Tag Archives: Genetic counseling

Selective Amnesia, Part 3: We Are Judged On Our History

In Part 1 and Part 2 of this three part post, I described the continuity of explicitly eugenic goals in post-WWII genetics as illustrated by some aspects of the history of the American Society of Human Genetics (ASHG). Here I follow these eugenic threads up to the modern day to help us understand the complicated and at times antagonistic relationship between geneticists and people with disabilities, their families, and their advocates. I pick up the story with the introduction of amniocentesis into clinical practice.

It is probably not a historical coincidence that “genetic amniocentesis” began to flourish once safe, legal abortion became available in the US and other countries in the 1960s and 1970s (amniocentesis had been performed for therapeutic reasons and for monitoring fetal lung maturity and Rh incompatible pregnancies for some time prior). In the 1970s, cell culturing techniques and cytogenetic G-banding allowed reliable prenatal detection of fetal karyotypes. Prenatal testing was initially made available to pregnant women who were 35 or older. The story that is told – our collective memory –  is that this age cutoff was chosen because at age 35 the probability of an unbalanced karyotype in the fetus was greater than the miscarriage rate of the procedure. In fact, the primary reason that this cutoff was chosen was economic cost-benefit –  the cost-savings by preventing births of children with Down syndrome outweighed the cost of the procedure and lab work. Or, as the authors from a 1973 article in The Lancet more bluntly put it:

“We are less certain about the balance and costs [of amniocentesis] at current rates of screening the whole pregnant population. But is a detailed estimate of the costs required? The lifelong care of severely retarded persons is so burdensome in almost every human dimension that no preventive program is likely to outweigh the burden.”

As each new form of prenatal diagnosis was introduced into clinical practice – maternal serum screening for neural tube defects, chorionic villus sampling, ultrasonography – the scope of conditions considered for prenatal screening expanded, as did the number of pregnant women “eligible” for testing. For example, alpha-fetoprotein (AFP) screening was introduced to detect spina bifida and anencephaly and then broadened when it was discovered that low maternal serum AFP was linked to fetal Down syndrome, trisomy 18 and other aneuploidies and genetic conditions. Detection rates continued to rise as additional analytes (e.g. hCG, estriol) were incorporated into testing. Ultrasonography was initially seen as a tool to measure fetal growth, verify viability, and to identify multiple gestations. It soon became a diagnostic and screening tool for detecting neural tube defects, then Down syndrome, and eventually many uncertain, minor, and profound fetal anomalies. Targeted carrier screening for genetic conditions enriched in certain populations such as Tay-Sachs disease among Ashkenazi Jews grew to include ten or twenty conditions, and now covers hundreds of rare genetic conditions, regardless of ancestry

Up until the 1990s, most studies that tried to measure the success of genetic counseling focused on reproductive decision making and the impact on the incidence of disabilities. Thus, prenatal testing  continued the historical thread of the overarching clinical concerns of medical geneticists that the gene pool was unhealthy and that disability was a medical and familial tragedy as well as an economic drain to be avoided. Compared to counseling patients to make the “right” reproductive decisions, prenatal testing was a more direct tool for avoiding disability and its associated costs. You might counter-argue that not all women choose to have an abortion when faced with an abnormal prenatal test result. Although there is wide variability in termination rates when Down syndrome is detected prenatally (<50% t0 >90%), estimates suggest that prenatal screening in the US has resulted in about a 1/3 reduction in the prevalence of Down syndrome. Other studies show that the ultimate effect of carrier screening is to prevent the birth of children with genetic conditions

This expansion in prenatal testing occurred with minimal input from people with disabilities, their families, or their supporters. Or input from too many others outside of the genetics and obstetrics communities. No careful weighing of ethical and social values, no seeking of diverse viewpoints. Pretty much any time a new test was shown to be clinically valid or an old one was improved, it was incorporated into clinical practice, a trend that accelerated once genetic testing became big business. Offering genetic testing to all pregnant women for a whole bunch of conditions, well, there’s gold in them thar’ hills.

I know that the view from inside the clinic is very different. Women faced with a positive prenatal test result make difficult, highly situated, emotionally difficult decisions that have little to do with concerns about the health of the gene pool or reducing the population frequency of genetic conditions. But the view from outside the clinic yields a different picture, one in which prenatal testing can look like an existential threat. In addition, people with disabilities get no palpable benefit from prenatal screening, and, tellingly, very little research has been done that tries to demonstrate medical or psychological or developmental benefits to prenatal testing. With rare exception, we are not even trying to show that prenatal testing is helpful beyond allowing the option of termination, even if we claim – with little proof – that it can help prepare a family for the birth of a child with a disability. Advertising for prenatal tests typically pitch the product as a way of ensuring “healthy babies.”

Bias against people with disabilities is not limited to prenatal clinics. It also manifests in genetics clinics where patients and families come for diagnosis and management of congenital and genetic conditions. What, you say? No way. Medical geneticists and genetic counselors are being helpful. We are figuring out what their medical problems are and helping them manage, adapt to, and live with them. We fight and advocate for them.

Yeah, that’s true and we damn well better be doing that stuff. I never met a genetics professional who wouldn’t charge into Hell for their patients. But. A patient visit to a genetics clinic can feel like entering a wunderkammer, a Cabinet of Curiosities, where they are cataloged for their freakishness and pinned in the glass case of a journal article or clinic note. We put them under a clinical microscope to parse out the ways they are different in excruciating detail – the length and shape of their philtrum, the set of their ears, the distance between their pupils, the gap between the first and second toes. Their DNA is analyzed in nano-fine detail in search of pathogenic variants that set them apart from the rest of us. Their rich family histories are reduced to circles and squares that we blacken and mark with death slashes. In effect, clinicians are (unintentionally) doing everything they can to show how patients are different from the clinicians. Geneticists may not be blatant ableists, but they can unintentionally reinforce systemic ableism.

Even the psychological aspect of genetic counseling – what we like to think makes us the ethical antithesis to eugenics – is historically steeped in  prejudice against disability. As the historian Marion Schmidt has demonstrated, the history of psychotherapy around disability is rooted in negative stereotypes. Psychotherapists’ theories were based on the assumption that cognitive and physical disability produces unique psychological disabilities for patients and their families. When psychotherapeutic techniques were incorporated into genetic counseling, it was to help families work through the emotional trauma induced by having a “defective child” so the family could ultimately make “logical choices.” For example, Arthur Falek, the director of the first psychiatric genetics department at Emory University, in a chapter on psychological aspects of genetic counseling in a 1977 genetic counseling text, wrote “lack of guidance and realistic planning in families with genetic disorders can lead to disastrous results.” Or as Steven Targum wrote in a paradigm-shifting 1981 article on psychotherapy in genetic counseling “With the advent of prenatal diagnosis and screening programs to determine carrier status, prospective genetic counseling programs have become a reality. Such counseling may avert much unwanted human suffering. The psychotherapeutic considerations discussed in this paper may be applied to prospective parents who need to anticipate the impact of a defective child on them.”

