Tag Archives: Robert Resta

Change My Name, Change My Name?

At the recent NSGC Annual Conference, Carla McGruder chaired a sparkling plenary session titled “Say My Name, Say My Name”during which panelists debated the pros and cons of the professional title Genetic Counselor (there was widespread disappointment that Beyoncé did not make a guest appearance). The general sense I got from the debate was that there was enthusiasm for a name change and that a new professional title may ultimately prove to be destiny’s child, but for now no one offered a particularly winning alternative (see below word cloud from the session). Perhaps unsurprisingly, nobody brought up my two biggest long-standing concerns about the genetic counselor title. One is that the oft-used abbreviation of GC for genetic counselor is also the abbreviation used for gonococcus bacteria (though then again it could also more appropriately suggest guanine and cytosine). My other concern is that we should more properly be called genetics counselors; genetic counselor without the “s” at the end of genetic makes it sound like being a counselor is a hereditary condition, the result of some likely pathologic variant. I am pretty sure, too, that lots of genetic counselors in Canada, the UK, Australia, and some other countries would prefer everyone spell it “genetic counsellor.”

Word Cloud for suggested alternative professional titles for genetic counselors, from “Say My Name, Say My Name” panel discussion at the NSGC’s 42nd Annual Conference in Chicago, October 20, 2023. Reproduced with kind permission of session chair Carla McGruder, MS, CGC.

Debate about what to call ourselves has surfaced with some regularity since the profession was birthed a half-century ago at Sarah Lawrence College, and in a journal article by Jehannine Austin and their group at the University of British Columbia, as well as being the subject of two prior DNA Exchange postings, one by my DNA Exchange colleague Allie Janson Hazell and one by me. I suspect that currently the name debate is driven by the profession’s expansion into so many new employment niches, many of which do not involve direct patient care. It may also be influenced by the increasing trend of the profession defining itself – and being defined by other health professionals – in relation to genetic testing.

Let me state my biases up front. I am opposed to a name change, at least until you can show me something better that will justify the very extensive, expensive, and intensive efforts of introducing a new name and eliminating an old one. Of course, my biases are partially driven by being an Old School GC, having graduated in the Late Neolithic Period of genetic counseling, back in 1983. There’s always the attitude of “Damn it, the way I was taught is the right way.” And even if someone comes up with a better job title, I will still likely go to my grave calling myself a genetic counselor. But my personal hang-ups and emotional reactions aside, let’s take a look at some of the pro arguments and why I think they fall short.

One of the pro arguments for a name change centers on lack of public awareness of just what a genetic counselor is or does. Yeah don’t we all know that one! I can’t disagree with this point. But changing our name will not in and of itself improve public awareness or visibility. The alternative names are equally or more ambiguous. Patients will probably react with uncertainty to titles that include the likes of analyst or consultant or specialist (to name just three) and it will do nothing to clarify how we might help and serve them.

While acknowledging the general lack of public knowledge about genetic counselors, we have nonetheless made remarkable progress in increasing awareness of the job title, both with patients and healthcare providers. The below Google Ngram, with all of its limitations, gives a rough idea of how much awareness of genetic counselors has increased since Sheldon Reed christened us in the 1940s, with the ambiguous but reasonably accurate definition of “a kind of genetic social work.” A lot of that progress can get lost if you eliminate the genetic counselor title.

If you really want to improve public awareness, you have to think beyond name changes and PR campaigns. Look at what the Dr. Jennifer Melfi character in The Sopranos did for publicity for therapists. What we need is a successful streaming series about genetic counselors, complete with gratuitous sex and nudity (we can hold off on the violence; there’s more than enough of that to go around in the world these days). I can picture the genetic counseling show’s log line: “Family Lines” – Follow the professional challenges, joys, tragedies, and dilemmas as well as the complicated personal lives of young, attractive, ethnically and gender-diverse genetic counselors as they graduate from their training programs and experience the impact of genetic conditions on their patient’s lives and families as well as on the counselors’ own psyches. Starring George Clooney as the dashing veteran Robert “Bob” Resta whose efforts to guide this gaggle of counselors throughout their careers are undermined by his own very human failings. Consider running the credits over a background of a pedigree being drawn to highlight the commonly used genetic counseling tool and to evoke the name of the show.

