Tag Archives: counseling skills

Genetic Counseling ≠ Genetic Testing

I know that I am old and curmudgeonly. I acknowledge that my musical tastes and my concept of genetic counseling are hopelessly stuck in the 20th century. I sense in a frighteningly helpless way that my generation of genetic counselors is becoming increasingly irrelevant to the profession. It is like watching the air slowly leak out of my inflatable raft in the middle of a swift flowing river and realizing I don’t have a lifejacket. If you press me on it and buy me a few drinks, I will let slip out an admission that DNA analysis technologies like ion semiconductor sequencing and pyrosequencing are incomprehensible magic to me. I feel like I have become a visitor in my home country and I can barely speak the native tongue anymore.

So this paradox might sound like a useless warning flare fired from a sinking vessel before it goes under, a futile attempt to alert my younger upstream genetic counseling colleagues who are new to navigating these tricky waters: I love genetic testing; I hate genetic testing.

Genetic counselors and genetic testing have grown hand in hand since the early 1970s. At least in the US, one would not have flourished without the other. Amniocentesis, CVS, carrier screening, maternal serum screening, ultrasound, DNA sequencing, microarrays, and other genetic testing advances have all been ushered into medical practice by the genetic counseling profession. The tests generated a need for our unique skill sets along with the security of employment and the financial wherewithal to support our positions. Without genetic testing, we wouldn’t be where we are today. So what’s to complain about, even for a complainer like me?

Well, I have two related complaints. My first complaint is the ever-expanding list of genetic tests that we feel obliged to offer our patients in prenatal, oncology, and other settings. Don’t get me wrong – I think genetic testing can be incredibly valuable from both a medical and a psychological perspective. But I wind up spending way too much valuable counseling time highlighting the differences between Panel A and Panel B and the relative merits of this lab versus that lab. And, oh, by the way, many of the genes included on these panels are largely irrelevant to your particular clinical concerns. I hear similar plaints from some of my colleagues in prenatal – this carrier test for 75 conditions or that one for 200 conditions, or this prenatal screen versus that prenatal screen.

It is often not clear to me why some of these tests are part of clinical practice to begin with. Probably a variety of forces are behind it – the push from labs to offer more tests and to compete with other labs; the common trait of genetic counselors to be early adopters of new technologies; trying to show that we are at the cutting edge of genetics; our obsession with offering ALL options to ALL comers; demands from patients and referring physicians; worry that if we don’t offer the shiniest, newest products our patient population will go shopping at the next medical center down the road, or Heaven forbid, shop online; and a nagging fear of being sued or at the very least of providing sub-standard care. As I have written about previously, sometimes genetic tests became standard of care before they were thoroughly vetted, evaluated, and debated.

Which leads me to my second complaint. There is a tendency, sometimes overtly and sometimes silently, to conflate genetic testing and genetic counseling. Yeah, sure, genetic testing is an important part of what many of us do, but my job title says counselor, not tester. For some genetic counselors, testing is not even part of their job. We educate, provide clinical expertise to other care providers, and participate in research. There are other services we provide to our patients, not the least of which should be an intense psychological, personal, and occasionally angst-filled exploration of why patients might even want testing to begin with, never mind which test they want. We are there to support and work with them when no testing was done, when testing is irrelevant, or when testing was done in the past and we are helping them adapt to their new medical and emotional status. Let’s look at what your worries and fears are, and why you are in my office to begin with. What has it meant for your life that you or your child or your sister have this condition? What resources do you need? How have your loved ones been supportive or not of you? What are your health care and life goals? Or bigger picture questions such as what are the medical, economic, and social impacts of genetic disease?

At times I think that genetic counseling for psychiatric conditions is the last pure form of genetic counseling – reliable genetic testing is not available for most psychiatric conditions, so you are “forced” to rely on your counseling and clinical skills. Okay, so perhaps I exaggerate a bit, but you catch my drift. I remember my long time colleague Vickie Venne once saying to me that cancer genetic counseling became a lot less interesting to her once BRCA testing became available. While not denying the many benefits of BRCA testing and how it has helped save lives, there is a measure of wisdom in Vickie’s statement.