It’s no wonder that people with disabilities might look at geneticists with a wary eye. Viewed with their lens, we’ve been working to reduce their numbers and label them as disappointments to society and their families, even as we paradoxically advocate for them. Sometimes when we are working to do good we can do bad. It is so deeply rooted in our history and our practice that we have a difficult time seeing it. There are parallels here with White people’s attempts to support Black lives that has often served to reinforce systemic racism. This criticism is difficult for us to accept in much the same way that those who run diversity training programs have found that White people who profess to be non-racist have a hard time accepting that their thoughts, words, and deeds can negatively impact people of color. And, like Blacks in America, people with disabilities have suffered from discrimination in housing, medical care, employment, voting, and education. Laws may grant basic rights to ethnic minorities and people with disabilities, but they still have to fight tooth and nail to get those laws enforced

I am not claiming to be a spokesperson for people with disabilities. I am not in a position to present their views, which may vey well differ from mine. Rather, I am using a historical narrative to try to understand why some people with disabilities may be ambivalent and distrustful of clinical geneticists and genetic counselors. There have been plenty of articles written about these matters, plenty of speakers at conferences, and course work in training programs. That’s all good, but more concrete actions need to be taken. We could conduct more studies on whether there are benefits to prenatal screening beyond pregnancy termination. We can hold more robust and diverse discussions to develop guidelines for deciding which conditions to incorporate into prenatal and carrier screening that are more measured, respectful, and ethically balanced. We need to teach a more honest assessment of our history. We should understand and respect our past but we shouldn’t honor ethically flawed practices like eugenic sterilization by naming awards after their advocates. When we are criticized we need to react receptively, not defensively. We should be as dedicated to these goals as we are to fighting for racial equality. Amen.

 

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Selective Amnesia, Part 2: Guardians of The Gene Pool

A few weeks ago in this space, drawing on the research of others, I wrote about how geneticists have created a collective memory of eugenics in which they put all the “bad” eugenics behind us after World War II and moved on to the enlightened modern era. I discussed how in fact notable historical figures Franz Kallmann, William Allan, and C. Nash Herndon actively espoused eugenic policies from the 1940s through the 1960s. Here, in Part 2, I highlight more connections between the American Society of Human Genetics (ASHG) and eugenics to make it clear that support for eugenic policies and beliefs was common among geneticists. Kallmann, Allan, and Nash were not a lone trio of eugenic stragglers who were still mired in a questionable ethical past.

Let’s start by following the money. Post-WWII geneticists may have claimed to reject eugenics, but they had no problem with accepting money from eugenically oriented funding sources. As Nathaniel Comfort notes in The Science of Human Perfection, eugenic organizations were tapped to fund the establishment of the American Journal of Human Genetics. Part of the funding  for the journal was arranged by the eugenicist Frederick Osborn through the Association for Research in Human Heredity, which was formerly the Eugenics Research Association of the Eugenics Record Office in Cold Spring Harbor, NY. The remaining funds were supplied by Wickliffe Draper’s Pioneer Fund, established in 1937 to be one of the primary funders of eugenic research (it continued to support racist and eugenic research into the 21st century). There was even discussion of using a picture of Charles Davenport or Barbara Burks (a researcher  in psychiatry who spent several years at the Eugenics Record Office and who has a fascinating biography) for the journal’s frontispiece. During the 1950s, Charles M. Goethe, another wealthy eugenics benefactor, sent small annual checks to the ASHG treasurer to purchase gift memberships for students with high IQs and thus good breeding stock “while he [the student] accepts the responsibility of fathering at least 3 children.” 

Post-WWII geneticists took the racist and elitist policies espoused by the most notorious conservative eugenicists and transformed them into a crusade dedicated to reducing human suffering and ensuring the “health of the gene pool.”  Instead of vitriol directed at immigrants and their “defective germ plasm,” geneticists fretted that the human gene pool was degenerating, i.e., our genetic load, as the result of a trifecta of forces including existing mutations that were already part of the human breeding pool, new mutations induced by ionizing radiation due primarily to the proliferation of nuclear weapons, and the relaxation of natural selection in humans due to improvements in medical care and living conditions that allowed people with illness-predisposing mutations to survive and reproduce. They sometimes argued that the very future of humanity hinged on keeping the gene pool healthy, along with cost-savings from eliminating mutant genes. Even James Neel, a strong critic of conservative eugenics, titled his 1994 autobiography Physician To The Gene Pool. If the gene pool wasn’t sick or threatened, presumably it would not need a physician to tend to it.

Of the three factors alleged to be threatening to increase the genetic load, medical geneticists could exercise some measure of control over the existing mutation frequency. They argued that if parents were properly counseled then high risk couples would refrain from having children with genetic disorders, thus reducing the impact of genetic disease on the population. Conversely, low risk couples would have more children, improving the overall gene pool. You didn’t have to make people refrain from reproduction by force or sterilization. You just need to wisely educate them and let them see the light on their own.

There was widespread support among the genetics community for this reframed and reformulated eugenics. Below are illustrative quotes by other ASHG presidents (some of which come from a 1997 paper by science historian Diane Paul):

Herman Muller (ASHG President, 1949; Nobel Prize Winner, 1946): “It is shown that the only means by which the effects of the genetic load can be lightened permanently and securely is by the coupling of ameliorative techniques, such as medicine, with a rationally directed guidance of reproduction. In other words, the latter procedure is a necessary complement to medicine, and to the other practices of civilization, if they are not to defeat their own purposes, and it is in the end equally as important for our health and well-being as all of them together.

Sheldon Reed (ASHG President 1956): “People of normal mentality who thoroughly understand the genetics of their problems, will behave in the way that seems correct to society as a whole.”

Curt Stern (ASHG President, 1957): “In the course of time…. the control by man of his own biological evolution will become imperative…”

James F. Crow (ASHG President, 1963): “How far should we defend the right of a parent to produce a child that is painfully diseased, condemned to an early death, or mentally retarded?”

