Category Archives: Robert Resta

by Robert Resta | September 2, 2013 · 6:45 PM

Freud, Kesey, Campbell, And The Case of A Congenitally Unusual Vagina

Vintery, mintery, cutery, corn,
Apple seed and apple thorn;
Wire, briar, limber lock,
Three geese in a flock.
One flew east,
And one flew west,
And one flew over the cuckoo’s nest.

A recent story about teeth grown from stem cells that were extracted from urine reminded me, in the odd ways that brains make associations, of One Flew Over The Cuckoo’s Nest. I first read Ken Kesey’s novel in the mid-1970s when I was majoring in anthropological folklore at Brooklyn College, a wannabe Joseph Campbell. Kesey’s novel, viewed through my newfound mythological lens, was ripe with primal imagery and mythological motifs . A decade and a career later, I came across a case report in the British Journal of Obstetrics and Gynaecology of a rare congenital anomaly and in a flash my worlds of mythology and genetic counseling merged. And it all starts with a vagina, or more precisely, a toothed vagina.

Three near universal figures in folklore are Trickster, Hero, and the Vagina Dentata. Trickster takes on many shapes and forms and plays different roles in different cultures. A common story involves Trickster disobeying the social rules to upset cultural norms. One could make the case that Bugs Bunny is the culturally distorted Looney Tunes descendant of Trickster Rabbit. Hero is often the Founding Father or Savior of a culture who must overcome a great obstacle or defeat a horrible monster, not uncommonly with the help of Trickster. The Vagina Dentata figure is a female beast – sometimes called The Terrible Mother – who is endowed with a toothed vagina with which she emasculates and controls men.

As you might guess, the vagina dentata figure is a frequent target of psychoanalytic theory and feminist critiques. Clearly this goes deep into Freudian territory. Some view it as the mythological re-telling of the conflict between patriarchal and matriarchal societies. Females are portrayed as monsters because the story is told by male victors.

Set in what was then called an asylum for the insane in Oregon, the plot centers on Randle Patrick McMurphy (better known to many of us as Jack Nicholson), Chief Bromden, and Nurse Ratched, the three geese of the rhyme’s flock. McMurphy/Trickster wreaks havoc by commandeering boats and buses, and generally irritating Nurse Ratched by flaunting her rules that give her absolute control of the inmates. As Nurse Ratched describes McMurphy to a co-worker: Sometimes a manipulator’s own ends are simply the actual disruption of the ward for the sake of disruption.

Chief Bromden is Hero, a big man whose large size is a phallic symbol and inability to speak is a manifestation of his impotence and domination by Nurse Ratched.

Nurse Ratched is the Vagina Dentata. A ratchet wheel is a toothed wheel (okay, the spellings aren’t exactly the same, but give Kesey some literary license here) and cuckoo’s nest is an old slang term for vagina. Chief describes Nurse Ratched’s monster-like qualities:

She’s going to tear [them] limb from limb, she’s so furious. She’s swelling up, swells till her back’s splitting out of the white uniform and she’s let her arms section out long enough to wrap around the three of them five, six times. She looks around her with a swivel of her huge head…and she blows up bigger and bigger, big as a tractor….

Later, McMurphy discusses Ratched with another inmate:

Inmate: She’s not some kind of giant monster… bent on sadistically pecking out our eyes.

McMurphy: No, buddy, not that. She ain’t peckin’ at your eyes. That’s not what she’s peckin’ at.

Inmate: Not our eyes? Pray then, where is Miss Ratched pecking, my friend?

McMurphy: At your balls, buddy, at your everlovin’ balls.

With his slyness and fondness for breaking rules, McMurphy gains Chief’s trust by sharing a pack of gum and gets him speaking again , symbolically restoring Chief’s phallic potency.

Later in the novel, McMurphy recruits some prostitutes to help release the sexual repression of the stuttering Billy Bibbit. Nurse Ratched discovers the shenanigans and humiliates Billy by threatening to tell his mother. Subsequently, the shamed Billy commits suicide for which McMurphy blames Nurse Ratched. Enraged, McMurphy chokes Ratched and ripped her uniform all the way down the front, screaming again when the two nippled circles started from her chest and swelled out and out, bigger than anybody had ever imagined, warm and pink in the light...

McMurphy’s punishment for the assault is lobotomy, the symbolic equivalent of castration for Trickster whose power lies in his wits. Chief, his vitality restored by McMurphy, smothers the lobotomized McMurphy (a half century before Oregon passed its Death With Dignity law), rips a control box off the floor, smashes a window, and escapes to freedom, Hero resurrected.

Of course, this is only one of many ways of reading the novel. Did Kesey have mythological motifs in mind when he formulated the novel? That’s unknowable, but if folklorists are right, mythology is always on our minds. The tales that emerge from writers and storytellers tap into deep subconscious wells. The sexual and power conflicts within our minds and our society play out in our stories; we can’t help but tell these tales.

It is not surprising that congenital anomalies and genetic disorders can play mythological and religious roles that range from sacred to profane. Congenital alterations of the flesh may be transformed into hero or beast. It’s hard to say if an actual toothed vagina is the source of the mythological figure, but even the rarest encounter (although ovarian dermoid cysts not uncommonly contain teeth) with this anomaly would likely have left a deep and lasting impression. As Chief says, “It’s truth even if it didn’t happen.”

Albatross

Ah! well a-day! what evil looks

Had I from old and young!

Instead of the cross, the Albatross

About my neck was hung.

And till my ghastly tale is told,

This heart within me burns

He went like one that hath been stunned,

And is of sense forlorn:

A sadder and a wiser man,

He rose the morrow morn.

– Excerpts from The Rime of The Ancient Mariner, by Samuel Taylor Coleridge

Eugenics. I can hear the thud as the collective eyes of genetic counselors roll heavily at the mention of the E-word. That finger has been wagged in our faces ad infinitum. Alright already, we have learned our lesson from this shameful past. That was like more than half a century ago. Do we have to still keep apologizing for something we never did? Enough with the hand-wringing and perseveration. We’ve smoked this one down to the filter.

