Category Archives: Robert Resta

What Do We Mean By “Psychosocial” in Genetic Counseling?

Genetic counselors are proud of the psychosocial component that we claim to bring to patient care. Hey, we’re not just programmed human chat boxes, clever information-givers, or educators. We attend to the emotional and psychological needs of our patients and strive to transform our sessions into something closer to a psychoeducational experience, sometimes with psychotherapeutic effects. All that “psycho-” is what transforms genetic counseling from a cold clinical encounter into a humanistic endeavor.

Hence many readers may be upset when I suggest that we retire the sacred word “psychosocial” from our vocabulary. This bug was put in my ear by my esteemed colleagues Barb Biesecker, who has enough publications to fill 3 careers; Jehannine Austin, a world leader in psychiatric genetic counseling; and Laura Hercher, Renaissance woman and host of the genetics podcast The Beagle Has Landed.  I am authoring a chapter for their soon-to-be-published book (Genetic Counseling: Clinical Practice and Ethical Considerations, in the Cold Spring Harbor Laboratory monograph series Topics in Medicine). When I submitted my chapter they asked me to remove the word psychosocial from the text. Similarly, Barb Biesecker, Kathy Peters, and I are co-authoring a genetic counseling textbook to be published this Fall by Oxford University Press (Advanced Genetic Counseling: Theory and Practice), and “psychosocial” was dropped from that text too, unless my Find and Replace function missed a few instances.

It’s not that I or they think that genetic counseling shouldn’t have a psychological component. On the contrary, I and they think it is a defining element of our profession, even if in practice genetic counseling may be “less psychosocial” than we say it is. The point of contention is that “psychosocial” is too imprecise a term to be meaningful in a research or outcomes kind of way in the context of modern genetic counseling.

The term “psychosocial” arose in the social work profession in the early 1940s and is usually attributed to Gordon Hamilton, an influential Columbia University social worker. The aims of the psychosocial approach in social work are to “restore, maintain, and enhance the personal and social functioning of individuals through mobilizing strengths; supporting coping capacities; building self-esteem; modifying dysfunctional patterns of thinking, feeling, and relating to others; linking people to necessary resources; and alleviating environmental stressors.” You can see how this fits with what genetic counselors claim to do.

Historically speaking, it was natural for the fledgling field of genetic counseling to borrow some of its vocabulary from social work. Sheldon Reed famously and vaguely defined genetic counseling as “a form of genetic social work.” Joan Marks who, along with Melissa Richter, established the first genetic counseling training program at Sarah Lawrence College in 1969, was a social worker and perhaps this is where the term reflexively entered into the genetic counseling lexicon. Particularly during the first two decades of the profession, not a few genetic counselors were social workers (In my younger years, when there were far fewer genetic counselors, I was professionally acquainted with at least five social workers, two of whom helped train me). The psychosocial approach helped give genetic counselors a raison d’être that set us apart from clinical geneticists and provided a focus to our training and the care that we provide. The psychosocial paradigm in genetic counseling is embodied in Jon Weil’s 2000 classic text Psychosocial Genetic Counseling (Jon, by the way, was a psychotherapist, not a social worker).

But those were the early days when we provided a limited service to a narrow segment of the patient population. The psychosocial component  gave us a leg to stand on but now it seems like more 0f a crutch. At a half century old, genetic counseling can no longer be considered a new profession. The average age of its practitioners is much less than the age of the profession itself. Genetic counseling is now better characterized as a mature specialty. It’s about time we stood on our own two feet. I celebrate the outstanding work done by social workers but genetic counselor are not social workers, and vice versa.

Deep down, the fuzziness of the term has always made me uneasy. And let me tell you, Barb and Jehannine, two of the most passionate genetic counselors I have ever met, have far stronger criticisms of “psychosocial” than just its fuzzy qualities. Although a dictionary will provide a definition, in the setting of genetic counseling its unstated meaning is something like “those components of a genetic counseling session that are not strictly educational or technical.” It tells us nothing about assessing the effectiveness of the components or outcomes of genetic counseling; or how to improve them; or how to develop a scientific foundation for teaching, applying and researching genetic counseling; or how we can contribute to basic research into the human mind and behavior. For decades, genetic counselors were very poor at demonstrating their utility or effectiveness or at investigating those aspects of our service that were beneficial, harmful, or useless to patients (except in the Netherlands, which has consistently produced some of the best genetic counseling research, and a few other select researchers). This may have been in part due to the imprecision of the term “psychosocial.” That needs to change.