Bentley Glass (ASHG President, 1967; President of the American Association for The Advancement of Science, 1969), writing in 1971: “Whether advice or compulsion is to be used by society in these cases would seem to rest with the severity of the condition. If the prospective defect is one that would leave a baby a hopeless imbecile or idiot throughout life and a ward on society, or cause it to be born without limbs, or make it otherwise gravely defective, avoidance of parenthood ought to be mandatory.”

You might argue angels-dancing-on-a-pinhead that these statements are not eugenic philosophies sensu strictu. Maybe you could make a half-convincing argument to that effect. But that sounds like denial to me. Davenport, Harry Laughlin, and the other pre-WWII eugenicists would have recognized and supported any of the above pronouncements.

But let me be clear. This is not a simple story of ethically challenged geneticists pushing an intentionally evil agenda. These were good people from across the political spectrum who believed they were trying to do good for their patients and society. Just like us. And, just like us, they recognized the psychological and emotional impact of genetic disorders on patients and families. As the historian Marion Schmidt notes, Franz Kallmann, former member of the German Society for Racial Hygiene who advocated sterilizing the families of patients with psychiatric disease, urged genetic counselors to understand patients’ “fears and hopes, defenses and rationalizations” and to develop an “empathetic understanding of the motives and capacities of the person who comes for help.” Foreshadowing  21st century calls for genetic counseling to be conducted as a form of psychotherapy, Kallmann viewed genetic counseling as “short-term psychotherapy aimed at reducing anxiety and tension,” albeit with the ultimate goal of producing “a well-planned family [that was] indispensable as a biological, social and cultural unit from a eugenic standpoint and a unique source of pride and stability for the individual.”

I don’t mean to imply that ASHG is or was  ever an unethical, sinister eugenic organization. However, as the primary professional organization for geneticists, ASHG’s history reflects the history of the philosophy, ethics, and practice of medical genetics. As much as we may want to ignore that history and keep it safely behind us, it is embedded, if you will, in the DNA of the profession.

In the third and final part of this series of postings, I will trace these eugenic threads up to current day practice to help us better understand the complicated and at times antagonistic relationship between medical genetics and people with disabilities, their families, and their advocates. 

 

 

 

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Will Coronavirus Burst The Genetic Counselor Employment Bubble?

The last decade has been boom times for genetic counselor employment. According to the 2020 NSGC Professional Status Survey (PSS), the number of genetic counseling jobs has doubled since 2010. Students are recruited for positions before they have graduated. The average starting salary for a genetic counselor right out of school is $12K a year greater than the entire profession’s average salary was in 2010. The highest salaries now exceed $200K. A genetic counselor with 5 years of experience can expect to make nearly as much as I do with 37 years of experience. If I were to go back to genetic counseling school and start my career a second time, I would probably be born again as a new counselor with a higher salary than what I currently earn (Hey Program Directors, think about what a headache it would be to have me in your next class!). And the 2020 PSS projected an even rosier outlook for the coming decade.

And then our parade got rained on by a storm of evil little droplets of RNA+protein. The US medical care system is facing the paradox of going broke while the urgent demands on medical services have never been more critical. By one prediction, the US health care system will lose two hundred billion dollars in the 4 month period from March to June. Those lap chole’s, knee and hip replacements, cardiac stents, and c-sections really drive hospitals’ bottom lines. It’s hard to believe that the rest of the year is going to look much better. I doubt that the US government will demonstrate the competence, unity, or interest to meaningfully mitigate the health care system’s financial woes, unless maybe New Zealand allows us to borrow Jacinda Ardern for at least 4 years.

It is not likely that genetic counselors will escape unscathed. So last week I informally surveyed the NSGC listservs (aka forums) about how the pandemic has impacted genetic counselors’ jobs. Here are a few replies about what some genetic counselors have experienced so far (anonymity preserved):

  • Partial furloughs
  • Lay-offs
  • Reduction in hours
  • Pay cuts
  • Reduction in non-salary benefits
  • Mandatory paid time off
  • Drops in referrals
  • Changes in job responsibilities from patient care to research and other duties
  • Job offerings withdrawn

It’s hard to know how prevalent these problems are because the “research” design and data have more limitations than a teenager who skipped school to go drinking with her boyfriend and wrecked her mother’s brand new car. But they do get your attention.

Like the virus itself, the impact on employment seems to hop, skip, and jump across the country. Some genetic counselors reported no effects at their institutions. To which I would add – at least, not yet. The health care system has just recently come up for air and many employers have not had the chance to fully assess the financial fallout. Early reports from well-respected commercial laboratories, who employ around 20% of genetic counselors, are worrisome too. Myriad reports that revenue has dropped 20-75% across its battery of tests. Invitae has seen testing volumes start to drop and has laid off some staff. These may very well be temporary setbacks and sales may rebound once the whole Covid thing cools off, whenever that might be. But they are not exactly encouraging signs. I am also curious to hear from our international colleagues about the pandemic’s impact on genetic counseling jobs outside of the US.

Once the worst of the pandemic is over, recovery is not likely to be a smooth and rapidly rising curve, even if – fingers crossed and offerings to St. Roch – the virus doesn’t return with a vengeance. Unemployment in general will be high and fewer people will have health insurance, and thus there will be fewer dollars to spend on medical care.

Christ Appointing Saint Roch as Patron Saint of Plague Victims, by Peter Paul Rubens.

Genetic counseling positions may not be high on the priority list of administrators if or when they look to restore lost positions in the future. In the grand tradition of administrators everywhere, they will look to cut costs and may replace only a portion of the lost genetic counseling positions. Hospitals and clinics may decide to shift genetic counseling responsibilities to other staff, such as medical assistants or nurse practitioners, or farm out genetic counseling positions to lab-based counselors, telehealth services, or even chatbots and videos. Older counselors may be nudged towards retirement. Expect paring back of support staff; executives always seem to forget that receptionists, schedulers, and the like are critical to running a hospital and cutting their salaries amounts to a hill of beans in overall budgets. Layoffs just about always come back to bite employers on the ass, and still they act surprised to find teeth marks on their buttocks.

The effects may even be felt in research funding. The NIH slated ten billion dollars for genetic research in 2020. Next year legislators and funding agencies may be more interested in diverting research funds to infectious disease research, prevention, and epidemiology. It’s hard to imagine someone running for political office on a platform of more money for genetics research and less for infectious disease research.

Oddly enough, current genetic counseling students may be better positioned than more experienced counselors. The salaries of genetic counselors with 5, 10, 20 years of experience can get pretty pricey for employers looking to save money. Why not hire somebody fresh out of school who would be paid a lower salary than a veteran?

