In his poem American Sonnet Billy Collins compares a sonnet to “furrows in a small, carefully plowed field.” Classical sonnets are tidily structured works that more or less follow a format of 14 lines, often in rhyme, the last two of which offer a resolution to the problem or question set forth in the earlier lines.* The strictures and structure of a sonnet and the image of a plowed and furrowed field makes me think of how genetic counselors try to neatly organize genetic counseling sessions. The templated counseling notes we produce afterwards – some version of Patient Identification, Medical History, Family History, Counseling Provided, Summary and Recommendations – reinforce the idea of a structured session as well as the sonnet metaphor.
We try to impose structure, for reasons both good and not so good. In many clinical positions, most patients are coming to us with a handful of similar indications such that we wind up saying more or less the same things over and over, especially when we carry large patient loads. My roteness would become clear to me when a patient “interrupted” me with a question about something else altogether and I would forget where I was in my game plan. I was not listening to the message the patient was sending – they were not much interested in what I was talking about and they wanted to discuss something more important to them. Genetic counselors, with our professional insecurities, also subconsciously want to impress others with our arcane knowledge and prove that we can make an important contribution to the health and medical care of patients and their families. This manifests itself most acutely during the early stages of a career, when we are still slightly unsure of ourselves and are trying to establish a firm professional footing and reputation. But even wise veterans can get caught up in this style, including and particularly me (well, not anymore, now that I’ve converted to my favorite religion – Reitrementism).
While acknowledging the important role that numbers and information play in genetic counseling and patient care, a counseling session is at its core a psychological interaction between human beings. It took me – no kidding – a couple thousand counseling sessions before I even started to become a good genetic counselor and adapted my counseling to the basic psychological truth that the human mind usually expresses its emotional self in a non-linear manner. I knew this on a cognitive level but it took me years to actually incorporate this insight into my practice. To paraphrase Maya Angelou, people won’t remember what you said but they will never forget how you made them feel.
What does this mean in actual genetic counseling practice? I’m not advocating for omitting facts and figures or abandoning an over-arching loose structure. A counseling session should have a beginning and ending, and complex biomedical information often needs to be imparted. You can start out with a highly flexible plan of issues and information you think should be covered while at the same time be very willing to modify the plan or abandon it altogether to meet the unique needs of each patient. It might begin with a query as to what the patient wants to get out of the session, though some patients are better at articulating that than others and some just aren’t sure of what they want. But however you start, you need to be prepared for traveling with the patient as they veer off in often unclear directions that are sometimes different than what the patient originally articulated. Structure, numbers, information – they are so comforting and comfortable to us, like Collins’ neatly furrowed fields. But the safe zone of an organized educational format can make us hesitant to explore the unplowed fields of the patient’s psyche.
What we can discover in those unfurrowed fields is what is important to patients, why it is important, and how it influences the way patients makes sense of complex biomedical information and what they should do with it. Fear of going through treatment for cancer after having watched their parent’s body ravaged by chemotherapy. Anger at an employer for creating an emotionally or physically toxic workspace and attributing their cardiomyopathy to this environment. A deep belief in “natural cures” that is being challenged by their lack of efficacy in treating their child’s illness. Feelings of abandonment and resentment toward a parent who died when the patient was an adolescent and who is now a parent of an adolescent themselves. Fear of having a child with a disability. A marriage adrift on two different seas. Distrust of medical practitioners stemming from having been treated disrespectfully in past encounters. All of the technical information can be so damn scary they don’t want to talk about recurrence risks or the chances of getting cancer or variants of uncertain significance, at least not right away and not by listening to what sound like a verbal spreadsheet. Genetic counseling is supposed to make the patient feel emotionally safe, not the counselor.
What this requires is actually attending to what the patient is saying or asking, especially if it has little to do with what you are discussing. You don’t want to briefly comment on what sounds like a non-sequitur from the patient and then return to the safety of your comfortable structure. Following the patient’s lead can result in a session which travels in several different seemingly unconnected directions (Why is the patient going off at this angle?), loops back on itself several times (Hmm, why does the patient keep coming back to that?), or has you probing the patient with questions neither of you had anticipated (“And so you’re saying MRIs are scary to you because you have claustrophobia and you’ve also read that the MRI’s magnetic field is thousands of times stronger than the earth’s magnetic field at its surface, and that’s why you are reluctant to undergo hereditary cancer testing?”). It can become a near stream of consciousness session that resembles James Joyce’s Ulysses more than Elizabeth Barrett Browning’s tenderly romantic How Do I Love Thee?. Joyce’s novel begins with the famous opening line that seems to presage a typical narrative – “Stately, plump Buck Mulligan came from the stairhead, bearing a bowl of lather on which a mirror and a razor lay crossed.” – then quickly changes tone and explores the depths of the minds of the novel’s characters and ends with Molly Bloom pouring out her innermost thoughts in an unpunctuated iambic-pentameter-be-damned eight sentence ~22,000 word uninhibited and unfiltered soliloquy. Kinda’ like a counseling session can go (Nothing against Barrett Browning. She is a marvelous poet; just a different style than Joyce’s).
I don’t know how AI chatbots will play out in the genetic counseling arena and how they might influence the structure of genetic counseling sessions. It seems possible that they might one day be capable of carrying out a psychologically sophisticated interaction with a patient that matches a counselor’s skill set as well as taking into account the patient’s socioeconomic situation, though I suspect not in the immediate future and hopefully not until the ethical issues have been addressed (for an amusing take on chatbots and genetic counselors, check out my post Genetic Counselor Reinvented). My bigger immediate concern is that administrators will simply see chatbots as a replacement for genetic counselors rather than as an ancillary tool for genetic counseling. Or that administrators will employ a strategy that employs both genetic counselors and chatbots but increases counselors’ patient loads on the premises that chatbots are doing a lot of the work and so you can fit more sessions into a counselor’s schedule. This ignores the emotional toll on genetic counselors who work with patients in stressful situations and will likely lead to counselor burnout and poorer quality patient care.
