Author Archives: Robert Resta

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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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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Guest Post: We Can Do Better – The Experience of a Minority Genetic Counselor, by Tala Berro

Tala Berro is a genetic counselor in the Boston area. She is a queer, Arab woman who is also a racial justice and LGBTQIA+ activist. You can follow Tala on twitter here: @tala_berro

Bob Resta recently wrote a blog on his experience of being a man, as well as the advantages and disadvantages of being a woman, in our woman-dominated field. He called upon us good readers to share experiences “where you are not quite like everyone else.” Being a queer person of color in genetic counseling, I immediately took up his call. In part due to my various identities, there have been countless instances during my genetic counseling training and career when I have felt “not quite like everyone else.”

Let’s start with intersectionality, a term coined by Black feminist scholar Kimberlé Crenshaw in 1989 to highlight the ways in which black women were excluded from the feminist movement. Crenshaw notes that “not only are women of color in fact overlooked, but their exclusion is reinforced when white women speak for and as women.” In this blog post, I want to take a deeper dive into how my own intersecting identities as a queer, Arab woman affect my experience as a genetic counselor.

The genetic counseling profession within the Unites States is overwhelmingly white. As reported by the National Society of Genetic Counselors (NSGC), 92% of the 2018 Professional Status Survey respondents identified as white, which is easily visualized when one walks through the exhibit hall at the NSGC Annual Education Conference. Although there are many reasons why we often see a higher percentage of white individuals in jobs that require a graduate degree, genetic counseling is an especially white field. In comparison, 54% of software engineers are white, 80% of public school teachers are white , and 68.2% of physicians/surgeons are white.

The foundation of empathy is what drew me to the genetic counseling profession. I knew that I would come in as an outsider, but I hoped that caring, open-minded genetic counselors would make for caring, open-minded classmates, supervisors, and coworkers. However, we have a long way to go. Genetic counseling training programs incorporate lessons on the importance of culturally appropriate counseling of patients, but this same openness and acceptance is not always extended to fellow genetic counselors.

I started to notice my “otherness” in the field of genetic counseling from the beginning of graduate school. Being an Arab genetic counseling student always had its pros and cons. My favorite instances as a student were when an Arabic speaking patient would come into a genetic counseling session and I could utilize my knowledge of Arabic. This shared language and its ability to add comfort to my patient always felt really special. More often than not, though, sessions with Arab patients would end in a debriefing session with a supervisor who would ignorantly state microaggressions, judging family sizes, and gender dynamics. After one of these sessions, my supervisor and I were discussing the patient and mentioned the specific Arab country they were from. A medical professional in the workroom overheard and noted that, to her, this specific country is associated with danger and violence. There was no response to this comment. I was left shocked, dismayed, and anxious, without an outlet to seek support from other genetic counselors of color or Arab background.

What is currently seared into my mind as a genetic counselor of Arab descent whose community often attends mosque, is the massacre in New Zealand. I came to work devastated and shaken. While not all individuals of Arab descent are Muslim, I (and many others) consider those who are Muslim to be members of my community. Perhaps a genetic counselor saw a Muslim patient that Friday and provided comforting words. I wondered, though, how many genetic counselors reached out to their peers or students who may have been impacted by this. From my own experience of not receiving messages of support, I would guess not many.

In addition to racial barriers, being a queer genetic counselor comes with its own barriers to navigate. Based on my training experience, genetic counselors are growing in their awareness of pronouns and gender identity, often using the word “partner” when counseling. However, on an interpersonal level, it takes more than just awareness for true inclusion. I recall a conversation from back when I first started as a genetic counseling student in which I proudly identified myself as queer. This statement was met with discomfort and confusion. I know that genetic counselors are educated on the importance of mindfulness and inclusivity of the LGBTQIA+ community and are taught to be verbally-inclusive with patients who identify this way during a session. However, there seems to be a discrepancy in how these lessons of acceptance are actively applied by genetic counselors in and out of clinic. The ability to sustain a relationship with a patient over a 60-minute genetic counseling session does not translate to intentionally cultivating an authentic relationship with someone of a different identity from you.

One universally challenging aspect of genetic counseling training is providing and receiving feedback. To be evaluated on your words, demeanor, and body language while you are learning to interact with patients and cope with emotional situations is difficult. However, feeling like you are also being evaluated for your values, beliefs, and cultural upbringing is much harder. At times, I have been critiqued for my character and values, as opposed to my specific counseling skills. I have been encouraged to “play devil’s advocate” to my own beliefs. For example, during my training, I was given feedback that highlighted my potential to advocate for underserved patient populations, and also challenged me to find ways of connecting with patients who are different from me. This feedback came before I even had the opportunity to interact with a single patient. I felt critiqued not on behaviors I exhibited but on behaviors that were assumed of me. It also felt like this feedback was unnecessary reiteration that I am different, as the minority, and that I will be expected to live and fit in a world of the majority. Through these experiences I wondered: were my professors and supervisors feeling defensive because I was different from them and teaching me felt different than teaching others in our field? Who could I turn to within the field to talk about my thoughts and concerns?

