Author Archives: Robert Resta

by | October 14, 2025 · 11:48 AM

My DNA Contains Multitudes. So Does Yours.

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.

Beyond cancer, other medical conditions can arise from genomic variability. Trinucleotide repeats can expand and contract over time and can vary between and within tissues and may significantly contribute to adult and childhood onset neurological disease. Mosaic or segmental neurofibromatosis is caused by post-zygotic NF1 mutations.

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.

Transposable elements (transposons and retrotransposons) are DNA remnants of microbial organisms from our evolutionary past that have been integrated throughout the human genome, the evolutionary equivalent of internet cookies. Perhaps as much as 50% of the human genome is composed of transposable elements. These bits of microbial DNA regularly rearrange themselves within our genomes (thank you Barbara McClintock) during evolution and also within our bodies during our lives, rejiggering DNA sequences and contributing to the development of human diseases such as cancer, hemoglobinopathies, and neurological disorders.

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”

You Are Not Here —>

Matthew Brady’s portrait of Walt Whitman, from the National Portrait Gallery in Washington, DC. https://npg.si.edu/learn/classroom-resource/walt-whitman-civil-war-poet-and-caregiver

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All images, except for the image of Walt Whitman, were AI generated. All of the text was human-generated by me.

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by | September 3, 2025 · 2:27 PM

Why SRY? World Athletics Decides Who Is Female

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 the female 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.

For example, there are some individuals have a 46,XY karyotype and positive SRY test and who you would say were female if you saw them walking down the street or naked in the gym dressing room. Some of these individuals have an intact SRY gene but have a DNA variant in the SRY gene that produces a reduced- or non-functioning protein product. Some of these individuals have an intact SRY gene with no functional variants but have DNA variants in other genes involved in the development of sexual characteristics, such as the MAP3K1, DHH, and NR5A1 genes. Some have no true Y chromosome but have a small portion of a Y chromosome containing the SRY region translocated to another chromosome, usually an X chromosome. Some SRY positive individuals have no apparent genetic explanation for the discrepancy between predicted and observed phenotype.

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:

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Evaluating criteria should be an ongoing process that takes into account the latest advances in genetics, biology, and medicine.
  9. 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.

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by | August 4, 2025 · 2:37 PM

Using Genes to Sell Eujeanics?

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.

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by | May 6, 2025 · 12:48 PM

Eugenics and American Fertility: Now and Then

The trump administration seems to think America has a birth rate that is too low. Basically, the idea is that in this country you just can’t have enough babies born to White middle and upper middle income married couples. Proposed pronatalist measures for increasing the birth rate, many of which are likely to be championed by the trump administration, stand out for their foolishness, ineptitude, and ignorance of human behavior. As a genetic counselor, they are particularly egregious to me because of their origins of in early 20th century eugenics. Not in a vague and general way. No, you can pretty much draw a straight line between now and then, even if trump et al. might deny such a connection. Which, perhaps, they may not.

Many of polices being considered are straight out of the pages of classic eugenic texts; the only difference is the font. Limiting immigration from “undesirable” countries. Portraying immigrants as criminals, social and economic parasites, and taking away jobs from Americans. A National Medal of Motherhood for mothers with 6 or more children echoes the Nazi’s Ehrenkreuz der Deutschen Mutter (Cross of Honor of the German Mother) for mothers of 4, 6, or 8 children (corresponding to bronze, silver, and gold medals). Far-fetched to link trump policies to Nazis you say? Well, j.d. vance and marco rubio have expressed strong support for the German far right Alternative für Deutschland (AfD) political party. Motherhood medals have also been promoted by Jospeh Stalin and Vladimir Putin. You would be keeping good company there, mr. president.

Cross of Honour of the German Mother
(Ehrenkreuz der Deutschen Mutter) Source: https://en.wikipedia.org/wiki/Cross_of_Honour_of_the_German_Mother

Financial and social incentives to induce families to have more children are another set of supposedly fertility-increasing policies with eugenic origins. Baby bonuses, prioritizing transit funding for areas with higher birth rates, tax breaks for families with more children, increased parental leave, and greater financial support for child care may all seem on the surface to be compassionate and supportive of parents and could be endorsed regardless of political ideology. Some version of these policies were also floated by eugenic proponents in the first half of the 20th century.

But underlying these economic policies is a deep sense of White Fear of being replaced by Undesirables. trump defines a family as married heterosexual parents. In 2022, ~ 70% of births occurred outside of marriage among Blacks, 68% among Native Americans, ~53% among Hispanics, ~52% among Hawaiian/Pacific Islanders, and ~27% among Whites (most commonly among lower income White women). These policies would also de facto exclude single parents and LGBQT+ people. This ticks all the boxes on the list of people deemed genetically inferior by eugenicists. Effectively the policies would primarily benefit middle and upper middle income White parents in heterosexual marriages, with a preference for the wife staying at home to raise the children (Not too many husbands would be expected to stay at home to raise all those children; that’s the wife’s job.). Charles Davenport and Harry Laughlin, respectively the director and superintendent of the Eugenics Record Office, would give their blessings to these policies.

A historic precedent that illustrates the contradictions and biases inherent in these economic incentives are found in the history of minimum wage laws. What, you say? Minimum wage laws? What do they have to do with eugenics? And even if these laws have their faults, aren’t they better than no laws at all? Here I base my discussion primarily on a book and an article by the economist T.C. Leonard.

To be clear, non-eugenic factors were involved in establishing minimum wages. But eugenically-minded economists played a critical role in establishing these policies and putting them into practice. Many of America’s leading economists in early 20th century were also strong advocates of eugenics. Edward Ross, an economist at Stanford University* and the University of Wisconsin-Madison, was a proponent of the Race Suicide Theory and strongly opposed immigration, especially from Asia. Harvard economist Irving Fisher** served as president of the Eugenics Research Association, helped found the Race Betterment Foundation, and was on the advisory board of the Eugenics Record Office. Simon Patten, an economist at the Wharton School*** who served as President of the American Economic Association, supported eugenics and “eradication of the vicious and inefficient.”

Source: http://www.eugenicsarchive.org/html/eugenics/static/images/1439.html

For these economists, eugenics was seen as a way to economically support the (White Anglo-Saxon) American worker. They felt that American workers’ jobs and family sizes were threatened by low wages. If workers couldn’t make enough money, they would not be able to support large White families. In the economists’ view, the source of low wages was competition from people who were willing to work for the lowest wages possible (I guess no one thought it conceivable that employers would voluntarily pay workers a decent wage).

