Tag Archives: science

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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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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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.”

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.

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.

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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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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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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