The Implicit Judeo-Christian Ethic of Pedigree Nomenclature

I am  unabashedly the pedigree’s biggest fan.* Although those new-fangled              “-omics” testing technologies may soon surpass the analytic power of the pedigree, I suspect that pedigrees will be a critical part of genetic counseling for as long as it is practiced in its current form.

I have resisted using family history questionnaires because for most patients those questionnaires probably just feel like homework assignments. Besides, I am not convinced that questionnaires really save much clinic time. More critically, the process of constructing a pedigree provides great insight into a patient’s understanding of genetics, disease, and family dynamics.  And, truth be told, a questionnaire lacks a pedigree’s minimalist elegance and concise pictorial encapsulation of complex information. Ludwig Mies van der Rohe would have embraced the simple rhythmic modularity of a multi-generation pedigree.

But pedigrees are not measures of scientific realities like the speed of light in a vacuum or the Avogadro constant. Pedigree nomenclature is a product of  the sociocultural background of the geneticists who devised it. Pedigree symbols were formalized a century ago by scientists (eugenicists, if we are to be honest about it) raised in the Western Judeo-Christian tradition, a tradition that reflects

An Australian Aborigine kinship system

the background of many current genetic counselors.

The sociocultural biases of pedigree nomenclature are most apparent in its limits. So, what are some of those limitations and what do they have to tell us?

Simply put, pedigree nomenclature functions best for people who have one mating partner for life as well as for kindreds with few or no consanguineous matings, and further assumes that people can be neatly placed into one of two discrete gender categories.

Let me expand on these points. Pedigrees are best suited for a simple family structure that broadly reflects the Christian ideal of a single spouse for life. Sure, pedigrees are capable of including a second partner, but they quickly grow into a mess of confusingly angled lines and icons when someone has more than two mating relationships. This problem is compounded when the proband’s relatives also have multiple mates.

In some non-Western societies, people are expected to marry their cousins whereas Westernized societies generally stigmatize consanguineous matings. Christianity grudgingly allows for the occasional cousin marriage but marrying a first cousin can require special dispensation from the Vatican. Frequent cousin marriages within a family are discouraged. The pedigree of a patient whose family includes multiple generations of consanguineous matings is a complex web of double mating lines and hooked or crisscrossed lines of descent. Such families are better described by inbreeding coefficients than by ideograms.

Pedigree nomenclature also assumes that people are either male or female, just like God created Adam and Eve. This is a peculiar assumption, considering that intersex individuals are not uncommonly encountered in the genetics clinic. It is probably more accurate to say that gender and sexuality represent a spectrum, with male heterosexual at one end and female heterosexual at the other. Yes, I know that the nomenclature allows for the depiction of people who may not phenotypically, socially, or genetically fit neatly into either male or female. But the technique is awkward, and was developed almost a century after pedigrees had become part of the genetics toolkit. They are literally square pegs in round holes.

There are other subtle psychological aspects of pedigree nomenclature. For example, it reinforces mendelian and reductionist views of complex biological phenomena. Those neat arrangements of squares, circles, and lines can  

Pedigree nomenclature of the Eugenics Record Office, Cold Spring Harbor.

subconsciously seduce the clinician to think “Oh it must be a dominant condition with variable penetrance or reduced expressivity” or “With all those inbreeding loops it surely must be a recessive trait.” When you construct a figure intended to illustrate mendelism, everything starts to look mendelian. And, as eugenicists knew all too well, the ability of those dark and light geometric shapes to reify cultural constructs like feeble-mindedness or pauperism can make the pedigree a magnificently effective propaganda device.

Don’t get me wrong. I do not advocate eliminating pedigrees from the clinic or changing the nomenclature. Far from it. Hey, I was part of the group that established standards for modern pedigree nomenclature. But we must be willing to make the difficult acknowledgment that pedigrees are not objective scientific tools that take honest and accurate measure of biological traits. All kinship systems  reflect the culture that developed them. Pedigrees are the product of geneticists, with all of their faults, prejudices, strengths, and humanity.

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* – Okay, maybe I am second to Robin Bennett.

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Canadians celebrate 2nd Annual Genetic Counselling Awareness Week

This week (November 20-26) genetic counsellors across Canada will be participating in the 2nd annual Genetic Counselling Awareness Week (see my post on this topic last year.) The theme for this year’s event is centered around dispelling common myths about genetics.

For a 2nd year in a row I am serving as a co-chair for this initiative, and for the second year in a row I am blown away by the amount of work and thought that GCs have put in to ensuring this week is a success.  Even seemingly simple events, such as organizing a trivia night or movie screening, require an incredible amount of planning and coordination. GCs in Canada are taking time out of their busy lives and are volunteering their time and expertise.

I am hoping to put together a follow-up post after this week is over, with a ‘behind the scenes’ look at GC Awareness Week, in the hopes that it might provide some insight and incentive for other countries to follow suit. But for now I will just leave you with some highlights of what is coming up this week:

  • Genetic Counsellors in Edmonton, Alberta and Winnipeg, Manitoba will be featured on local news programs.
  • Groups in St. John’s, Newfoundland and Ottawa, Ontario will each be hosting a trivia night at a local pub. The GCs in Winnipeg are hosting a similarly themed evening, using clips from popular television shows, to help dispel common myths about genetics.
  • Multiple movie screenings will be occurring across the country. Films being screened this year include: In the Family, Extraordinary Measures, GATTACA and At My Mother’s Breast. In most cases, a genetic counsellor panel discussion will follow.
  • Several centres will be setting up information booths within their institution, in order to liaise directly with patients and hospital staff.
  • Rumor has it an Alberta-based group will be putting together a fun-loving You Tube video this year. Click here for last year’s video from GCs at North York General Hospital.