Who were these people threatening the American work force and family? Immigrants were one group, primarily people not of Anglo-Saxon ancestry, in much the same way that trump has argued that “illegal immigrants” steal jobs from Americans. These anti-immigrant advocates despised all non-Anglo-saxon races more or less equally, at a time when race was defined differently and included the Italian Race, the Slavic Race, the Chinese Race, the Irish Race, etc. William Z. Ripley, professor of economics at MIT and Columbia University, was the author of The Races of Europe: A Sociological Study, a book that argued that race explained human behavioral and psychological traits, partly the result of heredity and partly the result of cultural upbringing. It was felt that these undesirable immigrants were “racially predisposed” to accepting low wages and living in sub-standard conditions.

Political cartoon from ~1920. Source: https://www.posterazzi.com/anti-immigration-cartoon-of-shows-disembarking-immigrants-heading-for-the-american-cities-as-an-army-of-unemployed-americans-watch-ca-1920-history-item-varevchisl017ec105/

But it was not only immigrants that worried the economists. They also fretted about women (who were supposed to stay at home and raise families rather than compete for jobs), children (these economists tended to support mandatory childhood education and child labor laws because these laws kept kids off the job market and competing with adults), the “shiftless”, the poor, African-Americans, and the “feeble-minded.” If low paying jobs paid at least a living wage supposedly guaranteed by minimum wage laws, then White Anglo-Saxon workers would be willing to accept these jobs and go on to have large families. And if lower paying jobs were filled by White workers, then the “undesirables” would be unemployed and less likely to have larger families or to even migrate to America at all. Voila! America would be saved!! Or so the reasoning went. Spoiler alert: it didn’t really work, despite legislative success. By 1923, 15 states and the District of Columbia had passed minimum wage laws. The federal Fair Labor Standards Act of 1938 established a minimum wage of 25 cents an hour.

Anti-immigration cartoon by W.A. Rogers from 1888. Source: https://www.posterazzi.com/anti-immigrant-cartoon-nimported-duty-free-american-cartoon-by-w-a-rogers-1888-attacking-big-business-for-hiring-immigrants-to-keep-wages-low-and-as-strike-breakers-poster-print-by-granger-collection-item-vargrc0066631/

How one defines a liberal, a conservative, a progressive, a eugenicist, or a critic of eugenics changes over the course of history. Many of these economists were considered Progressives and liberals but none of them would remind you of Paul Krugman, Bernie Sanders, Alexandria Ocasio-Cortez, or Elizabeth Warren. Minimum wage laws, while still controversial but for different reasons, no longer carry eugenic connotations. A number of prominent geneticists who were strong critics of eugenics, such as Ronald Fisher, Herman Muller, and Lancelot Hogben, also strongly supported policies that today we would label eugenic because they called for policies to encourage reproduction among “the most fit.”

Eugenic ideology never really died, even if no society ever died off because of over-breeding by the genetically unfit. Like a zombie, it keeps coming back to haunt us in different forms, separating the world into the genetically superior and the undeserving genetically inferior. Sometimes eugenics comes under the guise of maleficence with intent to harm and sometimes under the guise of beneficence with intent to help society. But whatever its form, it never does any good.

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*- Stanford had an intimate history with eugenics from its founding. Besides Ross, Leland Stanford, Jr., Stanford’s founder, and David Starr Jordan, Stanford’s first president, along with several faculty members up through the 1960s, were ardent eugenics advocates.

** – In a weird historical echo of eugenics and phony-baloney medical beliefs that evoke Secretary of Health and Human Services Robert F. Kennedy, Jr., Fisher’s daughter was treated for schizophrenia by the psychiatrist Henry Cotton, who believed that the cause of schizophrenia was bacterially infected tissue in bodily recesses. Cotton “treated” schizophrenia through various surgical procedures including dental extraction, colectomy, hysterectomy, oophorectomy, cholesytecomy, gastrectomy, and orchiectomy. Fisher’s daughter underwent a partial bowel resection and died of complications from the surgery, one of Cotton’s many unfortunate victims. RFK, Jr., may not exactly be a eugenicist, but his attitudes toward autistic people sure smacks of it. Please, no one let RFK, Jr., know about Cotton’s ideas.

***- In another historical irony, trump earned an economics degree from the Wharton School in 1968.

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by | April 2, 2025 · 7:37 PM

The Genetic Basis For Guidance of The Better America Breeding Initiative to Enhance Society (BABIES): A (Very) White Paper

Authors: Contract employees of the newly-created NIH Division of Genomic Efficiency (NIH-DOGE), the cost-effective replacement NIH Institute for the now defunct National Human Genome Research Institute (NHGRI). The mission of NIH-DOGE is to improve America’s genetic health.

NOTE: This is a satire. I added this disclaimer after I wrote the first draft of this post because, well, it sounded like it could be true.

Introduction and Rationale

America is in a genetic crisis. There are far too many undesirables having far too many babies and voting for Democrats. This represents an extreme threat to the social, economic, religious, and political fabric of our democracy country. Therefore, we propose a program – not to be confused with eugenics – which encourages reproduction among those who can provide the best genetic stock for future generations of Americans. This program is called Better America Breeding Initiative to Enhance Society. This title was chosen because it is consistent with Make America Healthy Again and the like, but also because the acronym is BABIES, and how could anyone oppose a program with such a cute name?

Methods

We utilized the latest techniques of whole genome analysis, including long read sequencing, ancestry analysis, and the indispensable and non-controversial polygenic risk scores to analyze a cross-section of the US population to identify those who should be encouraged to produce the greatest number of offspring within their Christian-sanctioned (limited to certain sects) marriage only.

Exclusion Criteria

Consistent with recent anti-DEI presidential Executive Orders, the following groups were excluded from participation: 

  1. Anyone of The Fairer Sex, also known as females
  2. Anyone claiming to be a sex or gender other than male. It goes without saying that anyone with the prefix trans-  in front of their gender are to be excluded. 
  3. Anyone claiming to be victimized, minoritized, oppressed, or descendants of so-called slaves
  4. Immigrants, documented or otherwise
  5. Anyone who has engaged in sexual activity with members of the same sex. Or anyone who is thought to have engaged in such sexual activity (let’s face it, some people look really gay or lesbian but won’t admit it)
  6. Anyone whose ancestry is not from Northern/Western Europe or a country that places unfair tariffs on American goods. Exceptions can be made for anyone who has made really large donations to support acceptable Republican candidate
  7. Anyone who voted for a Democrat
  8. Anyone who does not attend a Christian church
  9. Canadians illegally residing in the US
  10. Low-income people who are too lazy to work and are leeching off government programs like Medicaid, Medicare, and SNAP
  11. Anyone who has received an mRNA vaccine
  12. Anyone else we decide we don’t want

Results

After applying exclusion criteria, we were left with one participant who met our criteria and who we liked, some guy who lives in, surprisingly, the liberal bastion of San Francisco. We can’t explain this except sometimes that’s how the genetic lottery works.

