Many people don’t know that the human eye has a blind spot in its field of vision. There is a part of the world that we are literally blind to. The problem is, sometimes our blind spots shield us from things that really shouldn’t be ignored. Sometimes our blind spots keep our lives bright and shiny

It’s safe to say that genetic counselors are not in it for the money. I prefer to believe that our practice is guided by what we perceive to be our patients’ best clinical and psychosocial interests, with no concern for fiscal gain for ourselves. But however bright and shiny we may be, we are only human and subject to the same economic pressures, character flaws, and temptations as everybody else. I am not claiming that there is wide scale greed and corruption in the profession. What worries me more is that our blind spot can prevent us from detecting or admitting the possibility of a conflict of interest.

This topic has not been openly discussed among genetic counselors, so it’s about time the subject was broached. I suspect this discussion will evoke discomfort, defensiveness, and not a little denial.  Financial conflicts of interest might arise in many areas of genetic counseling but I will explore just three: when genetic counselors work for laboratories as expert advisors on genetic testing, when we need to justify our clinical positions to hospital administrators, and at our  annual education conference.

Genetic counselors who work in medical centers are just as liable to conflicts of interest as their laboratory counterparts. In these tough economic times, we are being called upon to justify our jobs to administrators who face dwindling budgets and might have less of an appreciation for clinical and psychosocial issues. In response, we might look to increase our patient volumes, and one way to do that is to expand the indications for referral to genetic counseling beyond what might be considered “medically necessary.” You might then tell your boss that broadened guidelines will increase downstream revenue through more extensive screening and increased rates of prophylactic surgery. Surely we are not talking our patients into salpingo-oophorectomies or breast MRIs to enrich the hospital’s coffers or to secure our jobs, but that is the  message we are communicating to hospital administration (for the moment, ignoring the fact that we have little data to prove that assertion).

Or think about fetal diagnostic testing through maternal serum, which will presumably reduce the need for amniocentesis and CVS. Even if maternal serum testing proves to be not quite  diagnostic and still require invasive testing for verification, First Positive rates will be much lower than with traditional serum/ultrasound screening. This in turn might lower departmental revenue by reducing the number of counseling referrals,  invasive procedures, and karyotypes. Just how will those economic considerations affect our job security, how we evaluate these new tests, how we present them to our patients, and how we integrate them into our clinics?

The National Society of Genetic Counselors (NSGC), our collective face that we present to the public, has expanded its financial relationship with private laboratories. For example, in 2011, about 25% of the revenue from the Annual Education Conference came from corporate exhibitors and sponsors (contributing ~$216,000 of the total conference revenue of ~$820,000). Our professional relationships with labs are critical on many levels. But  accepting money  from them tacitly – if not officially – condones their services. NSGC would probably not accept certain labs as exhibitors or sponsors if those labs offered questionable  services, like using genetic testing to find the perfect mate or to improve your sex life through nutrigenomics. Excluding some labs lends a certain amount of legitimacy to those labs  from whom we do accept funds.

And let’s not forget those breakfasts and evening debaucheries that some private labs sponsor at every Annual Education Conference, or those  exhibitor booths where we fill our corporate-logo imprinted conference tote bags with giveaway geegaws and doodads (“Oh, I’m just bringing these home for my kids. I am certainly not going to use this lab just because they gave me a glow in the dark double helix pen and a piece of chocolate. Even if it is a Dove dark chocolate.”).

You are deluding yourself if you think these drinks and trifles do not subtly affect your selection of  a lab to run your tests. Just about every research study on this topic has concluded that those not-so-freebies do influence healthcare providers. Besides, if those giveaways didn’t help a business’s bottom line, do you think they would waste money giving them away? And when we go home and take those tote bags to the grocery like responsible Green Citizens, we become walking billboards that announce to the world that NSGC and Lab X are awfully cozy with each other.