Well, no, apparently we are not done. As historian of medical genetics Nathaniel Comfort has pointed out in a recent thoughtful Genotopia blog (with an equally thoughtful commentary by Alex Stern, the biographer of our profession), eugenics discussions are back with us. We need to keep having the discussion because apparently we are not sadder and wiser people this morn. Some even think – with great hubris, in my view – that with our supposedly greater wisdom and technological advances, maybe some version of eugenics is not such a bad idea after all.

I am not going to repeat Nathaniel’s and Alex’s arguments here; visit the Genotopia blog and read the originals. What I want to do is to offer a framework for thinking about the issues raised by these historians and introduce the concept of genetic discrimination into the mix.

Genetic discrimination, in my definition, is discrimination based on a person’s presumed or actual genotype and it’s presumed or actual phenotypic expression. The word discrimination comes from the Late Latin discriminationem, meaning “to make distinctions” and can have both negative and positive connotations. Racial and gender discrimination that results in suffering and inequity is bad. But a discriminating person is one who shows great taste for fine things. Not to try to dance too many angels and devils on the head of this pin, but perhaps when discrimination has a negative effect, it could be called dyscrimination.

Eugenics, then, can be viewed as a form of negative genetic discrimination, the goal of which is to improve the genetic health (whatever that means) of future generations.

Prenatal diagnosis, the usual aim of eugenic critiques, is not eugenic because it does not try to alter allele frequencies of future generations. Down syndrome is almost never an inherited disorder, and people with Down syndrome rarely reproduce. Prenatal diagnosis is not an attempt at “the self direction of human evolution,” as the 1921 Second International Eugenics Congress defined eugenics. But from the standpoint of some, prenatal diagnosis is a form of negative genetic discrimination – fetuses are discriminated against because of their genome and the common but inaccurate perception of the Down syndrome phenotype as a backward child with a heart defect but a pleasant personality. Although the insensitive term mongolism is rare these days, the common image of “the Mongol child” has not evolved as much as it should have.

Pre- or early pregnancy screening of parents for mutation carrier status for various genetic conditions, on the other hand, might rightfully come under eugenic criticism since its explicit goal is to improve the genetic health of future generations and to wipe out genetic diseases by preventing the conception of homozygous recessive offspring. Never mind the nonsense spewed forth on some websites; carrier screening usually has very little to do with improving the health and quality of life of babies who are born with genetic conditions. Carrier screening can result in reduced suffering if fewer children are born with life threatening or medically serious disorders but it rarely improves the health of babies who are born with those conditions. Whether this is a “good” or a “bad” form of eugenics, and how commercial laboratories advertise their product, are questions open to healthy debate.

Newborn screening, as it is currently practiced, is not eugenic because its intent is to improve the health of a child by treating the presumed phenotype based on the genotype. Newborn screening could thus be viewed as a positive form of discrimination, albeit one with flaws that we are not comfortable acknowledging . But newborn screening can also be viewed as negative genetic discrimination, depending on the condition being screened for. Some people who are deaf have raised serious concerns about screening newborns for hearing loss.

Genetic screening for adult onset disorders like Lynch syndrome or familial hypercholesterolemia may be positive genetic discrimination. The goal of this screening is to treat the phenotype based on the genotype with the hope of reducing the incidence of serious, life-threatening diseases or to mitigate their effects. Dietary changes, treatment with statins, high risk cancer screening, and surgery are strategies that are offered to people at increased hereditary risk of developing these diseases. Of course, if there were to be widespread preimplantation or prenatal diagnosis for these conditions, then we should rightly raise eugenic questions.

Why make these distinctions? Because the word eugenics has become an angry accusation that ends discussions. The social effects of genetic medicine and genetic counseling should always be open to vigorous scrutiny but the criticism needs to be accurate and sensitive to nuance. Maybe some of what we genetic counselors do is eugenic, and maybe under certain situations, this may not be as terrible as it sounds. And maybe some of what we do is dyscriminatory but not eugenic; we need to understand why it is dyscriminatory so we can do something about it. And maybe lots of what we do is very helpful for many people and not particularly eugenic. To cram all of medical genetics into a eugenic framework prevents any progress from ever being made. The two sides start to resemble Democrats and Republikans in a dysfunctional Congress, never able to engage in meaningful debate. Let’s get this albatross off our necks.

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Tagged as bioethics, carrier screening, ethics, eugenics, Genetic counseling, genetic discrimination, genetic medicine, negative eugenics, newborn screening, positive eugenics, prenatal diagnosis

by Robert Resta | June 27, 2013 · 9:49 AM

A Review Of “Anybody’s Miracle,” A Novel By Laura Hercher, Genetic Counselor

It’s not everyday that a genetic counselor publishes a novel. In fact, I think that has only happened on one day, with the recent publication of Anybody’s Miracle (Herring River Press) by our genetic counseling colleague Laura Hercher.

Laura is my partner in blogging crime here at The DNA Exchange. One might rightly point my own finger at me and accuse me of a conflict of interest in reviewing a book written by a fellow DNA Ex’er. While this review may amount to a bit of free advertising for Laura, I will not receive a single ha’penny or any other form of compensation from Laura, her publisher, or anybody connected with Laura.

Anybody’s Miracle is about the tangled web we weave once we begin to conceive. The story centers on Robin Hogan, a bright, beautiful Catholic woman whose otherwise wonderful life lacks one thing – children. Unable to conceive naturally, she and her husband suffer through the trials and tribulations of infertility work-ups. After nearly losing her life from ovarian hyperstimulation, she conceives twin boys with the help of IVF, and here the story takes off after a slowish start. She desperately wishes to conceive another child even though the risks to her health are great. Robin then becomes driven to learn the fate of her frozen embryos, who she thinks of as her children. Robin’s sleuthing leads to the discovery that one of her embryos resulted in a successful pregnancy for an infertile couple and she hatches an entirely unethical scheme to learn the couple’s identities. Robin’s becomes obsessed with the child – the daughter she never had! – and takes to spying on the family and photographing the girl from a distance.