No doubt many of the good readers of The DNA Exchange will be angered, upset, and confused about the proposal to drop psychosocial from our vocabulary. And just plain disagree. Well, good. That’s one of the reasons I write this stuff. I want us to get worked up about genetic counseling, think hard about it, question its very core, and engage each other collegially. Those are the sorts of reactions we should have if we are as passionate about genetic counseling as Barb and Jehannine are and if we want to deliver the best possible patient care.

 

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Is GINA Unjust?

The Genetic Information Non-Discrimination Act (GINA) of 2008 is widely regarded by the the genetics community as a critical piece of legislation. GINA provides safeguards against using genetic information to discriminate against healthy people when they apply for health insurance and employment. In what seems like a legislative fantasy from the perspective of today’s polarized American political climate, GINA passed by a vote 95-0 in the Senate, 414-1 in the House of Representatives (Ron Paul of Texas being the lone dissenter), and signed into law by President George W. Bush. It doesn’t get any more bipartisan than that.

I don’t know if anyone has ever studied the impact of GINA on utilization of genetic counseling and testing but my clinical experience, and I suspect that of many of my colleagues, is that discussion of GINA is a component of many genetic counseling sessions. The protections of GINA play a key role in the decision of many of my healthy patients to decide to undergo genetic testing (although Americans have divergent views about health insurance, they have broad feelings of mistrust of health insurers). I am pretty sure that support of GINA among genetics community is as unanimous as it was among the 2008 Congress. Unanimous, that is, except for me. Well, kind of.

Now hear me out before you consign me to Tweet Hell (which, if Dante were to write the Inferno today, he would include it as a 10th circle of Hell, below the 9th Circle of Treachery’s frozen lake where Judas Iscariot resides for sub-zero eternity). I have not sold our genetic savior for a sack of silver and I am not opposed to protecting people from discrimination in insurance and employment. With the future of health insurance in America in question, the prospect that GINA or the Afforable Care Act might one day be repealed gives me a serious case of the fantods. My criticism is that GINA is unfair to people who might suffer discrimination in health insurance for non-genetic reasons.

 

GINA is an example of genetic exceptionalism, the term coined in 1997  by the widely respected bioethicist Thomas Murray to describe the belief that “genetic information is sufficiently different from other kinds of health-related information that it deserves special protection or other exceptional measures.” Genetic exceptionalism has implications for other aspects of genetic medicine in addition to health insurance protection, as my DNA Exchange colleague Allie Janson-Hazell discussed some 8 years ago. Genetic exceptionalism has generated a quarter century of unresolved debate, with supporters waving it as a banner and critics using it as sword to attack the other side. Like Murray, I am critiquing GINA from the perspective of distributive justice – the just distribution of goods and resources.

The starting point of my argument is that, in the absence of compelling reasons otherwise, everyone should have equal access to affordable health insurance. From that perspective, GINA gives the appearance of being a good thing because it helps produce a more equitable distribution of medical insurance among healthy people who have a family history of a genetic condition or who carry a pathogenic mutation. But this is where genetic exceptionalism rears its head. What is it about genetic information that is so special that it requires its own piece of protective federal legislation? There are many other bits of health information of equal or greater import in predicting future health. My own hemoglobin A1C and fasting glucose levels for one, which are in the “prediabetic range” (though I could be “cured” simply by moving north a hundred miles to Canada, where the cut-off for an elevated A1C is higher than in the US). A perverse effect of GINA is that – should the Affordable Care Act be repealed – my A1C levels could be used against me in applying for health insurance but I would be protected from that same discrimination by GINA if a polygenic risk score, a more uncertain predictor of diabetes than A1C or fasting glucose levels, indicated I had an increased chance of developing Type 2 diabetes.The same could be said for lipid levels, blood pressure, Protein C levels, HPV status, and any of a number of other data points that are uncovered when doctors start probing around in the fluids and bodies of healthy patients.

