Tag Archives: genetics vocabulary

Euphemisms, Chucklers, Pet Peeves, And Wincers: Thoughts On Our Professional Vocabulary

Words are the clothes thoughts wear.

– Samuel Beckett

I struggle with words. I struggle when I counsel patients to find just the right words to explain genetic complexity while also trying to engage them in a counseling relationship. I sometimes catch myself silently groaning at the stream of what sounds like the absolutely wrong choice of words pouring out of my mouth. I wind up feeling like the voice of the parents in those Charlie Brown cartoon specials; just Wah-Wah-Wah, nonsense utterances that have no meaning or relevance to the central characters. I struggle to understand the psychological meaning of the words patients use to express their thoughts, fears, anxieties, understandings, and misunderstandings. I agonize over these blog postings, repeatedly re-working them until they have the right tone and tenor but still I always feel slightly dissatisfied with some detail of the never-quite-finished product. A close friend says that for him the wrong word is like a flat note in a musical composition. One jarring note and it takes a while for your ear to re-adjust.

So yes, I confess that I am overly obsessed with words. It is yet one more of those Devil-and-Angel aspects of my personality. Good and bad must co-exist else neither exists at all. That obsession is the impetus for this blog posting – exploring the deeper meanings, ramifications, and implications of the vocabulary of genetics, medicine, and reproduction.

I start with words that make me wince. I have previously written about products of conception, habitual aborter, and mutant. Let me add incompetent cervix and birth defect to that list. Even though these words are not used with dark intent, they say a lot about underlying unconscious attitudes and biases. Incompetent cervix is clearly a term created by men for women. Would a man who has difficulty attaining or maintaining an erection ever be said to have an incompetent penis? Birth defect is no better, though in all honesty I catch myself using it from time to time. Just another malfunctioning piece of machinery, a mistake, a reject, an inferior product of conception. And don’t get me started on crack babies. These are all judgmental and harmful words, weaponized to induce blame, shame, and guilt.

In some contexts, benign words can be manipulative, such as high risk. Every patient has a unique and flexible definition of high. But when professionals say high risk it can create a disproportional sense of worry and anxiety. For example, it is often said women 35 and older are at high risk of having a baby with Down syndrome. You can try to soften that by saying higher but the patient mostly hears the high part of that word. In fact, though, the chance that a 38-year-old woman will not have a baby with an aneuploidy is 99%. Those are pretty good odds in my book. But the presumably unconscious and unstated attitude of health care providers is that aneuploidy is an unacceptable outcome – a risk, not a probability – when they show a woman a graph or table displaying age related odds without an objective reference point to put the numbers in context. That is a lot scarier than reframing it as barely 1%, as well as sounding like an unstated scolding – “Well, if you hadn’t waited so long to have a baby, you wouldn’t have this problem.”

Some words are euphemisms. Family balancing – using reproductive technologies to choose the sex of a baby for non-medical reasons – comes to mind. It is fine and normal to want a baby of a particular gender. There are also different cultural imperatives and norms, and complicated psychological reasons why a particular gender is strongly desired.Calling it balancing glosses over the darker implications of reinforcing, and profiting from, sexism. And it implies that a family of all girls, all boys, or varying gender mixes might be out of balance.

Family balancing is a cousin to gender swaying. At first I honestly thought it referred to someone like David Bowie who seemed to fluidly float along the gender spectrum. As I have come to learn, gender swaying describes the practice of trying to increase the odds of having a baby of a particular gender by using folk methods and pseudoscientific techniques, like ovulation timing, cervical PH, and, my personal favorite, positive and negative ions in the air that can be affected by artificial lighting (just why would artificial lighting be found, uh, “down there”?). Somehow it seems more ethically innocuous than family balancing, maybe because the success rate is usually not statistically significantly greater than 50%. But family balancing and gender swaying are on the same moral spectrum. Another euphemistic term is fetal reduction, which neutrally smooths over the rougher ethical edges when a medical procedure transforms a quadruplet pregnancy into a twin pregnancy.

In genetic counseling, we try to reciprocally engage our patients to make the experience more counseling than lecturing. But there is still an underlying power dynamic that can sneak between the cracks and that can remind the patient who is in charge. An example is when we say that we take a family history. Although it is not how we intend to use the word, taking implies that I have the power to assume ownership of story that belongs to the patient, a story that is deeply personal. And by taking it, I now own this intimate knowledge and transform it into something that I reframe into a medical context that gives me power by “interpreting” it for the patient. The message can be “I know what you think about your family history, but let me tell you what it really means.” Perhaps too this power differential  underlies some of the unease many genetic counselors have about Direct To Consumer genetic testing – it diminishes our gatekeeper role of controlling access to genetic testing.