Even though there was only one participant in our study, we do not believe that this imposes significant limits on generalizability. Secretary of Health and Human Services Kennedy, who is well known for his rigorous scientific mind, agrees with us and states that our program goals are consistent with Make America Healthy Again and therefore should be published.

We will not release the name of the subject, though his Social Security Number and other personal information is available upon request if you ask anyone who works for the other DOGE. Or for a fee.

The subject’s genomic analysis revealed that he carries a few pathogenic variants with the potential to produce serious clinical conditions throughout the lifespan. However, we feel that he has other genetic traits that make him an Ideal Reproducer. For example, his polygenic risk scores showed the genetic potential for an IQ score nearly 7 points above the population mean and a kinda’ low risk for schizophrenia. He has a good sperm count. Most critically, his ancestry analysis indicated 99% inheritance from Scandinavia, Germany, and the good parts of the UK. We don’t think his 1% African-American inheritance should be counted against him. We are open-minded and don’t give credence to the racist One Drop Rule.

Discussion

Anyone whose genetic and social profile matches the Ideal Reproducer should be encouraged to have as many children as possible with their wives, including tax breaks, generous baby bonuses so the wife does not have to be employed, a nice house, and the latest model Tesla. For reproductive purposes, their prospective wives should undergo similar rigorous genetic testing to make sure they are genetically well-matched. Such genetic testing will be free for prospective spouses if they are also identified as Ideal Reproducers. The married couples should also be given full and free access to any Assisted Reproductive Technology, such as IVF, to ensure they fulfill their reproductive potential.

Identifying Ideal Reproducers will increase the number of Productive Americans who will make positive economic and social contribution to society. Combining the BABIES Program with the Avoiding Undesirable Reproduction in America (AURA) Initiative. The AURA Initiative geometrically increases the tax rate of Undesirable Reproducers proportional to the number of children they have. In addition, we recommend that Congress should pass the Access To Genetic Counselors Act, which makes genetic counselors approved Medicare providers, as long as all genetic counselors only participate in the BABIES program to identify Ideal Reproducers. BABIES and AURA together will save America taxpayers trillions of dollars in the next 5 years, eliminate government waste, balance the budget, and allow even more tax breaks for the ultra-wealthy.

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by | March 17, 2025 · 2:28 PM

Potential Implications of The Trump Administration Policies For Genetic Counseling – Part 2: The Impact On Patients

Last week in Part 1 I looked at the potential impact of Trump’s policies on genetic counselors. Here I speculate about their impact on patients. As in my last posting, my analysis is not complete and, so far, mostly speculative because the effects of the policies are only beginning to be felt and Trump flip-flops so frequently that it’s hard to know how permanent they will be.

When that storm comes
Don’t run for cover
Don’t run from the comin’ storm

– Lyrics from “Storm Comin’ ” by Ruth Moody and released in 2011 by The Wailin’ Jennys*

I have often said that every genetic counselor and medical geneticist I have ever met would march into Hell for their patients and take on The Devil himself. Well, welcome to Hades. As bad as Trump’s policies are for genetic counselors and the larger medical, scientific, and research communities, patients are likely to fare far worse. Genetic counselors for the most part “only” have to worry about their jobs. Patients have to worry about their jobs, losing access to healthcare, reproductive healthcare, supplemental income, disease management, and life-saving treatment. As is the unfortunate par for the course, vulnerable populations will suffer the most – women, the poor, people living in rural areas, the elderly, documented and undocumented migrants, children, people with disabilities, LGBQT+ people, non-White people, and disabled veterans. The inhumanity of this is beyond comprehension.

Impact On Access To Health Insurance, Health Care, Social Service and Education

The proposed cutbacks to Medicaid, and perhaps Medicare too, will have the biggest immediate impact on the greatest number of people, particularly those who we see in genetics clinics. Cuts to Medicaid – Congress is proposing a $880 billion cut – would affect ~79,000,000 people. Medicaid also covers about 40% of US births. Medicare provides health insurance coverage for people over 65 and people with certain disabilities, covering about 66 million people. These cuts can reduce patient access to medical care, long term care, community and home-based support services that allow people with disabilities to live and work independently or semi-independently, and resources that help people with disabilities find employment. Another ~7,250,000 children are enrolled in the Children’s Health Insurance Program (CHIP), a low-cost health insurance program for children from families that are poor but but not poor enough to qualify for Medicaid. Overall, nearly half of the enrollees in Medicaid and CHIP combined are children. So children with disabilities or genetic conditions on Medicaid or CHIP may not be coming to your clinics anymore. These cuts can also work at cross-purposes. In states that did not participate in the Medicaid Expansion program, hospitals’ uncompensated medical costs (i.e., charity care) were significantly higher compared to states that took advantage of the expansion.

The claim that there are billions of dollars of Medicaid/Medicare fraud and waste committed by enrollees is blatantly false. The vast majority of fraud is committed by providers, not patients. And work-requirements for Medicaid recipients are laughable and only feed into the myth of a large body of “undeserving poor.” 65% of people on Medicaid work but typically in jobs with low salaries and no health benefits. Those who don’t work do so because they are disabled or ill, are attending school, or are caregivers. The work requirement implemented in Georgia a few years ago resulted in the majority of Medicaid money funneled toward covering administrative costs for the work requirement program rather than needed services for enrollees. If you are serious about saving significant amounts of money in the Medicaid program, go after the providers and the state administrators, not the recipients.

Source: https://ccf.georgetown.edu/2025/01/27/the-truth-about-waste-and-abuse-in-medicaid/

The Department of Education has lost nearly half its work force since Trump took office, with the most recent firings on March 11. Further funding and personnel cuts are likely in the near future, with possible elimination of the department altogether. The Department of Education’s Office of Special Education Programs funds grants to states that then distribute the funds to local school districts. In 2023, this amounted to $18.4 billion in aid. Many children with developmental disabilities rely on state-funded educational intervention programs to help them achieve their full potential.

Immigrants, documented and undocumented, may lose access to Medicaid due to funding cuts and anti-immigration bias. About 50% of undocumented immigrants and about 1 in 5 lawfully resident immigrants lack employer-sponsored health insurance even if they are employed. Not only do they face restrictions and barriers to accessing government-sponsored health insurance, they may not even want to seek health care out of fear of being deported. Oh, for those who say they don’t want their tax dollars going to insure immigrants, in 2023 undocumented immigrants paid about 90 billion dollars in local, state, and Federal taxes. And, if they are legally employed, they pay into Medicare but are not usually eligible to receive Medicare benefits.

LGBQT+ people, who make up about 7-8% of the US population, are less likely to seek medical care. They are also more likely to report chronic health conditions or disabilities compared to non-LGBQT+ people. About 1 in 5 are on Medicaid, so cuts to Medicaid would affect a significant portion of this population. Transgender people in particular are being targeted by the Trump administration. These policies wind up discouraging them from seeking medical care, which is especially concerning given the ongoing medical needs related to being transgender and their higher rate of mental health diagnoses.