I am not sure what the response of the profession can or should be. I think I have to leave that up to wiser minds than I possess. Perhaps the NSGC wants to start documenting the coronavirus job impact in a systematic way and plan a targeted PR push during the pandemic recovery focused on the value of genetic counselors in delivering health care. Training programs may think about scaling back admissions until the impact becomes clearer. Maybe the Accreditation Council for Genetic Counseling (ACGC) wants to slow down the approval of new programs. Genetic counselors may need to be more flexible about what they consider to be their scope of practiced and how genetic counseling services should be delivered.

Or maybe none of this will come to pass and by September we will resume our lives with some semblance of normalcy and a minimum of economic and existentialist wear and tear. I know I sound like Mr. Gloom and Doom, which is not really the voice you want to hear in these dire times. I understand why you might want to cover me in Greek fire, shoot me from a mangonel out and over the city walls, or disembowel me (my imagery is heavily influenced by a book I am reading  about The Crusades, or as they are known in the Middle East, The Latin Invasions). So you can take heart in that fact that, like almost all predictions, there’s a pretty good chance I will be wrong yet one more time. But we shouldn’t stick our heads in the ground in an attempt to protect ourselves when the sky really is falling.


Thank you to Emily Singh for help with graphics.

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Huh?

Lecturing patients is a lousy genetic counseling strategy. It presumes that the genetic counselor has superior knowledge and the respectful patient will listen to our learned words to make a perfectly logical decision about whatever it is they are seeing us about. But people don’t work like that, and while you are busy lecturing patients they are thinking about what to make for dinner that night, noticing the food stain on your shirt, or wondering if you will ever stop that incessant droning. Wise counselors instead prefer to reciprocally engage with patients and work together in symbiotic harmony to help the patient arrive at a cognitively and emotionally sound choice about whether to undergo a test, share information with family, undergo risk-reducing surgery, or whatever else is a critical issue for them. Victory all around; good counseling leading to good patient outcomes, and everyone is content.

Okay, so maybe genetic counseling doesn’t play out like that all the time. But it is a noble goal towards which we strive, however imperfectly.

You try to do your best to respect patients’ values and choices. Nonetheless, you can feel like a failure when a patient makes what appears to be a ridiculous decision. We’ve all been there, in its many permutations. The 55 year old BRCA1 pathogenic variant carrier who declines a risk-reducing saplingo-oophorectomy after she has tearfully confessed her deep-seated fear of ovarian cancer. The patient with a cardiomyopathy who has spent the last 30 minutes explaining that he wants testing so his young adult children can manage their risks accordingly – and then declines testing because he “doesn’t want to burden them with the knowledge.” The 33 year old, a mother of two young children, with newly diagnosed triple negative breast cancer who chooses treatment with antioxidant supplements and dietary changes over chemotherapy. Makes you want to pull your hair out (although seeking professional supervision might be a more fruitful pathway than self-inflicted alopecia).

Your first reaction is shock and disbelief. Huh? Was that patient in the same room as me? Did she not hear anything at all about what we discussed? Is she an idiot? I know you are not supposed to think that your patient is an idiot but sometimes those thoughts sneak in unbidden before your professional filter has a chance to block them. Hopefully that filter will kick in before you actually call the patient an idiot.

Or you may get defensive about it. Come on, lady, I know that I did a good job with you in there. I listened to you, we explored your thoughts together, I checked in regularly to make sure that you understood the key medical issues and how they impact your life. I validated and respected your feelings. I had the same interaction with my previous patient and she chose to have the surgery. How can you not uphold your end of the contract?

Mostly, though, such reactions reflect our personal and clinical insecurities. Any reflective counselor will – and should – have a healthy dose of insecurity and humility. Such seemingly outlandish decisions can be perceived as a threat to your professional ego and competence. What did I do wrong? Obi-Wan Counselor, my role model, would have handled this so much better. If she counseled her, that patient would definitely have chosen risk-reducing surgery. I am so incompetent. But I got news for you – there’s a darn good chance that Yoda-like role models still have many moments just like this. Perfect counselor no one is.

There could be several factors underlying what appears to be poor patient choices. Patients may be grappling with emotionally and technically complicated information that they just haven’t worked through yet and just choose something, anything, to get on with their lives for now. There may be a deeper psychological issue subconsciously driving patient choices, such as dealing with the long ago death of a loved one, confronting one’s own mortality, or fears of medical procedures because, when it comes down to it, who wants to be cut open. The expertise of a more skilled therapist may be required to address the situation.

Also, let’s face it, sometimes people just make dumb decisions, no matter how smart and psychologically together they are and how good your counseling skills are. We all do, at various times. Driving a car after wine and drinks with dinner, engaging in a flirtation or an affair when you are in a committed relationship, smoking cigarettes, crossing the street unsafely, spending money for an 18th pair of shoes when budgets are tight. There’s nothing too bright about any of those behaviors, although you have to be careful if you try to point out that a decision may not seem particularly good. It could alienate the patient, if not done just right. But I would argue that we all have a right to make what seem to be dumbass decisions.

Consider too that it is virtually impossible for anyone to know what will turn out to be a good decision. Any choice that tries to anticipate the future is so inherently complicated and filled with uncertainty that what seemed like a good idea at the time may eventually turn out to be an awful choice, and vice versa. All kinds of unanticipated outcomes or unknowable problems can arise. Serious complications might develop after risk-reducing surgery. Your beliefs, spirituality, perspective, and values may evolve over time. You had sworn off children and then you fall head over heels in love with someone and all of a sudden you want to start a family. You have a test for the sake of your family and then your family decides they really didn’t want the information and wish you hadn’t done it. You spend half your life worried about colon cancer and then you’re a victim of a pandemic. No one knows how the Cosmic Vanna White will spin her Rota Fortunae.

Rota Fortunae - Wikipedia

There’s no cookbook genetic counseling recipe that magically transforms people into rational and emotionally consistent decision makers. People are people in all their splendidly glorious contradictions and sometimes they are gonna’ do what they are gonna’ do. Sometimes we can guide them and sometimes we can’t. And sometimes, even when they don’t know it, they know what they are doing. Or they learn to live with their choices. That’s life and we can’t deny it.