As a profession, we should extol and support our role in ordering and interpreting genetic testing. But we, or at least I, don’t want testing to be our defining activity. Yes, as one of our skill sets, we are pretty damn good at it. But let’s not forget that it is a counseling session, not an Informed Consent session or a sales pitch. We should boast more about our abilities to help patients make sense of genetic disease for their lives in a psychologically meaningful way, and testing is only one means of achieving this goal. Genetic counselors are not Genetic Testers; Genetic Counseling is not Genetic Testing.

 

 

 

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“Traditional versus Non-Traditional” ?

To be honest, I really dislike that phrase.

Related to Allie’s recent and timely post as well as my own recent job change, I have been thinking about “traditional versus non-traditional roles”. This phrase sometimes feels like code in “Genetic Counselor Speak” for seeing patients versus not seeing patients, or , employment in a genetics clinic in some capacity versus some engagement with genetic testing companies/interpretation of testing (admittedly, research counselors seem to fall somewhere in-between).

Non-traditional roles always seem to focus on the “genetics” side of being a genetic counselor, but there is little discussion regarding non-traditional roles related to the “counseling” side of being a genetic counselor.

Perhaps this is because GCs see some degree of counseling as intrinsic to the “traditional” model. Perhaps this focus on the genetics side is because there is little pay or other tangible incentive to take a counseling-centric approach. Perhaps it is primarily because we are not as well-trained to take on the more intensive, long-term counseling roles some patients made need as we are trained to take on the more intensive genetic interpretation roles. Perhaps many genetic counselors have less interest in this side of our field.

But, there is no doubt that the current emphasis in clinical genetics and genetic counseling is on factual information, patient education, patient autonomy, and yielding a profit (understandably) and NOT on therapeutic counseling. There is often less time to focus on the counseling side of our work unless you work extra hours, which leads to increased risk for burnout along with a decreasing ability to connect with patients and even coworkers. However, I think there is an alternative niche out here for us GCs with an interest in this type of “non-traditional” role. I think there is another way for GCs to remain interested in their work and grow.

I have been fortunate enough to feel that I frequently form a strong/meaningful patient-counselor bond and I do tend to derive a great deal of satisfaction from this, in both settings I have worked. But, I worry about burnout…I worry my abilities may diminish over time, or, equally scary, not improve without additional support.

Because I want to be as engaged and productive as possible in all areas of my life (as most of us want) without burning out, I can’t help asking myself the cliché question:

Do I work to live or live to work?

I think many genetic counselors face this question as the demands of “traditional” genetics roles become overwhelming and tiring (ordering and coordinating testing, keeping up on new trends in genetics, administrative tasks, insurances, attention to varied patient needs, etc, etc, etc..)

I do not want to live by either mantra above. I want my work to be meaningful, thought provoking, and impact others in varied ways. I want to be engaged with my work. At the same time, I do not want to work to be only defining factor to who I am or control my ability to engage in other interests, relationships, hobbies, travel, [insert your interest here]. I think the increasing demands on genetics departments from a genetics point of view can make it harder to find a satisfying work-life balance, particularly when it has been shown that the greatest deal of satisfaction from work often comes from the personal meaning we can find in our patient care. See quote from Genetics in Medicine in 2009:

We show here that increased “personal meaning in patient care” is inversely related to distress and burnout. Increased meaning may be derived by forming strong connections with patients. Such connections are fostered through bearing witness, which has been described by Naef as a fundamental process of “being there and being with, listening and attending to, and staying with persons as they live situations of health and illness, shape their quality of life, search for meaning, struggle to make difficult choices, and experience intense moments of recognition, fear, joy, and sorrow. (“Distress and burnout among genetic service providers” in Genetics in Medicine Volume 11, July 2009)

My recent silence on the public side of this blog has been partially related to some sense of disillusionment and internal confusion about where this profession is heading, where my own career is heading, and how much control I have over that in light of the economy and demands on genetics departments (perhaps common concerns to many GCs these days). When I hear or read someone is moving into a “non-traditional role” I get a little worried – where is the space for a “non-traditional” role that allows for more in-depth analysis with patients of the issues and implications of hereditary disease on people’s lives and families? Where is a role for me when/if I get “burnt-out” from the “traditional roles” of a GC in a genetics clinic?

Burnout and work-life balancing are big issues in many professions, but I wonder when and how often other GCs are feeling this strain. I wonder how many other GCs see furthering their counseling skills as another opportunity for a “non-traditional” role.