The net effect of GINA when it passed, and could happen again if the Affordable Care Act is repealed, is an unfair distribution of health insurance such that healthy people who have non-genetic risk factors are not afforded equal protection. And, to pack the wound with some salt, this “non-genetic” risk pool could wind up paying higher insurance premiums that result from greater costs incurred by insurers for covering protected people with genetic risk factors who eventually develop breast cancer as the result of a BRCA pathogenic variant or Huntington disease due to an HTT pathogenic variant.

So GINA falls short in the bigger picture of distributive justice. By privileging genetic information, arguing that it is somehow more important than other medical information, GINA results in economic and health care inequities. The unintended implicit territorial message of  the genetics community’s praise of GINA is “Hey man, our patients are protected and that makes GINA a good thing.” But the good that GINA achieves can lead us to ignore its downsides. As I have argued before, our sense of Do-Goodism can create significant blind spots. It is difficult to defend a law as being just if it privileges one group of people at the cost of harming or excluding another group of people for what appear to be arbitrary reasons. GINA is a symptom of America’s ailing health system, not a cure.


Thanks again to Emily Singh for her graphics work.

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On Being A Woman in A Woman’s World

The genetic counseling profession is overwhelmingly female. Like about 90-95%, pretty much worldwide. Always has been, and, not seeing any imminent factors that are likely to change that percentage, I am guessing that it will continue to be a “female” profession for the foreseeable future. I am not exactly sure why this is so, though its historical roots provide a partial explanation. The founding parents of the profession and the original students were female, and the first training program was established at Sarah Lawrence College in 1969, an educational institution that until 1968 matriculated only females. Heck, I first learned about the profession when I read an article in Working Woman magazine nearly 40 years ago. Being female, if you will, is in the profession’s DNA.

Given the predominance of females in genetic counseling, I am often asked “What is it like being a male in a ‘female’ profession?” I don’t have a very articulate or insightful answer, and I usually respond with a mix of glibness (“Well, there are shorter lines at the restrooms during annual conferences, now that women no longer take over the men’s restrooms like they used to when conference centers had fewer women’s restrooms.”) and thoughtful gravitas (“As a student and novice, it was difficult finding a male role model or mentor.”). Mostly, though, I just go to work each day and try to do my job as well as I can, and I usually don’t spend much time thinking about the impact of my gender on my interactions with patients or colleagues unless a particular set of circumstances warrants it.

The recent celebration of International Women’s Day got me to thinking about the obverse question – “What is it like being a woman in a woman’s world? What are the pros and cons?” No doubt there is significant variability among work settings, but based on years of observation of the profession and informal discussions with colleagues, I think that some of the potential benefits for women working with predominantly female colleagues and supervisors might be:

  • An abundance of smart, compassionate, assertive, and wise females to serve as role models.
  • More female clinical bosses, program directors, and – especially in the laboratory sector – mid- and upper level managers, implicitly communicating the message that you can rise up the power pyramid (though unfortunately there are still plenty of roadblocks in the upper echelons).
  • Greater support for pregnancy leave, dealing with family issues, and part-time employment.
  • With respect to genetic counseling colleagues and immediate supervisors, sexual harassment is probably much less likely to occur than when working in a male-dominant profession.
  • A historical record of tackling clinical, ethical, professional, and employment challenges that has resulted in the incredible expansion of job opportunities and scope of practice, tacitly suggesting that young genetic counselors can – and are expected – to continue this tradition.

There are also downsides to working in a pre-dominantly female environment. Until relatively recently, salaries could be shockingly low because women everywhere have always gotten the raw end of that deal. Another significant problem is that when men have power over women, it not uncommonly manifests in inappropriate sexual language and crude behaviors. Even if all of your genetic counseling colleagues are female, there are still plenty of male health professionals and administrators that you interact with. This environment can foster both subtle and blatant sexual harassment. The blinkers fell from my eyes about this issue when I was looking for a job right after graduation school. At one interview, I met with several male non-genetic providers who I would be interacting with. One of them looked at me and announced to the group “Well, this counselor’s breasts are a lot smaller than the counselor he would be replacing.” I was stunned by the statement, though I am ashamed to admit that I was too young and insecure to call him out on it. But it made me acutely aware of the pressures and tensions that women face when trying to deal with men on a professional level. As the Tom Waits song goes, there just ain’t enough raised right men.