Intersex people, who are commonly seen in genetics clinics, have a unique set of health problems and have a high frequency of mental health problems. Trump’s policy of defining sex as either male or female will negatively affect people whose biological makeup does not conform to a binary sex distinction, a distinction based on a total lack of understanding of basic human or animal biology. Intersex people also typically have lower incomes and are more likely to be on government-supported health care.

Why the need to persecute people who are gay or transgender or whoever isn’t cis-heteronormative? Can’t you just let people try to lead their lives and loves in peace and good health, and leave them alone already? Life is hard enough as it is.

From a practical political standpoint, it’s difficult to understand how these moves will help Republicans win votes in future elections at the state and federal levels. Medicaid and Medicare covers over 100 million people of voting age, and another tens of millions of voting age adults are LGBQT+, for a total of well over 100 million voting age adults. In the 2024 election, 155 million people voted altogether. If these groups united behind a presidential candidate who promised not only to restore but expand those benefits, the candidate would win in a true landslide (unlike the landslide victory that Trump keeps claiming, which was actually one of the smaller victory margins since the 19th century). But people often do not vote in their own best interests or just don’t vote at all so it’s hard to know how this will play out in the ballot box.

Impact On Reproductive Healthcare

“I said, ‘Well, I’m going to do it, whether the women like it or not,’” Trump said. “I’m going to protect them.”

The situation is just as dire for access to reproductive health care. As noted above, Medicaid covers about 40% of births in the United States overall, increasing to about 50% of births in rural areas. Medicaid cuts will likely further the closure of hospitals in rural areas, where hospitals depend more on Medicaid funds than in large metropolitan areas. This means that there will be loss of obstetric services in poorer rural areas (and other medical and mental health services too), so women will have to travel further to deliver their babies. Loss of childbirth coverage will likely result in more health problems for mothers and babies, and further contribute to US neonatal and maternal death rates, which is among the highest in the world. The maternal mortality rate is particularly high among Blacks; about 65% of Black women are covered by Medicaid.

Trump takes credit for overturning Roe v. Wade, a ruling which has led to extensive abortion bans around the country. It seems likely that the extent and number of bans will increase over the next few years, backed by support from Mordor The White House. But the administration’s policies extend beyond abortion to birth control and research about maternal health outcomes. Executive Order 14182 signed on January 28 rescinded two of Biden’s Executive Orders, the consequences of which include:

•Dismantling the Interagency Task Force on Reproductive Healthcare Access, which had been established to ensure a whole-of-government response to the crisis

•Stopping federal agency efforts, specifically by the Department of Justice, the Department of Homeland Security, and Federal Trade Commission, to protect patient and provider privacy and security

•Halting agency efforts to enforce anti-discrimination law in response to reports of people being denied emergency abortion care and prescription medication

•Stopping federal agency efforts to ensure individuals receive emergency abortion care as guaranteed by law

•Ceasing efforts to advance abortion access for patients enrolled in Medicaid who must travel for abortion care

•Stopping public education and awareness efforts about access to reproductive health care, including informing people about how to obtain birth control;

•Blocking data collection, research, and analysis in measuring the effect of access to reproductive health care on maternal health outcomes and other health outcomes.

They may as well have put The Taliban in charge of women’s reproductive health care policy.

On its face, Trump’s Executive Order increasing access to IVF appears to be a win for reproductive healthcare since many private insurers provide minimal or no coverage for this service. However, the order only recommends that “Within 90 days of the date of this order, the Assistant to the President for Domestic Policy shall submit to the President a list of policy recommendations on protecting IVF access and aggressively reducing out-of-pocket and health plan costs for IVF treatment.” It lays out no concrete strategy for raising the funds to cover this expansion or forcing insurers to cover it, and makes no mention of coverage for other assisted reproductive technologies (ART). More critically, the Executive Order may wind up limiting access to IVF. Vince Haley, who is the Assistant to the President for Domestic Policy and responsible for creating the recommendations, is a former assistant to Newt Gingrich, a speechwriter for Trump under the supervision of Stephen Miller, who is virulently anti-LBGQT+ and anti-immigrant. Hence Haley’s policy recommendations will likely exclude LGBQT+ people and unmarried heterosexual people from having access to IVF. I wouldn’t be surprised if the policies also exclude immigrants, given Haley’s connection to Stephen Miller, the administration’s emphasis on pronatalist policies, and Trump’s allusions to “white replacement theory.”

Robert F. Kennedy, Jr., the head of the Department of Health and Human Services, has made a career of spreading lies, inaccurate claims, and misinformation about vaccines. His anti-vaccination stance could result in fewer women and chlldren getting the MMR vaccination or the varicella vaccination if they are infection-naive adults. This could in turn lead to an increase in the incidence of congenital rubella syndrome and congenital varicella syndrome. If a mother acquires measles during pregnancy, it could lead to serious consequences including death, pneumonia, miscarriages, stillbirth, prematurity, and low birth weight. And cod liver oil, Kennedy’s preferred treatment for measles, contains high levels of vitamin A, a potent human teratogen.

Impact On Income

Proposed cuts to Social Security could have dire consequences for people with disabilities and their families. Social Security Disability Insurance (SSDI) provides supplemental income to adults and children with disabilities. It is the only federal financial program for this group, and serves only the lowest income families whose children have conditions such as Down syndrome, cerebral palsy, autism, intellectual disability, and blindness. Families receive about $800 a month on average. The families are so poor that even shaving a few dollars off that amount could have profound effects. These cuts are being proposed by the world’s richest man who sells trucks that cost at least $100,000 each and gets free advertising at the White House. Yeah, he’s tuned in to the needs of low income families and people with disabilities.

This image has an empty alt attribute; its file name is image-7.png
Cartoon by RJ Matson, editorial cartoonist at Roll Call, a newspaper covering Congress and Capitol Hill. Source: The Contrarian https://contrarian.substack.com

Impact From Limitations And Cuts To Clinical and Genetic Counseling Research

Funding and personnel cuts at the NIH would be another blow to the care of genetic counselors’ patients. The NIH, and particularly the National Human Genome Research Institute (NHGRI), are key sources of clinical and other research programs focusing on hereditary disorders. In particular, it specializes in people with rare disorders and serve as a resource for the families and their healthcare providers who have nowhere else to turn to. NIH and NHGRI helped establish and maintain the Undiagnosed Diseases Program, which is instrumental in providing diagnoses and care recommendations for people who have been seeking a diagnosis in vain, sometimes for decades. Most of the stunning advances in the treatment and care recommendations for rare genetic diseases are based on research performed at this Institute.