Proponents of a name change quite rightly claim that the term “counselor” doesn’t reflect what many genetic counselors actually do in their day-to-day work. Genetic Counselor does not capture the essence of a Variant Analyst, Professional Support Specialist, Product Development Manager, Program Administrator, Researcher, or Medical Science Liaison. But, according to the 2023 NSGC Professional Status Survey, 71% of genetic counselors are involved with full or part-time direct patient care. This suggests that a significant majority of us are actively engaged in genetic counseling on a regular basis, so it makes sense to call us genetic counselors.

Besides, the proposed alternatives capture an even smaller range of what genetic counselors do for a living or otherwise sell our skill set short. For example, one of the suggested alternatives is something along the lines of Genetic or Genomic Information Specialist. It strikes me that the word “Information” misses a critical insight into the human psyche. It isn’t so much the information that’s communicated that is key as it is the way that each person’s mind uniquely interprets that information and integrates it into their lives. this is where counseling skills come in, which, for my money, is what sets the profession apart and makes it uniquely valuable. It gives us a professional identity unlike any other genetics profession or specialty. The value of counseling and communication skills is acknowledged by many genetic counselors employed in non-direct patient care positions, who often claim that their counseling and communication skills have been key in enabling them to expand into their new roles. They are still using basic genetic counseling skills, just in a different context.

Furthermore, I would argue that the very ambiguity inherent in the genetic counseling title is what has allowed us to grow our professional roles. Other professional titles might not provide the flexibility to expand into new and exciting roles. If employers are not exactly sure of what we do, it allows us create new roles that other providers don’t have the knowledge base or skill set to match. As Ed Kloza – who has pretty much witnessed the entire history of the profession first hand – sagely pointed out at the microphone at the “Say My Name, Say My Name” session, the title genetic counselor has gotten us pretty far professionally since the 1970s. Just how has it limited us?

A decidedly practical drawback to changing our professional title lies in the bureaucratic underpinnings necessary to maintain the life of a profession. It’s not just a name that can simply be eliminated by a search-and-replace function. The title Genetic Counselor is written into state licensure laws, pending federal legislation to make genetic counselors recognized Medicare providers in the US, and other countries’ equivalents of licensure. To say nothing of changing job titles by every employer of genetic counselors, the names of a half dozen or so professional organizations, a journal title, and a PubMed search term, to name a few. This could potentially be achieved but you need a very, very compelling reason to expend all that energy, time, and money doing so.

It will be interesting to see what what happens with the job title in countries where the genetic counseling profession is just establishing itself – such as India, the Philippines, and the Middle East. Local circumstances, medical practice, and cultural preferences may wind up generating some very different names and professional practices. But I suspect that they may also want to stick with the genetic counselor title to capitalize on the remarkable progress the profession has made in the US, the UK, Canada, Australia, and elsewhere. The practice and profession may look a bit different around the globe, but they will still be recognizable as genetic counselors and not as something else.

Perhaps too, it is time to reconsider the 2006 standard definition of genetic counseling. While I happen to be a champion of that definition, my professional conflict of interest is that I helped craft it. The current generation of genetic counselors should not necessarily have to rely on a definition created by a previous generation if it no longer captures the essence of genetic counseling. This could have bearing on whether we should choose a new professional title.

For now, though, Genetic Counselor may be a less than perfect name but it is closer to perfect than the proposed alternatives. Give me powerful reasons to think otherwise, and I will change my mind. Until then – Change my name? Nah.

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Just What Are We Trying To Do Here? The Goals of Genetic Counseling

In a previous post, I discussed my disappointment with the state of genetic counseling research. Barb Biesecker rightly pointed out that part of the problem lies in a lack of consensus and clarity about the goals of genetic counseling.

