Everyone has an opinion about AI. It’s a godsend. The spawn of Satan. The end of the world as we know it. The start of a whole new world. Just another way for the tech industry to suck blood and money out of the 99.9% to feed their bizarre dreams of immortality and eugenic perfection. A savior of humanity. The future. A dead end. A copyright infringer. As the saying goes, opinions are like butts. Everybody’s got one and everybody thinks their’s is the most important.
I have no particular expertise in AI; mostly I worry about abuse. I am not a heavy user. While there are undoubtedly excellent applications for it, I have found that for deep scholarly research, it is mediocre at best and downright misleading at worst. A recent, uh, shall we say, surprising AI result that popped up during my research illustrates this point.
I have been reading, studying, and researching eugenics since 1980 when a fire was lit in my belly after taking couple of graduate courses in the history of biology with Gar Allen, the sadly missed and great historian of science. Since then, I have followed many threads in the historical tapestry of eugenics. Currently I am reading American Eugenics, Nancy Ordover’s book about queer anatomy and eugenics. The author details some of the terrible and cruel surgeries performed on non-heterosexual people in hopes of “curing” them of their “deviant behavior” (Personally, I think the animosity that many heterosexuals express toward non-heterosexual behavior stems from their anxiety that if they engaged in non-heterosexual behavior they may actually enjoy it).
One such surgery was clitoral hood reduction or removal, purported to reduce sexual desire. This was a not uncommon practice in many countries, and nowadays many consider it a form of genital mutilation, even if some label it as vaginal aesthetic surgery (Hmm). I wanted to learn more about this surgery and, as a first step, started by entering the term “clitoral hood” into the Google search bar. Nowadays, Google searches automatically include an AI summary at the top of the results, unless you figure out how to turn off the feature. I keep it turned on, mostly just to keep an eye on how accurate or inaccurate the results can be.
You can imagine my surprise when the following result popped up:
Apparently, AI does not understand clitoral anatomy and function. In that sense, it displays a human trait, one particularly common among male humans.
This faux pas highlights some of the shortcomings of AI. Anyone who has written a densely footnoted manuscript with lots of embedded links knows that mistakes happen and humans are perfectly unfit to achieve an error free manuscript (maybe even including this blogpost). But AI should be perfectly fit to achieve this type of repetitious, highly detailed task. It’s not really a so-called hallucination; it seems to be just a plain old mistake. But it’s a mistake that human eyes would detect immediately. AI, on the other hand, detected it but did not realize that it was a mistake. It didn’t make the distinction between sense and nonsense.
I ran it several times yesterday to make sure it wasn’t a one off, and got the same result. Though when I ran it again today, the Cleveland Clinic* seems to no longer protect clitorises. Which reveals another weakness of AI. Depending on the day of the week and the whim of The Indifferent Internet Deity, you can get a very different result. Maybe Anthropic or Claude or whatever model would give a different result, which is another problem in reliability. Which model can you trust to get the story right?
Maybe society will reject AI, though I don’t think that’s realistic on a large scale. It definitely needs ongoing strict regulation and assessment, and maybe one day we will overall glean more good than harm from it. But from my corner of scholarly research, my take is don’t depend on it to do your work. Besides, all the fun and creativity in research comes from taking a deep and tortuous dive into a research question. You can’t see the forest until you have examined the trees in detail.
– I have not been in touch with the Cleveland Clinic to ask them about how they manage to protect any clitoris under their roof. I hope it does not rub them the wrong way.
Memories are like a train/You can see them getting smaller as they pull away – from “Time” by Tom Waits.
Several decades ago I counseled a couple whose amniocentesis results revealed a balanced Robertsonian translocation. The product of that pregnancy, now an adult, recently had an appointment with a genetic counselor to discuss the reproductive implications of the translocation. The counselor was impressed that the individual was still aware of being a translocation carrier after all these years. The patient smiled and pointed out their middle name – Robertson! The parents chose this middle name so the patient would always be aware of their karyotype. Pretty clever, no? This was the parents’ idea, though it sounds like something I could have half-jestingly suggested. The patient said their mother remembered the counselor’s name was Robert but the patient thought their mother was confusing the counselor’s name with the translocation. The counselor verified the accuracy of Mom’s recollection, saying “Oh no, he was real.”
This got me to thinking about prenatal and newborn screening results that do not have clinical implications until adulthood or in the context of reproductive decisions. Even if you are a cranky old man like me and do not support testing children for conditions that do not have implications until adulthood, there are some situations where it is unavoidable. Amniocentesis or CVS performed for a recessive disorder would be expected to find that 50% of at risk pregnancies will prove to be carriers of a single pathogenic variant and who are typically unaffected (recognizing that for some conditions this may result in clinical manifestations). Newborn screening programs that include hemoglobin disorders such as sickle cell anemia and thalassemia and any genomics-based newborn screening program intended to detect affected children will also incidentally detect carriers. And some parents who participate in expanded newborn screening programs have expressed a desire to know about their child’s risk of adult onset conditions such as cancer.
This situation can arise in other contexts too. When carrier screening reveals only one parent is a carrier of a recessive condition, prenatal diagnosis will not likely be performed for the condition. But their children have a 50% chance of having inherited the pathogenic variant.
A vital and eminently practical question not often addressed is: Will the offspring be aware of those results by the time they are relevant in adulthood? Naming kids Robertson is a solution for only a tiny niche of patients. Maybe some kids could be named Lynch. But I can’t imagine a generation of kids named BRCA2 6174 delT, CFTR ΔF508, or HBA1/2 α-/α-. Well, Elon Musk might consider it for his kids but, unabashed eugenicist that he is, it’s hard to believe he would participate in conceiving such a child. And Linus Pauling’s bizarre recommendation that carriers of genetic conditions have their foreheads tattooed to indicate their carrier status is beyond Gattaca.
More seriously, sure some parents will dutifully ensure that their children stay aware of this information. But for the most part that may not happen until the children are older, assuming that they will even want to know their results. Lots of things can happen between now and then. Parents may ultimately decide not to tell their children – who knows what eugenic laws, social values, and insurance discrimination practices lie in our future? The information may get garbled in the re-telling after all that time. Parents may die before they have the opportunity to discuss the results with their children. Families fall apart or simply lose touch with one another. And you know what? Lots of people go through life not really caring what their genome says, as shocking as that may be to some genetic counselors.
There will of course be a formal record of the results but hard copy, such as a printed report or letter, has, without extreme vigilance, a high chance of getting lost or forgotten in the chaotic dance of life. Any digital platform is unlikely to be readable several decades in the future (Anybody out there have a slide projector I could use for my old slides or a computer that reads floppy disks or an IBM punch card reader where the data for my master’s thesis was recorded?).
Labs may shutter, which could make it more difficult to access test results. Maybe the world will be such a mess from the impact of climate change that genetic test results will be one of the least things to worry about in life. It might be a losing bet but I would wager that the vast majority of genetic test results that don’t have immediate or short term implications for the child will fade away before they can ever be communicated or acted on.
Perhaps in the future every adult will undergo whatever current state-of-the-art genetic screening is available, which could obviate the need for keeping the older test results at front of mind (in a step in that direction, the United Arab Emirates requires carrier screening for over 800 conditions as a prerequisite for marriage). But I don’t really believe that is going to happen among large swaths of the population, despite genetic counselors being “passionate about bringing genetic testing to everyone” or the sales hype that genetic testing needs to be “democratized.” In fact, in the face of potential genetic discrimination, universal genomic screening could wind up being very undemocratic. I could unfortunately easily imagine nightmare scenarios such as requiring immigrants to prove they are not carriers of a hereditary condition before being considered for citizenship or deporting those already residing here, justified by the age-old ploy of not burdening taxpayers with the cost of their healthcare. The US government is not alone in justifying its immigration policies by baselessly claiming that deporting immigrants is a net benefit for the economy. Besides, immigrants can already be deported for conviction of trivial infractions like marijuana possession; getting bum-rushed out of the country for having the “wrong” genomic test results might not be far behind.
I used to tell my patients that they should include the test results in their will to help ensure that the information stays available. But many people don’t have wills, and for those that do, by the time they die, the offspring may be old enough that genetic information may no longer have any clinical or reproductive relevance. Perhaps in countries with national and centralized health records this will prove to be less of an issue. But there too, as storage technology evolves, information will inevitably be lost. Or governments may decide to discontinue or curtail national health care programs as political priorities, national budgets, and social values change.
It would make for an intriguing long term longitudinal study to follow up on how often such communication occurs, what the most effective methods are, what impact it has on the lives of adult offspring, who winds up having access to that information, and how the information should be safeguarded, sort of a genetic version of the Add Health Study (aka The National Longitudinal Study of Adolescent to Adult Health).