Patients would also be negatively affected by the loss of NIH-funded genetic counseling research that examines the pychological, familial and medical impact of diagnosis, treatment, and management of genetic conditions on patients and their families. The value of cutting edge clinical research would be blunted in the absence of the best way to implement discoveries into the lives of patients so they can get maximal benefit. Any cuts to NHGRI would be keenly felt by patients with genetic conditions.

We cannot be lulled into a sense of powerlessness and inevitability about these policies. We can’t only rant and rave. We need some radical optimism. We need to fight back tooth and nail in small and big ways. We need to encourage our patients and colleagues, at least those who are not vulnerable and deeply threatened by the political climate, to let their government representatives know in no uncertain terms that these policies are unacceptable and that their political futures hinge on sane and compassionate policies. We need our professional organizations – NSGC, ACMG, ASHG – to start collecting data in an organized and coordinated fashion to document specific situations and cases where the policies have negatively affected patient care and the practice of medical genetics and genetic counseling and broadcast it far and wide. Let’s put Hell back where it belongs.

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  • – For some reason, these days I am favoring Canadian musicians. Lots of time listening to the Wailin’ Jennys, Joni Mitchell, Leonard Cohen, Kate and Anna McGarrigle, Rufus Wainright (son of Kate McGarrigle), Neil Young, Alanis Morisette, Drake…. I could go on but I don’t want to sound too Tragically Hip. You can take Joni’s line from Big Yellow Taxi and apply it to democracy “Don’t it always seem to go that you don’t know what you’ve got ’til it’s gone?”

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by | March 10, 2025 · 1:56 PM

Potential Implications of The Trump Administration Policies For Genetic Counseling – Part 1: The Impact on Genetic Counselors

This is a two part blogpost. Part 1 focuses on the impact of Trump’s policies on genetic counselors. Part 2, which I plan to post next week, will focus on the impact on patients.

When everyone is up front and they’re not playing tricks
When you don’t have no freeloaders out to get their kicks
When it’s nobody’s business the way that you want to live
Oh my mama told me
There’ll be days like this
(From “Days Like This” by Van Morrison, 1995; not to be confused with the delightful Shirelles 1961 song with a similar name)

Many genetic counselors are zombie-shocked over the cruel, thoughtless, and harmful policies of Donald Trump (Pronouns: I!/ME!/MINE!). Genetic counselors hold a broad range of political beliefs but most tend to lean left. But liberal and ultra-conservative genetic counselors share a common set of values around patient care, as embodied in our Code of Ethics, re-enforced during our training, and laid out in our textbooks. So even if you support some of Trump’s non-medical policies, surely there should be near universal condemnation, or at the very least concern, over the implications of Trump’s policies for our profession and our patients.

Much of what I discuss below is speculation on what may happen and is not meant to be an exhaustive analysis. The policies are for the most part new and are only starting to impact medical care. Some are working their way through the court system but it remains to be seen how the rulings will turn out and if the Administration will ignore them. Also, the policies tend to change with, as far as I can tell, the direction of the wind (see tariffs). Hopefully, my speculation and predictions will not fully pan out.

First off, the employment of many genetic counselors is at stake. Genetic counselors who work at the National Institutes of Health (NIH) or the Department of Veterans Affairs or other federal agencies such as the military may have their positions may be eliminated by the reckless DOGE budget cutting antics (putting Musk in charge is like hiring Moe, Larry, and Curly to make your car run more efficiently. Man, wouldn’t you like to take a wrench to his nose). In addition, the salaries of some genetic counselors

engaged in research are fully or partially funded by federal government grants. With the cancellation of research proposals that address DEI in any way shape or form – even if DEI is only mentioned in the proposal – or allude to any of the many other topics that get Donald’s knickers in a twist, funding for these positions may be lost. The employment effects may be further worsened as Trump targets federal funding for universities that don’t conform to his distorted view of the world, such as the recent canceling of $400 million in federal funds allocated to Columbia University under the guise of concern for harassment of Jewish students on campus. The safety of students is a serious concern to be sure, but cutting off funding is just an attempt to stick it to a “woke” university. All this at a time when the job market for genetic counselors is less than ideal.

The underlying economics of genetic counseling services will likely hinge on genetic counselors becoming covered providers under Medicare. The National Society of Genetic Counselors (NSGC) has been working for over a decade to achieve this goal, which seems to be frustratingly closer but not quite there every year. As I noted in a previous post, should the Access to Genetic Counselor Services Act actually come up for a vote in Congress, congressional members may reject it because of NSGC’s DEI policies, as clearly articulated in its gender-first pedigree nomenclature Practice Resource. The profession may miss out on becoming Medicare-covered providers because we are trying to be decent human beings who respect the dignity of our patients.

Trump’s policies on limiting the funding NIH research has the potential to impact the types of research that genetic counselors can engage in or benefit from, especially if some aspect of DEI is involved. The net effect will be delivering sub-standard and unresearched care to some of our most vulnerable patients. Here are the NIH research funding guidelines, as outlined in a recent NIH memo:

Category 1 – The sole purpose of the project or conference is DEI-related – WILL NOT FUND
Category 2 – Projects or conference that partially supports DEI activities – WILL FUND ONLY IF THE DEI ACTIVITIES ARE ANCILLLARY TO THE PURPOSE OF THE PROJECT AND ARE ELIMINATED FROM THE GRANT
Category 3 – Project or conference that does not support DEI activities but may contain language related to DEI – WILL FUND ONLY IF DEI LANGUAGE IS REMOVED
Category 4 – Project or conference that does not support any DEI activities – CAN BE FUNDED.

And here are the justifications for these guidelines, from an appendix to the same memo:

DEI: “Research programs based primarily on artificial and non-scientific categories, including amorphous equity objectives, are anti-thetical to scientific inquiry, do nothing to expand our knowledge of living systems, provide low returns on investment and ultimately do not enhance health, lengthen life, or reduce illness. Worse, so-called diversity, equity, and inclusion studies are often used to support unlawful discrimination on the basis of race and other protected characteristics, which harm the health of Americans.”
Transgender issues: “Research programs based on gender identity are often unscientific, have little identifiable return on investment, and do nothing to enhance the health of many Americans. Many such studies ignore, rather than seriously examine, biological realities.”

How much does the Republican Party hate LBGQT+ people? During the 2024 campaign, it spent one quarter of a billion dollars on anti-transgender and anti-LBBQT+ advertising. This is a policy of pure hate and part of the attempt to legislate LGBQT+ people out of existence. Call it administrative genocide.