The potential and concerns about AI aside for now, the semi-chaotic session is often more valuable to patients than the biomedical lecture. Yeah, it can look and sound like a mess and be just as dense and difficult to understand as Ulysses. But that mess is where the beauty of the patient’s mind lies. Which is why we need to use our counseling skills to sort through the mess and understand the psychological meaning of the patient’s words, beliefs, actions, and choices. Hence the wonderful messiness of genetic counseling.
The Brain — is wider than the Sky — For — put them side by side — The one the other will contain With ease — and You — beside — by Emily Dickinson
Over the centuries, poets have played with the format of the sonnet to breathe new life into it, such as Wanda Coleman’s American Sonnet 91 and other of her decidedly non-linear poems that explore race and racism in America.
Polygenic risk scores* are all the rage these days. Thousands of articles and research studies have attempted to link polygenic scores to just about every medical condition, behavior, and trait you can think of, and a few I had not thought of such as reproductive behavior. They have contributed to improving our understanding of human genetic architecture, hold potential for guiding treatment decisions, and have started to open the black box of gene-environment interplay, to name a few applications. Polygenic scores have laid bare the racial/ethnic bias in genetic data bases that have proven to be overwhelmingly comprised of people of Northern and Western European ancestry and shamed the genetics community into striving to better serve all communities. They have also been used inappropriately in clinical practice, such as with preimplantation genetic testing to predict potential height and intelligence of an embryo (quite poorly as it turns out) to determine its “implant-worthiness.”
The value of polygenic scores in clinical settings, despite the optimism expressed in many of the publications, remains unproven for the most part. Time and more research will presumably filter out the clinical winners from the losers. But we also need to sort through the thorny ethical, economic, and social justice issues with equal intensity and resources.
One particular application of polygenic screening is undermined by a naïve understanding of human psychology and a failure to learn from past experience in genetics – population polygenic screening for common conditions such as cardiovascular disease, diabetes, hypertension, and cancer. I don’t believe that polygenic scores will have a particularly strong impact on reducing the impact on morbidity and mortality from these common conditions. There is ample evidence that genetic testing has little or no effect on risk-reducing behaviors. In fact, I’d go as far to say that the research investment into population polygenic screening for these conditions is disproportional to their likely medical benefit.
The aim of polygenic screening for health conditions is to produce a number, some likelihood that a healthy person will eventually develop condition X, and that risk estimate would be the basis of medical recommendations to reduce or manage the risk. As with all likelihood estimates in clinical care, polygenic screens, with or without inclusion of demographic and clinical variables, will be imperfect, maybe slightly more or less imperfect than estimates derived by other means. Genetic counselors have been dealing with such numbers since we first entered clinics half a century ago and began providing patients with empirical recurrence risks for genetic conditions or the probability of having a baby with an aneuploidy based on parental age or screening results. Some think that providing numbers is the purpose of genetic counseling but it turns out to be only the beginning of the counseling session (emphasis on counseling).
The naïve assumption underlying polygenic screening for common conditions is that the risk number will magically motivate people to undergo more frequent colonoscopies, breast MRI, change their diet, stop smoking, exercise more, and reduce the stress in their lives. Yeah, well, good luck with that, at least on any large scale, on a sustained basis, and outside the context of a research study of self-selected participants conducted over a short time span. Sure, some people will be nudged into screening uptake or lifestyle changes, and a smaller percentage may even keep it up. But decades of experience have shown that most people are going to continue doing what they are doing with their lives – healthy behaviors or not – thank you very much.
There is a persistent but mistaken view in genetics, and medicine in general, that the human psyche is an objective statistical risk calculator and the “right” number will motivate people to do the “right” thing. This is a zombie concept that, like nondirectiveness, refuses to die. But the human mind is a complex and not entirely rational system, at least not like a Sherlock Holmes ratiocinative detective type of rationality. Numbers are embedded in a patient’s psychological, emotional, life-history, social, economic and political matrix that can vary over the short and long term. Numbers are interpreted or misinterpreted or denied or ignored such that it fits into the patient’s elastic view of the world. The results are often decisions that seem to make no sense or appear ludicrous to medical professionals but makes perfect sense to patients at this point in their lives. That decision could change over time, sometimes for apparent reasons such as the death of a family member, and sometimes for no obvious reason. They can even change from a “good” decision to a “bad” decision.
Of course, some people seem to be nominally objective decision-makers, the so-called engineer or statistician types. The patients who suddenly become actively engaged in the genetic counseling session once numbers are tossed out for discussion, dissecting and closely questioning their accuracy, how they were derived, and what the confidence intervals are. If you bring up statistical measures such as area under the curve or Cox proportional hazards, they even seem mildly sexually aroused. But the engineers and statisticians ultimately interpret numbers psychologically, just like the rest of us.
I don’t mean to imply that polygenic scores are totally useless. One of our jobs in medicine is to find ways to reduce the impact of disease on patients’ lives and polygenic scores might provide some help to that end. Research into polygenic traits can contribute to the scientific understanding of human and medical genetics. And polygenic scores will likely have some clinical utility. I can see some settings where a health risk has already been identified and a polygenic score can help further refine that risk. For example, polygenic scores might modify the ovarian or breast cancer risk or the age of onset in a patient who carries a pathogenic BRCA1 variant. It could then influence timing of risk-reducing surgeries or help determine if such surgeries are even necessary. Readers can undoubtedly think of other scenarios where polygenic screens might help influence decision making by high risk or affected patients.