I don’t know if there is really a good solution. I could be making something out of nothing, or perhaps there’s a solution I haven’t thought of. But it’s high time we started thinking about and debating these issues.
On a totally separate note, I am passing along this communication from NSGC to its members about proposed US Government rules that would dramatically and negatively affect grant funding:
“In May, the White House Office of Management and Budget (OMB) proposed a sweeping rule that would make significant changes to the federal grantmaking process across agencies. Through NSGC’s allied organization, Precision Medicine Coalition, NSGC submitted comments urging OMB to withdraw the rule, arguing it would increase administrative burden, undermine scientific peer review, destabilize research institutions, limit scientific exchange, and restrict international collaboration critical to personalized medicine innovation. In early August, the Senate passed a continuing resolution to fund the federal government through December 11, and included a prohibition on OMB finalizing that rule before December 11. If you would like to urge Congress to pass the legislation to delay the OMB rule, please use this action alert developed by ACMG – American College of Medical Genetics and Genomics: ACTION ALERT“
Don’t let those bastards get away wth this. Their moral corruption and incompetence knows no bottom.
Jon Weil was Director of the Program in Genetic Counseling, University of California Berkeley, from 1989 to 2001 and is the author of Psychosocial Genetic Counseling, Oxford University Press, 2000. He retired in 2001 but has remained professionally active. His current interests include the continuing development of psychosocial genetic counseling and promoting locally focused, patient-oriented international genetic counseling.
Robert Resta is a happily retired genetic counselor who has been a frequent contributor to the DNA Exchange since its inception in 2009.
Like a zombie, nondirective genetic counseling is a concept that refuses to die. It’s as old as genetic counseling itself and attempts to expose its shortcomings are just as old. But nondirectiveness refuses to go away. It keeps getting re-born in different guises – an antidote to eugenics or paradoxically a subtle form of eugenics, a variation on Dr. Carl Rogers’ patient-centered therapy, a philosophy underlying the educational model of genetic counseling, a natural corollary of patient autonomy, a basis for shared decision making, and a defense against engaging fully with the patient’s practical, emotional and medical needs and circumstances. Our impression is that in everyday practice most genetic counselors conceptualize nondirectiveness as some variation of “I shouldn’t tell the patient what to do,” even though there are times where you really should tell the patient what to do.
So, the whole point of therapy (not only for “borderline” patients but for all patients) is for the therapist to act as a container [bold in original]: they need to remain calm enough, and neutral enough in order to gracefully receive the projections, identify with them “just enough” so that they can understand them, contain them, then metabolize them, and then return them back to the patient in a more palatable and thinkable form. And this is a lot to ask of a person but that’s the job…
In the context of psychotherapy, the therapist and the therapy session endeavor to be a container – a safe, relatively neutral place for processing complex, emotionally charged, traumatic, or uncomfortable emotions, thoughts, or feelings. The therapist’s role is to nonjudgmentally absorb this psychic outpouring, help make emotional and cognitive sense of it, and then frame it and feed it back in a coherent and digestible form so the patient can have the wherewithal to cope with the issues at hand. This can help the psychological distress to be more effectively handled in the patient’s daily life outside the container.
In our view, this paradigm can be applied to genetic counseling, opening the conversation to some version of directiveness while maintaining respect for the primacy of the patient.
Here are some examples that illustrate how this might look in a genetic counseling session. In each scenario, the genetic counselor has carefully listened to the patient’s worries, anger, and anxiety, absorbed and framed them, and is providing feedback:
• You just told me that you are very worried about your ovarian cancer risk now that your BRCA1 test was positive and having had first-hand experience with ovarian cancer when you cared for your mother when she was dying of it. You are 50 years old. The strong medical recommendation in your situation, and one that I endorse, is that you should have your ovaries and fallopian tubes removed as soon as reasonably possible. Yet at the same time you are very reluctant to undergo the procedure, and you already canceled a surgical appointment. Let’s talk about why you canceled that appointment and what your fears and concerns about it are, beyond your immediate reason of having “a very busy schedule.” • From what you have been telling me, you are trying so hard to be a good parent and do your utmost to make sure your daughter is getting the best possible medical care. It also sounds like you have had less-than-ideal experiences with some medical professionals. But a whole genome test might give you and her care providers a better understanding of what is going on with your daughter – with her great smile that melts everyone’s hearts – and help guide her treatment. You have some very understandable concerns about the privacy of genetic testing when the analysis is performed by a large commercial lab. But the concrete advantages of the testing might outweigh the potential of violating her privacy at some point in the future. How do you weigh one against the other? • You have been reluctant to take your medication because you think that doctors don’t really know enough about the safety of it in pregnancy and you are in that developmentally sensitive period of early pregnancy. And you are right – we don’t have anywhere near as much data as we would like to have. But if your medical condition stays untreated, that would definitely pose a risk to the baby’s health and development. If you are not healthy, there’s a pretty good chance that will affect the baby in not good ways. This is a difficult decision but taking your medications I think ultimately is in the baby’s – and your – self-interest. How have you gone about making other decisions about how you care for yourself and your baby during this pregnancy?
But even with the best counseling skills, some patients make decisions that appear to be inconsistent with their own best interests, beliefs, or values. This does not necessarily represent a counseling failure. It can be very difficult to determine if a decision is “good” or “bad.” What looks like a good decision in the moment may in the long run prove to be a bad decision, and vice versa. Sometimes, too, patients are just not ready to make a decision and so they choose the easiest way out for the moment. And sometimes people just make bad decisions, accept the consequences, and move on with their lives.
Of course, no counselor is ever neutral. We are all embedded in personal, social, economic, historical, and cultural contexts that may be quite different than those of our patients. The result is that patients and genetic counselors can have very different frames of reference for perceiving and evaluating information. Those different frames of reference can color counseling sessions both overtly and subtly and throw a monkey wrench into the counseling works. But like Donald Winnicott’s concept of a Good Enough Parent, genetic counselors should strive to be neutral enough* to function as safe containers, whatever personal feelings they may harbor towards patients, their decisions, or their views. As Zavlis points out, this is no mean feat. It is all the more difficult to achieve in genetic counseling, which, for most patients, is a one or at most two-shot deal. It requires a healthy dose of personal and professional growth, along with a good understanding of the psychological meaning of patients’ words, choices, and actions. And it emphasizes the need for ongoing professional supervision and education throughout our careers.
Being appropriately directive in certain situations in genetic counseling demands wisdom, knowledge, self-awareness and a recognition of the ethical necessity to give our patients the full extent of our expertise. We may never vanquish the zombie. But we can move to a place from which to use our expertise fully – directional when appropriate without fear of being directive.
______________________________________________________________ * Yes, we recognize that “neutral enough” is more or less a contradiction in terms
In a recent thoughtful commentary in Genetics in Medicine and an ELSIhub Journal Club, Amicia Phillips, Maria Siermann, and colleagues critically examined the concept of actionability in the context of prenatal and newborn genomic screening. The authors conclude that actionability is poorly operationalized and call for “a need to develop a clear and nuanced understanding of actionability to ensure that screening policies are both ethical and effective.” I am not going to re-hash their ideas here, but some key considerations they raise include asking the questions Actionable how? Actionable when? Actionable for whom? Actionable at what level? I encourage you to read the article and view the ELSIhub Journal Club when the recording becomes available.
I have no insights or suggestions on how to develop a better understanding of actionability. I will leave that to folks smarter and more informed than me. But the article and webinar got me to thinking about the relationship between utility and actionability. Here I propose a model for thinking about these concepts and how they might be applied in genomic medicine. I recognize that both concepts are plagued by ambiguity. But for purposes of my model, utility is defined as the likelihood that a genomic/genetic test will, by prompting an intervention or other action, result in an improved outcome (a slight modification of the NCI definition). Going with the Phillips et al. paper, actionability is defined as “whether the information generated by screening leads to actions that may be undertaken” (to which I would add information generated by diagnostic testing too).
Utility typically includes two domains – Personal and Clinical Utility. In my model, I include a third domain that I call Public Health Utility. The types of actionability vary within each domain.
Personal Utility can be measured by the efficacy of actions that a person or family may take as a result of genomic/genetic testing that has the potential to improve their emotional, psychological, medical, and socioeconomic well-being. Using the recommendations of Kohler et al., these can be broadly categorized as affective, cognitive, behavioral, and social benefits. Some examples of actionability items include making reproductive decisions; choosing (or not) a medical course of action; joining a support group; accessing educational resources such as an appropriate educational plan for a child; applying for health and financial benefits such as Medicare and Social Security Disability Insurance in the US; participating in research about a specific genetic condition; and engaging in a psychotherapeutic relationship and other measures that can enhance emotional and psychological adaptation to a test result or genetic condition in the patient or within a family.