I am not saying that genetic counselors should be unconcerned about their institutions’ bottom lines, or that the NSGC should abandon relationships with corporate sponsors. I have no idea of the magnitude of the problem because it has not been systematically studied. It is almost impossible to study it ourselves; those of us in the middle of are likely to have a hard time seeing it. Somebody outside of our profession needs to study this.

What the profession can do for itself is to clearly define financial conflicts of interest and develop guidelines to help genetic counselors navigate the treacherous waters of the Great Sea of Conflicts of Interest.

Am I being overly worried? Are there other aspects of genetic counseling that are vulnerable to these concerns? Share your thoughts and comments and air out this dusty old closet that we have avoided opening.

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.

The Whakapapa, the Maori tool for recording lineages.

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.

A Ratak Islander, with a pedigree tattoo. It evokes Ray Bradbury's The Illustrated Man: "This wasn't the work of a cheap carnival tattoo man with three colors and whisky on his breath. This was the accomplishment of a living genius - vibrant, clear, and beautiful."

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  

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.

____________________________________________

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

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 16^th 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.

- 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 19^th 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 18^th 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 23^rd, 4004 BC, as calculated in 1650 by James Ussher, the Anglican bishop of Armagh in Northern Ireland.  By the start of the 18^th 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 17^th 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 18^th 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.

Unfortunately I am infected with The Skeptical Gremlin, an endogenous retrovirus (Diabolus intus) nestled in the DNA deep within my brain’s Center For Medical Ethics and Genetic Counseling Practice. Against my will this nefarious spirit tempts me to question my belief in the central tenets of the Holy Genetic Counseling Bible of Nondirectiveness, Autonomy, Empowerment, and Other Feel Good Principles. It’s like having a devil on one shoulder without the contralateral angel for counterbalance. Diabolus fecit, ut id faceremi!*

My unexpected (of course) Spanish Inquisition  recently put me to the questions: “Do you really think you have that much influence over your patients’ decisions? Isn’t that a bit presumptive on your part?”

I confess that The Skeptical Gremlin could have a point, and not just because I

fear the strappado. It may be naïve, and dare I say plain old wrong, to assume that patients come to us with cognitive and emotional uncertainty that we skillfully resolve by providing unbiased encyclopedic information and utilizing acutely sensitive counseling techniques. A more realistic model might be that  patients’ decisions are shaped by far more powerful influences – personal life history as well as familial, social, cultural, and economic factors far beyond the control of  genetic counselors.  Most patients have their minds made up even before they walk in our offices, or, at the least, their decisions are more likely to be shaped by factors outside of the clinic.

I can already hear your groans and criticisms:

- “My patients agonize endlessly over their decisions and almost plead with me to make the choice for them.”

- “I had a patient just the other day where I could see the light come on for them right there in my office, and they were able to finally make a decision about genetic testing for their child.”

- “Why, there was that couple who were dead-set on terminating their pregnancy, and lo and behold an hour later they had u-turned, and were at peace with continuing the pregnancy (‘Take that, ye critics who think we talk everyone into a termination!’).”

Undoubtedly we help some patients make decisions. More often though we may be deluding ourselves with our unconscious need to feel good about our jobs, and affirm that what we do amounts to more than a hill of beans in this crazy hard knock life.

Don’t get me wrong. I think that our jobs do matter and we can feel good about ourselves, but not in the ways that we believe.

Making an ethically, emotionally, and cognitively complicated decision in which there is no clear-cut right answer stresses the psyche. Just because a course of action is right  does not mean that it is easy to be at peace with the decision. Patients may wind up discovering their darker sides, like what they really want their children to be like or what values are critical when life and family are on the line. In the complicated psychological interplay of counselor and counselee, patients may subtly project the burden and blame of their uncomfortable decisions onto us.

Perhaps then our job is not to help patients make decisions so much as it is to help them realize and acknowledge the decisions they have already made (sometimes at such a deeply subconscious level that they are unable to articulate the decision), explore why they are having a difficult time coming to grips with the decision, and then work with them to facilitate adaptation to their choice.

