally informed decisions? Laboratory website are less than ideal sources of information. Websites are essentially marketing tools, and marketing is antithetical to nondirectiveness. Chatbots alone don’t cut it for this purpose, although they could have an ancillary role.

• What message does it send to people with disabilities, their families, and their advocates if we continually add, seemingly willy-nilly, more and more genetic conditions to the prenatal testing list, especially, as I noted above, if they obtain no tangible benefit from testing? More testing readily begets further routinization of testing. And when you start testing lots of pregnancies for lots of conditions, you start creeping further into eugenic territory.

There are no easy solutions to any of these questions. Some may very well prove to be unanswerable and some parties will remain dissatisfied if we do manage to come up with some answers. It will involve vigorous and at times contentious debates among multiple viewpoints, and lots of people convinced that they are so damned right and why the hell can’t everybody else see that? But that doesn’t mean we shouldn’t be taking on the challenge. We may wind up with less than perfect answers, but they will be better than what we are doing now. The practice of genetic counseling demands it and patients deserve no less.

__________________________________________________________________

*- Another source of confusion here is the distinction between the false positive rate and a false positive result. The false positive rate is the number of pregnancies that do not have a condition but test positive. Thus, a lab can accurately claim that cfDNA for microdeletions has a false positive rate below 1%. You can see why a patient with a positive result might misinterpret that to mean there is over a 99% chance that her baby does indeed have a microdeletion. On the other hand, a false positive result is one specific patient’s test result which incorrectly indicates that a condition is present. Thus a patient who has a positive microdeletion result has an 80-90% chance that her baby does not have a microdeletion. Lord have mercy! You can see why pregnant patients might be confused. Then try to sort through all that while experiencing the joys of hyperemesis, or if you are a non-English speaking immigrant from a village in Central America working through an interpreter, or if you are also trying to figure out at about the same time the meaning of your rubella result, your HIV status, your nuchal thickness scan, and the results of your carrier testing.

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Tagged as cfDNA, Genetic counseling, microdeletions, NIPS, NIPT, NIPT for micro deletions, prenatal diagnosis, prenatal screening, prenatal testing

by Robert Resta | September 27, 2021 · 12:40 PM

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

by Katie Stoll | July 26, 2021 · 11:21 AM

ACMG Carrier Screening Guidelines: Falling Short On Equity and Inclusion

by Katie Stoll and Robert Resta

The American College of Medical Genetics and Genomics (ACMG) recently published a new Clinical Practice Resource that they proclaim recommends an “equitable approach for offering carrier screening to all individuals during pregnancy or preconception.”

We recognize the drawbacks of a screening program based solely on reported ancestry or ethnicity. And we understand that ensuring the same standard of carrier screening is available to all patients regardless of race or ethnic background addresses an important equity concern. However, the ACMG guidelines fall short in several areas:

Addressing the benefits of carrier screening
Questionable criteria for determining the severity of the included conditions
A limited definition of inclusivity
What choice patients should have in which conditions are or are not included in their personal screening.

The ACMG guidance is broad, calling for offering sequence-based population carrier screening for 113 genetic conditions to all patients who are pregnant or considering pregnancy. The rationale for expanded carrier screening according to the guideline is to allow for informed reproductive decisions. Specifically ACMG states that “reproductive decision making is the established metric for clinical utility of population-based carrier screening.”

Five reproductive options are described in the guidelines: 1) In vitro fertilization with preimplantation genetic testing for monogenic conditions 2) Use of donor gamete/embryo, 3) Adoption 4) Prenatal diagnosis using chorionic villus sampling or amniocentesis followed by a decision to either prepare for an affected child including special care after birth or to terminate the pregnancy. 5) A decision not to have children. We would add a sixth option – choice of reproductive partner, though perhaps this is more likely in situations of arranged marriages, such as with the Dor Yeshorim program.

Of these potential options, only one – prenatal diagnosis – is an option for those who undergo carrier testing during pregnancy, a fairly common occurrence. For most of the 100+ conditions included in the list, there is at best sparse evidence that prenatal preparation offers concrete medical benefits or that such knowledge enhances emotional preparation and psychological adaptation to having a child with one of these conditions. For a significant portion of patients who participate in carrier screening – those who are screened while pregnant – the only immediate benefits are either pregnancy termination or carrying to term. Therefore, the guidelines should also strongly recommend research into the specific ways that prenatal knowledge of any condition included in the panel either do or don’t enhance obstetric/neonatal management and/or parental emotional preparation and adaptation to having a child with the condition. Particularly for parents who would not consider termination or alternative reproductive pathways, we should be able to offer compelling evidence that carrier screening has measurable benefits for them and for their children if we are to claim that preparation is a benefit of screening.