Clinical Utility can be assessed by the efficacy of actions that a clinician may take as a result of genomic/genetic testing that could improve the health outcomes of a particular patient or set of patients. These might include instituting specific screening modalities such as medical imaging as well as pharmaceutical, surgical, and other treatment and risk-reducing strategies, or suggesting alternative strategies. Actionability can also paradoxically include non-actions, such as discontinuing a treatment or recommending against a treatment or screening modality.
Public Health Utility can be assessed by the efficacy of actions taken by governmental and professional bodies based on genomic/genetic testing that may improve health outcomes on a population level. These actions might include allocating resources and finances, optimizing medical infrastructure, identifying research priorities, establishing clinical guidelines, and ensuring socially just and equitable access to genetic testing and subsequent recommended medical care and other health-related resources.
All three domains of utility feed into one another and are intertwined like a triple helix, so it can be difficult sometimes to separate them out. But the model* does provide a framework for evaluating utility and actionability. A test can be evaluated for its actionability in the different domains and weighed for the benefits and risks across domains. A test might provide little Clinical or Public Health Utility but still be justified if it provides significant Personal Utility. Or within a given domain, actionability may not provide enough utility to justify the test but if the benefit is moderate across all 3 domains the sum of the benefits may provide enough utility to justify the test. Or a test may have different actionability at different times of life and that too can be included in assessing utility.
Decisions about the utility of the actionability of genomic/genetic testing should be based on ethics, resource and financial availability, practicality, and statistical analysis, with input from patients, clinicians, the public, researchers, health policy analysts, and other stakeholders. Phillips et al. offer a much needed nudge in that direction. Of course, what counts as a benefit and how to weigh those benefits is no simple matter but that should not stop us from going through the process. Fear of imperfection should not be the enemy of the good.
Artificial Intelligence was not used to research or compose or edit this blogpost, nor was it used to generate the image.
_________________________________________________
Okay, let’s call it The Resta Model or The Resta Framework. Unless somebody else has already proposed this model and I didn’t realize it or it turns out be be a lousy model in the real world.
Things they do look awful c-c-cold/Why don’t you all f-fade away?/And don’t try to d-dig what we all s-s-say/Just talkin’ ’bout my g-g-generation – “My Generation” by Pete Townshend and The Who
The boast in the title of this piece is not aimed at the generation or two of genetic counselors who entered the field after I graduated from the UC Irvine genetic counseling program in 1983. Instead, it verbalizes the ethical conceit on the part of genetic counselors and medical geneticists in any given era that previous generations of geneticists always seem to have glaring ethical lapses. Yes sirree Bob, we learned our historical lessons from studying what they did wrong. We are good people with high ethical standards and would never say or do anything as bad as they did. Our moral compass is pointed to True Ethical North.
And so we create self-serving historical narratives that tell a tale of past sins and generational redemption.* Like Dante’s Divine Comedy, the genetic counseling narrative is a journey from Inferno (classical eugenics) to Purgatorio (post WW-II and the professionalization of medical genetics) to Paradiso (nowadays). Each step of the journey we strive to become better people and better genetic counselors, though the comedy may not be so divine. Think of me as your Virgil, and follow me on a journey through the history of genetic counseling and medical genetics.
Eugène Delacroix’s 1822 painting of Virgil guiding a fearful Dante across the River Styx, which is crowded with tortured souls at the entrance to Hell. As far as I am aware, there is no circle in Hell for geneticists. Yet. Source: https://en.wikipedia.org/wiki/The_Barque_of_Dante
Inferno
The scientific study of human genetics was conceived with the Original Sin of Eugenics on its soul (keeping up Dante’s religious imagery). For several decades into the 20th century, genetics and eugenics were more or less inseparable. Almost all major geneticists espoused eugenic ideology. And no, eugenics was not a pseudoscience; that is another conceit of the present passing judgment on the knowledge base of the past. In fact, eugenicists themselves dismissed its predictive forebear, phrenology, as a pseudoscience while heralding genetics as a true science of human traits and behavior. But to our 21st century perception, there is a slim difference between reading skulls and reading pedigrees.
A comparison of behavioral and personality traits studied by phrenologists and eugenicists.
Eugenicallly-minded geneticists were not stupid; many were brilliant scientists who had a very sophisticated understanding of genetics, the environment, and statistics, at least within the context of the times. Highly respected geneticists such as Karl Pearson, Herman Muller,Lancelot Hogben, Ronald A. Fisher, and Raymond Pearl criticized some of the less sophisticated eugenic applications of genetic knowledge but nonetheless remained staunch eugenicists. Heck, even Franz Boas, the anthropologist who is often cited as the ultimate anti-eugenicist, supported sterilization for reasons of “hereditary unfitness.” Boas, one of the most forceful critics of theories of racial superiority, also internalized some of the standard beliefs of the time about so-called primitive cultures. In 1897, he had the polar explorer Robert Peary essentially kidnap six Greenland Inuqhuit men, women, and children and bring them to the American Museum of Natural History in New York City so they could be studied as biological and anthropological specimens.**
I am not trying to justify eugenic ideology or programs or serve as an apologist. There were many different versions of eugenics that arose around the globe and over time (and continue to do so). Each version was bad, but often bad in its own way. Eugenics was pervasive and cut across all economic and ethnic segments of society. It was taught in high schools and colleges, it appeared in advertisements for consumer products, and newspaper stories. Support of eugenics wasn’t universal but it sure was widespread.
Advertisment for a Pittsburgh jewelry store from the early 20th century, courtesy of Paul Lombardo.
The biases and beliefs of earlhy 20th century geneticists reflected some of the major social issues of their day – large scale immigration from non-Western European countries of people thought to be morally, intellectually, and physically inferior; the growth and increasing visibility of urban poverty with increasing urbanization along side an extremely wealthy upper class; the supposedly low IQ and poor health of the millions of soldiers who enlisted or were drafted to fight in the First World War (and English soldiers who fought in the Boer War). Geneticists from this period were products of these times who also simultaneously helped shape their era. It is also unsurprising that the vast majority of the early eugenicists were men at a time when men still felt that they had the right to make reproductive, economic, and other life decisions for women. It is easy to call out their moral shortcomings – bigotry, racism, smug moral superiority, ableism, classism, sexism, etc. Some eugenicists were truly evil and many inflicted all kinds of awful harm but for the most part they were a bunch of flawed human beings, just like we are. They were reacting to what they perceived to be threats to their way of life and to (White Western European-centric) civilization, and many thought eugenics was a way of helping eugenically inferior people.
Cover of the June, 1934 edition of the popular magazine Physical Culture, with an article by the eugenicist Albert Wiggam titled “Shall We Breed or Sterilize Defectives?” To my eyes, the magazine cover evokes the Sidney Sweeney ads that teased eugenics and eros to sell jeans. Source: Ball State University Digital Media Repository, https://dmr.bsu.edu/digital/collection/PhyCul/id/22511
Purgatorio
The next phase in the historical development of genetic counseling was the rise of medical genetics as a clinical and research discipline in the decades following the end of the Second World War, critically examined in Nathaniel Comfort’s classic book The Science of Human Perfection. The mytho-story often told – which, zombie-like, refuses die and that Comfort and other historians have long repudiated – is that the founding figures of medical genetics and genetic counseling specifically rejected eugenic ideology, in part driven by the horrific practices of Nazi Germany. Medical geneticists took great pains to distance themselves from the excesses of their eugenicist forebears and criticized eugenics for its ethical shortcomings and simplistic understanding of genetics. Indeed, in 1947 Sheldon Reed famously defined genetic counseling as “a kind of genetic social work without eugenic connotations.” But, at the same time, many geneticists maintained membership in the American Eugenics Society and espoused beliefs and genetic counseling principles that to 21st century sensibilities sounds an awful lot like eugenics disguised as “educated parental choice” (Reed joined the society in 1956 and remained a member through nearly 2 decades and a few name changes of the society).
Some of the major social issues of this period were the worry about over-population of the earth (largely in poorer, non-White countries) in the context of supposedly limited resources, the health and genetic effects of ionizing radiation from nuclear bomb testing and detonation sparked by the detonation of atomic bombs over Nagasaki and Hiroshima and the ensuing nuclear arms race between the United States and Russia, the alleged relaxation of evolutionary selection due to advances in medical care and social changes that allowed survival of people who were genetically predisposed to medical conditions who might ordinarily have had no or few offspring, and the birth of babies with congenital conditions due to fetal exposure to rubella and thalidomide. Geneticists expressed their concerns for the quality of the human gene pool and the health of babies in the context of these issues and recommended various measures to ensure the genetic health of the population, such as greater access to contraception, reducing population growth, limiting exposure to ionizing radiation, and genetic testing and counseling. All while trying to distance themselves from eugenics.