Although women have made great strides in genetic counseling in gaining acceptance by patients and health professionals, there is still a glaring gap in the respect afforded to women based on their gender. In my clinical practice, patients and even providers very commonly refer to me as Dr. Resta, no matter how hard I try to disabuse them of that notion. This even after the patient has just signed an insurance coverage agreement form that specifically states that I am not a physician and I just handed them my business card that has no mention of an MD degree. Yet my female genetic counselor colleagues – even those a few decades closer to my age – are only occasionally referred to as “Doctor.” There may be several reasons for this but undoubtedly my gender triggers a near autonomic reflex to refer to me as Doctor.

I recognize that my observations are limited by the implicit biases inherent in being an upper-middle class white male. I am usually unblissfully unaware of the ways that my world view is filtered by my gender, heterosexuality, and socioeconomic status. So please tolerate and/or point out any of the blind spots in my speculation. But mostly I want to hear from the Good Readers of The DNA Exchange about their personal experiences – What is it like working in a predominantly female profession?

And while I am thinking about it, it would be equally interesting to hear about the professional views of genetic counselors who are ethnic minorities, are other than strictly heterosexual, have disabilities, or are otherwise under-represented. I encourage you to consider writing a piece for The DNA Exchange about the good, bad, or whatever experiences you have had in working in a profession where you are not quite like everyone else.

 

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The Benefits and Blinders of Do-Goodism

“All human beings are commingled out of good and evil.” Robert Louis Stevenson, author of The Strange Case of Dr. Jekyll and Mr.Hyde

Genetic counselors are good people who want to do good. And that also goes for the vast majority of clinicians in all specialties and support staff who I have ever worked with. We may have brief dalliances with cynicism but overall we strive to be highly competent professionals who deliver compassionate care to patients in hopes of improving their physical and emotional health in small and large ways. We subscribe to the ethos of Do-Goodism – we strive to do good because it is the right thing to do. It’s why we drag ourselves out of bed and show up for work every day. It sure isn’t out of love for the daily commute, an overloaded work schedule, or the out-of-touch-with-reality dictates of upper level management.

Do-Goodism is a, well, good thing. There should be lots more of it in the world (especially among governments). But Do-Goodism has its downsides. Okay, let me stop right there. I am not criticizing Do-Goodism nor am I advocating for D0-Badism. So don’t accuse me of criticizing people for being good. But a  problem inherent to Do-Goodism is that can make it very difficult for us to see and acknowledge that when we try to do good things there can be bad outcomes. Our Good Filters block out the Bad Rays generated by our well-meaning actions. Recall what the road to you-know-where is paved with.

A good historical example of the blinders of Do-Goodism is eugenics, that bogeyman of every historical narrative of genetics. While nowadays we look down on eugenics with moral scorn, in fact, with a few obvious exceptions, many eugenics advocates in the US, the UK, and elsewhere genuinely thought they were improving not only the greater good of society but also the “dysgenic” families themselves. Philosophically, eugenics may have been closer to “a kind of genetic social work” than Sheldon Reed would have been comfortable acknowledging. Another historical example are the 19th century alienists who ran the so-called madhouses – whose records were critical to the development of modern genetics and eugenics – where “lunatics” were housed and supposedly cured with fantastical rates of supposed psychiatric problems such as masturbation and menstrual disorders.

Br. Benjamin Rush’s Tranquilizer for treating patients with mental illness. It “binds and confines every part of the body … Its effects have been truly delightful to me. It acts as a sedative to the tongue and temper as well as to the blood vessels.”

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Do-Goodism still pervades genetic practice today, albeit in different forms. We sometimes advances policies, practices, and tests in the name of “helping people” when the benefit/downside ratio has not been well established. In my own practice of cancer genetic counseling, I think of how seamlessly BRCA testing has expanded to gene panels that include dozens of genes, many of which are of uncertain clinical utility. Even after ~25 years of research on BRCA we still debate the lifetime cancer risks, the mortality reduction of risk-reducing mastectomy, and the benefits of endocrine prophylaxis. In the US, Lynch syndrome patients are encouraged to join The Annual Colonoscopy for Life Club but the data is still not settled as to whether an annual colonoscopy is more beneficial than less frequent exams . And these are the genes that we know fairly well. The clinical implications  and best risk-reducing strategies for carriers of other typically tested genes like NBN, RAD51D, or BARD1 are pretty much anyone’s educated guess.