Just when the going starts to get creepy, the plot twists like a helix when the little girl develops leukemia and requires a bone marrow transplant. Of course the only compatible donor turns out to be one of Robin’s twin boys, who is the girl’s genetic brother. Because of poor communication, misconceptions, and Robin’s Hitchcockian obsession with the girl, the two families clash when the girl’s parents not unreasonably believe that Robin will demand they give up their daughter to Robin in exchange for using her son as a bone marrow donor. Lawsuits, meetings with high-profile lawyers who have their own agendas, and media hoopla follow in grand style. The craziness is resolved only with the unwitting help and innocence of a hungry little boy.

Set during the 1990’s and early 2000’s, the story plays out against the major events and trends of that era – the dot.com bust, 9/11, cell phones, homosexuality taking its first tentative steps out of the social closet, and parents obsessed with raising their children as if they were organic vegetables. Perhaps the greatest miracle of all – the breaking of the Curse of the Bambino by the 2004 Boston Red Sox – plays a critical symbolic role. The novel explores several themes near and dear to the hearts of genetic counselors – the conflicts that arise when parenthood is defined by genetic, social, and gestational criteria; the moral and social status of embryos; and how the often deep and profound childbearing urge will push some people to great personal and ethical extremes.

The book is an easy and enjoyable read, and the pacing, though occasionally uneven, will keep you wanting to know what happens next. I thought the ending wrapped things up a bit too neatly and happily. I was also hoping for a larger role for a genetic counselor character (genetic counseling is mentioned very briefly when an “offstage” GC make what I would describe a bad professional judgment call), but that does not detract from the novel. Anybody’s Miracle arrives just in time for a good summer read for genetic counselors. Maybe if you bring it to the AEC in Anaheim in October, you can get Laura to autograph your copy.

The closest similar achievement by a genetic counselor that I know of was by Anna Phelan, a former genetic counselor who wrote the script for Mask, the 1985 Peter Bogdonavich movie that starred Cher and was based on the life of Rocky Dennis, a young man with craniodiaphyseal dypslasia. Anna went on to contribute to Gorillas in the Mist, Girl, Interrupted and other films. There are a number of creative talents in the genetic counseling community – Jon Weil’s intriguing pottery, the photography of Jean Pfotenhauer and Liane Abrams, to name just a few . Use the Comments section below to tell us of the creative skills of other genetic counselors so we can celebrate the talents of all of our colleagues.

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Tagged as Anybody's Miracle, book review, Genetic counseling, in vitro fertiliaztion, Laura Hercher, narrative medicine

by Robert Resta | June 16, 2013 · 4:50 PM

Star Power

BRCA is a hot news item these days. The SCOTUS ruling on the Myriad patent. Angeline Jolie writing in the New York Times about her experience with BRCA testing. A movie about BRCA testing starring Helen Hunt as Mary-Claire King (Hey,when they make the movie about me, they will have to get Clooney or Depp for the lead). But BRCA testing has been around for about 15 years and I have met with thousands of patients who have gone through the decision-making process about genetic testing. For some the choice was a snap; for others it was a difficult, soul-searching affair. I eventually realized the obvious – nobody undergoes BRCA testing until they are emotionally ready.

Public lectures, brochures, ad campaigns, podcasts, TV commercials, advertisements, physician referrals, and word of mouth all increase awareness of BRCA testing but they do not necessarily drive people to actually meet with a genetic counselor or to undergo testing. When reviewing medical records prior to a patient’s appointment, I frequently see the notation “Recommended that the patient see Bob Resta for BRCA testing” repeated multiple times over the years by different providers – radiologists, family practitioners, gynecologists, etc. Patients often need a trigger to make the appointment phone call. A cancer diagnosis pushes some patients to testing to help guide their treatment decisions, which, from a preventative public health stand point, is a significant systems failure. Many patients, particularly those who have not yet been diagnosed with cancer, need an emotional trigger – a friend diagnosed with cancer, reaching the age when a parent was diagnosed with cancer, coming to grips with the responsibilities of parenthood, or an experience that causes them to acknowledge their mortality.

These triggers have resulted in a more or less steadily increasing flow of referrals, with occasional rises and dips that follows a pattern that is no more transparent to me than the whimsical ups and downs of the stock market. But overall cancer genetic counseling and testing is still underutilized.

And then came Angelina Jolie.

I am guessing that most cancer genetics programs were swamped with a tsunami of referrals after May 14th. Rumor has it that some genetic counselors have taken to saying that the AJ Panel now stands for Angelina Jolie Panel, not Ashkenazi Jewish Panel (well, not really, I just made that up, but it could be true). At my institution, I roll my own; I am the only genetic counselor in our hereditary cancer program, so the leap in patient volume has been particularly acute for me.

Initially I thought I was just a cranky old counselor complaining about a couple of busy days. But then I compared my patient load in the 4 weeks before Angelina Jolie’s New York Times piece on May 14th to the 4 weeks after. I grant you this is not exactly a scientific methodology, and I can think of all kinds of faults in the study design. But it probably provides a reasonable approximation of reality.

In the 4 weeks before May 14th, I met with 54 patients, almost all of whom were new patients, a typical volume for me. Twenty of those 54 visits (37%) were by patients who had a family history of cancer, rather than having been diagnosed with cancer. 35 patients underwent BRCA testing.

In comparison, in the 4 weeks after May 14th, there have been 90 clinic visits, a 66% increase compared to the prior 4 weeks. 58 patients underwent BRCA testing, also a 66% increase. It was not due to mini-epidemic of breast cancer in my neck of the woods (although Seattle has the highest incidence of breast cancer in the country) – 52 of those 90 visits (58%) were by healthy patients who had a family history of cancer.