If this model is correct, that many patients have made decisions before they ever see us and that we can usually do little to change those decisions, then there are important implications for the practice of genetic counseling. How we conduct genetic counseling clearly requires counseling skills that need to be continually honed, critiqued, and expanded as well as developing an awareness of the external factors that shape decision-making. And how we evaluate the success of genetic counseling will become even more difficult.

This does not mean that patient education is unimportant, and, after all, genetic counseling is not always about decision-making. Still, patients usually expect a certain amount of information during a genetic counseling session, even though they typically forget half of it and unconsciously distort the rest to fit their world views. The patient who endlessly searches the Internet and seeks opinions from multiple sources may be looking for a rationale rather than an answer. Unless we explore how information matters for patients and families, how their values and beliefs give context to that information, and how it relates to the decision they have made (whether or not they are cognizant of that decision), we have not done our jobs.

I can offer no proof of concept, and I may very well be wrong. But this lens gives an interesting and different view on genetic counseling.

"The Consultation" from another angle.

"The Consultation" from a different angle.

"The Consultation" by Allan W. Lobb, MD (1923-1998), in the lobby of Swedish Medical Center, Seattle, WA. How you interpret this sculpture depends on the lighting and which angle you view it from.

* – Loosely translated as “The devil made me do it!”

Read the list. Argue some points with me. Think it over. Venture your own ideas in the Comments section. Have fun with it.

A “Top Ten” Agenda For The Genetic Counseling Profession For The Next Decennium

1)    Work on our relationship with, and develop a better understanding of how we are perceived by, people with disabilities, and their advocates.

2)    Integrate our services into the evolving landscape of widely available genetic testing for many common and rare genetic conditions.

3)    Develop, conduct, and publish a coherent research agenda about the process and outcomes of genetic counseling so we can effectively deliver genetic counseling in meaningful ways to improve the medical, psychological, and social well-being of our patients.

4)    Ensure that genetic counselors are covered providers in all pubic and private insurance plans so that every patient, regardless of socio-economic status, has access to our services.

5)    Educate ourselves to stay up to date in the rapidly growing field of genetic medicine, and encourage personal and professional growth.

6)    Develop and grow our counseling skills to ensure that all patients receive psychologically, emotionally, and culturally sensitive genetic counseling.

7)    Increase the demographic diversity of the profession to reflect our patient population.

8)    Increase the professional diversity of genetic counseling jobs and skills so that we are an integral part of all relevant aspects of clinical care, as well as policy development and implementation, laboratory medicine, academics, government services, and research.

9)    Encourage active involvement in our professional organizations (NSGC, ABGC), and with our relationships with other professional organizations, to ensure that we have a public face that reflects our priorities and that advocates for the profession.

10)  Maintain the highest quality in our training programs to ensure that the profession continues to be supplied with bright, thoughtful, ethical, empathic, and well-educated individuals.

committing the mistake

of heading straight to

matters of fact

But they must tell their stories first

Facts only matter

in the setting of the heart.

§

An incendiary March night,

standing in a meadow,

looking up in little girl wonder

In the distance

Tokyo vaporizing

into hot white ash, carried by a vortex

of burning wind, transformed into

a snowfall from Hell

that calmly floated down, and covered the grass

as far as her eyes could see.

§

August, family and neighbors

crowding the barn

surrounding the only radio in the village

a silent circle of heads

weighted with shame and shock

listening to the Great Emperor

surrender their country to strangers

from across the ocean

But she was secretly relieved

Never again would her asthmatic airway

be inflamed by sirens and the musty air

of a stifling underground shelter

her mother pulling her by a stiffened arm,

protesting, in the purple dark of night

as the world exploded around her.