There are complex reasons why gene panel testing has become so widely incorporated into medical care. but I am pretty sure one of the motivating reasons we offer panel testing is that we think that by “finding an answer” to explain the family history, we are benefiting our patients. But are we really helping these patients by offering breast MRI screening with its high cost and false positive findings, risk-reducing surgeries, etc.? Are we explaining their family histories with these tests? Maybe we are, maybe we aren’t. We should have had that answer in hand before the testing was incorporated into clinical practice instead of turning a bunch of clinical patients into an unplanned and haphazard research project.

This was brought into sharp focus for me with a BRCA positive kindred I have been working with. A family member was identified as an asymptomatic BRCA mutation carrier, subsequently underwent risk-reducing surgery, and an occult Fallopian tube cancer was identified at an early enough stage that cure was highly likely. This made me feel like I should notch a victory mark on my belt. After all, preventing ovarian cancer is understandably offered as one of the urgent justifications of BRCA testing. I felt that I pulled the rug out from under ovarian cancer’s evil legs – until the patient died of complications of MRSA acquired during her hospital stay. And this in a situation where everyone would agree that the data strongly supports surgical risk-reduction. Should we be risking such outcomes by offering testing for genes in which there is no large body of research to support clinical recommendations?

Do-Goodism also pervades other areas of genetic testing and counseling. Expanded carrier screening. Noninvasive Prenatal Testing. Advocating for whole exome sequencing of newborns or of healthy adults. Direct-to-Consumer genetic testing. Clinicians and labs offer these tests in the name of helping people and democratizing genetic testing, but this can lead us to psychologically manipulate ourselves into ignoring or downplaying studies that suggest that maybe we should step back before we aggressively offer these tests. The blinders of Do-Goodism can be further exacerbated when our jobs seem to compel us to offer bigger and supposedly better tests to keep up patient volumes or corporate profits. Do-Goodism is not confined to genetics, of course. It also underlies long-standing debates about routine mammography, PSA screening for prostate cancer, and cardiac defibrillators in medically fragile elderly patients, to name a few.

We are not bad clinicians or evil profiteers, just human beings struggling with our psychological limitations. It’s why we need to thoughtfully listen to thoughtful critics who question our clinical practices. They make some very good points but only if we can allow ourselves to see them.

 

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There Ought To Be A Word For That

Sometimes we don’t have the professional vocabulary to describe certain common counseling situations or patient experiences. So, as a service to my genetic counseling colleagues, I offer the below terms, acronyms, groaners, and neologisms to fill in some of the gaps in our lexicon. A few have nothing to do with genetics but I thought I’d claim author’s prerogative and include them anyway.

Roomba Session – A genetic counseling session with a patient whose thoughts, questions, and concerns are expressed in a stream of consciousness, non-linear fashion, jumping in a seemingly random manner from topic to topic, like a robot vacuum cleaner (hoover, for UK readers) pinballing around your living room floor. The apparent randomness is usually a function of the genetic counselor’s viewpoint; to patients, their comments and questions make perfectly logical sense (To raise a tangential paradox, if someone describes a vacuum cleaner by saying “It really sucks!” does that mean the device is a really good vacuum or a really bad vacuum?).

Portrait Session or Rembrandt Session – A genetic counseling session with impassive patients who never change their facial expression, i.e., like they are sitting for a portrait. They speak occasionally and then only in short non-emotional statements or “Mmmhmms,” despite your best efforts to engage them in meaningful dialogue with open-ended questions and probing statements. You never quite know where you stand with them or what they got out of your time together.

Gene Selfie – When healthy consumers undergo exome or genome sequencing without a clinical indication, just to see what their genes look like, and then share it with everyone on their social media accounts.