Trump’s policies also have direct bearing on how genetic counselors document patient encounters in the medical record. Being identified as transgender or non-cisgender or non-heterosexual places patients in a very vulnerable position. Once could easily imagine the government obtaining a warrant or whatever legal document to obtain the medical records of any of our patients; HIPAA guidelines allow healthcare providers to release records without patient permission “as required by law (including court orders, court-ordered warrants, subpoenas) and administrative requests.” An Executive Order signed on January 28, among other horrible things, proclaims that it “Stops federal agency efforts, specifically by the Department of Justice, the Department of Homeland Security, and Federal Trade Commission, to protect patient and provider privacy and security.” Now imagine if a patient had gender-affirming care in a state where it is banned. This puts genetic counselors in a very difficult position. On the one hand, knowing if a person is transgender or non-heterosexual can be important for their healthcare guidance and genetic counseling. On the other hand, documenting that information in the medical record can potentially bring great harm to patients. This is going to require some awfully complex and sensitive discussions with patients. But mostly it will probably just discourage them from seeking medical care. Think I am exaggerating? Well, recall that in 2023, Tennessee’s Attorney General forced Vanderbilt University Medical Center to hand over the medical records of their transgender patients.

This same dilemma holds true for documenting the medical, reproductive and family histories of patients who have undergone a termination of a pregnancy, particularly in states with strict anti-abortion laws. The patient or the provider who performed the abortion could face jail time.

Trumpian attempts to remove “unacceptable” DEI language from federal government discourse and to force federal agencies to modify the information they provide to conform with the president’s views and policies threatens the utility or even the very existence of some of the reference tools and research projects that genetic counselors rely on every day. If we can no longer believe a word that comes out of the mouth of the president or his representatives, and if his policies affect what can be said by government agencies, how are we to trust the content of PubMed, ClinVar, ClinGen, the Morbidity and Mortality Weekly Report and other CDC publications, etc.? What will become of the Metropolitan Atlanta Congenital Defects Program, which was established in 1967 by CDC to monitor the incidence of congenital conditions in the Atlanta area or the National Birth Defects Prevention Network, which maintains a national network of surveillance of congenital conditions? What will be the fate of the International Clearinghouse for Birth Defects Surveillance, a CDC-sponsored program which brings together birth defects monitoring programs from around the world? Maybe the DOGE apparatchiks, in all their glorious ignorance and hubris, will just eliminate them altogether.

Trump’s policies could threaten the safety of some genetic counselors in their workspaces. They may now feel physically and psychologically unsafe at work, particularly those who are not White or heteronormative. They don’t know if their employers will protect them or fire them. Co-workers may blame them for budget cuts that result from decreased federal funding or accuse them of being “DEI hires.” They may be concerned that patients will feel free to harass, criticize, abuse them, or even report them to “the authorities.”

Genetic counseling has a history embedded in eugenics, a history that the profession has tried to disentangle itself from. Here we are again, having to confront the specter of eugenics in our midst. In another chapter from the book titled “We Don’t Learn Any Lessons From History,” the policies and rhetoric of Trump et al. channel the spirit of the Eugenics Record Office. Republican labeling of immigrants as rapists, thieves, genetically inferior, and of low intelligence is the exact same language employed by early 20th century eugenicists to describe, among others, Italian and Eastern European immigrants “flooding” the country (incidentally, my grandfathers were born in Italy and Poland but managed to arrive before the 1924 Johson-Reed Act put extreme limits on the number of immigrants allowed from those countries). Ultra-conservative eugenicists, such as Madison Grant in his 1916 book The Passing of the Great Race, stoked fears of “White Replacement” whereby Northern and Western European American stock would be replaced by large numbers of undesirable immigrants and their many offspring (at the time, Southern and Eastern Europeans were considered a separate race from people of Anglo-Saxons and Scandinavians). So too do Trump, Musk and their ilk seek to limit immigration, deport immigrants, and push pronatalist policies that encourage “native-born Americans” to have more children.

“Leave now. If you don’t, we will find you and we will deport you. You will never return.”
Kristi Noem, Secretary of Homeland Security, from a TV commercial threatening immigrants
“Give me your tired, your poor,
Your huddled masses yearning to breathe free,
The wretched refuse of your teeming shore.
Send these, the homeless, tempest-tost to me,
I lift my lamp beside the golden door!”
 – Emma Lazarus, The New Colossus

I have heard grumbling from some genetic counselors that they are upset by the lack of a strong voice and policy action from NSGC. They want to know just where their professional organization stands on these issues and how it will support its members and the patients they serve during these tumultuous times. NSGC claims to be committed to DEI issues, and this is a test of the organization’s sincerity and willingness to fight for their principles. The grumbling genetic counselors may have a point.

On the left is a political cartoon from 1903; on the right is a political cartoon from The Chattanooga Times from 2010.

Of course, all these policies and Executive Orders affect the care genetic counselors can provide to our patients, who will suffer the most. I will take up the topic of the impact on patients in the next week or so in Part 2.

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This Friday, March 14th at 4 PM EST, several genetic counselors are independently organizing a mutual support zoom call for genetic counselors to share in a safe and supportive space their stress, anger, frustration, views, anxieties and whatever other emotions they are experiencing as a result of the Trump insanity. If you are interested in attending (no participation required), contact Jehannine (J9) Austin (jehannine.austin@ubc.edu) or Kate Wilson (kate.genetics@gmail.com) or if you are on BlueSky, Naomi Wagner (@naomi-cgc-bsky.social).

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In a previous posting I suggested some actions and organizations that genetic counselors can consider doing or joining if they feel the need to fight back in some way. Jill Fonda Allen has since offered one other organization to consider getting involved with – Indivisible, which, per their website is “a grassroots movement of thousands of local Indivisible groups with a mission to elect progressive leaders, rebuild our democracy, and defeat the Trump agenda.” Thank you, Jill.

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by | February 14, 2025 · 7:41 PM

What Can Genetic Counselors Do About The Rot, Corruption, and Hate At The Core of the Trump Administration?

Let me start by saying that I am not sure yet about what genetic counselors should be doing to fight the racist, vile, despicable, UnChristian/unMuslim/unJewish/unEvery Other Religion-In-The-World policies, actions, and statements of the Trump administration. I do know that we should not be cowering quietly in the corner, overwhelmed by the crap coming out of the bowels of (F)Elon Musk and PINO Trump (President In Name Only) in peristaltic waves. I have been thinking about this for a while and don’t have any really good answers, other than praying for debilitating strokes for those at the top (?bottom?). But I offer some thoughts and suggestions here. Some may be useless or impractical or simply not do-able.