ACMG states that they used “published definitions”’ to define the severity of genetic conditions considered for inclusion. The published definitions they are referring to come from one single study, published by Counsyl (now Myriad Genetics), a lab that was among the first to offer expanded carrier screening. In this study conducted in 2013, Counsyl surveyed people for whom they had emails in their internal database (presumably customers and/or staff) and asked respondents to provide their ratings of severity for five conditions that they felt represented a spectrum of health and developmental concerns. The outcome was responses from 192 genetic counselors and physicians. The opinions of these respondents is what ACMG is basing recommendations for a mass population carrier screening program.

The Counsyl study grouped severity into the following categories:

Profound: shortened lifespan during infancy or childhood, intellectual disability;
Severe: death in early adulthood, impaired mobility or a [disabling] malformation involving an internal organ;
Moderate: neurosensory impairment, immune deficiency or cancer, mental illness, dysmorphic features.

It is concerning that this study puts conditions that are associated with intellectual disability in the same group as those that are associated with death in infancy/early childhood. Also, if we look across the lifespan, many, if not most of us will experience some features that could be counted in the Severe and/or Moderate buckets.

We cannot assume that this limited survey of healthcare providers is representative of the viewpoints of the US population. This survey did not include the perspectives of people who themselves have lived experience with the conditions included on the ACMG panel, or even people outside of the medical genetics community.

A condition that comes up frequently with expanded carrier screening is related to GJB2-related DFNB1 nonsyndromic hearing loss. GJB2 is included on the recommended ACMG panel on the basis of population frequency (second only to CFTR on the basis of current US-wide population frequencies) and in that it is considered of “moderate” severity based on the Counsyl study. Many in the Deaf community do not consider hearing loss a disability or disease, and we imagine many people who are homozygous for GJB2 mutations would not classify their hearing loss as a moderately severe condition.

We need to recognize that as much as we might try to avoid bringing our own biases into the way we counsel patients, or how we define the severity of a condition, the mere act of offering a prenatal test is not value neutral. There are negative associations implied for any condition we are including on a prenatal testing panel that by definition has a clinical utility metric of influencing reproductive decisions. We need to recognize our responsibility in that it is us in the medical genetics community who determine what is included on genetic screens, and we are also who defines what these conditions are in how we describe them to patients (be that in how we write a summary on a lab report or counsel people in clinic).

Stakeholder perspectives beyond the genetics community should be involved in development of these guidelines including what is included on screening panels and how we define these conditions for our patients. Perspectives from people with intellectual disabilities, the Deaf community and those living with cystic fibrosis, sickle cell anemia, spinal muscular atrophy, and other conditions being considered for inclusion on a carrier panel should have their voices included.

ACMG has been called to task previously on the issue of not including patient voices in the development of guidelines; see Nothing About Us Without Us: Guidelines for Genetic Testing. And the National Council on Disability specifically recommended that “Professional standards of care for offering NIPS and other prenatal genetic tests should be established through consensus negotiations that include genetic counselors, obstetrics and gynecology care providers, and representatives from affected disability communities.”

Another concern not addressed in the guidelines is whether patients have a choice to not include certain conditions in a screen. For example, someone may wish not to screen for a specific condition given historical negative experiences of racial stigma and bias (see this interview and article to learn more about problems encountered when carrier testing for sickle cell was introduced in the 1970s). Someone may wish to limit screening only to conditions for which we have a high degree of certainty of outcome, or only to conditions for which death in infancy/childhood is expected and for which there are no effective treatments. As Lisa Dive and Ainsely Newson point out in a recent thoughtful paper on reproductive carrier screening, some may find screening for life-limiting conditions to be acceptable and prefer not to screen for all conditions on a panel. If the goal of carrier screening is to support informed and autonomous choices, patients should be able to decide what is included on their screening.