MTPNTUS – Acronym for Maybe This, Possibly Not That, Uncertain Significance. What many consumers learn about their hereditary disease risks from a gene selfie.

SOTSOT – Acronym for Some of This, Some Of That. What many consumers learn about their mixed ancestry after undergoing DNA-based ancestry testing, e.g., some German, some English, some French, a little bit of Neanderthal.

“I just got my Hominin Ancestry DNA results and I found out that I am 25% Denisovan! My father would be so upset if he knew – he thought they were an evolutionary dead end. And in a hundred thousand years my descendants will be 25% Irish, 30% Germanic, 25% Slavic, 18% Spanish, and 2% Ashkenazi Jewish. And Genghis Khan will have 5% of my DNA.”

Man-cestry Testing – Ancestry testing based on Y chromosome markers.

Manicure – Ridding a man of obnoxious common male habits and behaviors like manspreading and mansplaining (for the women reading this, let me explain what these terms mean …..).

Circumvent – The parental decision to avoid having their son circumcised. Among Jews, this can be much to the chagrin of mohels and mohalots.

There are two experiences that occur during the simple act of walking that are common occurrences in all of our lives and yet there are no words for them in the English language. The first of these is when two people, often strangers, are walking towards each other from opposite directions on the same side of the street or hallway. When they get close, they both maneuver in mirror-image to each other, simultaneously sidling in the same mirror-image direction several times to avoid walking into each other. It is often followed by the question “Shall we dance?” The motor vehicle equivalent occurs when two cars arrive simultaneously at right angles to each other at a 4-way Stop. Both cars inch out at the same time, then continue to stop and start synchronously, until one driver finally gives up and signals with either a hand wave or a flashing of headlights for the other driver to go first.

The other unnamed common experience is the uncanny ability of slow-walking people to obliviously occupy all the available walking space such that it is impossible to walk around them without bumping into them or seriously  breaching their personal space. I have found it to be common in hospital hallways, where I often encounter several families members walking 3 or 4 abreast, like an O-line trying to prevent the defense from tackling the quarterback. The frequency of such encounters in hallways and streets has dramatically increased over the last decade because nearly everybody is looking at or talking into their smartphones while walking. Nothing against walking slowly; we all walk at our own comfortable paces. Just do so with a sense of awareness of the world around you.

Do any of the Good Readers of the DNA Exchange have suggestions for terms to describe these latter two phenomena? How about terms for other common but unnamed genetic counseling experiences?


Yet again, many thanks to Emily Singh for help with graphics.

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A Diagnosis Is Not The End Of The Odyssey

by Robert Resta, Jennifer A. Sullivan, Allyn McConkie-Rosell

Allyn McConkie-Rosell, Ph.D., CGC, is a Professor in the Division of Medical Genetics at Duke University Medical Center. Jennifer A. Sullivan, MS, CGC is a
Senior Genetic Counselor in the Division of Medical Genetics at Duke University Medical Center. Robert Resta, MS, CGC, is a genetic counselor at Swedish Medical Center in Seattle and a frequent contributor to The DNA Exchange.

The Diagnostic Odyssey – that meandering, lengthy, and frustrating quest for a diagnosis. Genetic counselors, medical geneticists, and patients with rare disorders and their families are achingly familiar with it. The allusion to Homer’s Odyssey is apt. Odysseus’s decade of wanderings are replete with perils, disappointment, love, wonder, whimsical gods, adventure, and frustration. Surely some specialist somewhere in the world can tell me what condition my child has been born with, and I will brave the wine dark seas for as long as I must to find that expert! Genetic testing technologies like whole exome/genome sequencing have shortened the quest for many patients, though perhaps not as often as one would have hoped.

The label Diagnostic Odyssey suggests that the diagnosis is the end of the odyssey. And therein lies the problem. Many families and patients discover that a diagnosis does not necessarily allow them to settle down happily with Penelope in the kingdom of Ithaca. A successful diagnostic workup may be the end of the odyssey for clinicians, but for patients and families the diagnostic quest is just one phase in the life cycle of genetic disorders.