Along those lines, think of the power relationship implied by medical consultation notes that state that the patient denies a family history of genetic disease or drug use or certain symptoms. Denies? Like they are suspected of lying or a criminal activity, and I am the Grand Inquisitor trying to drag the truth out of them? Were these patients ever expecting the Spanish Inquisition?

Not all of my vocabulary pondering is dark. Some reflect my personal pet peeves on usage. I am not a Language Fascist who tries to enforce arbitrary grammatical rules because, dammit, that’s the right way. On the contrary, I love language for its variety, constant evolution, playfulness, and wonderfully creative adaptability. But a few words rub me the wrong way. Pre-existing condition is an ear-sore for me. How can something be pre- to existing? Either something exists or it doesn’t. They are existing conditions. Of course, this mild upset is nothing compared to the outrage I feel at the pig-headed, uninformed, downright nasty views about pre-existing conditions expressed by the President of the United States and his lackey Director of the Office of Management and Budget, they who are too shameful to be named. Now there’s a pair of bad hombres you’d love to rope with Wonder Woman’s Lasso of Truth. Another “earitation” is when someone writes “The patient was told to return in 3 weeks time.” In that sentence, the word time belongs in the Department of Redundancy Department; the same information is communicated if the word is omitted. For my internal ear, it is a jarring note.

Another, perhaps more justifiable, pet peeve is when an author or speaker says something along the lines of “there was a 500% reduction in disease occurrence following this intervention” or “a five fold reduction in occurrence.” Sorry, just flat out impossible. Nothing can be reduced by more than 100% or 1 fold. After that, it ceases to exist (unless of course it were pre-existing) or it becomes an imaginary number*. If the number of cases of a disease decreases from 500 patients to 100 patients, that is an 80% reduction. Or there are one fifth of the number of cases that occurred prior to the intervention. And I don’t believe I am being a kvetcher here. Accuracy in statistical analysis and interpretation is at the very core of the scientific process and discourse, so it is critical to use the right words to describe research results.

There are some words that make me smile when I hear them, such as Captain Underpants’ arch-nemesis Professor Pippy Pee-Pee Poopypants or HMS Boaty McBoatface (okay, they have nothing to do with genetic counseling but even if your inner mind is not permanently mired like mine in the 8 year old boy phase, these names make you chuckle). Similarly, I smile when I hear surgeons describe large breasts as generous. How nice that someone has generous breasts! It almost sounds like a description of a wet nurse. A long time favorite is Instant Baby Formula, which I first encountered 45 years ago when I was a stock clerk at a Brooklyn grocery store. Just add water, and Voila! You have a baby. What could be simpler? None of the icky bother of 9 months of pregnancy or the agonies of labor.

I would love to hear from the Good Readers of The DNA Exchange about their thoughts on the vocabulary of genetics and medicine. What in our professional lexicon makes you irritated, raises your moral hackles, induces euphemistic groans, or you just enjoy? Given the widespread employment of genetic  counselors in laboratories, is there some new Lab Vocab starting to emerge?

As Raymond Carver once wrote in a NY Times piece, “That’s all we have, finally, the words, and they better be the right ones.” So let us make sure we think carefully about them, choose and use them wisely, never weaponize them, and remember to enjoy them.

  • – Yes, I know that this is not technically an imaginary number. I am just employing poetic license.


Filed under Robert Resta

Sense, Missense, and Nonsense: A Word Nerd’s Freewheeling Take On The Vocabulary of Genetics

I proudly admit to being a Word Nerd, a hound who sniffs a trail on a random dictionary page for the sheer pleasure of flushing out obscure words. Today’s finds were haček, hachure, and hackbut. So let me combine two of my passions – words and genetic counseling – and share a few irreverently serious thoughts on some selections from the genetics lexicon.

Genetic Counselor –This professional title is just plain wrong. We should more properly be called genetics counselors, i.e., those who counsel about genetics.  The s-less form gives the impression that being a counselor is the result of a hereditary predisposition towards counseling (“I’m sorry,” she said to the patient after an overly long counseling session, “Sometimes I can’t stop myself from counseling. It must be genetic.”). A health professional who counsels about diabetes is called a diabetes counselor, not a diabetic counselor. Unless of course you were describing a counselor who happens to have diabetes.  Hey NSGC – time for you to take the lead on this one and change the name of our profession, though I shudder to think of the impact on the fine print of those state licensure laws.