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Why “H.R.3235 The Access To Genetic Counselors Services Act” Makes ACMG Feel Threatened By Genetic Counselors (Again)

In the  United States, genetic counseling services are typically delivered by masters level genetic counselors. Yet Medicare, the largest health insurer in the US, does not recognize genetic counselors as reimbursable providers. No health professional is better qualified to provide genetic counseling than a genetic counselor. Absurdly, then, Medicare’s policy assures that the service is covered ONLY if it is provided by mostly unqualified health professionals. It boggles the mind.

But this could change if Congress passes H.R.3235 – the Access to Genetic Counselor Services Act, along with whatever version winds up in the Senate. This bipartisan bill would allow appropriately certified genetic counselors to be covered by Medicare and to order genetic tests as local licensure permits. The bill has broad support in the medical community. Even the AMA has stated they will not oppose the bill.

So why in God’s name has the American College of Medical Genetics and Genomics (ACMG), the primary professional organization of MD clinical geneticists, made the bone-headed decision to come out against this bill, even when many genetic counselors are members of ACMG? ACMG claims that they would support the bill only if genetic counselors are not allowed to order genetic tests. This is an untenable position, especially in light of the abundance of data demonstrating that genetic counselors not only are savvy about ordering tests but having them involved in the process results in significant cost-savings and increases the accuracy of test interpretation. I might add that there are virtually no equivalent data demonstrating that clinical geneticists bring equal value and expertise to the ordering and interpretation of genetic tests. They probably do but, hey, show me the numbers. Furthermore, the anti-genetic counselor position is contrary to ACMG’s Vision and Mission to “to facilitate the delivery of quality clinical and laboratory medical services to patients and their families…” It’s hard to facilitate testing if  the country’s largest group of genetics providers are excluded from ordering genetic tests (there are roughly 2-3 times as many certified genetic counselors as there are certified clinical geneticists).

I suspect that ACMG’s position stems from both historical and economic factors. The relationship between masters level genetic counselors and clinical geneticists has a complicated 50 year history. When the first genetic counseling graduates entered the job market in the 1970s they were likely to be employed in a Medical Genetics department where they were supervised by a clinical geneticist. Not uncommonly, genetic counselors were viewed by clinical geneticists as lower echelon providers who more or less served as “doctors’ helpers.” Indeed, back then many clinical geneticists argued that genetic counselors shouldn’t even be allowed to call themselves genetic counselors because in their view only physicians should serve in that role. They wanted to wall off genetic counselors from meaningful clinical practice and call them Genetic Associates.  There was also more than a hint of underlying sexism. Most clinical geneticists at the time were older males and 95% of genetic counselors were bright young females – those “girls” just weren’t good enough to do “real” medical genetics. The two professions, though, were in a symbiotic relationship; it would have been nearly impossible to run a large genetics clinic without the labor of genetic counselors or clinical geneticists. One profession could not live and thrive without the other.

With the wider availability of prenatal testing in the 1980s, many genetic counselors found employment in prenatal diagnosis clinics, which were usually run by obstetricians rather than clinical geneticists. Genetic counselors gained a greater sense of independence and professional confidence serving as the genetics experts in these new settings. This expansion of genetic counseling employment beyond traditional genetics clinics was further stimulated by advances in genetic testing for more common conditions like cancer and cardiac disorders in the 1990s. Genetic counselors were not gonna’ work on Maggie’s Farm no more whereas clinical geneticists pretty much kept themselves down on the farm.

As I have described previously, this came to a head in the early 1990s when the then American Board of Medical Genetics petitioned the American Board of Medical Specialties to create an American College of Medical Genetics. This move would serve to increase the prestige and potentially improve reimbursement of clinical geneticists’ services. The American Board of Medical Specialties agreed to do so – but only if masters level genetic counselors were not part of the deal. This resulted in very bitter debates between genetic counselors and clinical geneticists. I have vivid memories of some disagreeable and uncomfortable, uh, discussions at national and local meetings. One clinical geneticist told me at the time that the separation would mark the end of the genetic counseling profession (boy, was he wrong). Ultimately, with the thoughtful but firm guiding hand of the leaders of the National Society of Genetic Counselors, genetic counselors agreed to secede from ABMG. It turned out to be the best thing that ever happened to the genetic counseling profession. Genetic counselors and clinical geneticists thereafter still maintained a professional relationship; after all, many of them worked together. But professionally speaking, genetic counselors pretty much left clinical geneticists in the dust and clinical geneticists are still struggling to catch up. Most genetic counseling and ordering of genetic testing gets accomplished without any input from a clinical geneticist and it gets done quite well, thank you very much.

Incidentally, I would like to remind everyone that  in the 1980s, when the American Board of Medical Genetics administered certification exams to both genetic counselors and clinical geneticists, all candidates need to pass two exams – a general exam that everyone took demonstrating overall knowledge of medical genetics and then a separate subspecialty exam each for genetic counselors and clinical geneticists. In most years that the exam was administered, genetic counselors had higher average scores and pass rates on the general exam than clinical geneticists did. So don’t talk to be me about questioning the competence of genetic counselors.

Economically, clinical geneticists are struggling to survive. Salaries are low and recruitment for fellowships is a struggle. Clinics are understaffed and wait times for an appointment in a genetics clinic can be as long as a year. Worse than running in place, they are losing ground. Thus, AMCG’s position on H.R.3235 gives the appearance of a desperate attempt to protect its shrinking economic and professional turf.

This is not 1980 and there aren’t any Genetic Associates anymore. Genetic counselors are damned good at providing genetic counseling and ordering and interpreting genetic testing. Genetic counselors know their limits; they aren’t looking to perform medical procedures, admit patients to hospitals, prescribe medications and other treatments, or undertake a comprehensive dysmorphology exam. In fact, in many states, local licensure laws already allow genetic counselors to order genetic tests if the patient has a private insurer or Medicaid (but not if the patient is covered by Medicare). I am not aware of any data suggesting that this has negatively affected the practice of clinical geneticists. It’s just made it easier for patients to access genetic testing, simplified navigation of the tortuous pathways patients must go through to obtain insurance coverage for testing, and helped assure that test results will be properly interpreted and integrated into the patient’s health care strategy.

But neither ACMG nor genetic counselors own genetic testing. Most clinicians, regardless of specialty, can order a genetic test. Heck, consumers can order tests themselves online, if they are so inclined. ACMG needs to better serve its membership and patients by adapting to a changing world and developing a different clinical and economic service delivery model. Opposition to H.R.3235 does not help patients, genetic counselors, or, if they cling to a dated view of medical practice, clinical geneticists themselves. ACMG must support H.R.3235 and recognize that genetic counselors play a critical role in the delivery of medical genetics services and testing.

 


You can contact your local congressional representative to express personal or organizational support fo H.R.3235.