 

So let’s consider some goals of genetic counseling. I make a distinction between Ultimate Goals (i.e., what we ultimately hope genetic counseling will achieve) and Short Term and Intermediate Goals (i.e., key steps towards achieving Ultimate Goals). In my view, the Ultimate Goals of Genetic Counseling are:

1) To reduce the medical, emotional, social, and psychological suffering that results from the genetic contribution to disease.

2) To ensure the cost-effective and equitable delivery of competent genetic counseling services to all people in a manner that respects their dignity, individuality, and values.

Genetic counselors may utilize many different techniques and ethical frameworks – which will vary with the needs and unique situation of each patient as well as the skills and training of the health care provider- to achieve these ends.

These goals offer a framework for evaluating process and outcome studies of genetic counseling. In a very basic example, a method for increasing awareness of preconception folic acid supplementation might produce a better informed patient (a short term goal) which might help achieve the intermediate goal of better adherence to dietary supplementation which would then lead to the ultimate goal of a reduced incidence of anencephaly. An intervention that simply increases education but does not result in greater adherence or a better health outcome is only a very limited success. Another example of how these goals might be used to assess genetic counseling effectiveness could be a particular patient-centered emotionally sensitive genetic counseling technique that resulted in better psychological adaptation to a child with a genetic condition, which in turn resulted in less emotional and psychological familial turmoil and perhaps better health for the child because the well-adapted family is more likely to utilize health care resources.

Although I am reluctant to bring up eugenics because it is an emotionally-charged word that generates argument rather than discussion, as genetic counselors we cannot ignore this elephant in our offices. But if we do not raise it in the context of goals, our critics will. Indeed, one could argue that eugenics would also embrace these same goals. The difference, in my view, lies in means, emphasis, and intent. Eugenics, broadly speaking, is looking to improve the “health” of the gene pool and to reduce the number of individuals with genetic diseases, usually through social or institutional influences on reproduction. Genetic counseling, on the other hand, should strive to reduce the effects of the disease, not the number of people with a particular allele or condition.

But let us not get mired down in endless discussion of the E word. Instead, ponder, explore, question, and critique my proposed goals. Tell me what you think.

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The Problem With Genetic Counseling Research

Researchers are finally starting to pluck the ripe fruit of  genetic counseling. The last decade has witnessed  a flood of articles about the emotional, psychological, and educational aspects of genetic counseling such that I can no longer keep my head above water. Given my long standing passion for research, I should be happy about this state of affairs.  So why do I often find myself let down after reading publications about genetic counseling?

To begin with, the conclusion of most articles can be summarized this way: “Many participants were unable to accurately recall information, some were anxious, and there were varying degrees of depression. There was little evidence of harm caused by genetic counseling and some small evidence of benefit. Most of the participants liked the genetic counselor.” This is basic, intuitive insight obvious to most genetic counseling students after their first couple of clinical rotations in graduate school. The research usually offer little in the way of new clinical insight that can be incorporated into counseling practice beyond the broadest generalities.

Of course recall is poor and anxiety is up; patients are dealing with complex medical information about emotionally sensitive topics like mortality, morbidity, and their reproductive lives. Yet despite these measures of our inadequacy,  in my experience, most patients -with a minority of notable exceptions that each of us can cite from our experiences -seem to make good decisions that are medically sound and consistent with their beliefs and values.

These studies also suggest that genetic counseling is a failure because of poor recall and heightened anxiety, implying that if patients only were clear-headed and  well informed, they would make logical anxiety-free decisions. But the reality is that – except for the small minority of patients with a disproportionate number of Vulcan genes – people are not logic-driven automatons, and anxiety and sadness are natural consequences of discussing death, serious illness, and risks to loved ones. Welcome to life. It also implies that the priesthood of genetic professionals possess The Great Clinical Truth and The Right Numbers when in fact the information and statistics we selectively present to patients are somewhat arbitrary and reflect our own training, biases, and institutional traditions.