We need to scale back expectations that population polygenic screening will significantly reduce the morbidity and mortality stemming from common conditions. I suspect that its impact on disease and death will be modest and at times unclear, perhaps with an occasional success story. The minimal research that has been done to date on the uptake of screening or other medical recommendations after a polygenic screen have produced mixed results and are not overwhelmingly convincing, though of course further research may prove otherwise.
There are also technical reasons to suspect that polygenic screens may not work well on a population level as measured by detection rates, false positive rates, and positive predictive values. In addition, existing inequities in access to and utilization of health care will further reduce the utilization of polygenic scores and subsequent follow-up of medical management recommendations by patients. If you don’t have access to good medical care and the appropriate interventions, or you can’t pay for it, or you have a lack of trust in the system, what good is screening?
Figure 2 from Hingorani AD, et al, BMJ Medicine 2023;2:e000554. doi: 10.1136/bmjmed-2023-000554Performance in screening estimated for polygenic risk scores included in the Polygenic Score Catalog from April 2022. Limits of each box represent interquartile range and horizontal line within each box is estimated detection rate for a 5% false positive rate (DR5) based on performance metrics reported for corresponding polygenic risk scores. Selected diseases are colour coded into categories cancers, cardiometabolic conditions, ocular diseases, allergic or autoimmune diseases, bone disease, and neuropsychiatric diseases. Horizontal line is estimated median DR5 value based on performance metrics for all 926 polygenic risk scores and all diseases studied in the Polygenic Score Catalog.
We need to take a hard look at just what we expect to achieve with polygenic scores. A lot of energy, resources, and finances go into research and publications about polygenic screens. Perhaps that time and money could better be directed to research where benefits of polygenic testing are more likely to be realized or to other areas of genetic research altogether, like how and why people make decisions about healthcare and how it is affected by personal, economic, social, historical, and political factors (think Covid vaccination uptake).
The medical genetics community may be resistant to my recommendations. Some of that resistance will be based on thoughtful and understandable disagreement with my opinions and their own assessment of the potential of polygenic scores in a population setting. But underlying some of that disagreement, and some of the enthusiasm for polygenic scores, is that all the players in the genetic testing game have blind spots and conflicts of interest. Researchers in the academic/clinical research industrial complex need grants and publications to further their careers. This includes not only Principal Investigators, but also the many other people necessary to conduct research – ethicists, research assistants, junior investigators, etc. The genetic counseling profession has for better and worse taken up genetic testing as its defining role in the medical system, and genetic counselors working in direct patient care demonstrate their economic worth to their employers by increasing the downstream revenue that results from genetic testing (revenue raised directly by genetic counseling alone is rarely enough to cover salaries and benefits). Commercial laboratories make their money by selling genetic tests; not a bad thing in and of itself but it can cloud one’s views. With all these players all talking the same game, they can lose sight of what’s good for the fans and unintentionally prioritize what’s good for the teams, such as citing improving institutional revenue from increased imaging as one of the benefits of polygenic scores or direct-to-consumer commercial labs offering polygenic scores when the health benefits remain at best unclear. I am not suggesting that researchers, genetic counselors, and labs are unethical and I am not questioning their dedication to quality medical care for patients. They are just being human and the human mind has a way of persuading itself that it’s doing the noble thing when in fact it may be putting its own interests first.
People interpret numbers how they want to interpret them. We see evidence of this on a large scale every day. Climate change is ignored in the face of rising temperatures and melting ice packs. Election results are denied because they don’t conform to the desired outcome. Millions of pandemic deaths are explained away as falsified or manipulated numbers to justify disregarding public health measures. This holds equally true for the results of genetic testing in populations. If we want genetic testing to be useful to our very human patients, we must develop a more sophisticated and less naïve understanding of the human psyche.
* – There is some controversy about the name “polygenic risk score.” “Risk” tends to evoke anxiety in our minds; typically, one is not at risk for good outcomes, like winning a large lottery prize. It also implies a value judgment on the condition being screened for. Many people would argue that deafness or autism are desirable or normal outcomes, not something that one is at risk for. Alternatives include “polygenic score” or “polygenic index.” I like my own coinage – “polygenic screen” – when referring specifically to polygenic risk scores for medical conditions in healthy people since it implies the test is not diagnostic (yes, I know, people tend to confuse diagnostic tests with screening tests à la NIPT). In this posting, I use all these terms more or less interchangeably because, well, I can’t make up my mind which I prefer.
In order to distinguish between the various applications of polygenic scores, consider these suggestions for a possible terminology:
Polygenic Index – when used to predict a non-medical trait, such as height or intelligence.
Polygenic Screen – when applied to population screening for common medical conditions.
Polygenic Risk Score – when applied to a population previously identified as being at high risk for, or affected by, a medical condition, such as breast cancer, to potentially guide treatment, risk reduction, and surveillance recommendations.
To distinguish between a polygenic only model and a model that combines SNP analysis with clinical and demographic factors, a “+” could be added, e.g., Polygenic Screen+– Breast Cancer to denote a breast cancer risk prediction model that incorporates SNP analysis with the Tyrer-Cuzick or other breast cancer risk prediction model.
The collective memory of eugenics is that it was an ideology of archconservatives that thrived during the first half of the 20th century and whose demise was hastened by the horrors of Nazi Germany. We like to think that we now know better. Better science, better morals, better guiding ethical principles. Heck, we must even be better people. It may be a comforting story, but historians of science have been pointing out for decades that this collective memory is flawed. Eugenic ideologies and policies, usually under different labels and in various forms, can be found today in science, medicine, and social policies.