Concerns regarding how conditions were defined and about the lack of diverse stakeholder perspectives, including those with disabilities and genetic conditions, were raised with ACMG during the development of this guideline and no actions were taken to address them. In ACMG’s email announcement to members about the new Practice Resource, lead author Anthony R. Gregg, MD, MBA was quoted as saying, “The benefits of carrier screening are clear. The greatest benefits can be achieved by accepting the challenge that all women be offered carrier screening not during pregnancy, but as they move from being pediatric patients to patients requiring well-women care. Professional organizations must respond to this call.” At the same time, ACMG is pushing state legislatures to not allow genetic counselors to order genetic testing. For many patients, genetic counselors are a common point of contact in preconception planning and during pregnancy. It is hard to see how such a policy enhances equity and access to testing if a genetic counselor cannot order a genetic test.

We will be waiting to see how professional organizations respond to this call. While it is too late for change to come with ACMG’s publication, other professional organizations including the American College of Obstetricians and Gynecologists (ACOG) and the National Society of Genetic Counselors (NSGC) can do better and demonstrate a genuine commitment to advancing equity and inclusion for all people by including diverse stakeholder voices, including those with genetic conditions and disabilities, in the development of guidelines related to carrier screening.

As the healthcare providers charged with the responsibility of guiding care, it is imperative that we do the important work of inviting all marginalized stakeholder populations to the table, hear their concerns, and address them before releasing guidelines that shape policies that will affect all of us. Equity extends beyond access to health services. As explained by Dr. Richard Besser at the Robert Wood Johnson Foundation:

Health equity cannot be achieved without actual lived experiences informing and advancing policies, regulations, laws and initiatives that address disability rights, accessibility and inclusion.

6 Comments

Filed under Katie Stoll, Robert Resta

Tagged as ACMGG, carrier screening, disability rights, Diversity Equity and Inclusion, Health Equity, practice guidelines

by Robert Resta | November 18, 2020 · 10:27 PM

What A Mess

The single biggest problem in communication is the illusion that it has taken place. – Apocryphal quote, likely incorrectly attributed to George Bernard Shaw

A South Carolina court recently granted a summary judgment in favor of the defendant in the case of Williams v. Quest Diagnostics, Inc., Athena Diagnostics, Inc, ADI Diagnostics, Inc. The ruling is particularly relevant to the genetics profession because it concerns the potential legal implications of the classification of genetic variants.

This legal odyssey began nearly 5 years ago but the clinical story began 14 years ago, and was first reported here on The DNA Exchange. Briefly, Amy Williams, the plaintiff, filed a suit in 2016 on behalf of her deceased son alleging negligence on the part of Athena (now owned by Quest) when in 2007 it classified a variant in the SCN1A gene as a Variant of Uncertain Significance (VUS) in her son who had a seizure disorder. SCN1A pathogenic variants are diagnostic for Dravet syndrome.

Multiple specialists were involved in the child’s care, but it seems from the medical records that none of them were actually aware of the genetic test results. The ordering physician could not recall having seen the report and the treating physicians never received a copy of the report or a communication from the ordering physician about the result, even though a copy of the report is in the medical records. Consequently, her son’s treating physician kept him on carbamazepine, a sodium channel blocker that is contra-indicated in children with Dravet syndrome. Sadly, he died about 6 months later, likely due to the contraindicated medication. Ms. Williams did not find out about the SCN1A result until nearly 7 years after the report was issued, and then only after a genetic counselor who was sifting through the records found a note from 2008 referring to an SCN1A VUS (for a fuller description of this saga, I refer you to the excellent articles written by Turna Ray, a journalist for Genome Web).

The lab’s defense rested on a legal technicality of the statute of limitations. Per South Carolina law, litigation cannot be brought against a healthcare provider if the offense took place more than 3 years prior to the filing. The lab’s lawyers argued, and in 2018 the South Carolina Supreme Court agreed, that a lab qualifies as a healthcare provider under state law. Subsequently, Judge Margaret Seymour, the judge who presided over the original case (and who displayed an excellent grasp of the genetic and legal issues), found that several of the plaintiff’s claims were “comprised of allegations sounding in both medical malpractice and ordinary negligence” and allowed the matter to move to discovery for the purpose of determining what caused Athena’s laboratory staff to misclassify the gene variant. Ms. Williams and her lawyers proceeded with the case based on “claims for wrongful death, survival, negligent misrepresentation, constructive fraud, and violation of the South Carolina Unfair Trade Practices Act.” Following discovery, the defendants requested a summary judgment to dismiss the case (in a summary judgment, either a plaintiff or a defendant can assert that the facts in the case are not in question and ask the judge to make a decision on the case without a full trial).