Perhaps this bump in my workload was a seasonal thing as people clear off their to-do lists before summer vacation, but I did not find similar patterns in April/May/June of 2011 or 2012. In fact, in 30 years of practice, I do not believe that my patient volume has ever risen so rapidly so quickly. It is fair to say this increase is largely due to Ms. Jolie’s revelation. Presumably this will eventually taper off. But I already have 20 patients on my schedule for the coming week.

I usually ask patients what motivated them to come in for genetic counseling at this particular time in their lives. A few patients have admitted that Ms. Jolie was their impetus for seeking genetic counseling. But most were quick to say – sometimes without prompt – “I am not here because of Angelina Jolie. I just decided it was the right time to come in.” That may be true for some, but I suspect that downplaying the Angelina Jolie angle may reflect a bit of embarrassed denial on the part of others. All of us are influenced by influential people, which is why we call them influential. Influence, however, can be so subtly pervasive that we cannot detect its fingerprints. Just ask Don Draper.

I am not critical of Angelina Jolie’s decision to share her story. No matter how famous you are, it has to be difficult to share such an intensely personal narrative with just about every human being on earth. And her actions may very well help save lives and reduce suffering, which is what we are trying to do in medical care. To many of us, though, it seems paradoxically odd but not surprising that a movie star can play such a critical role in people’s lives. She is not a health care expert; she doesn’t even play a doctor on TV.

But as I have argued before, genetic counselors have less influence on patients than we like to believe. Medical decisions and healthcare utilization are shaped by a complex web of emotional, social, cultural, and psychological factors, many of which people are not willing to acknowledge or are even cognizant of, and which are beyond the control of genetic counselors.

If we want to better integrate genetic counseling into standard medical care, we need to move beyond a model of Healthcare Provider Education and Referral Pamphlets Are The Best Way To Get People Into Our Offices. We need to take a page from DTC genetic companies’ playbooks and make it less of a hassle for patients to utilize genetic counseling and testing. We need to tap into social psychology and tease out the factors that lead patient’s from their front doors to our office doors. The future of the genetic counseling profession depends on it.

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Tagged as Angelina Jolie, BRCA testing, Genetic counseling, genetic counseling referral, genetic counseling workload, hereditary breast cancer, hereditary ovarian cancer, motivators for genetic testing, patient decision making

by Robert Resta | April 16, 2013 · 10:40 PM

And Bob’s Your Uncle: A Guide To Defining Great Aunts, Great-Great Grandparents, First Cousins Once-Removed, and Other Kinfolk

When genetic counselors attend family reunions, their unofficial job becomes Namer-of-Relationships. “Keith, you and I are first cousins once-removed. Viola is my great aunt. Margo, you are my mother’s second cousin’s second wife so you would be…..well, some kind of in-law or kissing cousin, I guess.” It gets confusing, even for experts. It is even more difficult for patients or referring providers who try to relate a family history of a second cousin with a cleft palate and a heart defect but who is actually a first cousin once-removed.

Below I have created a generic pedigree that illustrates the most common familial relationships in the kinship system of the modern Western English-speaking world. The pedigree undoubtedly contains errors and omissions. So, in the spirit of crowd sourcing, I encourage my fellow pedigree wonks to scrutinize it and report mistakes, mislabelings, missing relatives, and thoughtful commentary in the Comments section below (this would also be a great discussion topic for a few hours of a genetic counseling student seminar).

Click to Enlarge

The accompanying explanatory table supplies details, controversies and inconsistencies. I am cowardly avoiding the complicated relationships that stem from assisted reproductive technologies such as donor eggs, donor sperm, surrogate mothers, etc. Of course, the person you decide to call Mother, Father, Uncle, Cousin, etc. is based not on genetic relationship but on personal experience, family preferences, and social norms.

For those not familiar with pedigree arcana, each individual is identified with a numbering scheme such that relatives in the first generation (at the top of the pedigree) are identified with a Roman numeral (e.g., I) and an Arabic numeral (e.g., 2). This indicates, reading from left to right, that I-2 is the second person on the first line of the pedigree. The next generation down is numbered II, and so on. Thus, IV-7 is the seventh person in the fourth generation and who is the the proband or propositus, the reference point for the relationships. IV-7’s father is III-3, IV-7’s paternal great grandfathers are I-2 and I-4, and so on.

There seems to be no widely accepted guidelines for when to include hyphens in a relationship name (e.g., great-grandfather vs. great grandfather). Since this is my blog post, I get to decide the grammatical rules. Thus, because I tend to be a minimalist, I hyphenate only when there is more than one “great” in a title. In the pedigree, I-1 is a great-great-uncle, but I-2 is a great grandfather. I also use hyphens in “removed” relationships (e.g., first cousin once-removed) because, well, it just looks right. Stepmother seems to be more common than either step mother or step-mother. However, “stepbrother” is infrequent. For consistency, I recommend the spaced-but-not-hyphenated style for “step” and “half” descriptors” (e.g., half brother, step mother).

An alternative graphic to describe family relationships is the Canon Law Relationship Chart.

Image from Wikipedia Commons, under the GNU Free Documentation License. http://en.m.wikipedia.org/wiki/File:Canon_law_relationship_chart.svg#section_2

The relationships illustrated in the pedigree are described as follows:

Self, You, (AKA Proband, Propositus): IV-7, the person who is the reference point for all relationships in the pedigree.

Parents:

Genetic Father: III-3

Genetic Mother: III-4

Step Parent: III-5, the new or former spouse of your genetic mother or father.

Siblings

Full Brother: IV-8. Male siblings with whom you share both genetic parents.

Full Sister: IV-9. Female siblings with whom you share both genetic parents.

Half Sibling: IV-10. A sibling with whom you share only one genetic parent. Or, as one of my patients said to me the other day “She is my half of a sister.”

Step Sibling: IV-11. A sibling with whom you share no genetic parents, e.g., the son your stepfather had with his previous wife.

Children

Son: V-2. A male child.

Daughter: V-3. A female child.

Step Child: V-1. The son or daughter that your spouse had with a previous spouse.