Thanks again to Emily Singh for help with graphics.

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What Can I Say?

I like doing crossword puzzles with their mix of trivia and clever word play. I will never win any contests, but I am a competent puzzler (I prefer the term puzzler to it’s more high falutin’ cousins, cruciverbalist and engimatologist). Sometimes a devilish clue will stump me because it leads my mind to a very narrow interpretation of it. I have found a helpful strategy to solving the clue is to give it some benign neglect. If I let my mind stray to other things and then come back to 23-Down, the cobwebs will have fallen and in a slap-the-forehead moment the answer pops into my head. One way of distracting myself is to let my eyes wander across the newspaper page. As it happens, crossword puzzles are often on or near the same page as Advice Columnists and I find myself reading those letters from people seeking help with their woeful life situations. I am usually impressed by the counseling and psychological insights offered by the columnists and often find myself wondering what my response would be to the letter-writers (and I find myself singing the lyrics to John Prine’s wry song “Dear Abby“).

Last Saturday when I was stuck on trying to remember the city where Aga Khan’s mausoleum is located, I turned to reading “Ask Amy,” Amy Dickinson’s advice column. Although Amy did not supply me with the answer to the puzzle clue (Aswan, along the Nile in Egypt, for those of you who are also puzzlers), my attention was grabbed by a letter to Amy from – a genetic counselor. The counselor, who has chosen not to have children, asked Amy how best to respond to clients’ questions about whether the counselor has children and what decision she would make for her own child. The counselor also related a story about a recent couple who believed that the quality of care provided by their physician was compromised by that provider being childless.

My first thought was “Such questions play on our professional and personal insecurities. This genetic counselor might have been better served by peer or one-on-one supervision.” Supervision is an important part of professional growth. Although there are a few genetic counseling supervision groups, they are not particularly common, perhaps because there is no strong genetic counselor cultural tradition for them or professional requirements to participate in one. To some extent, the NSGC sponsored listservs – or Forums, as they are now called – sometimes serve that role but it’s not exactly the same thing.

My second reaction was I guess that’s a question a chatbot wouldn’t have to deal with. As Siri might say, “I am not sure that I understand that question.”

My third thought was “What would I say to that counselor if she posed the question to me?” If you are in a clinical position, no doubt you have encountered similar questions about your personal life. Before I was married, I remember the not uncommon occurrence of counseling a single parent pregnant woman who came to the session with her mother and afterwards the mother asking me on the sly “You’re such a nice a young man. Are you married?”

It is impossible for us to mirror all of our clients’ characteristics, experiences, and life situations. We can’t be all things to all people.  In fact, one might argue that being too similar to our clients can result in counter-transference issues that can negatively affect the quality of our counseling. A counselor can be too empathic; sometimes the ways that we are different from our clients can give us a less biased outlook on a family’s issues.

I was not particularly happy with Amy’s advice to the genetic counselor, which was to say to the couple “We’re not here to talk about me. We’re here to talk about you. Let’s focus on your case, OK?” I think it unhelpfully dismisses the couples’ concerns. It may be what the counselor is thinking but in my view that’s not how it should be verbalized or managed. I can think of a few alternative responses, depending upon the specifics of the situation:

  • “I appreciate your concerns and understand why you think a parental perspective might be helpful. But in my role with you, I am a counseling professional, not a parent. I have years of experience and professional training in working with couples in your position. My clients, whether or not they have children, often tell me how much they appreciate my expertise and insight. So I think that I can help you in meaningful ways. After meeting with me, you might want to talk to your friends and family members who have children to get their perspectives too.”
  • “You mentioned that you want your care providers to be parents – why do you think you feel this way? As we go through this session, let me know when you think a parental perspective would be important to the issue at hand and let’s see if we can figure out why my not being a parent might matter.”
  • “Some patients have raised this with me before. For many of them, it turned out that my perspective as a non-parent actually gave them a better understanding of their situation and helped them make what they felt to be a better decision. Let’s see if we can work together on this.”
  • “I don’t have children. But I listen very closely to my patients, and I have learned a lot from them about the issues and feelings that parents face. I think you can benefit from the many insights that my patients have shared with me.”

There are no doubt other ways to respond to these patient requests for self-disclosure and you may think my suggestions are inadequate. More than one research article has been written about how much counselors should share with patients about their professional lives and how they manage such questions. In the spirit of on-line peer supervision, I would like to hear from the Good Readers of The DNA Exchange about how they would have responded to the Ask Amy letter and how they handle questions from patients that probe counselors’ personal lives.

Patients are ongoing puzzles that we must continually work on solving, whether we are beginners or graying veterans. Some of the clues they give us have obvious answers, while others are more layered and complicated. The solution for one patient’s situation may not work for the next patient puzzle. All of us need to remain open to the help and perspectives of our peers and colleagues. We cannot grow if we engage in benign neglect.

 

 

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Genetic Counselor Reinvented

I have a confession to make. Now that I am half way through my 60s – not exactly elderly, but too old to die young – I have become increasingly insecure about my relevance to the field of genetic counseling. My ethos, counseling style, and knowledge base are still anchored in the previous century. My anxieties are heightened by practicing in a field dominated by young, very bright, highly trained people. I fret that I am viewed by my colleagues with bemused, grandfatherly respect and not as a key player who is relevant to the practice of genetic counseling or to the many exciting pathways that the profession is pursuing. Call it fear of being thought of as a vetus crepitu (Old Fart sounds so much better in Latin).

Then too there are the demands of employers to see ever more patients, the promise/threat of artificial intelligence to replace/supplement genetic counselors, and increasing demands to access genetic counseling through means other than a brick-and-mortar face-to-face interaction. It’s enough to make me want to call it quits and enter a peaceful retirement where my stressful decisions will be “Should I sleep another hour?” or ” Which show should I binge-watch – all 5 seasons of ‘The Wire’ or ‘Breaking Bad’?” Omar, Stringer Bell, Mr. White, Leonel and Marco Salamanco (“The Cousins”), Gustavo – I hardly knew ye and heartily miss ye.

I was mulling over these thoughts and insecurities the other day when I had an Aha! Eureka! Fall-Off-My-Ass moment that will revitalize my moribund career and make me the envy of genetic counselors of all ages. I have 36+ years of experience with more than 20,ooo patients and a shopping bag full of clever counseling phrases (“Families can be complicated sometimes.” Pause, look directly at the client, and give a slight , knowing, supportive nod of the head. or “There’s no need to rush into making a decision about genetic testing in your situation. Testing  is important  – pause an extra beat to focus attention on the next words – but not urgent.”). I have parlayed this experience into an e-asset by reinventing myself as a biotechnochimaera of a genetic counselor and a chatbot. Ecce – ChatBob!