§

Across the Axis, a tiny girl

cried in a Dresden bunker,

unaware that her desperate mother

had raced back

to coax a stubborn father to join them

in the safety of the depths

Her family history erased forever

by a carpet of bombs

that rolled down the street

to arrive at the door of her house

precisely as her mother opened it

to plead with him to run for his life.

The True Version was related by someone who was in the room when the decision was made. In my previous post I alluded to the Battle of Hastings. That imagery was apparently not far off from the truth; one conference attendee reported that at times the session seemed like World War 2 1/2. As I had suspected, the 1966 Chicago Conference* was the scene of the crime. The suspects included some important figures in the history of medical genetics: Klaus Patau, Jérôme Lejeune, and Lionel Penrose.

Klaus Patau first described the clinical and cytogenetic basis of trisomy 13 in 1960, along with his wife Eeva Therman (the Finnish cytogeneticist who was sometimes called Mrs. X Chromosome), the great dysmorphologist Dave Smith, and two other authors. Patau originally worked at Germany’s Kaiser Wilhelm Institute and then went on to a long and illustrious career at the University of Wisconsin at Madison.

France’s Jérôme Jean Louis Marie Lejeune is known for his lifelong devotion to the study and care of people with Down syndrome. He was a devout Catholic and a friend and advisor to Pope John Paul II. In 1959, Lejeune, along with Raymond Turpin and Marthe Gautier, were the first to report the underlying cytogenetics of Down syndrome. Gautier, a physician who worked in Turpin’s laboratory at the Centre National de la Recherche Scientifique in Paris, first thought of the idea to karyotype a patient with Down syndrome patient and noted the presence of an extra chromosome in the cells cultured from a skin biopsy.  Lejeune identified the culprit as the twenty-first chromosome. Decades before, several scientists had suggested that Down syndrome might have a cytogenetic basis, including Petrus Waardenburg, Guido Fanconi, and Lionel Penrose, but the technology was not available at the time to test the theory.

Lionel Penrose, the longtime Galton Chair at the Galton Laboratory at University College London, was one of those great polymaths that England seems to be a breeding ground for. He was a psychiatrist, chess master, mathematician, medical geneticist, and, among other things, proposed a method (now called Penrose’s Law) for fairly allocating votes among countries in international organizations like the UN. He statistically established the association between advancing maternal age and an increased risk of Down syndrome.

Back in Chicago, the nomenclature session lasted many hours. Initially, “s” and “l” were recommended for the chromosomal short and long arms. Patau countered with “k” for kurz (German for “short”). Lejeune strongly argued for “p” for petite. This was followed by arguments about naming the long arm, with the concern that “l” could easily be confused for the number 1. In the wee hours of the morning, Penrose entered the room, wanting to know why the session had not yet ended. After hearing about the difficulties, he offered p & q because they were linguistically neutral, and because p + q = 1, evoking the idea that a short arm and a long arm together make one whole unit.

So it turns out that the True Story is closest to Version 4, what I labeled The Hardy-Weinberg version in my earlier post, but it also contains elements of Version 1 (The French Connection) and Version 2 (Francophones vs. Anglophones). Alas and alack, Version 3 (The NY Typesetter’s Error) appears to have no basis in truth, though it is still a good story. Interestingly, the results of the Voting Poll in my previous posting indicated that most people thought The French Connection was the correct story (garnering about 62% of the 211 votes cast by April 30th), whereas the Hardy-Weinberg story came in a distant third at about 11%, with The Francophones vs. The Anglophones attracting 19%, and the New York Typesetter’s Error coming in last with about 8% of the vote.

I guess that when it comes to history, there’s no such thing as The Truth, only distorted versions of it that over time become mistaken for the real thing. Of course, what is really interesting about history is not The Truth so much as the fact that we need to tell stories about our past, and those stories reflect complex personal, psychological, educational, and sociological factors.

* – Chicago Conference (1966): Standardization in Human Cytogenetics: Birth Defects. Original Article Series, Vol 2, No 2, New York, The National Foundation (1966).