For a full list of events and info, visit the GC Awareness Week website.

Want to help spread the word? Pass along any relevant info to family members and friends who live in Canada, or use the designated hashtags #GCAwarenessWeek #geneticcounselling and #CAGC when tweeting about GCAW or GC-related issues throughout the week.

Image credit: TheFutureisUnwritten (link to image here)

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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.

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The Unusual Suspects: Wedgwood Pottery, The Canals of England, And The Death of God

God is dead…..And we have killed him.

– Friedrich Nietzsche

Nietzsche’s madman infamously proclaimed the demise of God in his 1882 work The Gay Science. Nietzsche was presumably dramatizing the idea that belief in God and the pervasive influence of Christianity in Europeans’ daily lives had ebbed throughout the 19th century.

Grant me permission to sidestep the heated debates among deists, theists, scientists, atheists, and all the other “-ists”  about the existence of God and let me indulge in a bit of fanciful post-mortem speculation about the real culprits responsible for the Supreme Deity’s untimely death – the canals of England and Wedgwood pottery.

I want to be clear up front – part of my theory is unabashedly lifted directly from Simon Winchester’s excellent book The Map That Changed The World. The  speculation about the role of Wedgwood pottery is my unique contribution.

Throughout the Middle Ages and up until the 18th century, much of the Christian world believed in the literal interpretation of The Bible. In this view, the Earth was created at 9 AM on a fine Sunday morning on October 23rd, 4004 BC, as calculated in 1650 by James Ussher, the Anglican bishop of Armagh in Northern Ireland.  By the start of the 18th century, the annotated pages of the King James Bible included Ussher’s dating for every biblical event. For example, a good Christian could open the Bible to the story of Noah and in the margins read that the Great Flood began on the 17th day of the second month in the 600th year after the creation of the Earth.

But the supremacy of the Bible soon came under scientific scrutiny. The late 18th century saw the rise of England’s Industrial Revolution, the shift from cottage based industries and farming to large factories that manufactured textiles and other goods on a previously unimagined scale. England suddenly needed huge quantities of coal to be transported quickly and cheaply, which led to the construction of a complex network of canals for carrying coal on horse-drawn barges from the mines to the factories.

Canal construction required the land to be surveyed to determine the best route for the waterways. William Smith, a key figure in the history of geology, surveyed the canals in the Somerset coalfields. As Smith studied the layers of earth in the coal pits, he realized that these strata could be identified in the same order in widely separated parts of England and that each stratum contained a unique set of fossils arranged in a predictable and orderly fashion from oldest to youngest. Smith eventually produced the first stratigraphic map of England, which provided  graphic evidence that the Earth must be considerably older than Ussher’s 6,000 year estimate. The first cracks started to appear in the rock solid Biblical view of the world.

The crippling blow to the literal interpretation of the Bible had its seed planted in 1769 when Josiah Wedgwood opened Etruria, his great pottery factory near Stoke-on-Trent in Staffordshire. Wedgwood realized that canals were a more cost-effective means of transporting clay to his factory and a far safer means of transporting his fragile products to their sales outlets. Wedgwood convinced Erasmus Darwin, his good friend and the eventual grandfather of Charles Darwin, to join him in investing in the construction of a  system of canals running from the countryside to major cities.

These shrewd investments led to the Wedgwood and Darwin families becoming among the wealthiest in England. Charles Darwin’s father, Robert, united the families’ fortunes when he married Susannah Wedgwood, daughter of Josiah Wedgwood. Charles himself further entwined the wealth of the two families by marrying his cousin Emma Wedgwood.

This vast wealth directly paid for Darwin’s Beagle explorations, and also allowed him to avoid the shackles of employment and to lead the leisurely life of a wealthy country gentleman as he spent decades meticulously developing his theory of evolution. As Darwin acutely understood, the 1859 publication of  The Origin of Species shocked the world, and still generates intense debate today. Whatever side one takes on these arguments, Darwin’s work shook many peoples’ beliefs in the literal interpretation of the Bible and the role of the Christian church in their perception of the world around them.

As Gil Grissom and the CSI crew know, solving a crime can be complicated and require making some not-so-obvious connections.

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Cross-Cultural Genetic Services

I have enjoyed the opportunity to be a part of this wonderful blog as an author.

I am leaving for Kenya where I will serve as a Peace Corps Volunteer for 2 years. I will serve as a Deaf Educator at a school for the deaf. I will also be a Behavior Communicator and will work with HIV/AIDS prevention within the deaf/hard-of-hearing community in Kenya.

I will also have a 3rd project which can be anything we want to do. Since genetic counseling is one of my passion I want to make my 3rd project something that has to do with genetic counseling. I would love to hear your input regarding genetic services in different countries and what we can learn from it.

While I am stepping down from this blog as an author, I do hope to continue to blog as a guest providing I have Internet access in Kenya.

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My Mind’s Made Up

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