Grandchildren

Grandson, Granddaughter: VI-1. Your child’s son and daughter, respectively.

Great Grandson, Great Granddaughter: VII-1. The son and daughter, respectively, of your grandson or your granddaughter.

Grandparents

Grandfather: II-3, II-5. The father of your mother or father. But note the inconsistent use of grand and great. The brother and sister of your grandfather is your great uncle and great aunt (vide infra, Great Uncle, Grand Nephew). Presumably the word stems from the French grand-père, which itself goes back to the 12th century. Prior to the French influence, a grandfather was referred to as a grandsire, and prior to that, in Old English, the Germanic-derived ealdefæder or eldfader.

Great Grandfather: I-2, I-4, I-6, I-8. The father of your grandparent.

Grandmother: II-4, II-6. The mother of your mother or your father.

Great Grandmother: I-3, I-5, I-7, I-9. The mother of your grandparent.

Uncles, Aunts

Uncle: III-2, III-8. A brother of one of your parents

Aunt: III-1, III-9. A sister of one of your parents

Great Uncle: II-2, II-7. A brother of one of your 4 grandparents. I thought about recommending the less commonly used title Grand Uncle (or Grand Aunt) because these individuals are in the same generation as your grandparents. When they are referred to as Great relatives, it seems to imply that they are in the generation prior to your grandparents’ generation. I suspect, though, that Great is so well established that it is unlikely to replaced by Grand. And you share more genetic information with your Grandparents than you do with your Great Uncles, so perhaps using Great rather than Grand is an acknowledgment of that genetic difference (vide supra, Grandfather; vide infra, Grand Nephew vs. Great Nephew).

Great Aunt: II-1, II-8. A sister of one of your 4 grandparents

Great-Great Uncle: I-1. A brother of one of your 8 great grandparents. Note the slightly confusing terminology – the siblings of your great grandparents have two “greats” in their relationship title, compared to only one “great” in their sibling, your great grandparent.

Great-Great Aunt: I-10. A sister of one of your 8 great grandparents.

Nephew, Nieces

Nephew, Niece: V-4, V-6, V-5, V-7. The son and daughter, respectively, of your sibling.

Great Nephew (Grand Nephew), Great Niece (Grand Niece): VI-2, VI-3. The son and daughter, respectively, of your nephew or niece. In genealogy circles, it is more common to use Grand rather than Great, on the basis that this relative is as many generations removed from you as your grandparent is, only in the other direction. However, in my view, if the siblings of your grandparents are Great Uncles and Great Aunts, then it seems to me that there is greater symmetry in calling them Great Nephew rather than Grand Nephew. Besides, you share as much genetic information with your Great Nephew as you do with your Great Aunt, so from that standpoint it makes more sense to go with Great rather than Grand (vide supra, Great Uncle, Grandfather.

Cousins

First Cousin: IV-1, IV-2, IV-3, IV-4, IV-12, IV-13, IV-14, IV-15. The children of your aunts and uncles.

Second Cousin: IV-16. The children of your parents’ first cousins.

First Cousin Once-Removed : V-8, III-10. The children of your first cousins OR the parents of your second cousin (who could also be properly called your second cousins once-removed). Once-removed refers to the fact that the relative is one generation removed from you, either one generation above or one generation below. The children of your second cousins could also be called your second cousins once-removed. This is one of the confusing areas where different relatives can have the same title and the same title could be applied to different relatives.

First Cousin Twice–Removed: VI-4. The grandchildren of your first cousins.

Unnamed Relationships:

IV-5, III-6, III-7. As far as I am aware, in Western European kinship systems, there is no title for your spouse’s previous spouse IV-5), your step parent’s previous spouse (III-6), or the previous spouse of your step parent’s previous spouse (III-7).

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Tagged as family relationships, genealogical relationships, genealogy, Genetic counseling, pedigree relationships, pedigrees, relatives

by Robert Resta | April 10, 2013 · 7:50 AM

Customer Disservice?

“Words used carelessly, as if they did not matter in any serious way, often allowed otherwise well-guarded truths to seep through.”
― Douglas Adams, The Long Dark Tea-Time of the Soul

Vocabulary is never just a bunch of words. Consciously or unconsciously, word choices reflect underlying ethical, moral, and philosophical values. Which brings me to why I have a problem with the growing trend to embrace the Customer Service Model of Patient Care.

Genetic counselors wake up every morning and go to work because we are driven by a desire to help people. We strive to use our skills to alleviate the psychological and physical turmoil dealt by the cruel and impersonal hand of Genetic Fate. We encourage patients to pour out their sadness, anger, fear, and insecurity in the safe havens of our offices where we offer comfort, unquestioning support, and some hope in their darkest hours. We want their lives to be better for having met with us. I witness this same deeply ingrained desire to help patients in many of my health care colleagues – physicians, nurses, imaging technicians, office staff.

So what’s not to like about the Customer Service Model of Patient Care? It encourages health care providers to be supportive and respectful, and to put patients at the center of clinical encounters. Customer service skills in the clinic are important to our relationships with referring physicians, and for genetic counselors who work in lab positions where they interact primarily with health care providers.

My uneasiness with the Customer Service Model stems from the implications of referring to patients as customers. Think about it. Labeling people as customers subtly focuses the health care interaction on profit. Patients are stripped of their emotional and physical vulnerabilities and reduced to revenue sources. It is downright disrespectful. Why should I feel compassion for patients if I am trying to convince them to fork over their hard-earned money?

The message communicated by the vocabulary is not “Let us try to alleviate your suffering and to care for you as human beings.” Rather the message is “I am being nice to you so you will keep coming back to my store.” And, inevitably, models of customer service developed by highly successful corporations like Amazon, Nordstrom’s, and Starbucks are held up as paradigms for healthcare providers to emulate. Scripted patient interactions and Greeters at hospital entrances cannot be far behind. But corporately-mandated niceness can be as transparent to patients as a pair of Lululemon yoga pants.