Thank you to my colleagues from the Cytogenetics Listserv for forwarding the communication, and to the many readers of the DNA Exchange who took the time vote on The True Story and share their own stories.

But before all that trypsin, calf serum, and Giemsa stain sails off in a T-25 culture flask to navigate the seas of our mythic memories, some cytogenetic stories need to be told. The tale I want to relate started with an email from Debbie Collins, one of our Kansas City genetic counseling colleagues.

“I went to a lecture today,” Debbie’s email began, “and learned how the chromosome’s short and long arms came to be called p & q.” She then related a story that was completely different than what I had always held to be true.

Debbie’s email got me into a Rudyard Kipling frame of mind. Just how did the chromosome get its name? As it turns out, probably neither Debbie’s story nor my story is true. I searched for the “real” answer in standard genetics textbooks and PubMed, but to no avail. So I unscientifically queried geneticists and cytogeneticists of various stripes and ages about how they thought “p” & “q” came to be the official chromosomal designations. Here are their stories, with annotations by me:

1)    The French Connection. This was the most popular version in my unofficial survey.  In this story, “p” stands for petite, the French word for “short.” The long arm came to be called “q” because “q” follows “p” in the alphabet. But that seems inconsistent. Why would one chromosomal arm be named after a word and the other arm named after a letter? It would be more logical to call the long arm “g” for grande, French for “big” or “large.”

2)    Francophones vs. Anglophones. In this version, the French in fact wanted to go avec “p” et “g”. Mais l’English speaking contingent objected to the French conquering the entire chromosome, apparently still harboring some nationalistic resentment nine centuries after The Norman Conquest. The Anglophones held out for “q” because, they claimed, “q” follows “p” (see The French Connection above). But really “q” appears English and also had the quality of making “p” evoke English rather than French. Even though it gave the appearance of a civilized linguistic compromise in which both sides got to name half of a chromosome, victoire pour les Anglais. Hastings avenged!

3)    The New York Typesetter’s Error. This is the version Debbie Collins related to me. The 1971 Paris conferees recommended “p” and “g” á la petite et grande. The nomenclature was reported in 1972 in Birth Defects: Original Article Series, which was published in New York City. A mythical typesetter inadvertently confused “g” for “q”.  The mistake was noticed after the issue had gone to press, too late for correction.

Great story, which caters to our stereotypes of New Yorkers’ penchant for giving language a unique twist. Sadly, though, it is not likely true. First off, I’ve never met a cytogeneticist who was not pathologically detail-oriented, and there is no way they would ever let an error like that get beyond the earliest stages. But more tellingly, although the Paris Conference indeed recommended “p” and “q”, these designations were in use at least 5 years before the 1971 meeting.

4)    The Hardy-Weinberg Equilbrium. As one source quoted to me, all geneticists know that p + q = 1. This has nice poetic and historical resonance . But it sounds too pat to be true. Somehow, I can’t imagine a sober-minded committee thinking this up, and then everyone agreeing to it (or perhaps they weren’t sober). Besides, what does cytogenetics have to do with the Hardy-Weinberg Law?

After spending an inordinate amount of time on PubMed, I think that I have narrowed down the start of the p/q story to the Chicago Conference in 1966, also published in Birth Defects: Original Article Series (I have to admit, though, that I have been unable to obtain a copy of this publication. If anybody is willing to send me an electronic or print copy, I would be forever indebted). The 1960 Denver Conference, by the way, makes no reference to “p” & “q.”

Which story do you think is true?  History is essentially the stories about our past that we have come to believe to be true. So let us choose our history systematically and democratically, rather than leaving it to the confabulations of story tellers or the biased views of the powerful. We can create the truth by popular vote, rather than simply relying on bothersome facts. Use the polling box below to vote for your favorite story so we can settle on the official History of Chromosome Nomenclature. Please, no stuffing the ballot box to ensure that your favorite theory wins; I have ways of finding this out and I will hunt you down. It would also be fun to hear other theories that I may have overlooked, so please use the Comments section to add to the list of Urban Legends of Cytogenetics.