The profession sometimes self-critically recognized its homogeneity but did not make concerted efforts to change the historical demographic profile. It was only over the last 5-10 years or so that more people have entered the profession who are non-White, of non-European ancestry, openly queer, live with a disability, are neurodiverse, and are male, even if the profession is still skewed toward its historical demographic. The newer less exclusive demographic has led to guiding ethical principals that focus on diversity, equity, inclusion, and justice within the profession and for the patients that genetic counselors serve. These issues are not unique to genetic counseling and are bitterly playing out in many social, political, and professional arenas.
Despite the increasing professonal diversity, several studies, personal recollections, and commentaries by genetic counselors from different backgrounds attest to the friction felt by both the “Old Guard” and the more diverse younger genetic counselors as these policies are implemented (or not) into training and clinical practice. Implicit biases abound in gatekeepers, supervisors, leading figures, research focus, and conferences. And, yeah, that includes me; far be it from me to cast the first stone. My generation of genetic counselors is very understandably criticized for the class, ethnic, and other biases of its practice, training, and ethos. The criticism hurts but probably because its core of truth makes us uncomfortable.
But at some point in the future, a fresh new generation of counselors will level a critique at the current practice, profession, and ethos of genetic counselors. and its focus on diversity, equity, inclusion, and justice. It is impossible to know what they will continue to embrace or decide to reject, or they might wonder how we could support certain viewpoints and practices, or shame us for some things, or criticize the language that we use. They will likely have a whole new set of issues that they feel will need to be freed from past baggage. Or maybe they will think the current generation is the apotheosis of moral practice (though I doubt it). As the history of medical genetics and genetic counseling illustrates, the ethos, morals, and clinical practice are always a microcosm of the larger socio-cultural environment. We are all situated within our eras and our ethnic and socio-economic context.
Though if we can only learn one constant about the history of genetics. it is that eugenics never goes away and it is always bad, whateve form it takes. We have to call it out when we see it, wherever it is. Maybe even in our own practice.
So let us practice ethical humility and recognize that even (especially?) highly ethical people have ethical shortcomings, difficult to admit to and often not obvious to us in the present but glaringly obvious with historical hindsight. We are all trying to do the right thing, even if we can’t all agree on what the right thing is. And the right thing changes over time, and we sometimes can’t appreciate when we are not doing the right thing. We are always on a journey, searching for ethical clarity.
*- The historical narrative is broadly similar in the United States, Canada, England and Australia. The history of genetic counseling in the rest of the globe is less well-studied but may not necessarily align with the narrative described here. Nonetheless, I suspect that the central concept of the current generation of genetic counselors passing judgment on the past will be true globally, although the details will differ.
**- Four of the captive Inuqhuit died in New York from acquired illnesses within a few months. The youngest, Minik, a 7 year old boy, was eventually raised as an adopted child of the museum’s chief building superintendent and somehow wound up working as a lumberjack in a small town in New Hampshire, where he died in his late 20s during the influenza epidemic.
by Ambreen Khan, Kim Zayhowski, Robert Resta, and Laura Hercher
This piece is our team’s account of censorship and threats from members of the genetic counseling community. It is both testimony and a demand that our profession do better. We were twice scheduled to present a webinar on the threat of modern eugenics – only for both events to be canceled after anonymous complaints and undisclosed claims about threats and safety. When organizations shield reputation over transparency, they marginalize dissent and chill scholarship that is essential to our clinical and ethical responsibilities. Institutional silence is not neutrality.
What actually happened?
Our webinar’s purpose was simple and urgent: to connect the historical roots of eugenics to the present. Genetic counseling partly emerged as a response to twentieth‑century eugenic abuses rooted in Francis Galton’s nineteenth‑century theories. We aimed to show that these ideologies are not relics but active influences – visible in the United States president’s eugenics-coded rhetoric, in technocratic visions of positive eugenics, and in colonialism and imperialism across the globe. We planned to demonstrate how sloppy science, genetic determinism, dehumanization, and essentialist language flatten human complexity and create openings for misuse; to interrogate whether elements of contemporary genetic counseling echo eugenic logic; and to engage participants in concrete strategies for explicitly anti‑eugenic practice.
Timeline of cancellation #1:
January 31, 2025: The proposal was submitted for the National Society of Genetic Counselors (NSGC) Annual Conference for a presentation on modern eugenics.
March 28, 2025: NSGC asked that the proposal be recast as a “Community Conversation” – a recorded webinar with a facilitated live discussion intended to extend reach.
June 4, 2025: We returned the revised proposal to NSGC. The final speaker team was Robert Resta, Laura Hercher, Ambreen Khan, and Kim Zayhowski. The live discussion was scheduled for September 29, 2025.
Summer 2025: We had many meetings as a presenter team about the content of each of our presentations. We assembled volunteer moderators, developed the session as a dialogic educational space, and stayed in regular contact with NSGC liaisons, sharing the slide deck and session plan for review.
September 4, 2025: The final recordings were submitted to NSGC, which were then posted for NSGC membership. We were informed several hundred people signed up for the event.
September 16, 2025: NSGC removed Ambreen Khan’s segment (“Reconsidering Eugenics through a Global Lens”) from the posted materials pending “fact‑checking” after complaints about alleged inaccuracies.
September 22, 2025: Following NSGC’s “fact-check,” the segment was restored with an appended reference list, and an overall disclaimer NSGC required stating that views expressed were the presenters’ own.
September 25, 2025: Four days before the scheduled live conversation, NSGC canceled the webinar and removed the recording. NSGC emailed the presenters and attendees, and referenced threats of violence to leadership and the organization as the cause of the cancellation. They provided presenters with no details, documentation, or evidence of those threats. Both emails said that the topic of eugenics would be addressed at a later date. NSGC paid presenters their honoraria.
October 6, 2025: One presenter followed up via email to request specific information regarding the nature of the threats, whether their source had been identified, what content provoked them, and if law enforcement had been involved. The presenter emphasized that, as a speaker for the upcoming annual conference, understanding any security risks related to the presentation’s content was essential for safely preparing future talks.
October 8, 2025: NSGC acknowledged that the questions were “very reasonable” and stated that the source of the threat had been identified and “addressed” with legal counsel, leaving “no ongoing concern.” They offered no specifics on the threats’ content, their origin, how they were handled, or what material had provoked them. Without these details, the presenter team could not evaluate their own safety for future engagements. To date, the talk has not been rescheduled and no explanation has been provided for why restoring the recording is not possible if the threat has been fully resolved.
Timeline of cancellation #2:
December 16, 2025: A genetic counseling graduate program’s Diversity, Equity, Inclusion, and Justice Committee reached out to the presenter team and invited a similar presentation on modern eugenics for a webinar open to genetic counselors and students. The event was organized by students and approved by program leadership for February 9, 2026.
January 28, 2026: The program emailed the presenter team and canceled the webinar, citing concerns about “belonging for all” and “potential lack of balanced perspectives” that they claimed would violate the university’s nondiscrimination policy, along with anticipated safety concerns. The email stated that the messages sent to the University expressing concerns had assumed the event’s material was the same as the Community Conversation referenced above. The program confirmed the content had not been fully reviewed before making the determination to cancel. One presenter noted that the cited university policy explicitly protects academic free speech even when it may provoke opposition or external pressure directed at the faculty or the institution. Promotional social posts (which had attracted 100+ likes and supportive comments) were deleted without announcing the cancellation.
Targeting and double standards
During NSGC’s “fact-checking” process, one speaker, Ambreen, was singled out for the portion of her presentation which analyzed genocides in the United States, Germany, Rwanda, and Gaza through the lens of medical ethics and eugenics. Complaints about her presentation were framed as questions of academic veracity. NSGC restored her content after review with appended references. In our view, this outcome indicates that the complaints were motivated less by demonstrable concerns about factual integrity and more by ideological opposition to her inclusion of Gaza and her critique of Israeli policies.
Ambreen and the Council on American–Islamic Relations (CAIR) sent NSGC a formal letter on November 10, 2025, urging procedural reforms. CAIR offered to help NSGC “review internal procedures for handling complaints to ensure that concerns about content do not serve as a pretext for suppressing marginalized voices or politically sensitive topics.” To date, more than three months later, neither Ambreen nor CAIR has received any acknowledgement or follow-up.
The CAIR letter underscored the harm of institutional repression, stating:
“One of the so-called citation concerns involved Ms. Khan failing to include a reference to Israel’s offer to treat Gazans in Israeli hospitals. It appears that Ms. Khan’s detractors simply disagree with her assertion that what Israel has done in Gaza is tantamount to genocide, which is a position they are able to hold and argue, but it should not result in the systematic silencing, censorship, and reputational harm to Ms. Khan. To be clear, Ms. Khan’s citations appear to be adequate; the disagreement appears to rest not on the veracity of her sources but on interpretation and analysis, which is within the scholarly discretion of any presenter. Singling out her presentation for heightened scrutiny and censorship has created a hostile and chilling environment for scientific and ethical dialogue. … Unfortunately, this is not the first time NSGC has censored members regarding the genocide in Gaza. We view this as an opportunity to engage in reasonable and appropriate restorative steps.”