Typically, the Customer Service Model is presented as a clever acronym, such as MAGIC, ACES, FISH!, or HEAT. Does anyone sincerely believe that the complex interaction between health care provider and patient can be simplified to a conveniently bulleted PowerPoint slide?

I am not a financial naif. I am acutely aware of the dire economic status of the American health care system, the razor-thin profit margins of hospitals, and the critical importance of a fiscally sound organization. But there is no reason to believe that the Customer Service Model generates any more income or additional business than empathic providers and highly competent medical care. Indeed, keeping the focus on the patient – rather than the customer – has the potential to increase hospital revenue because it implies that health care providers are emotionally invested in the care of their patients.

The possibility that patients might think that the medical encounter is financially driven is re-enforced when they walk into physicians’ offices where nutritional supplements, skin care products, eyeglasses, and other medical “accessories” are offered for sale. If patients are led to believe that we view them as customers, then it could reduce their trust in us and the care we provide. Why should patients trust our medical advice if they think we are trying to profit from their suffering? This makes it all the more critical to stay sensitive to the appearance of conflicts of interest and to our blind spots.

We cannot honestly say to ourselves “Well, I know I am calling them customers, but I don’t really think of them as customers.” As George Orwell pointed out, language can corrupt thought as readily as thought can corrupt language. We must choose our words carefully.

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Tagged as customer service in health care, Genetic counseling, patient care model

by Robert Resta | February 20, 2013 · 11:52 AM

Screening Everyone For Everything: A Changing Model of Screening For Carrier Status of Genetic Diseases?

The heterozygote carrier screening paradigm is starting to shift from ancestry based screening for carriers of a single or a few genetic diseases to pan-ethnic screening for carriers of a wide range of genetic diseases. New techniques of DNA sequencing make it possible to test a single sample to determine carrier status for dozens of genetic conditions at prices that make carrier screening panels (CSPs) very tempting to healthcare providers and patients. Since carrier screening for one or another genetic disease – cystic fibrosis, Tay-Sachs, hemoglobinopathies – is already offered to essentially all women who are pregnant or planning a pregnancy, why not “screen everyone for everything” at no greater up front cost? And it doesn’t even require a blood sample; a less intimidating buccal sample works just fine.

Part of the understandable justification to move beyond targeted carrier screening programs is the futility of trying to classify people into distinct ancestry/racial/ethnic categories. Gene mutations and genetic diseases have a pesky habit of flowing fluidly between populations, and cultural heritages can be lost through assimilation (See Interesting Digression* below).

So why object to CSPs? After all, don’t people have a right to “know their DNA” and to understand what health and reproductive risks they face?

I am not suggesting that we should stand in the way of anyone’s wishes to “know their DNA.” If someone chooses to acquire that knowledge without the benefit of meeting with a genetic counselor, well, I may disagree with that decision but I respect it. But whether people decide to undergo carrier testing through a genetic counselor or through an online testing company, they need information that is forthright, complete, and transparent; they do not need subtly biased sales pitches. Private companies do not have a vested interest in talking people out of genetic testing.

Before we examine how some labs “objectively” describe carrier screening to patients, we must acknowledge an ethically uncomfortable truth. Carrier screening does not consistently lead to better treatments, encourage greater tolerance of disabilities, stimulate research into cures, or improve psychosocial adaptation to genetic disease. The only compelling reason to devote economic and medical resources to carrier screening is to reduce disease incidence. For better or worse, that is the measure of success of Tay-Sachs screening in Ashkenazi Jews and thalassemia screening on Cyprus.

Three strategies can reduce the incidence of genetic disease. One is mate selection based on carrier status, which is rare except in select populations such as Ultra-orthodox Jews (Hey Single Women out there, when was the last time you met potential Mr. Right and said “Er, you can buy me a drink but do you mind if I take a pedigree and a cheek swab from you before I give you my phone number?”). A second approach is preimplantation genetic diagnosis, but it is available to only a miniscule percentage of the population. The third and only realistic option for most patients is the elephant in the room – prenatal diagnosis with termination of affected fetuses.

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Take a look at the web sites of companies such as Counsyl or 23andMe and you get a different narrative. The word “abortion” does not appear. Instead, you read about sperm/ovum donation, preimplantation diagnosis, mental preparation, watchful waiting, and early treatment. No mention is made that early treatment requires testing the baby anyway and that some treatment is available for only a handful of the screened conditions. The websites do not bring up the point that there are no large-scale studies that have shown better familial adaptation to genetic disease when parents have prenatal awareness of their carrier status, so couples really cannot know if testing really will result in mental preparedness. And I am still not sure what watchful waiting is, and how it differs from mental preparedness.

A second concern is that screening for very rare conditions plays on the emotionally vulnerable state of many pregnant women and the difficulty almost anyone has in understanding very, very small numbers in a psychologically meaningful way. Take for example, a condition that has an incidence of 1/100,000 births with a 75% carrier detection rate. Before carrier testing, a couple would have an ~99.9999% of NOT having an affected child; after carrier testing that probability would increase to ~99.99999%. Really, who can tell the difference between those two statistics? It’s difficult just trying to count the number of nines in those numbers. But read about the condition’s severe intellectual disabilities and physical birth defects, and, damn the statistics, give me that test.

A third concern is the lack of complete information about test sensitivity on the information portion of the website. For example, a patient with normal carrier test results might understandably think they would not have to be concerned about having a child with Bardet Biedl syndrome. What the site does not indicate however is that BBS1 and BBS10, the two loci included in the panel, account for less than half of patients with Bardet Biedl syndrome, and that the dozen or so other genes that can cause Bardet Biedl syndrome are not included in the test panel.

A fourth, and maybe the greatest, concern is the ethical difficulty of deciding which conditions to include on a CSP. Tay-Sachs screening among Ashkenazi Jews and thalassemia screening in Cyprus developed with significant input from families, medical professionals, and community and religious leaders. There was widespread agreement in those communities that these were serious diseases and that carrier screening, mate selection, or prenatal diagnosis were ethically acceptable ways of reducing disease incidence. Very little community dialogue has taken place over CSPs. Do we really believe that the world is a better place if we screen for carriers of a common form of hereditary deafness or, God help us, red hair color?