See the follow-up to this posting on the DNA Exchange: “p+q = Solved, Being The True Story of How the Chromosome Got Its Name.”

Thanks to Debbie Collins, Alex Minna Stern, and Nathaniel Comfort for helpful discussions.

Your head says forget it

-Joni Mitchell, “You Turn Me On, I’m A Radio”

I love my profession. My heart belongs to my wife, but that’s a different sort of love.* I love my job because it affords me the privilege of being admitted into the deep recesses of patients’ emotional landscapes as they make complicated decisions and experience life-altering events. And I love genetic counseling because it let’s me believe that my skills and education are making a dent in this hard, hard world. I hope that I am helping reduce the emotional and physical suffering from genetic disease and that I make patients’ lives better in small or big ways.

Or perhaps I am  unrealistically romantic. It could be that for many patients genetic counseling doesn’t amount to a hill of beans. Maybe I get more out of this relationship than they do.

Intimate relationships are, by their nature, plagued by doubt. But unexplored doubt only festers. So let me ask  a very difficult question: Would it make a heck of a lot of difference to the world if the profession of genetic counseling abruptly vanished? Who would notice?

We like to think that we are critical to Mission Healthcare. And no doubt we can all supply a fistful of anecdotes to support our case. This patient was given inaccurate information by her physician and almost had an unnecessary mastectomy before she saw me. Or  how about that physician who told the patient she had Huntington disease when in fact she had a normal number of repeats? That poor woman was beside herself. A patient last week said I was the only one who could help her come to grips with her child’s diagnosis, and she finally felt like she and her husband could get on with the business of being a family again. And then there was that evil dragon of an insurance company I slew the other day.

To be sure, these anecdotes are important to me; they keep my heart smokin’. But my head asks “How do we know that somebody else couldn’t do our job as well, if not better, or that our jobs are even necessary?” Where are the studies that compare genetic counselors to other healthcare providers, or  to smart phone apps for that matter? There are a few studies, but they are limited by small sample sizes or questionable outcome measures like information recall and anxiety. Which genetic counseling patient isn’t rightly anxious and wouldn’t it be more useful to help them cope with their anxiety rather than trying to make it poof-disappear?

So if genetic counselors weren’t here, maybe some people would never quite grasp  the subtleties of x-linked inheritance, the mechanics of adjacent 1 segregation, or the bayesian likelihood that they will have a child with spinal muscular atrophy. Who knows if patients even care about these matters? We all know that knowledge has very little to do with decision-making or adaptation and patients will still be just as anxious.  And if prenatal diagnosis ceased to exist, the net result would be an increase in the number of births of children with Down syndrome . One might argue this is not exactly a public health emergency or a critical failure of the healthcare system.

How can I doubt something I have been doing for three decades? Well, the doubt is mostly in my head, not in my heart. So I challenge you all to restore my faith in this relationship. Prove our value to patients and the healthcare system. Go out and do the studies. Measure all kinds of outcomes – psychosocial adaptation, public health measures like reducing the incidence of serious cancers, quality of decision making (how come nobody tries to measure whether patients make good decisions or bad decisions?), empowerment, perceive personal control, whatever. Do them all.  Let’s finally listen seriously to Shoshana Shiloh, Marion McAllister, Barb Biesecker and the other researchers who have been prodding us for years to examine genetic counseling outcomes. But then be prepared to take a long, hard look at ourselves, what we do, if we should even be doing it, question our assumptions and ethos, and think about how we should change the very nature of genetic counseling. Let’s be sure the relationship is as rewarding for our patients as it is for us. Make the fire in my heart spark some passion in my head.

* – My love for my wife is better evoked by this verse from a Tom Waits song:

In this land there’s a town/In that town there’s a house/ In that house there’s a woman/And in that woman there’s a heart that I love.