What is at stake?
Censorship is not new to genetic counseling: our profession has navigated pressure over which histories, patient stories, and ethical critiques are acceptable to teach and debate. In recent years that pressure has intensified, playing out both publicly – high‑profile cancellations, wide-spread written petitions, and calls for professional sanctions – and privately, as quieter demands to remove material from syllabi, discourage certain research topics, or advise speakers to avoid specific language.
When educators and researchers preemptively “tone down” lectures, avoid case studies, or divert research away from challenging topics out of fear, they inflict a lasting corrosion of knowledge. Self‑censorship is the stealth weapon: curricula thin, research agendas narrow, and trainees learn that caution equals professionalism. Unlike an explicit ban, self‑censorship is invisible – until whole domains of knowledge vanish from professional discourse. That quiet retreat institutionalizes ignorance.
When a government or institution decides which ideas are acceptable, it ceases to be a sanctuary for inquiry and becomes a tool for social control. Across the world we see a coordinated strategy to suppress scholarship: in Hungary, the government outlawed gender studies to replace independent scholarship with state-sanctioned curricula; in India, the state uses police, laws, and bureaucracy to silence critics; in the United States, topics like Palestinian rights and Critical Race Theory are suppressed through legislation and institutional pressure.
This is not about ideological grandstanding; it is about clinical competence. Clinicians who cannot name the political and historical dimensions of eugenics are ill-equipped to safeguard patients from coercive programs or discriminatory allocation of care. Patients most at risk – disabled people, people seeking reproductive care, BIPOC communities, immigrants – pay the price. If our institutions silence education on the role of eugenic impulses in shaping border policy, how can genetic counselors recognize its modern iterations targeting immigrant patients? And if we cannot name Gaza or Sudan as sites where medical ethics are violated, what framework do we have to recognize – much less resist – the same violations anywhere else?
Teaching should be emancipatory, not neutral. Thinkers from Paulo Freire to bell hooks and Henry Giroux frame teaching as naming injustice and treating the classroom as a site of ethical resistance. The Palestinian ideal of Sumud (صمود) – a steadfast, rooted perseverance against erasure – extends this vision: learning itself becomes a daily act of standing against oppression.
Yet educational institutions too often prioritize procedural risk management over ethical clarity. When institutions invoke “safety” without sharing assessments or supporting speakers, the loudest and most aggressive opponents effectively decide what may be taught.
Eugenics thrives not only on coercive policy but on silence – on what is not taught, not researched, and not challenged. When institutions bow to intimidation and erase critical inquiry, they remove guardrails that might otherwise prevent discriminatory policies and coercive practices.
A call to action
We as a genetic counseling community must decide whether genetic counseling will be a profession that names power, confronts history, and defends the scholarship our patients depend on, or one that retreats into procedural silence when challenged. That choice belongs to all of us. The genetic counseling community does not have to, and should not, agree about everything but we should be able to respectfully, thoughtfully, and safely engage in debate and discussion.
Our team asks academic programs and professional societies to adopt the following policies to protect both safety and academic integrity:
Publish transparent moderation policies and threat-protocols
Make public criteria for removing or modifying recorded or live content, including what level of threat justifies cancellation and what evidence is required.
When “safety” is cited, share a summary of the threat assessment with presenters and with the membership (while protecting any legitimately confidential investigative details).
Include presenters in safety planning
Share threat assessments and possible mitigation strategies with speakers.
Collaborate on concrete steps (e.g., moderated Q&A, delayed posting, platform security, legal support) before deciding to cancel.
Provide visible, material support to targeted scholars
Offer logistical, legal, and public backing (e.g., an institutional statement affirming vetted content, assistance with security measures, and a designated liaison for harassment complaints).
Establish clear anti-retaliation policies for educators, students, and members who report censorship or advocate for reinstating removed content.
Create an independent appeals and review mechanism
Establish a review process for decisions to remove content or cancel events, with a timetable for review and public reporting of outcomes.
Commit to essential curricula
Ensure core training includes the political and historical forces shaping medical care in general and genetic counseling specifically, and defend those curricular commitments from suppression.
Remedy past harms
Publicly acknowledge cancellations that lacked transparency, reinstate or re-record content where appropriate, and issue formal apologies and restorative steps for presenters who suffered reputational harm.
Credible threats of violence are serious matters that deserve careful attention and response. Our demand is procedural: when safety is invoked, institutions must show evidence of due process, involve presenters in mitigation, and exhaust alternatives to cancellation before erasing vetted educational content.
In an era when threats are weaponized to control knowledge, yielding to intimidation forfeits our capacity to confront hard truths about power, policy, and medicine. Our duty is twofold: protect people from immediate danger and protect the integrity of knowledge itself. Silence may be easier, but it is a dangerous abdication. We are all responsible for the profession we build. Defend evidence. Defend teaching. Defend the people – patients, students, clinicians, and scholars – who depend on both.
Author note: This account is based on our direct involvement as presenters and on preserved documentation and correspondence with the institutions referenced. It reflects factual information available to us through our participation and our professional judgment. We remain available to address and correct any substantiated factual inaccuracies. The opinions and interpretations herein are exclusively our own and do not necessarily reflect the positions of our employers or affiliated institutions.
Autonomy has been a core guiding ethical principle of genetic counselors pretty much since the profession’s founding in the early 1970s. There are various definitions of autonomy but on a work-a-day basis in genetic counseling, it is usually conceptualized as the right of patients to make decisions about genetic testing that are educated and without undue external influence or pressure. It relies heavily on information-based consent. It is often, though not exclusively, evoked in the context of reproductive decision making, such as choosing whether to have children, whether to undergo prenatal testing and which test to have, and whether to continue a pregnancy if a fetal condition is diagnosed.
Reproductive autonomy in the context of genetic counseling was seen as an antithetical counterpoint to the Anglo-American-Germanic eugenic ideology of the first half of the 20th century and consistent with the wider trend in medical care to be patient-centered. But in a table-turning move, reproductive autonomy is now being used as an ethical justification for offering what many have called a modern version of eugenics – preimplantation polygenic screening of embryos for traits such as IQ, height, and eye color. I am not going to name the companies offering the testing because they don’t deserve or need the advertising. But the basic argument they make is that parents have an autonomous right to have children with the kind of traits that parents desire. Some people choose reproductive partners on this basis, so how is that any different than using a polygenic score?
The space between a trait and a mild medical condition, and between a mild versus a serious medical condition, is full of shades of gray but some of the traits that polygenic embryo testing screens for are clearly not medically signfiicant. Autonomy, as currently conceptualized, is unclear about which tests for which traits or medical conditions should be available to prospective parents or what ethical principles should guide parental choices.
Let me make my biases clear. I have a lot of criticism of preimplantation polygenic embryo screening. I don’t think that patients, children, or society benefit from the ability to select for these traits. The predictive value of polygenic screening for the traits is limited and questionable. And even if testing were reliable, is it worth tens of thousands of dollars to have a blue-eyed kid who is an inch taller and has an IQ 7 points “higher”? It almost sounds like a scam because parents will never know if their bundle of eugenic joy truly is taller or “smarter” than if they had just rolled the gametic dice.
I am also not convinced it will ever catch on to any large degree. Sure the ultra-wealthy can well afford it but IVF is a physical and emotional bear to go through (Note to those who push IVF on their partners) and a live birth often requires multiple cycles of embryo transfers. To say nothing of the higher incidence of pregnancy and neonatal complications associated with IVF, which is not entirely explained by parental characteristics. I also don’t like how preimplantation polygenic embryo screening has been subtly legitimized by giving it a set of initials: PGT-E (for preimplantation polygenic testing of embryos, just like PGT-A (for preimplantation aneuploidy screening), PGT-M (for monogenic conditions). Identifying something by its initials suggests that it is a common and widely accepted practice, which preimplantation polygenic embryos screening definitely is not.
Really, the threat to society is not preimplantation polygenic testing. The more serious threat is that a bunch of garden variety jerks with unimaginable wealth and power will raise a new generation of even wealthier and more powerful jerks who think they are privileged and God’s gifts to humanity. Someone should develop a polygenic score for being a jerk.