And ruminate on this: a study of 3 million cystic fibrosis carrier tests performed at a single US lab found that 25,000 CF carrier screens needed to be performed to detect one affected fetus. And this is for a relatively common genetic condition with a frequency of about 1/4000 US newborns and a screening program whose success remains debatable. How many carrier screens will need to be performed to detect a fetus or newborn with a rare disorder like isovaleric academia, with a frequency of 1/250,000 births?

It could be that I am just the last of the old wave of genetic counselors who are out of touch with new technologies and changing ethical values, the proverbial last leaf on the tree. Maybe I am a 20th century genetic counselor in a 21st century world in which private industry will become the primary mode for the delivery of medical genetic services. Perhaps when I retire in a decade or so the genetic counseling community will issue a collective sigh of relief. But sometimes Old School cranks have a point.

* – Interesting Digression: I recently learned about the Jews of Acadiana, Jewish merchants who settled among, and who were often culturally and reproductively assimilated into, Louisiana’s Cajuns (although the Cajun Tay-Sachs mutations stem from their French Canadian origins and predates the Ashkenazi admixture). Also, an exploration of why Tay-Sachs screening caught on among Ashkenazi Jews but not among Cajuns would make for an interesting socio-medical-historical study. If a large scale Tay-Sachs screening program were to be introduced among Cajuns, perhaps its motto would be Laissez les bon genes roulez.

Accordion

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Tagged as carrier screening, carrier screening panels, ethics of carrier screening, Genetic counseling

by Robert Resta | January 30, 2013 · 5:42 PM

The Resta Paradox: On The Perception of The Likelihood of Rare Events

Genetic counselors – and their clients – tend to make a big to-do about numbers. We expend a disproportionate amount of energy calculating, reciting, and explicating numbers such as the complication rate of amniocentesis, the likelihood of Down syndrome, bayesian probabilities, or empirical recurrence risks. Sometimes we even pull them out of thin air. Those statistics pass through patients’ psychological, cultural, social, and educational filters and out of the other side comes a figure that more often than not bears little resemblance to the number that went in.

Counseling strategies attempt to reduce anxiety by downplaying large numbers when it comes to undesirable outcomes (“A one in four recurrence risk means a 75% chance that it will not happen again”) and reframing small numbers for patients who perceive a low likelihood outcome, such as 1/500, to be a very “high” number (“One in five hundred means there is over a 99% chance this will not happen. If you were to score a 99+% on a difficult test in school, you would be very happy. That’s an A+!”).

But reframing can sometimes backfire. For many patients, rare events are paradoxically perceived to be more likely to occur than high likelihood events. The rarer the event, the more some patients are convinced that it will happen to them. This phenomenon, which I have immodestly labeled The Resta Paradox,* is a sort of corollary to Murphy’s Law.

Just about every genetic counselor has heard some variation of this statement “I know that one in 50,000 is pretty unlikely, but if it’s going to happen to someone, it’s going to happen to me.” To demonstrate how he or she is one of those people whom the Gods have chosen to be the object of their malefic whims, patients will then cite a litany of rare catastrophes that have previously befallen them:

“My surgeon said she never had a patient develop a complication after surgery, but I got an infection.”
“One time, a piece of an airplane broke off, fell put out of the sky and crushed my car.”
“I took lisinopril and developed a never before reported side effect and I was in the hospital for a week. They even wrote an article about me” (The patient will then look at you, hoping that you will say that you were familiar with the article).

The seemingly contradictory availability heuristic for these patients is “Rare events have happened to me before. Therefore, I am likely to experience rare events in the future.”

In my favorite example of how reframing can sometimes spectacularly go awry, a colleague once described to me a genetic counseling session in which she told the patient that the risk of recurrence of the particular disorder was as likely as getting struck by lightning. The patient replied “As a matter of fact, I have been struck by lightning.”

Such magical thinking is surprisingly common. It does not necessarily mean that a patient suffers from innumeracy. Most people are perfectly capable of balancing their checking accounts, completing income tax forms, and accurately summing long columns of numbers. Complications arise, though, when patients try to assign an emotional value to a number or a risk, especially when trying to make a complex medical decision.

I have also encountered The Resta Paradox among patients who make their living off of understanding numbers, such as statisticians, engineers, and epidemiologists. Even these professionals have a hard time comprehending rare events and very large/small numbers in psychologically and personally meaningful ways. Life is complicated and highly unpredictable, and we all try to make sense of it however we can, sometimes in seemingly inconsistent ways.

And you can call me Mr. Guilty too. At my institution’s Tumor Boards, I am infamous for frequently stating that I worry most about my low risk patients who undergo BRCA testing, since they always seem to test positive for a mutation while my highest risk patients almost never carry a mutation. Interestingly, in support of my paradoxical thinking, BRCA risk carrier prediction models tend to under-predict carrier status in low risk patients and over-predict carrier status in high risk patients, so perhaps my thought process is not entirely magical. Or maybe computers engage in magical thinking too. MR900283911

On a deeper psychological level, believing oneself to be a statistical outlier may be part of the general impulse to view oneself as special, a way of saying “I have an unusual trait that makes me different from others in an interesting way.” It may also be a defense mechanism to psychologically prepare for a bad outcome so that, should it occur, the individual is better prepared to deal with the stress.

The Resta Paradox serves to remind us of a lesson we seem to need to be reminded of repeatedly: Numbers, though a critical component of many genetic counseling sessions, are not the endpoint by which to measure the effectiveness of genetic counseling, but rather are the point at which genetic counseling begins. It’s not the number that matters; what is important is how and why that number matters to the patient.

* – Hey, it’s a lot better having an insightful paradox named after me than a medical syndrome.