Strands of eugenic beliefs also became embedded into popular culture. For example, as historian of science Paul Lombardo has demonstrated, references to eugenics could be found in the advertisements of popular magazines and newspapers in the first half of the 20th century, suggesting that the average American was familiar enough with eugenics that the term needed no explanation. For marketing purposes, eugenics implied excellent consumer products such as diamonds, hair styles, and hair shoes, in much the same way that many companies today will state that the quality of its products or the company’s dedication to customer service is part of the company’s DNA. There are many other examples of eugenic themes in 20th and 21st century novels, films, comics, and video games.
Along these lines, I recently came across two Walt Disney cartoons that echo eugenic themes. I couldn’t believe it at first. I thought maybe it was just my hyperactive eugenics paranoia kicking in and deluding me. After all, I tend to see eugenic monsters lurking under my bed at night. But the more I studied the cartoons, the more convinced I became.
Disclaimer: I have no reason to believe that Walt Disney himself was a dyed-in-the-wool eugenicist or that the Walt Disney Company is a front for a nefarious eugenics media empire. Rather, these cartoons illustrate how eugenic ideology was so pervasive that it subtly and not so subtly became woven into the fabric of American popular culture. It could appear in a cartoon without the creators having a single eugenic bone in their body. Or it could manifest under a different name, so disguised that a cartoonist might not recognize it for what it was.
The first cartoon, Goofy’s Adventure Story from 1954, tells the story of the family history of the Disney character Goofy. Goofy is an anthropomorphized dog who first appeared in 1932 – the heyday of classic eugenics – as the character Dippy Dawg. The cartoon includes a family tree in reverse order of tree growth, i.e., with the ancestral Caveman Goofy at its apex and 1950s Goofy at its base (which, curiously, is how family trees were typically drawn until about the 15th century). Descending between the two is a lineage of historical Goofy characters. Each ancestor is basically a stereotypical White European (for the moment, ignoring Goofy’s canine heritage*). In the cartoon, each character does something, well, goofy, in keeping with the character’s namesake trait. Goofy appears to be part of a patrilineal society since there are no female ancestors on the tree.
The family tree was a powerful symbol for eugenicists, who recognized the value of graphics in getting their point across. The many pedigrees of “feeble-minded” families produced by eugenicists were used to “prove” that intelligence was inherited in Mendelian fashion and that the people at the lower end of the intelligence spectrum were breeding at such incredible rates that the very existence of society was threatened by their reproductive drive, low intelligence, and propensity to crime and poverty. The pedigrees of “feeble-minded” families – typically poor and from “degenerate races” – reflected the race and class biases of eugenicists, who were primarily economically well-off Northern and Western White men.
Goofy’s family tree is a variation on these eugenic pedigrees. Goofy’s tree is peopled with Noble White Man tropes so beloved by eugenicists, such as Roman emperors, Greek warriors, knights in armor, and Pilgrims. In keeping with Goofy’s nature, these figures are presented in comic form. But the comic form gets at the essence of the connection to eugenics. Think about it for a moment – the name Goofy is synonymous with “feeble-minded,” a connection reinforced by his signature “Hyuk, Hyuk” laugh and two widely-separated upper teeth (which don’t look like canines to see). Disney, of course, wasn’t trying to revive classic eugenics. Rather, Goofy’s pedigree illustrates how the eugenic notion that intelligence was inherited and ran for generations within families was so engrained into the public consciousness that, even without thinking about eugenics. it was natural to create a “feeble-minded” cartoon character who has a family tree full of “feeble-mindedness.” Goofy’s family history is a modified and cartoonized version of the pedigrees of the Jukes, the Kallikaks, the Hill Folk, the Mongrel Virginians, the Pineys, the Nam Family, and the many other “degenerate” families described by eugenicists.
A rendering of the Kallikak Family tree from a 1950s psychology text (contemporaneous with Goofy’s family tree), based on the 1912 book “The Kallikak Family: A Study in the Heredity of Feeblemindedness” by Henry Goddard.https://en.wikipedia.org/wiki/The_Kallikak_Family
The Goofy family tree also includes an odd appendage, one that I have decided to believe is unintentionally inappropriate and reflective of what was considered acceptable at the time rather than a, uh, racist dog whistle. Dangling from the lowest branch on the left is a noose. I am not exactly sure what a noose is doing here although I guess it’s somehow connected to Wyatt Earp Goofy, who appears to be nailing a Wanted poster to a tree. Not that I expect a cartoon to be historically accurate, but Earp is not particularly associated with hangings, and in fact helped disperse a mob that was intent on hanging a man accused of murder. The noose, of course, is an image used by White supremacist racists to try to strike fear in the hearts of Black people in America. Along these lines, in the cartoon Wild Bill Goofy shoots a Native American in a manner that’s somehow supposed to be humorous, and the appearances of Native Americans and South Seas “cannibals” are depicted stereotypically.
In another weird twist, the country the Goofy Family Tree appeared on a postal stamp issued by Uganda in 1992, celebrating the 60th anniversary of the creation of the Goofy character (Disney characters were licensed for use on postage stamps in many countries).
In the other eugenic-themed Disney cartoon, titled Family Planning, Donald Duck helps a disembodied narrator explain family planning. The cartoon does not detail the specific methods of family planning other than “taking pills” and “using simple devices.” Just as well, I guess. I for one was not interested in Donald Duck demonstrating how to use a condom or Donald and Daisy practicing the rhythm method.