A diagnosis may answer some questions such as cause and recurrence risk, but it can also create a whole new set of issues. For patients diagnosed with ultra-rare conditions, families may be faced with frustration from a lack of available knowledge about treatment or prognosis. Even if medical interventions are possible, finding and accessing those resources, and getting health insurers to pay for them, can be a major undertaking. Or a condition’s rarity may make it impossible to form an effective patient/family community to provide advocacy and support. The diagnostic odyssey may result in some patients feeling like diagnostic oddities.

If a newly diagnosed syndrome turns out to be untreatable or life-shortening, parents may lose all hope and descend into existential despair. A non-diagnosis at least holds the glimmer of a chance for a treatment or cure out there somewhere. Patients who have a diagnosis changed from a previous incorrect diagnosis may lose the sense of identity and support supplied by the disease community that they had been involved with for years.

The label Diagnostic Odyssey focuses on one medical aspect of a condition. Clinicians can take much-deserved professional satisfaction in having finally solved a long-standing mystery. But for many families, living with a genetic condition is not a temporally demarcated event and, above all, not only a medical experience. Patients will also still need to implement strategies and solutions to the social, educational, lifestyle, and psychological ramifications of the disorder. It is an ongoing journey, one that continues to unfold as patients age and develop new symptoms, family structures evolve over time, medical treatment advances, and sociocultural changes re-shape attitudes toward inclusivity and the availability of resources. A genetic condition, named or not, will continually present new challenges throughout the entire life of a patient.

We do not mean to imply that a diagnosis is unimportant. We recognize the emotional and potential medical value of finally “putting a name on it.” But the name just points the ship in a new direction to unexplored regions with different threats, problems, and rewards.

Perhaps the Diagnostic Odyssey label needs to be retired or renamed to more accurately reflect its role in the process of living with, and adapting to, genetic conditions. So we turn to the Good Readers of The DNA Exchange to offer their suggestions – what do you think?


Genetic Counselor Talent Show Friday, November 16th

Are you attending the 2018 Annual Education Conference of the National Society of Genetic Counselors in Atlanta next week? Worried that days of  PowerPoint presentations and polite applause will make you forget what fun is? Want to have a blast one evening and see your genetic counseling colleagues in a very different light? Then attend the Genetic Support Foundation’s GC’s Got Talent  2018 genetic counselor talent show on Friday evening November 16th. Cancel all your other evening plans for Friday, November 16th. Trust me – there will be nothing even close for entertainment. With Yours Truly, Bob Resta, as Master of Ceremonies, how could anything beat it? Can you dance, sing, or play an instrument? Are you a Slam Poet? Then show off your talents to your colleagues! Or, if like me, you have Zero Talent, then join me as part of the Story Telling Crew. I have a goofy and weird story to tell. But we all also have poignant, tragic, comic – or all of the above – tales to tell. If I can do it, then you can do it. If you wish to impress your colleagues with your talent, send an email to info@geneticsupport.org to sign up. Show up et regarder les bon temps rouler.

For more information, visit: https://geneticsupportfoundation.org/gc2018

 

 

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Black-ish, Jewish-ish, and Scientific-ish: Some Problems Created By Racial Admixture

Race. I don’t think there is a more controversial and polarizing issue today. Skin color-based racial categories are considered scientifically invalid, yet race is included in government-collected population data as well as in scientific research.  But racial categories – real or imagined –  always create social problems. Those problems can become magnified – and the absurdity of classifications highlighted – when the discussion turns to racial admixture. Population genetics  tell us that no one is purely of any one race. Since hominids first wandered out of Africa, lust and wanderlust have combined to produce a species that is basically a bunch of “polyhybrid heterogeneous bastards.” The recent discovery of a fossil from a half Neanderthal/half Denisovan female in a Siberian cave proves that this genetic messiness has been going on for a long time.

Thomas Jefferson, for one, fretted about racial admixture. And not in an abstract or philosophical way. He was very much concerned with the practical question of whether the children he fathered with Sally Hemmings, one of the more than 600 slaves he owned throughout his life, would be considered black, and thus slaves, or white, and therefore free people. Hemmings was 16 and Jefferson was 46 when they conceived the first of seven children she was to bear by him. According to Virginia law at the time, a person who was 7/8 white was considered, well, white.