But back to the autonomy issue. Until now, challenges to autonomy stemming from which conditions should be available for prenatal testing have been raised before. Is it ethically acceptable for deaf couples to select for having a deaf child? What about a couple with achondroplasia choosing to terminate a pregnancy in which the fetus was of normal stature? These scenarios, not particularly common in clinical practice, were often evaluated from an ableist bias. Back in the 1980s, when amniocentesis and CVS were the only means of reliably determining fetal chromosomal sex, there was a general taboo against prenatal testing strictly for this purpose. This was a partially racialized ethic; not uncommonly, in the US the taboo was invoked in the context of Chinese or Indian parents but not typically for non-Asian parents who were nominally undergoing prenatal testing for “parental anxiety.” Now that fetal chromosomal or anatomical sex can be determined early and reliably in pregnancy, the ethical discussions seem to have been pushed aside because, well, I guess that information is now considered “fun” or “practical.”
Preimplantation embryo polygenic screening to select for non-medical traits is, to some extent, a natural extension of the way that people have been choosing gamete donors for decades. Gamete donor profiles include a bewildering array of (usually unverified) donors’ non-medical traits such as demographics, educational attainment, reading preferences, and employment. This may in part be driven by patients’ emotional desire to choose a donor who might have the characteristics of person that the patient would have chosen to have a baby with if gamete donation was not necessary. But there is also an element of hoping that these traits might have a genetic basis and thus the child might share some of these same traits.
In the context of preimplantation polygenic embryo screening, the argument is made that patients are informed about the limitations of the predictive ability of polygenic testing and they are making knowledgable choices free of external direct pressure. For the moment putting aside the argument that commercial for-profit companies may not provide unbiased information and that there could be a certain amount of sales pressure, this is pretty much the same ethical justification used for any prenatal test. One ethical justification to rule them all. Although many of us may have the gut reaction that polygenic embryo screening is just plain wrong, there is little in this practice that violates the common conceptualization of autonomy.
In a challenge to the traditional conceptualization of autonomy, Ainsely Newson, Isabella Holmes, and their colleagues from the Universities of Sydney, Melbourne, and New South Wales recently offered up a different take on reproductive autonomy, a model that addresses some of the issues I raised above.* They delineate a conception of autonomy characterized by four attributes – qualtitiatve, relational, institutional conditions, and weakly substantive. These are outlined below, along with some thoughts on my part of how they might apply to preimplantation polygenic embryo screening.
Qualitative – the number of options offered to patients is less important than the quality of those options. Those options should be presented in ways that are consistent with patient values and such that patients are aware of the limitations of genomic testing in predicting what it means for their offspring. It requires good counseling skills to explore with patients what the traits in question mean for their lives and to what extent preimplantation polygenic screening of embryos reliably results in the promised outcomes. It also suggests that genetic counseling should not be performed by entities who have a financial stake in patients’ decisions. No criticism of the hard working, highly ethical genetic counselors, physicians, nurses, and other healthcare professionals who work for these companies, but, from a patient standpoint, a third party may be a preferable source of information.
Relational – No one exists in a social vacuum. Everyone is embedded in a social and economic context that can impact decision-making. Wealthy parents who are highly educated and have extensive resources may feel social and familial pressures to have children with traits that are presumably related to wealth and education. Conversely, less advantaged parents may feel pressure to offer their children as many biological advantages as possible, which they might think include higher IQ or being taller. Eye color? Well, that’s pretty much ethnically embedded. And everybody faces the pressure of having “a healthy baby,” a pressure intensified by advertisements that genetic testing helps assure a healthy baby.
Institutional Conditions – Patients need equal access to affordable health care, control over decisions about when and where to have children, and medical, educational, and financial resources. If everybody has equal access access to the same resources, then a test that predicts an inch of height or a few IQ points is less useful if the appropriate environment will have the same or even better effect.
Weak Substantivism – The process of how a patient makes a decision is less important than how it reflects the normative substance of the decision. In the context of preimplantation polygenic embryonic screening, the normative decision – “the right decision” – may be to have blue-eyed taller, higher IQ children, as imposed by the norms of a White Eurocentric majority. If instead a decision is made that is consistent with patient values rather than strong normative pressures, then it is weakly substantive.
The article is not an easy read for those of us less conversant with the bioethics literature; I had to read it a few times to get a handle on it. I freely admit I may have misconstrued some of their ideas and stand open to correction. But it is an excellent starting point for revisiting the concept of reproductive autonomy in the context of genetic counseling and how the concept of autonomy needs to be relevant to the current genomic universe.
Maybe too we should think about other ethical principals to consider in addition to autonomy. Complex decisions require complex ethics (I will leave that one for bioethicists and the Good Readers of The DNA Exchange to debate). We are living in the 21st century, not the 20th century. And God knows the world does not need eugenics.
_________________________________________________
The Holmes et al. paper use the term pregnant agent to refer to the pregnant person. This makes sense in the context of their ethical arguments about who has agency to make decisions about pregnancy and the complexities of who can carry a pregnancy and how pregnancy can be achieved.
There are many reasons people undergo DNA analysis. Medical decision making and risk assessment. Prenatal screening and diagnosis. Ancestry testing. Wellness and lifestyle advice so someone can reap profits off of largely useless data. Parentage testing. Police investigations. The analysis might involve different tests, such as sequencing your entire genome (give or take a few million base pairs), targeted portions of it, single gene sequencing, single nucleotide polymorphisms, or karyotyping, to name a few. The results are usually treated as a static bit of information that is an accurate representation of your genetic make-up throughout your lifetime. The implicit message often is that you are the external manifestation of this single DNA test, like a DNA sequence was a map with an arrow pointing at it with the message “You are here.”
But really, no test can come close to capturing all of the DNA in your body. Any one test or set of tests , while they may be highly accurate in the right hands, only capture a DNA sequence in a particular tissue(s) at a particular moment in the lifespan and is useful only for a specific reason such as cancer treatment, assessing disease risk, or reproductive decision making. It’s a snapshot taken with a single narrow lens for a single purpose, not an ongoing video using a multidimensional wide-angle lens. The snapshot could look quite different depending on which tissue is sampled or if the snapshot is taken at a different moment in time.
Let’s start at The Beginning, or actually, just before The Beginning. As the result of meiotic scrambling, maternal and paternal chromosomes will be distributed among the gametes in a bewildering mix of maternal and paternal contributions. Like about 8 million possible different combinations of maternal and paternal chromosomes. Estimates vary because who analyzes each oocyte in the fetal ovaries, but a 20-week female fetus probably has somewhere between two to eight million oocytes. In other words, it is possible that each of those oocytes has a unique combination of maternal and paternal chromosomes. The number of aneuploid oocytes in utero is unknown, but during reproductive years around 10% of oocytes are aneuploid or have an unbalanced structural aberration, with the percentage increasing with maternal age. Trinucleotide expansion repeats responsible for Fragile X syndrome and Huntington disease can arise in oocytes during meiotic prometaphase 1.
In a young male’s typical ejaculate, with tens to hundreds of millions of sperm, there is a higher but still low probability that maybe a few of those sperm will have identical maternal and paternal chromosomal contributions. But about 10-15% of sperm cells have chromosomal abnormalities, with perhaps 90% of those being structural rather than numerical. On top of this, de novo pathogenic gene variants can arise in any gamete, with the probability increasing with a paternal age. And no one has any idea of the frequency of de novo variants in non-coding regions in spermatozoa or oocytes.
Perhaps the only time in human development that we have a single genome is immediately at conception, although that may apply only to nuclear DNA since the mitochondria of the fertilized egg could be heteroplasmic. But as the fertilized embryo undergoes mitosis, different genomes arise almost immediately. Chromosomal mosaicism is detected in a significant number of embryos; anywhere between 2 and 40%, depending on a number of factors. About 2% of CVS specimens, which are derived from the fetal aspect of the placenta, are chromosomal mosaics. Mosaic single gene variants can also arise in neuronal progenitor cells, primordial germ cells, and other tissues. Fetal cells and cell free DNA work their way into in maternal circulation during pregnancy and the cells can persist in maternal circulation for years, a form of microchimerism.
Beyond conception and the embryonic period, somatic gene mutations regulary arise in fetuses, children, and adults in many different tissues. Some mutations are repaired, some persist and are clinically insignificant, and others make significant contributions to human disease. Cancer, for all intents and purposes, arises from somatic mutations. Cancer cells themselves then often go on to develop a bewildering array of mutations as the cancer grows and metastasizes. Mutation profiles can vary within the same affected tissue or between affected tissues. Further DNA damage can be induced by chemotherapeutic agents. Then there’s chromothripsis, where the genetic wheels come off altogether.
Clonal hematopoiesis of indeterminate potential (CHIP) is the result of somatic mutations in hematopoietic tissue and occurs in about 10% of people age 70 or older. CHIP is associated with an increased risk of many diseases, such as hematologic cancers, coronary artery disease, heart failure, stroke, and pulmonary disease.