Some of the Population Council’s early presidents had strong ties to pre-World War II eugenics, most notably Frederick Osborn. Osborn helped create the journal Eugenics Quarterly, was a founding member of the American Eugenics Society and a member of Britain’s Eugenics Society, and once characterized Nazi eugenics as “an important experiment.” After WWII, he apparently had a fall-off-his-ass experience and began portraying himself as a severe critic of classic eugenicists such as his uncle Henry Fairfield Osborn. He shifted his focus to positive eugenics (i.e., encouraging the “right” people to breed and encouraging the “wrong” people to voluntarily curb reproduction) and acknowledged the role that environment played in an individual’s development and lot in life, what might euphemistically be called a kindler, gentler eugenics.
Despite Osborn’s claim to the contrary, these two quotes from 1965 and 1963, respectively, demonstrate that he had not fully shed some of his hard core eugenic beliefs:
…the average genetic character of parents of unwanted children is likely in the long run to be below average. An unusual proportion of these unwanted children grow up to be juvenile delinquents, unemployed, or social charges.
Every racial group has a certain proportion of genes for high ability…. It appears that ever since World War II, Negroes as a group have been increasing in numbers more rapidly than the Whites, with a probable trend during this period towards producing relatively fewer able individuals. This is the kind of dysgenic situation which eugenics aims to ready.
Osborn was no longer president when the cartoon was produced and as far as I know did not play a role in developing it. But his eugenic philosophy strongly influenced the organization’s policies during the 1960s. It’s this Osbornian view of humanity that guides the message of the Disney cartoon.
The cartoon’s central character is a peasant farmer with a skin tone a shade or two darker than white and who speaks English with what sounds to me like a Central American accent. When the family has only 3 children, the farmer is able to provide for his family – enough food, schooling, and a few simple possessions such as a radio. But, according to the cartoon, if the family goes on to have 4 more children, the farmer will no longer be able to provide enough food or otherwise meet the basic needs of his family. The parents become so tired they can barely care for their children, who grow weak and sickly. When the sons grow up, the small family plot will have to be divided among them, restricting their ability to care for their families. Heaven forbid, should the family move to the city they will be even worse off because they can’t afford to live there. The narrator’s solution is for the peasant to practice family planning so that reproduction is not “left to chance” and “you can only have the children you want.”
Eugenic themes were not confined to cartoons. They can be found in other areas of popular culture from that era and even up to today. The Beverly Hillbillies (“a poor mountaineer who barely kept his family fed”) are the cultural descendants of Charles Davenport’s Hill Folk. As are the inhabitants of the hills of northern Georgia in James Dickey’s novel Deliverance (“Nobody worth a damn could ever came from this place.”) who terrorized the rich urban men seeking to display their manhood by spending a weekend rafting a wild river. Or, from a previous generation, the immigrant-hating horror novelist H.P. Lovecraft who wrote of unimaginable alien horrors lurking in the hills of New England (“West of Arkham the hills rise wild… When I went into the hills they told me the place was evil.”). In a clever thematic manipulation, the current TV series Lovecraft Country features Black characters facing the monsters of White racism across America’s 1950s South.
The current spate of zombie movies, novels, and television shows can be read as eugenic, with their mutated throngs of human monsters threatening the existence of Western civilization. Perhaps it’s no coincidence that the popularity of the zombie genre is blossoming during a time of anti-immigrant sentiment in Europe, America, and other places. Eugenics has an uncanny ability to morph and adapt to different times and different cultural milieus. And, like zombies, it refuses to die.
– Someone really should perform whole genome sequencing on Goofy and Pluto to finally resolve the long-standing debate about the differences between the two, Goofy being a canine who is bipedal, language fluent, and a friend of Mickey Mouse whereas Pluto is a quadrupedal canine, incapable of speaking, and is Mickey’s pet. Surely the difference lies in their genomes.
At the recent NSGC Annual Conference, Carla McGruder chaired a sparkling plenary session titled “Say My Name, Say My Name”during which panelists debated the pros and cons of the professional title Genetic Counselor (there was widespread disappointment that Beyoncé did not make a guest appearance). The general sense I got from the debate was that there was enthusiasm for a name change and that a new professional title may ultimately prove to be destiny’s child, but for now no one offered a particularly winning alternative (see below word cloud from the session). Perhaps unsurprisingly, nobody brought up my two biggest long-standing concerns about the genetic counselor title. One is that the oft-used abbreviation of GC for genetic counselor is also the abbreviation used for gonococcus bacteria (though then again it could also more appropriately suggest guanine and cytosine). My other concern is that we should more properly be called genetics counselors; genetic counselor without the “s” at the end of genetic makes it sound like being a counselor is a hereditary condition, the result of some likely pathologic variant. I am pretty sure, too, that lots of genetic counselors in Canada, the UK, Australia, and some other countries would prefer everyone spell it “genetic counsellor.”
Word Cloud for suggested alternative professional titles for genetic counselors, from “Say My Name, Say My Name” panel discussion at the NSGC’s 42nd Annual Conference in Chicago, October 20, 2023. Reproduced with kind permission of session chair Carla McGruder, MS, CGC.
Debate about what to call ourselves has surfaced with some regularity since the profession was birthed a half-century ago at Sarah Lawrence College, and in a journal article by Jehannine Austin and their group at the University of British Columbia, as well as being the subject of two prior DNA Exchange postings, one by my DNA Exchange colleague Allie Janson Hazell and one by me. I suspect that currently the name debate is driven by the profession’s expansion into so many new employment niches, many of which do not involve direct patient care. It may also be influenced by the increasing trend of the profession defining itself – and being defined by other health professionals – in relation to genetic testing.