Whenever I hear the term devil’s advocate, I think back on a blog post by Juliana Britto Schwartz. She writes, “dearest devil’s advocates: speak for yourself, not for the ‘devil’. Teach yourself. Consider that people have been advocating for your cause for centuries, so take a seat. It’s our time to be heard.” It is often forgotten that those with underrepresented identities have lived their entire lives being forced to understand the majority. These same privileged experiences to which I was encouraged to have an open mind are mirrored by what I read about in fiction, watch on television, and learn about in the history books. As a queer genetic counselor of color, I understand how to navigate these spaces because I have been forced to my whole life and will continue to do so in my professional life. Instead of ensuring that I understand and empathize with the majority experience, why don’t we make sure that the majority understands and empathizes with the minority experience?

As genetic counselors, we consistently discuss and learn about empathy for our patients. My hope is that we can take these lessons and apply them to our colleagues and peers outside of a counseling session. To my fellow genetic counselors, I propose the following version of the golden rule: treat your peers as you treat your patients.

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Anonymous Guest Post: Being A Genetic Counselor As Someone Affected by Mental Illness

This anonymous guest post was written in response to a request in a recent blogpost by Bob Resta asking for genetic counselors who feel that they are different in some way to write about their professional experiences. In a departure from the usual policy of The DNA Exchange, we have agreed to respect the author’s wish to maintain anonymity. For another view of life as a genetic counselor with a perceived disability, see Kelly Rogel’s post from about 10 years ago.

Around six years into my career as a genetic counselor I was given the diagnosis of bipolar type I. Previously I had a diagnosis of severe depressive mood disorder since I was 18 and had managed to make my way through college and into the work force (although it was a very rocky path) before I received the proper diagnosis and medication.

How did this diagnosis affect me as a genetic counselor?

The stigma surrounding mental illness is huge. While I believe it is getting better, I have been at clinical meetings where patients with mental illness have been discussed by different specialists and it seems that the patient is reduced to just their diagnosis. Bipolar, schizophrenia, obsessive compulsive disorder…this make me fearful of disclosing my disorder to colleagues. At the present time my direct supervisor and the head of the department know my diagnosis and are highly supportive. I struck it lucky, however. Unfortunately, in a lot of situations once you have that label of being bipolar it seems everyone looks at you through that lens all the time. Having a bad day? Oh, it’s the bipolar and you’re depressed. Feeling great? You must be manic. It’s frustrating and also means you are constantly second guessing yourself. It also means people aren’t recognizing that you have the normal range of emotions as everyone else – you are not your diagnosis.

It is both a blessing and a curse that bipolar is an ‘invisible’ disorder. You can’t look at me and tell that I have a mental illness, so I don’t have to disclose it to anyone if I don’t want to. However, there are days where getting yourself dressed to go to work feels like walking through quick sand, or you have foggy thinking due to the medication you have to take, and it’s hard to explain this to people when on the outside there’s nothing “wrong” with you. Obviously if these side effects are extreme then it might not be appropriate to be in the workplace, but there are many days that you do have side effects from medication, for example, but it’s not severe enough that you need to take a sick day. It’s a bit like having a mild cold and going to work anyway.

With bipolar, if you want to function then you have to learn how to develop insight into your condition and know your “‘red flags” for both depression and mania. This means that if I feel myself heading in one direction or another, I can nip it in the bud using medication and other treatments before I become a danger to myself or to patients. Unfortunately, I have experienced psychosis several times and have needed hospitalization once in my time as a genetic counselor. While my mental state was deteriorating my supervisor and I made the decision to take me off seeing patients until I recovered. An independent clinician provided by the hospital saw me to assess when it was safe for me to begin seeing patients again.

With patients it’s given me empathy and an understanding of those who have their own mental illness. I am often able to suggest resources available through the public health system that I am aware of that others may not be. For several reasons, though, I do not in any circumstances disclose my condition to patients. I feel that it would be unprofessional to do so as it takes the spotlight off the patient and moves it on to me, I feel the stigma around mental illness may be detrimental to the counseling relationship, and I also feel that you don’t have to have a mental illness to feel empathy towards someone with the condition. I also do not want my patients or colleagues feeling that my clinical care is impacted by my diagnosis.

It’s a difficult life to lead, but I know I’m very lucky to have highly supportive supervisors who have truly made an effort to understand the condition and how it is managed. I imagine my experience would have been very different if the resources available were not in place or I didn’t have access to them.

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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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