Chimaera vs. Chimera. I prefer the  “ae” spelling because “ae” words are uncommon in American English and its occurrence in the middle of the word makes it look like a hybrid word, just as a chimaera is a rare and unusual genetic hybrid. The word comes from the mythological fire-breathing female creature said to be the product of an incestuous union and is an anatomic pastiche of a lion, a goat, and a serpent. It is derived from the Greek khimaira, a year old she-goat. Its earliest use in English, in the 16th century, meant “wild fantasy.” The chimaera fish is a member of the Chimaeridae, a class of cartilaginous fishes. Given these connotations, the term is insensitive and evokes a sideshow spectacle. If I were someone who were chimaeric, I would lobby for a new designation for this phenomenon when it occurs in humans.

Meiosis/Mitosis. It is blatantly unfair and inconsiderate that two words that describe processes broadly similar in outline but critically different in detail and outcome should have easily confused names. When I learned about cellular division, I resorted to the mnemonic “Meiosis has an ‘e’, and ‘e’ is the first letter in egg; thus, eggs undergo meiosis, not mitosis.”  It also helps to know that meiosis comes from the Greek word for “lessening,” reflecting its characteristic reduction division (though during mitosis the amount of DNA doubles from 2N to 4N and then reduces to 2N…Oh, never mind). The great 19th century German biologist Walther Flemming coined mitosis after his observations of the dividing gill and fin cells of a salamander. Mitosis derives from the Greek word for “thread,” presumably referring to the dividing cell’s threadlike chromatin.  The Online Etymology Dictionary translates the Greek a bit differently as “warped threads.” Warped Threads would be a good name for a Seattle alt band that sings quirky songs about salamanders (“Newt Is A Real Salamander”), Greek letters (“I Was Just Your Beta-Test Boyfriend”), and 19th century German biologists (“Virchow’s Virtues”).

Oocyte. I admit I like this one strictly because it’s fun to say, and to play with different pronunciations – “ooo-cytes” “oh-oh-cytes” “oh-uh-cytes” or, perhaps if an egg cell develops abnormally, “uh-oh-cytes.” As an added bonus, the o-shape that the mouth makes when saying the word evokes the shape of an egg cell. I am not a fan of oogonia or oogonium (or their even more awkward cousins, spermatogonia and spermatogonium). Oogonia sounds like an ancient continent, as in  “During the Jurassic Period, tectonic forces broke up Gondwana into several smaller continents, including Oogonia, where only female dinosaurs thrived.” Oogonium could be a rare mineral as in “Oogonium mining resulted in contaminated ground water that was responsible for mutations in the oocytes of exposed field mice.”

Kindred, Kinship. While there is nothing wrong with pedigree – that old crane’s foot of a word – kindred and kinship are snazzier, a syllable shorter, and permit the Teutonic pleasure of the “k” sound. It also evokes a spirit of unity (the whole family is on this ship together and united by a special bond, as in kindred spirits). Besides, everybody thinks of dogs and horses when they hear pedigree, whereas kinship and kindred are usually only applied to humans. The related term sibship rolls off the tongue nicely too.

Products of Conception. This wins the Silver Medal for the coldest and most insensitive pregnancy-related term; the Gold goes to habitual aborter (both sound suspiciously like terms created by men for women). I recognize that it tries to communicate the idea that pregnancy includes a fetus as well as membranes and a placenta. But the term robs pregnancy of its emotional richness and sounds like a Marxist critique of a capitalist pregnancy factory where the female proletariat manufacture babies to generate profits for the owners.

Primitive Streak. I am fond of this one because it communicates the ancientness of this vertebrate biological structure. I am not the only one intrigued by this name. The Subdudes 1996 CD bears this title. It is also the name of a coolly outrageous clothing line developed by fashion designer Helen Storey and her sister Kate Storey, a developmental biologist. Their creations realize the early stages of embryonic development in fabric, and include such items as a dress featuring two sperm-shaped breast plates and a stunning white fake fur neurulation dress.

Genetic Drift. This term, attributed to the great geneticist Sewall Wright, clearly and non-technically evokes the word’s meaning without resorting to pedantic combinations of Greek words. You hear “genetic drift” and you immediately grasp what it refers to – random fluctuations in gene frequencies over time and populations, the evolutionary equivalent of Brownian motion. Genetic Drift was also the name of a wonderful series of genetics essays written by Larry Karp in the American Journal of Medical Genetics in the early 1980s and which were one of the inspirations for me to blog about genetics.


Filed under Robert Resta