Deciding to become ChatBob wasn’t exactly brain surgery. Well, actually, it was brain surgery. My cousin, a brain surgeon, and my niece, a computer whiz, worked together to implant a variety of neuronanochips, teeny-tiny receivers, micro-routers, and other itty-bitty doodads into my cerebral cortex and other important sections of my brain. Anyone with an internet connection can now access my brain for the purposes of genetic counseling. The microrouters and neuronanochips allow multiple people to simultaneously  access my CNS. I don’t know how that stuff works; my niece explained it to me but I didn’t really understand a word she said. But I don’t have to understand how it works because it does it’s job automatically.

Okay, the external portion of the hardware is a bit, uh, geeky but, hey, it’s the beta-version. Undoubtedly some product designer from Apple will eventually turn it into a fashion statement that will make even the hippest hipsters suffer a serious case of cool-envy.

Because I have been a genetic counselor for so many years I have heard every possible question and because I can do it in my sleep, patients in any time zone have access to ChatBob 24/7. The neuro-computer connections hook up to a deeply embedded part of my unconscious mind so I am usually unaware that a counseling session is even taking place (admittedly, that sometimes used to happen when I saw patients in person too). I can binge watch whatever television series I am in the mood for while the Counseling and Education Center of my brain – the striatum bovis stercis – subliminally and simultaneously counsels dozens of patients. Labs download test results directly into my brain which then sends a message to patients’ computers so they can immediately access their reports and my clinical interpretation.

I am in great demand by laboratories and hospitals wanting to free themselves of the burden of the salaries of multiple genetic counselors. I can be easily integrated into Epic or any other electronic health records platform. Researchers looking to allow people from all demographics to have easy access to genetic counseling in research projects are pounding on my e-door. ChatBob is a researcher’s dream because all the counseling is done by one counselor so they don’t have to control for counselor variability in skill, experience, or style. ChatBob is scalable to a population level;  hey All of Us , why not take All of Me? Telegenetic counseling startups are pleading with me to replace their entire staff.  I’ve had inquiries from Google wondering if they can implant advertisements in my brain for products related to patients’ genetic test results.

There have been some mishaps and a few crossed wires. These have mostly been the result of my cousin being a disbarred neurosurgeon (one of the disconcerting things about being awake during neurosurgery is that you can hear the surgeon say “Oops” in the middle of the procedure) and because my niece, being a teenager, has more important things to pay attention to than the details of her uncle’s neurocircuitry. So occasionally when a patient asks a dumb question the reptilian part of my brain overrides my Counseling Center and responds with something like “What a dope. Weren’t you paying attention to what I just neurotransmitted? I’ve already said twice that daughters can inherit a BRCA1 mutation from their fathers and that genes absolutely cannot skip generations.” A few patients have managed to integrate themselves into some of my dreams. It made for some awkward moments when a couple of patients managed to tap into the primal portions of my brain that house my implicit biases, fantasies, fears, and unfiltered thoughts. But hey, that’s to be expected in the pioneering stages of any world-changing technology. Kind of like Alexa “inadvertently” listening to your private conversations. Employers are not troubled by these occasional mishaps because all they care about is that I am counseling high volumes of patients and saving them oodles of money.

I don’t recommend other genetic counselors biotechnoconverting to ChatBob because I want all the business and I want to have the best presentations at national meetings. Plus, it is kind of a permanent thing, so you can’t just back out after using it for 90 days or whatever. And you have to do lots of explaining to skeptical TSA workers at airport security checkpoints. But these are small sacrifices to make in order to stay in front of the genetic counseling peloton. I will be seeing you in my rearview mirror for the next 10 years.


Thanks to Emily Singh for realizing the ChatBob graphic

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Vocab Rehab

Our word choices in speech and writing are often reflexive rather than reflective. Some words become so engrained into our vocabulary that we use them out of habit rather than after careful consideration. We think we are communicating clearly because everybody “knows” what a particular word means so we don’t pause to consider what the word might really mean or suggest. This can be particularly true of professional vocabulary, wherein we are inculcated with a set of specialized terms and word choices early in our training that are later reinforced throughout our careers by journal articles, books, and at educational meetings.

Even the rhythm and meter of spoken language can silently work their way into professional oral presentations. The next time you attend a multi-day conference pay attention to how the speakers at the end of the conference may unconsciously repeat the speech patterns of the speakers from the previous days. I first noticed this phenomenon about 10 years ago at an annual genetic counseling education conference during which a few speakers at the beginning of the conference frequently used a high-rising terminal (i.e., a rise in pitch at the end of a sentence). By the last day of the meeting it seemed like every speaker was raising their pitch at the end of too many sentences and it was starting to drive me crazy (I’ve since adapted). The “right” way to speak or write is the one that we encounter most often and most recently by respected members of our professional and social circles.

Reflexive vocabulary usage can sometimes mislead or confuse. Let me offer two examples of  vocabulary used by – but not unique to – the medical genetics community that in my view need some reconsidering and revision: whole exome/genome sequencing and gender neutral pronouns (for related discussions, see my prior postings about the words “psychosocial.” and “mutation“).

Whole Genome/Whole Exome Sequencing – These are inaccurate and misleading terms. The descriptor “whole” suggests that the entire genome or the entire exome is being sequenced. In fact, the analysis usually includes a lot of the genome or a lot of the exome – but not the entirety of either.  They don’t quite go the whole nine yards. The limits of some “whole” techniques and platforms become even more salient when you understand that they may not reliably detect some of the most common DNA-based disorders such as Down syndrome, fragile X syndrome, and alpha-thalassemia. I suggest that we drop the word “whole” and simply call it genome sequencing or exome sequencing, a practice I’ve already seen in some journal articles. But it should include a descriptor that indicates which technology was used to sequence the genome – short read, long read, optical mapping, etc. Each has its strengths and limitations and knowing which technique was used informs us as to which conditions are reliably or unreliably detected.

Incidentally, genome was coined (as genom) in 1920 by the German botanist Hans Winkler. Until the discovery that most DNA was non-coding, the word genome implied the sum of an organism’s genes. Now that we know that only a smidgen of an organism’s DNA are genes as we understand them today, the 20th century sense of genome does not align with the current sense of genome that refers to the entirety of an organism’s coding and non-coding DNA. Exome, on the other hand,  arose out of 21st century technology. The earliest article I could find in PubMed that used exome in it’s title or abstract was a 2008 publication about J. Craig Venter’s exome (Venter was the senior author).