X chromosome inactivation and mosaicism are another source of intra-person genetic variability. One X chromosome will be largely inactivated in anyone who was born with more than one X chromosome. This could have significant clinical effects, such as manifesting symptoms of Duchenne muscular dystrophy or hemophilia, often depending upon which X chromosome is inactivated and in which tissue. Furthermore, people with more than one X chromosome tend to lose one of their X chromosomes in some of their cells, especially as they age, such that they are X chromosome mosaics, which might lead to cognitive impairment.
The DNA of immune cells constantly alter themselves through processes such as somatic recombination and somatic hypermutation. This variability allows the immune system to respond in highly specific ways to so many different types of infection and cancers, and to help the healing process.
On top of all of this, we co-inhabit our bodies with all sorts of bacteria, viruses, protozoa, archaea and God knows what else, the composition of which changes regularly. In fact, most of the cells, and therefore most of the DNA in our body, are microbial (it varies at any given moment in time, like after a bowel movement). Since these microbes are symbiotic living parts of our bodies, their DNA is also our DNA.
Mitochondria are likely the remains of a microorganism that was integrated into host cells in our deep eukaryotic past. Mitochondrial DNA can be heteroplasmic, that is, any given mitochondrion can acquire a wide range of mutations that do not occur in other mitochondria. Heteroplasmy can be a significant source of medical conditions, depending on the degree of heteroplasmy and its distribution.
Intra-person genetic variability is one of the many reasons it is foolish and inaccurate to say that our DNA defines us. Each of us has many constantly shifting DNA sequences throughout our bodies and each sequence can play out in our lives in different ways at different times. The interaction of these sequences with each other and with our cellular, bodily, and external environments is so exquisitely and frustratingly complex that it is beyond comprehension by human or, I will wager, artificial intelligence (how could AI analyze the entirety of a person’s DNA sequences if it is impossible to capture all of those sequences at once, on top of which those sequences change over time?). Human beings are infinitely more complex than the near infinite sum of each of our body’s many genomes. We should all sing the body electric.
The love of the body of man or woman balks account, the body itself balks account – Walt Whitman, “I Sing The Body Electric”
About a year ago, I wrote a DNA Exchange piece about the history of how the International Olympic Committee, the governing body of the Olympic Games, decided who could or could not compete as a female. It’s not a pretty history. On July 30th of this year, the saga continued as another sports organization, World Athletics*, the governing body of international track and field and related events, issued new guidelines for anyone who wants to compete as a female in international competitions. The guidelines took effect on September 1, 2025.
It’s not pretty either.
Per the guidelines, Eligibility Rule 3.5.1: In these Rules, ‘biological male’ means someone with a Y chromosome and ‘biological female’ means someone with no Y chromosome, irrespective of their legal sex and/or gender identity.
Per Regulation 3.5.4: An Athlete must demonstrate their eligibility to compete in the female category by means of SRY testing (sex-determining region Y gene analysis) of an Athlete’s buccal cells (i.e., cheek swab testing) or blood sample. a. If the SRY test is negative, the Athlete will be permitted to compete in thefemale category. b. If the SRY test is positive, the Athlete will not be permitted to compete in the female category pending further medical assessment by World Athletics. c. An Athlete who fails to undergo SRY testing as requested by World Athletics will not be eligible to compete in the female category.
Apparently, World Athletics views SRY as the business part of the Y chromosome and therefore is equivalent to having a Y chromosome. This policy makes a geneticist wince – a chromosome is not equivalent to a single gene and a single gene does not a chromosome make.
Technically, per Regulation 3.5.5, athletes who World Athletics rules are biological males can compete in the female category. However, they can compete only if the event is not a World Rankings Competition, their results are not counted for world records, and their results would be listed separately. Not exactly an enticement to compete.
SRY testing is just one way to categorize sex. There are many ways to categorize biological sex in humans besides presence or absence of SRY – anatomy, hormonal levels, karyotype, gamete size, and the many genes linked to the development of primary and secondary sexual characteristics. When all these align, there is usually little controversy as to whether someone is a typical biological male or a typical biological female. However, as geneticists and other concerned medical professionals know all too well, the criteria often do not align. Choosing any one criterion to decide who is male or who is female will inevitably fall short.
For the uninitiated, SRY is a gene located on the Y chromosome that produces a protein called sex-determining region Y protein that can influence the embryonic development of testes and ultimately testosterone production. Testosterone levels are strongly linked to some forms of athletic performance. Often – but not always – individuals who have a functional SRY gene develop typical male primary and secondary sexual characteristics. In a simpler world, anyone born with an SRY gene would be a biological male and anyone born without an SRY gene would be a biological female. But it is unfortunate and inaccurate to call the protein “sex-determining.” The real world is complicated, not simple. Multiple genetic and non-genetic factors influence your biological sex.
There are also individuals who have a 46,XX karyotype and a negative SRY test and who you would say were males if you saw them walking down the street or naked in the gym dressing room (though some of these individuals may have external genitalia that are not clearly typical male or female). There are even, rarely, 46,XX SRY positive fertile females.
An accompanying FAQ to the guidelines states that the organization will contribute $100 to each athlete towards the cost of the SRY test. I don’t know what labs will charge, but this sounds like a reasonable amount to me. However, athletes may need to travel significant distances to obtain a test to allow for chain of custody. This could be a burden in countries where such labs are not widely available. The test is highly accurate for the presence or absence of the SRY gene when the lab is highly experienced and capable, but currently there is no single centralized laboratory or approved list of labs performing the test for World Athletics, and thus there is no quality control. This may become a problem if testing is performed in many different labs around the world, especially where labs have insufficient experience with SRY testing or have a history of cheating scandals when performing lab tests, such as has been reported with testing for performance enhancing substances.
In a misstep sure to sink the hearts of genetic counselors everywhere, World Athletics guidelines recommend post-test counseling and guidance but unfortunately the organization is silent on pre-test counseling. Incidentally, item 7 on the FAQ sheet refers to “the Y gene,” once again conflating genes and chromosomes. Also, I am not sure why the sample requirements are only buccal swabs or blood samples. A saliva sample should work just as well for SRY testing as a buccal swab and is easier to reliably obtain. Perhaps World Athletics is also conflating buccal swabs and saliva samples? Someone should tell them we’ve updated appropriate samples for genetic testing since the days of Barr body testing.
Athletes who are SRY positive may choose to undergo further evaluation if they want to challenge the result. Athletes who choose to have further evaluation and are found to have Complete Androgen Insensitivity Syndrome (CAIS) can compete as females under certain conditions. But Item 10 on the FAQ indicates that athletes who have DSD conditions other than CAIS will be ineligible to compete as a female: If the SRY test and the subsequent medical assessment confirm that the athlete has a 46XY DSD condition then, unless the athlete has an established 46XY condition called Complete Androgen Insensitivity (CAIS), this athlete is ineligible to compete in the female category in a world ranking competition. In other words, only females with one specific type of DSD can be eligible to compete. This is important because individuals with differences in sex development are generally over-represented in female athletics.
The regulations in other sports governing organizations for determining who is allowed to compete as a female do not always include SRY gene testing. For example, in the United States, the Women’s National Basketball Association (WNBA) and the National Women’s Soccer League (WNSL) do not use SRY testing to determine eligibility to complete in their leagues (for a sport-by-sport listing of female eligibility, see this listing by the Women’s Sports Policy Working Group). The International Olympic Committee has no specific guidelines of their for who can compete as a female. Instead, they leave it to the governing bodies of each sport to determine their own criteria. Thus SRY positive females could compete in some Olympic events but not in others, depending upon the guidelines of the governing body of their particular sport.
The World Athletics guidelines appear to be specifically for individuals with differences in sex development rather than targeting transgender women. World Athletics has separate guidelines for transgender women that basically do not allow a transgender athlete to compete as a female if they have undergone male puberty. But probably many transgender women are SRY positive, so requiring an SRY test would just serve as a further block transgender women from competing as females.
Determining who is eligible for competition as a female is important to maintain fairness in elite level sporting events that rely on power, strength, speed, and endurance, where elite male athletes significantly outperform elite female athletes. If biological males are allowed to compete as females in elite competitions, it could result in fewer SRY negative women competing and winning in international athletics competitions and subsequently earning less income from endorsements.
So what is to be done? It’s clear that separating humans into males and females is biologically complicated and loaded with psychological, personal, religious. and cultural biases. Still, it seems reasonable to develop scientifically based criteria that are as fair as possible to all athletes, recognizing that total elimination of unfairness is likely impossible. These criteria should be consistent across all sports where performance differences between sexes is well documented and the result of biology rather than from cultural practices that limit the opportunities for females to compete in sports. As a start, let me suggest some points that all sports governing bodies should consider:
Support research into the various genetic, environmental, hormonal, and developmental factors that affect SRY gene expression and incorporate the results of that research into eligibility criteria.