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Tagged as availability heuristic, Genetic counseling, interpreting genetic risks, patient perceptions, rare events, risk interpretation, risk perception

by Robert Resta | November 11, 2012 · 4:43 PM

Resistance Is Futile: A New Paradigm for Genetic Counseling?

For with this detection there arises new lines of approach in the field of preventive medicine, and the sociological consequences may be far-reaching.

– James V. Neel, from his 1948 plenary lecture, “The Detection of The Genetic Carriers of Hereditary Disease”, delivered at the first annual conference of the Human Genetics Society of America (which eventually changed its name to the American Society of Human Genetics)

The technical advances in genetic testing over the last 5 years have been stunning. Much of what I thought of as Not Going To Happen For A Long Time has now happened yesterday. Along with these breakthroughs is the unstated but increasingly common suggestion that everyone should taste the fruit of testing in Gregor’s Genetic Garden of Eden.

In the old days (like a year or two ago) only a small portion of the patient population were thought to be candidates for genetic testing, those for whom it made medical sense and who were emotionally ready for the ramifications of the knowledge. Genetic counselors used their skills to help patients select the appropriate test and to guide them through the clinically, emotionally, and financially complicated decision-making process. Some chose to undergo testing while others delayed or declined it. We did not really care what patients chose to do; our role was to go through the wringer with them.

Now, though, this model of genetic testing only for the select few may be replaced in the near future by the idea that everyone – healthy, sick, high risk, low risk – should have genetic testing. Population scale genetic testing, with its promises of personally tailored medical care and better health outcomes, assumes that everyone – except for a handful of Luddites, people who do not own mobile phones or have Twitter accounts, Flower Children, and conspiracy theorists – will incorporate DNA into their routine medical care. Genetic testing becomes a foregone conclusion, not an ethically and emotionally weighty matter to be carefully explored and considered. If everyone has a genetic test and everyone carries gene mutations, doesn’t that make everyone a patient?

Think I am overstating my case? Perhaps. Then again, recall the many professional and popular articles you have read that are variations on this theme: The time is near when you will walk into your doctor’s office with an inexpensive DNA Chip that contains your entire genome and that will guide your doctor in choosing the best medications for you and select the most effective screening tests. You will live to be 100, enjoy a lusty sex life, and have healthy children. While the $1000 genome may not be a shining example of truth in advertising, affordable genetic testing is upon us.

A second case in point is the introduction of cheap carrier testing for a huge number of mostly obscure genetic conditions, what has come to be called Universal Carrier Screening. I will risk stating the obvious and point out that the word “universal” implies that the test is for everyone. At $99, it is hard to say no.

A third case in point is newborn screening, which is as close as it gets to universal genetic testing. The conditions screened for with those heel sticks continues to increase but the primary justification is not “treatment before symptoms develop.” Rather, testing is predicated on reducing the number of families caught in The Diagnostic Odyssey, that emotionally and financially draining parental journey to find out what medical disorder their child may have. Based on this premise, there is no logical stopping point for including disorders in a newborn panel. Every genetic disease is a potential source of a diagnostic odyssey. In fact, the rarer the syndrome, the better it is for inclusion in newborn screening since uncommon conditions are less likely to be diagnosed by most practitioners.

Another area of pervasive genetic testing is the recommendation for universal fetal aneuploidy screening during pregnancy, made even more tempting by high detection/low false positive non-invasive tests.

Genetic screening is offered to everyone prior to conception, during pregnancy, and at birth. Testing all adults allows the rest of the camel into the tent.

Genetic counselors are not the driving force behind universal genetic testing, although undoubtedly we have some complicated role. As I have discussed elsewhere, we probably have less influence on patients’ decisions than we think. Larger social, economic, and ethical forces are at play, in much the same way that the introduction of amniocentesis, newborn and carrier screening, and the birth of the genetic counseling profession were all products of their times.

The role of genetic counseling when it comes to genetic testing, then, may no longer be primarily to help patients make decisions. Instead, genetic counselors may become Phenotype Counselors who interpret and integrate results of genetic tests that were run – and possibly chosen through online services – before patients walked into our offices.

Ilana Löwy’s book “Preventive Strikes: Women, Precancer, and Prophylactic Surgery”

If I am right, genetic counselors are likely to encounter controversies and dilemmas. Ethical values like nondirectiveness and autonomy become less forceful if individually tailored health strategies can help prevent or attenuate serious illness. Think of how many oncologists consider their high risk cancer patients crazy for not having BRCA testing or believe that known BRCA mutation carriers are making poor choices for not undergoing risk-reducing surgeries.

Eugenic concerns, the voice and dignity of the disability community, the psychological sequelae of coping with test results, and worries about the other downsides of genetic testing may be pushed to the wayside by the power of the still unproven assumption that medical spending will become more cost-effective, clinical decisions will be wiser, and everyone will be healthier if their genomes are analyzed. In fact, people with disabilities themselves will likely see some treatment and diagnostic benefits from genomic testing. And because laboratories and lab-based counselors will likely play critical roles, defining and protecting against conflict of interest becomes even more critical and complex.

Both good and bad will come out of universal DNA testing, though it is difficult to predict what measure of each. But so much genetic information available on so many people must give one pause. The history of genetics demonstrates that every advance in genetics is fraught with social complexity and dangers. We may have a more sophisticated knowledge of genetics than our predecessors, but we are neither wiser nor more ethical.

I close by reminding you that knowing our past helps us better understand why we are here and what may happen if we go there. To that end, let me bring to your attention two recently published books about the history of genetic counseling and the history of medical genetics: Telling Genes: The Story of Genetic Counseling in America by Alex Stern (The Johns Hopkins Univ. Press, 2012) and The Science of Human Perfection: How Genes Became the Heart of American Medicine by Nathaniel Comfort (Yale Univ. Press, 2012). The authors, my good friends and colleagues, provide an informed and critical historical understanding of genetic counseling and genetic medicine. Everyone should read these books. It will do your souls – and your counseling philosophy – good.