Hemmings had white ancestry; she was the half-sister of Jefferson’s (white) wife. As recounted in These Truths, Jill Lepore’s recently published delightful history of the United States, Jefferson engaged in some mendelian-sounding calculations about his children’s racial status (comments in brackets added by me):

“Let the third crossing be of q [Hemmings] and C [Jefferson], their offspring will be q/2 + C/2 = A/8 [a “pure” white] + B/4 [ a second “pure” white] + C/2, call this e (eighth), who having less than 1/4 of a, or pure negro blood, to wit 1/8 only, is no longer a mulatto, so that a third cross clears the blood.”

In other words, Jefferson calculated that his 4 surviving children with the partially black Hemmings would be considered white under Virginia law and thus would not technically be slaves, even if they were de facto slaves. In practice, he freed one of the four during his lifetime, a second he “let” escape, and the other two were freed in his will. Incidentally, Jefferson was not alone among presidents in owning slaves –  18 US presidents owned slaves, some while they were in the White House. A seemingly insignificant bit of trivia underscores the inhumanity with which even the “good guys” viewed slaves – 9 of the teeth in George Washington’s dentures likely came from the mouths of his slaves (which, in a manner of speaking, would make Washington a racial hybrid – teeth of a black man, jaws of a white man). The slaves may have been paid for this but that hardly justifies the act. Ethically, it is no different than when desperately poor people sell their organs for money to feed their families.

George Washington’s dentures

 

Medical geneticists have had to struggle with problems stemming from racial admixture and trying to define race. For example, one of the most common reasons for referral to American genetics clinics in the 1940s and 1950s was to determine the future racial appearance of children put up for adoption, often the product of trans-racial matings. Adoption agencies usually had a policy of trying to match the race of the child with the race of the adoptive parents. Some Southern states even passed legislation that banned trans-racial adoptions. Geneticists were often tasked with predicting the future physical appearance of children, based on their skin color or the presence or absence of certain traits thought to be more or less common in different races. By assigning a child to a specific race, geneticists also assigned that child to a social and economic life dictated by that race. No doubt many of these geneticists – like today’s genetic counselors – would never describe themselves as racists. Nonetheless, the clinical services they provided helped reinforce the pervasive racism of American society.

Felix von Luschan’s skin color charts, a common way of assessing skin color up to the 1950s

Current day geneticists continue to struggle with the problem of the biological validity of race and racial admixture. Mis-assigned or mixed ancestry, either by researchers or participants themselves, can lead to false conclusions about the pathogenicity of gene variants or generate false positive or false negative associations in SNP studies. We have also begun to see genetic ancestry tests, what some see as a modern pseudo-scientific racism, enter into the clinic. Genetic counselors typically query clients about their ancestry when constructing a pedigree. In my experience – which I am pretty sure is not unique – many patients respond that they have taken a direct-to-consumer ancestry test and then recite a scientific sounding breakdown of the different percentages of their genetic ancestry, e.g. 23% Welsh, 21% Irish, 10% French. Where this can become a problem is when it is used to guide genetic testing decisions. How much Ashkenazi Jewish ancestry warrants a specific genetic test or set of tests considered appropriate to that population (expanded carrier screening avoids that particular problem in some settings, but it has its own set of other issues)?

A recent referral to our clinic highlighted this dilemma. We were asked to see a patient for BRCA testing because she was reportedly Ashkenazi Jewish. As it turned out, an ancestry test had indicated that she was “1% Ashkenazi Jewish.” We have had several other referrals where this has come up. To keep our referring providers happy, we have very arbitrarily set a policy of a 10% rule – for patients who have had an ancestry, results should indicate at least 10% Ashkenazi Jewish ancestry before we consider them “Jewish.” Sort of our equivalent of Virginia’s 7/8 rule. Meshugunnah, I know. Never mind who your mother is.

Given the history of extreme persecution of Jews and other groups like the Rohingya in Myanmar or the Japanese Americans who were put into internment camps in the US during WWII, along with the rise of anti-immigrant sentiments and political intolerance, genetic testing that allegedly “proves” ancestry should be not be publicly available information. Somewhere, in some part of the world, at some future time, being “10% Jewish” or whatever ancestry could be a very harmful data point. Admixture can determine your life’s trajectory. Or enslave. Or kill.

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