Let me state my biases up front. I am opposed to a name change, at least until you can show me something better that will justify the very extensive, expensive, and intensive efforts of introducing a new name and eliminating an old one. Of course, my biases are partially driven by being an Old School GC, having graduated in the Late Neolithic Period of genetic counseling, back in 1983. There’s always the attitude of “Damn it, the way I was taught is the right way.” And even if someone comes up with a better job title, I will still likely go to my grave calling myself a genetic counselor. But my personal hang-ups and emotional reactions aside, let’s take a look at some of the pro arguments and why I think they fall short.
One of the pro arguments for a name change centers on lack of public awareness of just what a genetic counselor is or does. Yeah don’t we all know that one! I can’t disagree with this point. But changing our name will not in and of itself improve public awareness or visibility. The alternative names are equally or more ambiguous. Patients will probably react with uncertainty to titles that include the likes of analyst or consultant or specialist (to name just three) and it will do nothing to clarify how we might help and serve them.
While acknowledging the general lack of public knowledge about genetic counselors, we have nonetheless made remarkable progress in increasing awareness of the job title, both with patients and healthcare providers. The below Google Ngram, with all of its limitations, gives a rough idea of how much awareness of genetic counselors has increased since Sheldon Reed christened us in the 1940s, with the ambiguous but reasonably accurate definition of “a kind of genetic social work.” A lot of that progress can get lost if you eliminate the genetic counselor title.
If you really want to improve public awareness, you have to think beyond name changes and PR campaigns. Look at what the Dr. Jennifer Melfi character in The Sopranos did for publicity for therapists. What we need is a successful streaming series about genetic counselors, complete with gratuitous sex and nudity (we can hold off on the violence; there’s more than enough of that to go around in the world these days). I can picture the genetic counseling show’s log line: “Family Lines” – Follow the professional challenges, joys, tragedies, and dilemmas as well as the complicated personal lives of young, attractive, ethnically and gender-diverse genetic counselors as they graduate from their training programs and experience the impact of genetic conditions on their patient’s lives and families as well as on the counselors’ own psyches. Starring George Clooney as the dashing veteran Robert “Bob” Resta whose efforts to guide this gaggle of counselors throughout their careers are undermined by his own very human failings.Consider running the credits over a background of a pedigree being drawn to highlight the commonly used genetic counseling tool and to evoke the name of the show.
Proponents of a name change quite rightly claim that the term “counselor” doesn’t reflect what many genetic counselors actually do in their day-to-day work. Genetic Counselor does not capture the essence of a Variant Analyst, Professional Support Specialist, Product Development Manager, Program Administrator, Researcher, or Medical Science Liaison. But, according to the 2023 NSGC Professional Status Survey, 71% of genetic counselors are involved with full or part-time direct patient care. This suggests that a significant majority of us are actively engaged in genetic counseling on a regular basis, so it makes sense to call us genetic counselors.
Besides, the proposed alternatives capture an even smaller range of what genetic counselors do for a living or otherwise sell our skill set short. For example, one of the suggested alternatives is something along the lines of Genetic or Genomic Information Specialist. It strikes me that the word “Information” misses a critical insight into the human psyche. It isn’t so much the information that’s communicated that is key as it is the way that each person’s mind uniquely interprets that information and integrates it into their lives. this is where counseling skills come in, which, for my money, is what sets the profession apart and makes it uniquely valuable. It gives us a professional identity unlike any other genetics profession or specialty. The value of counseling and communication skills is acknowledged by many genetic counselors employed in non-direct patient care positions, who often claim that their counseling and communication skills have been key in enabling them to expand into their new roles. They are still using basic genetic counseling skills, just in a different context.
Furthermore, I would argue that the very ambiguity inherent in the genetic counseling title is what has allowed us to grow our professional roles. Other professional titles might not provide the flexibility to expand into new and exciting roles. If employers are not exactly sure of what we do, it allows us create new roles that other providers don’t have the knowledge base or skill set to match. As Ed Kloza – who has pretty much witnessed the entire history of the profession first hand – sagely pointed out at the microphone at the “Say My Name, Say My Name” session, the title genetic counselor has gotten us pretty far professionally since the 1970s. Just how has it limited us?
A decidedly practical drawback to changing our professional title lies in the bureaucratic underpinnings necessary to maintain the life of a profession. It’s not just a name that can simply be eliminated by a search-and-replace function. The title Genetic Counselor is written into state licensure laws, pending federal legislation to make genetic counselors recognized Medicare providers in the US, and other countries’ equivalents of licensure. To say nothing of changing job titles by every employer of genetic counselors, the names of a half dozen or so professional organizations, a journal title, and a PubMed search term, to name a few. This could potentially be achieved but you need a very, very compelling reason to expend all that energy, time, and money doing so.
It will be interesting to see what what happens with the job title in countries where the genetic counseling profession is just establishing itself – such as India, the Philippines, and the Middle East. Local circumstances, medical practice, and cultural preferences may wind up generating some very different names and professional practices. But I suspect that they may also want to stick with the genetic counselor title to capitalize on the remarkable progress the profession has made in the US, the UK, Canada, Australia, and elsewhere. The practice and profession may look a bit different around the globe, but they will still be recognizable as genetic counselors and not as something else.
Perhaps too, it is time to reconsider the 2006 standard definition of genetic counseling. While I happen to be a champion of that definition, my professional conflict of interest is that I helped craft it. The current generation of genetic counselors should not necessarily have to rely on a definition created by a previous generation if it no longer captures the essence of genetic counseling. This could have bearing on whether we should choose a new professional title.
For now, though, Genetic Counselor may be a less than perfect name but it is closer to perfect than the proposed alternatives. Give me powerful reasons to think otherwise, and I will change my mind. Until then – Change my name? Nah.