Judge Seymour based her decision on the statute of limitations ruling by the South Carolina Supreme Court and the likely inability to prove proximate cause (i.e., that the VUS classification led to continued treatment with carbamazepine which then caused the child’s death), and dismissed the case: “The court concludes that no reasonable jury could find Defendants erred in classifying Decedent’s variant as a VUS, or that any misclassification was the result of nonmedical, administrative, ministerial, or routine care. Defendant’s motion for summary judgment is granted as to this issue.”

In an unfortunately cruel twist, Ms. Williams and her lawyers may owe Quest and its lawyers ~$140,000 in court sanctions imposed after some personal emails and other documents that, in my view likely had little bearing on the facts of the case, were deleted or improperly withheld because of less than stellar legal representation. The defendant’s lawyers offered to drop the costs stemming from sanctions if Ms. Williams agreed not to discuss the case in public forums and to discourage others from doing so. However, she did not agree to the proposal and remains firm in her belief that her son’s story needs to be discussed in public for the benefit of the public and the genetics profession, even in the face of potential financially ruin.

Was Athena’s original variant classification appropriate? Published case reports at the time the interpretation was first issued suggested that the SCN1A variant could be likely pathogenic (that was not the common terminology at the time), one of which was co-authored by Athena staff. Yet comments in the test report state there is an “absence of published studies correlating these variant(s) with clinical presentation and/or pathology.” In April of 2009, 2 years after the report was issued, Athena reclassified the variant as pathogenic, although they cited no new evidence beyond what was available when the report was first issued. Specialists in variant classification, who understand the intricacies of variant classification far better than I do, have weighed in and most have argued that Athena’s original classification of a VUS was appropriate for the knowledge available in 2007. Currently there are two entries for this variant in ClinVar, neither of which make an attempt at classification. I am not about to get into a debate with good scientists who know a heck of a lot more than I do about variant classification. I will say this, though, as someone who orders genetic testing every day, I rely heavily on labs to interpret variants and to let me know when there is in a result that might be grayer than ordinary. Especially in a case where a treatment decision with life and death implications hinges on a test result, I would expect the lab to explain their justification for the interpretation and to have made it clear in writing in the report. A phone call to the ordering provider wouldn’t hurt either, to be sure that the critical information and any uncertainty is clearly communicated.

Just as egregious, Ms. Williams should not have learned of a genetic test result almost 7 years after it was issued, and then only almost incidentally. Nor does it appear that the physicians who cared for the child were aware of the updated classification or communicated it to one another – not surprising, given that they were apparently unaware of the original report. Had she been notified in a timely manner, she may have initiated a discussion of why the variant was classified this way and if the evidence was strong enough to be the basis for treatment decisions. Of course this burden should not be on the patient but it could have offered another opportunity for further exploring treatment decisions based on the result. Many of us in the medical field, including me, have been critical of the requirement of the 21st Century CURES Act to notify patients of test results within 24 hours of when they are ready. My grumbling aside, Amy Williams and her son would have greatly benefited from being notified of her son’s result 24 hours after it were available. Does it have to take an Act of Congress to ensure that healthcare providers are responsible communicators with their patients?

In my view, nothing good came of this case in terms of the reputation of the genetics community, though of course nowhere near as bad as the devastating effects for Amy Williams and her son. To resurrect the line from the Captain’s speech in the movie “Cool Hand Luke“, what we have here is failure to communicate. Basically, a child may have died prematurely because of poor communication between the lab and care providers, between care providers, between care providers and the patient’s mother, and between the lab and the patient’s mother. Everybody lost and nobody won, even if Athena/Quest won from the perspective of not having to pay damages.

Will we now become better at communicating results to patients? Perhaps the CURES Act will help some. But as genetic testing expands well beyond the genetics community, communication about the implications of test results will likely still be deficient in many instances, in part because many non-specialists who order genetic tests are not particularly adept at interpreting them. Furthermore, although it’s hats’ off to ClinVar and other collaborative efforts for classify variants, variant classification will continue to be an Achilles’ heel of genome analysis because there is just no profit in it and it can be so damned complicated.

I look back on this story and feel a knot in my stomach.

11 Comments

Filed under Robert Resta

Tagged as Dravet syndrome, Genetic counseling, genetic counselors, genetic variant interpretation, patient communication, SCN1A, variant interpretation

Category Archives: Robert Resta

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What A Mess

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