In no particular order, consider these ideas, big and small, both on an individual level and on an organizational level:

  1. Download the 5 Calls app. The group behind this app “research[es] issues, write scripts that clearly articulate a progressive position, figure out the most influential decision-makers, and collect phone numbers for their offices. All you have to do is call.” It provides phone numbers of senators and representatives along with a script about specific topics to read when you leave a voice mail. Calling is probably the most effective way to communicate with your government representatives, more so than letters, postcards, and emails.
  2. Offer individual safe spaces – in person, phone, email, zoom, whatever – for colleagues to confidentially share their anxieties, fears, anger, and other emotions. Sometimes you just need to decompress, so, when appropriate, share comfort food and wine/whisky/beer/cannabis (where legal).
  3. Encourage our professional organizations (NSGC, ASHG, ACMG, and whatever other organizations you belong to) to take a principled stand and boldly and clearly reaffirm their commitment to diversity, equity, and inclusion. Yes, it’s only a statement, and those may not add up to a hill of beans, but at least membership knows where their organizations stand, and offers something concrete to hold them accountable for.
  4. Our professional organizations have lobbyists. Can their services be utilized to lobby representatives?
  5. Our organizations also employ lawyers. Can they guide NSGC et al. to sign on as plaintiffs in relevant law suits against the government, where they might have some legal standing to file, such as those that might involve NIH funding or care of transgender patients? Or at least file amicus briefs?
  6. Can NSGC et al. provide safe spaces, something as simple as zoom chats or webinars, where members simply get the opportunity to share their fears and anxieties, and keep us directly up to date on what actions they are taking? Can participants be anonymized if they so choose, if they are worried about their personal safety?
  7. Have our organizations adopt as their temporary motto in bold capitals on their websites “Fuck Trump and Musk”? Okay, well, maybe that’s a bridge too far. But it would be really cool.
  8. Take to the streets in peaceful massive protests. I do not condone violence of any sort, other than in self-defense. This may involve risking your personal safety, as some Pro-Trumpers now assume they have the clearance to bust a few heads, free from legal sanction. And one could easily imagine the federal government pressuring local law enforcement to deal severely with protesters.
  9. Run for local offices – school boards, town/city councils, whatever – to formulate and fight for respectful, democratic, and decency-affirming policies.
  10. Volunteer for organizations that work to do good in the world.
  11. Write blogposts, letters to the editor, editorials, whatever media, decrying the inhumanity and ignorance of the government’s actions. Use your genetic counseling communication skills that we are alw
  12. Don’t let the bastards get the best of you. Fight’em tooth and nail. Proudly wear our Woke buttons (“I’m Woke – Are You Asleep?”).
  13. If it is financially feasible, donate to organizations that are fighting the good fight.
  14. Event though we don our costumes and capes at work and play Super Heroes fighting for our patients, and even though there are some Marvel Universe villains running the governmental show, remember that each and every one of us is just a human being. Don’t take the weight of the world on your shoulders alone, and don’t emotionally whip yourself if you feel overwhelmed or temporarily defeated. Even The Incredible Hulk has a human core.

I encourage readers to suggest more. We need to do this for ourselves, our colleagues, our patients, and our country. Those genetic counselors who feel vulnerable in their lives and jobs are given a pass here. It’s up to the rest of us to take care of all of us.

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by | January 29, 2025 · 7:12 PM

Will The Updated NSGC Pedigree Nomenclature Guidelines Sink The Effort To Obtain Medicare Coverage For Genetic Counselors?

Back on January 20th, American democracy and decency began to swalllow a poison pill of its own electoral making. The fallout has been all kinds of horrible, nationally and internationally, except in Moscow where Putin is having a belly laugh because America is doing his dirty work by destroying itself. The US Constitution is being shredded. People who are transgender, gay, non-White, and all the other non-majority varieties of American demographics feel that their very lives are threatened. The employment of every “DEI hire” (racist code word for Black) is on the chopping block. Many of our patients may lose access to health care through Medicaid funding cuts, fear of being deported, or prohibitions of basic medical care for transgender people. We are looking at the potential destruction of the NIH, one of the world’s great research institutions. Genetic counselors employed by the federal government or on government grants may either lose their jobs or be forced to work in an ethically intolerable environment. The terrifying list goes on and on. The over-arching hateful personal message of these policies is “If you ain’t cis-hetero-White, you ain’t right.”

I have nothing original to add to what has already been better said by others about these matters.* Here I want to focus on the implications of the Updated NSGC Guidelines on Pedigree Nomenclature for the passage of the Access To Genetic Counselor Services Act (I am one of the authors of those pedigree guidelines, and incidentally, a minor revision of some of the Tables will soon be published). A small matter in the great scheme of things, but of particular salience to the future of the genetic counseling profession. The financial survival of clinical genetic counselors in the US hinges on being recognized as Medicare providers. This effort has been ongoing for some 20 frustrating years or so but over the last few years we’ve started getting closer to success, fingers crossed.

So why should the new pedigree nomenclature crash those hopes? After all, they are just a bunch of geometric shapes. But we have given meaning to those shapes, meaning which directly clashes with the Executive Edict, er, I mean Order “DEFENDING WOMEN FROM GENDER IDEOLOGY EXTREMISM AND RESTORING BIOLOGICAL TRUTH TO THE FEDERAL GOVERNMENT,” that, based on ignorance and hate, defines sex as follows: “(d) “Female” means a person belonging, at conception, to the sex that produces the large reproductive cell. “Male” means a person belonging, at conception, to the sex that produces the small reproductive cell.” Well, I guess that those of us who were lucky enough to be born with “reproductive cells” are going to have to line up and start getting those reproductive cells measured and compared. I wonder which cells they are going to measure – Sertoli cells? Leydig cells? Spermatids? Uterine cells? Luminal epithelial cells of the uterus? Ovarian thecal cells? All are necessary for reproduction, and all of different sizes. Of course, at conception, no one has any of those cells so I have no idea what these criteria mean. And sex can be categorized by chromosomes, genes, anatomy, or hormonal profiles, all biologically plausible criteria but not uncommonly incongruent.

The head of the US government has made it clear that any definition of sex that, uhh, deviates from this definition is the product of “Woke” ideology and DEI policies (I really don’t know what constitutes Woke ideology – compassion? decency? the teachings of Christ? – but I reckon it’s better than Sleepy ideology). Anyone or any organization that supports Woke ideology is an enemy of the state and will not be tolerated. The pedigree nomenclature, by emphasizing the importance of gender and the subtle shadings of biological sex, is diametrically opposed to US government policy. All the more reason to support the nomenclature, I say.