What is the economic worth of one person’s life? That question was raised yet again in a recent paper on expanded carrier screening (ECS) that justified an expanded carrier panel based on the cost-savings garnered by avoiding the birth of people with any of 300 mendelian disorders. A quick and likely incomplete literature search revealed other similar publications from around the globe (Azimi et al., 2016; Beauchamp et al., 2018; Busnelli et al. 2022; Clarke, 2021; Wang et al., 2022). NSGC’s Expanded Carrier Screening Guidelines also point to economic gains as one of the benefits of carrier screening. Other professional guidelines and research papers do not discuss the economic benefits of expanded carrier screening, though read carefully, the disability avoidance/cost savings theme is often an undercurrent. To me, economic justifications for ECS raise serious concerns.
The quantification of saved costs over time will help to critically examine the medical necessity of ECS as a proactive health screening strategy. – NSGC Expanded Carrier Screening Guidelines,2023
To be clear, I don’t object to carrier screening per se and a “pan-ethnic” panel can make more sense than an ethnic-focused panel. All patients deserve the right to make complicated and highly situated reproductive decisions and access to genetic testing should be fair and equitable, points which most professional guidelines agree on. My concerns arise from the purported economic benefits of ECS through disability avoidance (I, along with Katie Stoll, have some other concerns about ECS besides economic cost benefit analysis).
But first some historical context.
During medical genetics formative decades in the mid-20th century, the concept of cost-savings by preventing the birth of people with genetic conditions was baked into the field, using ingredients leftover from eugenics. Many leading geneticists at the time preached about the economic and other costs to society of genetic mutations (and by extension, the worth of people who carry such pathologic gene variants), and how it was important to eliminate these pathologic variants to save society money and to preserve the future of humanity itself. While post-World War II geneticists typically disavowed old school eugenics, many of their concerns continued to echo the field’s eugenic origins.
Let me illustrate this history with a notable example. In 1954, the National Academy of Sciences formed a group called The Committees on The Biological Effects of Atomic Radiation (often called The BEAR Committee), six separate committees that were charged with reviewing the available data on the range of biological effects of atomic radiation. A 1960 report from this group detailed the findings from the Committee on Genetic Effects of Atomic Radiation. The genetics committee was comprised of some of the leading brilliant geneticists of the day – George Beadle, Bentley Glass, James Crow, Theodosius Dobzhansky, Herman Muller, James Neel, and Sewall Wright, to name a few. Sewall Wright, in his chapter in the report “On the Appraisal of Genetic Effects of Radiation in Man,” divides humanity into 13 groups, based on intellectual, behavioral, and physical traits. Wright then decides the degree to which each category’s contribution to society is greater or lesser than its cost (as far as I can tell, based on Wright’s opinion and zero data). Some examples of these categories give an idea of their flavor:
1. In the first category, which includes the buIk of the population, there is an approximate balance between contribution and cost, but both at relatively modestlevels.
4. In this category are those who cost society much in term of education and standard of living but who contribute much more than the average at their level of cost.
6. We may put here individuals of normal physical and mental capacity whose cost to society outweighs their contribution because of the antisocial character of their efforts: charlatans, political demagogs, criminals, etc.
8. Low mentaIity but not complete helplessness.
10. Mental breakdown after maturity, especially from one of the major psychoses.
Sewall Wright, great statistician that he was, then graphed out these categories in this figure:
People in categories above the dashed midline contributed more to society than they cost, for people in categories close to the midline their cost/benefit was a wash, and people below the midline cost more than they contributed. In Wright’s view (and presumably the view of most of the genetics committee), anybody in Categories 7 or below cost more to society than they were worth. Oddly, those in Categories 5 and 6, were “acceptable” to Wright, even though their cost to society were greater than their contributions. He may have had a soft spot for playboy types, charlatans, and criminals, although he was also unsure of the genetic contribution to these traits .
Wright’s graph did not go unnoticed. Victor McKusick, whose obituary called him “The Father of Medical Genetics,” reproduced Wright’s graph in his 1964 short book Human Genetics, one of the earliest modern medical genetics texts. On page 141 of McKusick’s text, he goes on to say “No one would dispute the desirability and scientific soundness of encouraging reproduction of intelligent persons who are an asset to society.” And it didn’t end there. Cost effectiveness studies continued to be raised to justify the introduction of heterozygote carrier screening and amniocentesis in the 1970s and beyond.
From an ethical perspective, I find it appalling that the cost-savings to society is hailed as a benefit of expanded carrier screening. Do we really measure the worth of a human life by how much money they contribute or cost to society? Isn’t that whatpeople with disabilities, their supporters, their families, and disability scholars have been screaming at us for like a million years? Are we that tone deaf that we can’t hear their shouting? Are we just pretending to hear them or are we simply ignoring them? Isn’t a human being’s worth measured by non-economic factors? Who’s to say whose life is more worthwhile than others or how it should be measured? Why is it that people born with a genetic condition are less valued than people who develop disorders after birth that are even more economically burdensome, like dementia, lung cancer, diabetes, and heart disease (the risks for many of which can be reduced by low cost interventions like improving diet and exercise, and avoiding tobacco and excessive alcohol intake)?
Cost-savings justifications are also incompatible with Diversity, Equity, Inclusiveness, and Justice (DEIJ) initiatives. Money-saving justifications imply that if you are born with a genetic condition and cost society too much money, we are not going to include you. The message is that we support DEIJ for the “right” kind of people, those whose genomes and phenotypes aren’t too costly.