Clinicians want their patients to think and act like , well, clinicians. In fact it should be the other way around – researchers and clinicians should be trying to think and act like patients. How is it that patients manage to make good decisions? When is a patient decision good, and when is it bad? Is it because of our best efforts, or in spite of them? How are we helping and hurting them?  What is happening in genetic counseling sessions that is or is not influencing health behaviors?  Can we show that genetic counseling has improved the health of our patients? Are – gasp! – other health professionals or even educational software better at it than we are? Can we use genetic counseling research to provide broader insight into the human psyche and behavior?

What types of genetic counseling research would you want to read or conduct, if you had the time, resources, and money? Which authors should we be paying more attention to? What are the great unexplored areas of genetic counseling? Take a moment to speak your mind and spark our imaginations.

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Our Uneasy Relationship with Prenatal Diagnosis

Genetic counseling and prenatal diagnosis are interwoven in a double helix. It is no coincidence that the genetic counseling profession emerged on the heels of the first “genetic” amniocenteses in the late 1960s. Amnio’s and maternal serum screening (MSS) for Down syndrome were the driving forces behind the expansion of the GC job market, fueled by the sudden blossoming of “advanced maternal age” pregnancies that began in the mid to late 1970s and has continued unabated for 30 years. Not only did prenatal testing open up job opportunities, the attendant laboratory, professional, procedural, and overhead fees opened up significant sources of income to medical centers and physicians and provided funds to cover GCs’ salaries.

Prenatal diagnosis also offered GCs the opportunity to develop a unique clinical expertise in risk assessment, interpretation of amnios and MSS results, and patient communication that established clinical value of GCs for patients and referring physicians.

But for all the economic and professional benefits it provided GCs, prenatal diagnosis has its dark side. A number of critics have rightly pointed out that the unwritten message of prenatal diagnosis – as it is perceived across a fairly broad social spectrum –to people with disabilities is “Sorry, you’re not welcome here.”do not enter

Yes, I know the counter-arguments. Nobody is forced to have an amnio or an abortion.  Parents have their reproductive rights that we unflinchingly support. We all work hard at not trying to consciously influence the routes our patients choose as they travel down the Decision Making Highway. Many of us proudly point to our many patients who have elected to continue such pregnancies.  We also fight the good fight for people and families living with disabilities, helping them in their struggles with insurance companies, educational systems, and a complicated and sometimes uninformed medical system.highway stop

Hooray for us. That is what we are supposed to do.

But our protests that we are supporting women’s hard earned reproductive rights rather than implementing an evil eugenic agenda does not change the way the message is perceived. The availability of widespread prenatal diagnosis is based on the assumption that most parents will selectively terminate fetuses with disabilities, an assumption supported by most published studies. As I have pointed out in other venues, the decision to use age 35 or older as the indication for amniocentesis was not based on some mythical figure about the risk of amniocentesis. Rather, age 35 was chosen primarily on economic grounds, i.e., by that age, the societal cost of amniocentesis was less than the cost of caring for people with Down syndrome. Let’s face it – many parents will choose to avoid having a child with disabilities if they can do so, and that is what drives prenatal screening.

In the eyes of our critics, GCs play a critical role in the delivery of prenatal diagnosis services, and therefore support the implicit negative message.  We are guilty by association if not necessarily by intent.

I do not know of an effective counter argument. Either we choose to acknowledge that this is indeed a valid criticism, the world is sometimes a harsh place, and that is a hard truth of living in a world where women struggle to achieve a full range of reproductive choices. Or we pull out of prenatal diagnosis altogether.  I do not think the latter choice is likely to happen.

What are your thoughts? I look forward to reading your comments and insights. But keep in mind the words of Samuel Beckett’s character Estragon, in Waiting for Godot: “Let us try and converse calmly since we are incapable of keeping silent.”

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