Gender Neutral Pronouns and Verb Agreement – I wholeheartedly support the use of gender neutral or third gender pronouns in English, even if I think a few of them like zie, zir, and ver will not likely catch on. The vagaries of language evolution could ultimately prove me wrong but no matter how conscientious and respectful you try to be, these neologisms entail learning new words that have no clear etymology to guide the user or listener as to their meaning. However, pronouns such as “they” or “them” as a singular subjective or objective pronoun or “their” as a singular possessive pronoun have gained more linguistic traction. These pronouns have historical usage as a a singular form. Take the sentence I wonder who left their mobile phone on their seat in the auditorium? Whoever it is, they are not going to be happy when they realize it. “They” is a pronoun substitute for the singular “that person.” This sentence would have been perfectly clear and acceptable in just about all English dialects well before gender neutral pronouns became a subject of debate and discussion. Further, “they” and “them” do not have a linguistic history of denoting a specific gender.

My question, though, is not about which pronouns will survive the test of time but rather which verb form to use with that pronoun. Does it call for the plural or the singular verb form, as in “They are” or “They is?” I vote for “They is.”

I confess to being a bit of a fanatic about the arcana of grammar and syntax, but I am not a language tyrant. Language evolves so quickly that the “rules” desperately try to keep up with usage. Good writers instinctively know the rules and then go about flaunting and manipulating them. I am not trying to be snobbishly picky when I raise the question of pronoun/verb agreement. There are two important issues raised by verb choice in this situation, one of meaning and one of value judgment. “They is” clearly communicates the meaning of one, and only one, person rather than a group of people. The value judgment implied by using the singular verb  is implicit acceptance and acknowledgment of the person’s choice to not identify as being of male, female, or any gender. The slightly jarring effect of hearing a singular verb follow a typically plural pronoun makes “they” stand out in the sentence. It’s not just any old use of “they.” It’s a special case that reflects and honors the desires of that person.

Yeah, I know. “They is” just sounds plain wrong. But it only sounds wrong because we are used to having heard it another way for our entire lives. If the singular verb is used more frequently and consistently, the dissonance will fade. I remember the endless discussions about whether one should use a singular or plural verb with the word “data.” Now, it’s like Who Cares? “Date are” and “Data is” both now sound equally fine and either form is considered acceptable by most authoritative usage guides. Rule-obsessed grammarians can argue all they want; the rest of us just get on with our linguistic lives.

No doubt some of you will disagree with my suggestions. So I open up the discussion to the Good Readers. What do you think? And is there other vocabulary that needs reconsidering and discussion?

 

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How Much Is That DNA Test In The Window, The One With The Waggely Price?

The recent stories about Medicare fraud and genetic testing have been pretty awful. Taking advantage of older people in order to scam the government…. well, what can you say? There’s a cheater born every minute and they are doing their best, or, really, their worst, to turn honest people into feeling like suckers.

Moral outrage aside, the stories got me to thinking about how unsure I am about the costs of genetic testing and how it gets billed to patients and insurers. Important point – I am not suggesting that reputable labs are flimflammers or hucksters. I am forever grateful to labs for their efforts in working with patients’ health insurers to determine coverage. I understand that pricing structure and billing are complicated even for professionals who spend their whole life doing it. Labs should make as much legitimate profit as they can. Sometimes the eligibility and testing guidelines are not so clear. I was born – but not yesterday.*  I just don’t know how it gets done and how the rules and regulations are navigated, at least in my narrow world of cancer genetics, though I suspect it is a problem in other specialties too. I’ve tried to become an informed user but it is a dense subject.  I feel as clueless as Buzz Lightyear (or, as Woody sometimes calls him, Buzz Light Beer). Genetics is easy in comparison. So I have questions.

I understand that each lab negotiates prices with each private health insurer and that the specifics are sort of Top Secret. But why are the negotiated prices for essentially the same test so different for each lab and insurer? Surely insurers are not so incompetent that they don’t realize this. They too are looking to be as profitable as they can be. All else being equal, shouldn’t insurers negotiate about the same price with Labs A, B, and C?  And if Lab D doesn’t like the price, well tough on them and they can be  relegated to the dreaded status of  “nonpreferred lab.”

Then there’s Medicare. Medicare rules vary a bit by region and are potentially negotiable in particular instances. But Medicare guidelines make it clear that usually patients must have a diagnosis such as breast or ovarian cancers (and in some situations also need to meet family history criteria) for testing to be covered. Some labs will not bill Medicare for patients who do not meet criteria and charge patients an out of pocket amount consistent with what they would have charged Medicare if it was a covered service. Other labs will bill Medicare and appear to eat whatever Medicare does not cover. Is it all a matter of different interpretations of ambiguous bureaucratic wording? And is it an illegal inducement if a lab offers free genetic counseling along with testing?

When insurance is bypassed and  a patient pays out of pocket how is it that the charge to the patient for more or less the same gene panel across labs can range from $250 to ~$2,000? Depending on which lab you use, patients can even get a panel for fifty bucks if they are “fortunate” enough to have a pathogenic variant segregating in their family. Or the patient at risk for a specific familial pathogenic variant could get the gene in question sequenced, but not a panel, for free, if testing is ordered within 90 days of the relative’s test. Or that same patient could just be tested for the specific variant and pay around $400-$500 out of pocket. If you have prostate cancer, or certain other genetic conditions, you can get a panel test at no charge because the testing is “sponsored” by a separate lab, usually from Pharma, with whom de-identified data may be shared (is it still possible to deidentify DNA anymore?).

I am all for removing financial and other barriers to genetic testing and counseling. I work hard at making sure my patients pay the lowest possible price for a quality test. I understand the need for research and cooperation between labs to develop new treatments. And it can be cut-throat competition out there where everyone’s trying to hack off a big chunk of market share. For sure, many of these issues are symptoms of the crazy health care system and spending in the US. At the same time, I wonder whether my pursuit of making sure that my patients  get coverage for their genetic testing is blinding me to problems with billing and charging. I do not want to cross any ethical or legal lines and I don’t want put my patients in financial jeopardy.

Perhaps the Good Readers of this blog are willing to share their insights and stories. Please don’t name names or try to vilify a particular lab; keep it de-identified. We can air it out collegially and constructively.


  • – I admit that I stole this great line from Season 2 of the Showtime series The Chi.

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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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