From a technical standpoint, many cost-effectiveness studies suffer from some serious flaws. For example, the Beauchamp et al. paper mentioned above includes 176 conditions in their analysis. Realistically, and which the authors acknowledge, there is no way to obtain reliable lifetime costs of all 176 conditions, given the rarity and variable prognosis of most of them. Also, the greatest economic cost benefit comes from the conditions associated with increased likelihood of survival to adulthood and the attendant need for ongoing care, such as Fabry disease, cystic fibrosis, the hemoglobin disorders, and Wilson disease. Adding on dozens and dozens of other uncommon conditions, often associated with early death, does not add much to the economic savings (a point also made in the paper by Azimi et al., cited above).
Cost-savings studies also often make the erroneous assumption that people who have a genetic condition make little or no economic contributions to society. Tell that to all the hard-working adults with Fabry disease, cystic fibrosis, deafness, hemoglobinopathies, etc. Not to mention the many non-economic benefits that any individual – regardless of their genome or phenotype – may “contribute” to society, such as joy, love, friendship, community, artistic creativity, etc.
But you might argue that health resources are limited and saving billions of dollars can’t be ignored, whatever the exact amount. That saved money could go to treating people with genetic conditions. Well, first off, there is no reason to believe that such abstractly saved money would be funneled directly into the care of patients with genetic conditions, or for that matter back into the health care system itself. The theoretically saved money could just as easily wind up funding some legislator’s pet project.
Furthermore, the savings are not quite as impressive as they sound. For arguments sake, let’s accept the estimates of Beauchamp et al. that on average each condition incurs a lifetime cost of $1.1 million (US) and that 290 of every 100,000 pregnancies are affected by one or more of these 176 conditions. Assuming about 3.6 million births in the US each year, that would result in 10,440 children with one of the screened conditions. At a lifetime cost of $1.1 million each, that adds up to ~$11.5 billion in savings over their lifespan (I am making a “best” case but unrealistic assumption that all at risk couples are identified and all affected births are avoided by preimplantation genetic testing, prenatal testing and termination, avoiding reproduction, gamete donation, etc. Cost-effectiveness studies of course don’t make such unrealistic assumptions).
On the other hand, the annual (not lifetime) spending on all health care in the US is $4.3 trillion, per the Center for Medicare & Medicaid Services. The lifetime costs of caring for people with the conditions included in an expanded carrier screening panel is barely a rounding error in annual health care spending in the US. Is the purported savings benefits of expanded carrier screening worth a rounding error, in light of its ethical shortcomings?
Figures 2a and 2b from the Beauchamp et al. reference cited above, illustrating the cost-effectiveness of different carrier screening strategies. Note how the graphs visually evoke the Sewall Wright graph above.
Another justification offered for ECS is the claim that money is saved by shortening the diagnostic odyssey and thus reducing visits to specialists and avoiding unnecessary and inappropriate treatment and testing. Certainly shortening the diagnostic odyssey is a laudable and important goal. However, cost calculations based on that claim are likely to be flawed. We don’t know how many babies born with the screened conditions would experience a diagnostic odyssey, how long the odyssey would take for each condition, and how much unnecessary spending would have been avoided. Nor do we really understand how many children undergo the diagnostic odyssey overall or what percentage of these journeys might be avoided by expanded carrier screening. Besides, the diagnostic odyssey could be more effectively shortened – though by no means eliminated – by expanding newborn screening and/or improving the availability of, and access to, whole genome sequencing, which would allow diagnosis of a much broader range of conditions than those included on carrier screening panels.
A potential and subtle danger of emphasizing the economic benefit of ECS lies in the absurd economics of healthcare that results in the high cost of new and innovative ways of treating genetic disease based on the underlying pathologic variant. Delandistrogene moxeparvovec-rokl (Elevidys), an anti-sense oligonucleotide (ASO) for approved by FDA in June for treating Duchenne muscular dystrophy patients with certain dystrophin variants, is priced at $3.2 million (US). As pointed out by Dan Meadows in this space a few weeks ago, the cost of nusinersen (Spinraza), another ASO, to treat some forms of spinal muscular atrophy, is estimated to cost ~$750,000 (US) the first year and $375,000 per year thereafter. Such high costs of treatment further bolster the belief that treating genetic disease is too costly. Paradoxically, just as at least partially successful treatments are finally becoming available for some genetic conditions, there may be a move to further prevent more births of people with certain genetic conditions in order to save money.
It’s tempting to equate cost-savings with eugenics. However, I think the eugenics label adds nothing to the discussion, other than being an accusation that turns the discussion into an argument. Whether or not it’s eugenic depends on how you define eugenics, and there is no widely agreed on definition. I think it is inaccurate to broadly label medical genetics and genetic counseling as modern day eugenics. Nonetheless, arguments for cost savings and disability prevention betrays the field’s eugenic roots and how we have not fully come to grips with our history. The graphs and table displayed in this post are not exactly the same, but they do share a pedigree. With each generation, the graphs and tables change to reflect their times, but the underlying message remains constant.
Medical geneticists and genetic counselors are not an unethical bunch. In fact, I have always been impressed with how much we struggle with complex ethical issues on a daily basis. But our vision can be subtly influenced by our history and by the fact that many – probably most – clinical and laboratory positions rely on the availability of genetic testing. We try to so hard to be good but sometimes it blinds us to the bad we might do. As Devin Shuman so elegantly reminded us in this space last week, the good intentions of our ableist assumptions can do a lot of harm. It’s about time we shed the ethical baggage of economic savings based on avoiding the birth of people with disabilities.
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 11th 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 11th 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 15th 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.
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)
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 12th 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.
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 19th century, and extending well into the 20th 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 7th and early 8th 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).
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).
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.
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.
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.
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.
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.
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, from Wikipedia.
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 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.
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)
Alice Lee, statistician, shrinker of male brains and male egos. (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.
*- 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.”
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 20th 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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