Support research into the genetic, environmental, hormonal, and developmental factors that affect both sports performance and the development of primary and secondary sexual characteristics, and incorporate the results of that research into eligibility criteria.
Include qualified genetics professionals as part of the committee(s) that evaluate and choose criteria for determining sex. If nothing else, geneticists can remind them of the distinction between genes and chromosomes.
Allow athletes whose sex is in question to undergo a complete array of biological and genetic evaluation beyond a single test such as SRY, with clear criteria for the role of each test alone and in combination in determining eligibility to compete as a female. SRY is perhaps better thought of as a screening test rather than a diagnostic test for sex. Although even a larger battery of evaluations will still result in some athletes falling into a gray zone, it will be fairer and more scientifically based.
The World Athletics regulations pretty much ban all athletes with DSD from competing, unless they have CAIS. This paints these complex situations with a broad brush. Each form of DSD needs to be evaluated in its own right in terms of eligibility criteria.
Criteria should be guided by fairness to all athletes, and free of political, social, and personal biases and influences. Every athlete deserves to be treated with respect, compassion, dignity, and fairness.
Athletes must, must, must have pre-test counseling by a qualified genetics professional or other medical professional with relevant expertise before any testing is performed. Learning that you have a previously unknown difference in sexual development can have major life-altering implications for one’s sense of self, sexual identity, reproductive future, and potential health problems associated with some DSD conditions. Some individuals may choose to withdraw from competition until such time as they are emotionally ready to undergo genetic evaluation. And I am talking about counseling, not just information provision.
Evaluating criteria should be an ongoing process that takes into account the latest advances in genetics, biology, and medicine.
If other genes unrelated to biological sex are ever found to have a significant impact on athletic performance, will these then be incorporated into athletes’ eligibility to compete? Should it result in the creation of competition categories based on genetic profile and not sex?
Maybe the biggest roadblock to implementing better criteria are the explicit and implicit biases, prejudices, and political ideologies that everyone brings to the table. It will be important to hear all viewpoints with an open mind and with the best interests of athletes as the guiding light.
– World Athletics was formed in 1913 when it was known as the International Amateur Athletic Federation (IAAF). In 2001, it changed its name to the International Association of Athletics Federations. The organization’s name was changed to World Athletics in 2019. In a narrow sense, athletics refers to various running sports, track and field, and race-walking.
The controversy-du-jour in the mediaverse this past week centers on an advertising campaign for a pair of jeans by an apparel company, starring uber-celebrity Sydney Sweeney, that has raised the eugenics specter. It also capitalizes on the faded pun of jeans/genes, which gave me literary leeway to use the weak pun in the title of this posting. The controversy will likely be so short-lived that by the time this posting is up, the world will have its knickers in a twist over something else. But in these polarized times where everyone thinks they are so damned right about everything that they have to let the world know their opinions, everybody’s getting into the act of expressing outrage or support about the ad campaign. Since I too am so damned right about everything (ahem), I figured I should enter the fray.
The Sydney Sweeney video is not trying to sell eugenics by way of the jeans she is wearing. The videos are trying to sell jeans she is wearing by way of Ms. Sweeney’s derrière and breasts. As the Chorus Line number Dance 10 Looks 3 (otherwise known as the the Tits and Ass song) goes, “Debutante or chorus girl or wife/Tits and ass/yes, tits and ass/Have changed my life.” It’s part of the awful advertising tradition of using sex and bizarre notions of a “perfect” body image to sell over-priced products of questionable value. The video ends with a statement to the effect that these jeans can make everybody look sexy, not just slim young white women who meet the Madison Avenue criteria for sexy. Otherwise, product sales would be pretty low.
Some other advertisements linking genes and jeans.
That being said, the ad campaign has its share of eugenic tropes, but they are not unique to this particular ad campaign. I suspect that using these tropes was not a conscious decision to make a statement about eugenics. Instead, these eugenic tropes have been so woven into the fabric of American culture that they are naturally expressed in our language, media, and advertising.
Eugenic tropes in advertising go back over a century. The historian of science/lawyer Paul Lombardo has unearthed older advertisements from between 1910 to 1940, which are a less coy about the eugenics connection than the Sweeney ads. Here’s a few of them (Oh those prices!):
Some eugenic-themed advertisements from the first half of the 20th century, from the work of historian of science Paul Lombardo
Obviously, hairstyles, shoes, and diamonds have nothing to do with genes. Rather, the ads play on the perception that eugenics is associated with superiority. Since the ads don’t explain what eugenics is, it suggests that American consumers were aware enough of eugenic ideology that eugenic notions could be used to sell a product.
The concept of an ideal (i.e., White) female body type was also part of eugenic ideology. The text of an advertisement for a lecture by Albert Wiggam, a notoriously bigoted popularizer of eugenics, about the threat of immigration of “inferior” people, makes this clear: “The American woman is rapidly becoming ugly… her place is being taken by the low-browed, broad-faced, flat- chested women of lower Europe.” The antithesis of Sydney Sweeney. No modern advertising copy would make such a bold-face racist statement (at least, I would hope not, but these days…..). Instead, advertisers use the image of a Sydney Sweeney type because that idealized image of a female body has already been embedded in our psyches. Think of the 1979 Bo Derek movie “10.” Indeed, nearly all advertisements that use sex to sell a product use some variation of this eugenic female image. Incidentally, half of my ancestors migrated from “lower Europe.” The other half of my ancestry migrated from Eastern European, another group of immigrants despised by eugenicists. I didn’t realize how ugly I am until I started reading original sources in eugenics.
Below are some more recent advertising examples that capitalize on the idea that some DNA is superior to other DNA, and that it molds our ethics and character, though the Mini Truckin’ ad is a bit of a stretch to my mind.These examples do not use sexual suggestion to communicate their message.
What it comes down to is that eugenics was so pervasive in American society a hundred years ago that it became, well, part of our cultural DNA to this day. So of course it is going to appear in advertising. Advertisers are not trying to stir up a eugenics revival. Heck, that’s already happening thanks to mad men, not admen. Or, really, eugenics just never went away.
Even inanimate objects can have superb genetics. Toyota no longer produced the Tercel, so I guess its genes were not so great after all.
I could imagine a different version of the Sweeney ad. It would show images of many women of all skin tones and body shapes wearing these jeans and looking sexy. The sell-line would be “They were all born with great genes. But these jeans make their asses look great!” This shifts the focus from hereditarian ideology to mixed genetic/environmental ideology, with the jeans being the equivalent of the environment. Well, perhaps that’s a bit of a metaphorical stretch. But it also changes the discussion from eugenics to Diversity/Equity/Inclusion (DEI), which is bound to raise even more hackles because it’s actually ethical.
Okay, maybe I don’t have a future in advertising.
But please don’t tell ICE about my DEI advertising suggestion. Masked men dressed in black may forcibly drag me off to a prison in a country run by a cruel dictator thousands of miles away. Especially when they get wind of the fact that I am a grandson of immigrants from undesirable countries.
Thank you to Ambreen Khan for bringing this ad campaign to my attention.
Dena Goldberg, the ever-creative genetic counselor, has produced this video about the Sweeney/eugenics controversy. Coincidentally, Dena displayed her singing chops with a rendition of “Dance 10 Looks 3” at the 2020 GCs Got Talent talent show and fundraiser sponsored by the Genetic Support Foundation. Maybe we can get her to reprise her performance at the upcoming GCs Got Talent show and auction to be held in conjunction with the 2025 NSGC Annual Conference in Seattle. And any other GCs who are dancers, singers, comics, story tellers or otherwise creative talents should sign up to perform or donate their arts and crafts creations. The evening event is always a blast. To be hosted by Yours Truly.
![The Barque of Dante (French: La Barque de Dante), also Dante and Virgil in Hell (Dante et Virgile aux enfers), is the first major painting by the French artist Eugène Delacroix, and is a work signalling the shift in the character of narrative painting, from Neo-Classicism towards Romanticism.[1] The painting loosely depicts events narrated in canto eight of Dante's Inferno; a leaden, smoky mist and the blazing City of Dis form the backdrop against which the poet Dante fearfully endures his crossing of the River Styx. As his barque ploughs through waters heaving with tormented souls, Dante is steadied by Virgil, the learned poet of Classical antiquity.
Pictorially, the arrangement of a group of central, upright figures, and the rational arrangement of subsidiary figures in studied poses, all in horizontal planes, complies with the tenets of the cool and reflective Neo-Classicism that had dominated French painting for nearly four decades. The Barque of Dante was completed for the opening of the Salon of 1822, and currently hangs in the Musée du Louvre, Paris](https://thednaexchange.com/wp-content/uploads/2026/04/image-13.png)
The DNA Exchange 