But what happens if the Access to Genetic Counselor Services Act actually comes up for a vote before Congress? Well, perhaps the most publicly available product of the genetic counseling profession is the pedigree nomenclature. Sure, within the NSGC itself, there are all kinds of policies and initiatives that support DEI, programs that have been met with varying degrees of success and frustration. By and large those are internal, and not openly available to non-members. But as an Open Access article, the pedigree nomenclature is widely available to anyone with Internet access and the nomenclature is the standard for most genetics journals, not just the Journal of Genetic Counseling. More tellingly, the simplicity of those symbols that allows them to effectively communicate complex information also allows them to clearly communicate just how much they contravene the Trumpian concepts of sex and gender, even to someone who has minimal grasp of human biology. I can imagine an NSGC President testifying before Congress about the bill and being asked “So, Current NSGC President, in your organization’s sanctioned pedigree guidelines, I see squares and circles and common sense tells me that those are males and females, respectively. Can you tell me what this diamond symbol is? And what are those funny abbreviations like AFAB mean beneath some of the symbols? Are genetic counselors using geometric symbols to secretly support Woke DEI propaganda? The US government does not support an organization that does not preach biological truth!”

I am not saying that we should publicly reject or downplay the Pedigree Nomenclature Guidelines or NSGC’s DEIJ initiatives. To do so would be an act of moral cowardice, a betrayal of our colleagues and patients, and just plain wrong. We need to fight like hell for them, even if we have to pay a steep professional price. There are more important things in life than Medicare coverage.

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*- For those looking for voices of political sanity, I recommend considering subscribing to The Contrarian Substack (comprised of former Washington Post reporters, among others), The American Prospect, and Paul Krugman’s Substack.

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by | January 8, 2025 · 1:54 PM

Decisions, Decision, Decisions

Should I stay or should I go now?
If I go there will be trouble
And if I stay it will be double
– From The Clash’s “Should I Stay or Should I Go?“

Working with patients as they make decisions is one of the core components of genetic counseling. It’s not the only thing genetic counselors do, but we sure do it a lot. Some of these decisions are relatively minor while others can be life-changing, irreversible, and have life and death implications. When the decision does not call for an immediate choice, the patient has some breathing room to weigh the situation and work through the cognitive and psychological issues. In other circumstances, there is the added complication of a time-critical decision that must be made within days or hours. But either way, no matter how much we educate, engage, reciprocally engage, or center the patient, making decisions can be gut-wrenchingly difficult.

All genetic counselors have dealt with this in some way. Should I have a cfDNA prenatal screen? Just for aneuploidy or include some of the microdeletions too? If it’s positive, should I have an amnio? I really want that germline breast cancer panel but those results can be awfully scary, or maybe worse, ambiguous. Should I have a unilateral or bilateral mastectomy? Should I subject my child to a new but unproven treatment for a genetic condition when that treatment may have serious side effects and may not even be effective? Should I let my asymptomatic child who carries a low penetrant pathogenic variant for a hereditary cardiomyopathy participate in high intensity sports like crew or kayaking so they can have as normal a childhood as possible?

The genetic counseling literature often talks about informed choices. But after about the first genetic counseling session in your career, you quickly realize that choices involve a lot more than just informing. Complex emotional and psychological matters come in to play as patients process the information and try to figure out what the different options might mean for them, their families, their emotional states, their finances, and their psychological adaptation to their post-decision lives. It’s not simply a matter of weighing pros and cons. It’s more like trying to piece together a jigsaw puzzle when you don’t have a box cover to tell you what the completed puzzle should look like and you only have a limited time to do it in. How do all these damned pieces fit together to create a coherent picture?

The hardest part is that patients just about never know if a decision is good or bad until after they’ve made it. Sure, sometimes (maybe most of the time? I don’t know), decisions turn out to be the “right” one. But there is no way that patients or genetic counselors can predict the future and reassure one another that the particular patient choice will turn out to be for the best, or at least not for the worst. There are just too many unknowns and unknowables. We think we know ourselves but then we are faced with a new reality and suddenly we don’t know ourselves so well. I didn’t think that early menopause would be this bad. I believed I could terminate a pregnancy if I thought the baby had a profoundly serious condition, but now that I know it, I’m not so sure I can go through with a termination. After having watched our mother die of ovarian cancer and supporting me through my breast cancer treatment and decision about having genetic testing, I was sure my two sisters would be relieved to have the genetic information so they could learn their own risks and act accordingly to reduce their risks. Instead they have gone into a psychological tailspin and one of them isn’t even talking to me anymore.

Then there is the matter of people and their values changing over time. This can alter perspectives on whether a decision made years ago was for the best. For example, a patient might have been an atheist but as they’ve gotten older, they’ve found great comfort in Christianity or Islam or whatever faith and now their views are guided by religious beliefs. Or conversely, deeply religious people may lose their faith after witnessing so much cruelty and senseless suffering in the world. A 30 year old may have been dead set against having children and decided to undergo sapling-oophorectomy to reduce their cancer risks but afterwards has a change of heart and regrets having lost the ability to become pregnant. Someone may have been a staunch supporter of abortion for themselves and others but their personal ethics and philosophy have changed over time and they are wracked with guilt because they now feel that abortion is morally wrong.

Unpredictable externalities may also influence how people come to view their decisions over time. Someone might choose an expensive but unproven lifelong treatment for themselves or their children but then lose their job and their health insurance, leading to deep medical debt and perhaps loss of housing, and to top it off, the medical condition has only worsened over time. Someone reluctantly undergoes genetic testing for Huntington disease to establish the risks for their two siblings, and though the patient thinks it was a bad emotional decision for personal reasons, they take comfort in learning that their siblings do not carry the pathogenic triplet repeat expansion. Shortly thereafter, both siblings die in a pandemic after having refused a vaccination. A woman undergoes a risk-reducing saplingo-oophorectomy but winds up with serious and life-threatening post-operative complications.

I’m not trying to push the pessimitic and unhelpful message to patients that they should just give up and flip a coin or turn to a tarot reading because it is impossible to make good decisions. Instead, we need to help them understand that often there may not be a clear-cut best choice at the time they are making the decision. And genetic counselors should feel free to constructively criticize and explore a patient’s choice if it shows they clearly did not understand the underlying technical information or it does not seem to align with their values, while doing our best to filter our our own biases and counter-transference issues. Patients need to recognize that over time they may change their view of whether their decision was the right one or the wrong one or some mix of the two. They don’t have too much control over the future. But we can help them understand that they have done everything they could to make the best possible decision at that time They are decent, compassionate human beings who are just trying to do the best they can in a very complicated world.

Beyond the genetic counseling sphere, the difficulties of decision making arise in all of our everyday lives. Should I take this job or that job? Is this the best person to hire for the job (I swear that, despite all the interviews and glowing letters of recommendation, you never know what somebody is like as a co-worker until you’ve worked with them)? Should I buy this house or that house? Is this the person I want to marry? Are we at the point where divorce is the best option? Should I attend college or learn a trade and become a plumber or an electrician? Should I stay at home to raise my children or continue working and somehow manage to pay for child care? We can’t know the answers to these questions. We can only do our best and not kick ourselves when life doesn’t turn out as we thought it might.

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