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Guest Post: The Counselor Intimidated: A Professional and Personal Experience with Genetic Counseling

By Aimee Tucker Williams

Aimee Tucker Williams is a board certified genetic counselor.  She spent 8 years as an Assistant Professor at The University of Texas Medical School at Houston and was a major contributor to their Genetic Counseling Program prior to a geographically forced retirement.  Aimee is now a Professor of All Things Mom to her daughters, ages 4 and 2, and once again lives in Houston.

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I remember my first abnormality as a genetic counseling student.  It was a routine AMA case that I hadn’t put much thought into….because by then I had done about 20 AMA sessions and aren’t they all the same?  The woman was 38 years old and had the kind of shrewd and steely exterior of many of the patients I encountered in my briefly adopted home of Chicago.  I didn’t have any sort of empathetic connection with her and frankly, she intimidated me, so I happily went on my way post-session, warm in the knowledge that I would never see this person again.  Well, as seems to happen more often than not, the patient that intimidated me became the patient that was carrying a pregnancy diagnosed with Trisomy 18.  She was the patient that I would have to call and inform of this news, the first patient that I would have to counsel and console.

I was petrified.  After a number of failed attempts to complete the phone call, I forced myself to dial her home number and prayed that she wouldn’t pick up the phone.  She did.  I stammered my way through the initial disclosure of information. While I don’t remember the words I used to convey the news, I remember their seeming pitifully inadequate for the situation at hand.  And while I barely remember my further interactions with this patient, I know that I counseled her regarding the diagnosis, potential outcomes and options.  What I do remember is that although I felt some compassion for this person and what she was going through, I felt very little empathy.  I watched her leave the session thinking, “thank goodness that is over for me.”  My fear of this woman prevented me from giving her what she needed, and although I knew that and regretted it at the time, my concerns were centered more strongly upon my own personal relief.

Flash forward 10 years later. I am pregnant with my second child and will be AMA at delivery.  My family and I are living in Brazil at the time, where abortion is illegal and amniocentesis is not routinely offered to anyone under the age of 38.  My ob/gyn is reluctant to schedule me for an amniocentesis despite my urging and so, I take matters into my own hands and schedule myself for genetic counseling and a CVS during a serendipitously planned trip to the U.S.  I am frankly excited to go through the entire process, and while my husband’s knowledge of genetics has been extensively developed by osmosis after years of hanging out with counselors and their spouses, he still deserves to get the whole “spiel” prior to testing.

While you could never call me steely and I can only use the word shrewd to describe myself in relationship to bargain hunting, I strangely found myself in the shoes of my first abnormality patient that day.  Apparently the counselor who had been given our chart that morning had not been informed that I was a colleague.  The counselor (who I will call “C”) was a recent graduate and did a wonderful job of giving us the pertinent genetic information; but I could sense that “C” was intimidated by me as I was by my patient years ago.  I could practically hear “C” breathe a sigh of relief as we left the office, thankful that that session was over.  Unfortunately for my husband and me, our genetic experience was not destined to be over.  About a half an hour later, we found ourselves in a darkened ultrasound room quickly, and dare I say, shrewdly, making the decision to terminate a much wanted pregnancy.  The baby had a lethal birth defect and we knew, as we had always known, that we would not continue a pregnancy in that situation.  The MFM did his best to help us coordinate a termination during our short visit, and when he couldn’t, we asked to be shown to a room where we could make some phone calls and arrange for a termination in Houston, our next stop in our US visit.

The first person I spoke to after being shown into a consultation room was a genetic counselor.  I called my colleague and friend in Houston and, for the first time since being given the heartbreaking news, cried out my pain and disappointment over our loss.  She and others arranged for our termination procedure later that week and supported me as friends and genetic counselors do.  I never saw our genetic counselor again.  I don’t know why “C” never came to see us.  It could be that the MFM felt we had already been served as we had made our decision regarding termination and “C” agreed.  It could be that “C” was never told about the abnormality.  Or, as I fear, it could be that “C” was so intimidated by counseling someone more experienced than themselves, that we were left alone with the rationalization that I clearly had the bulk of the information I needed to handle this situation.

The thing is…we didn’t have the bulk of the information. At that moment, all we had was grief.  All we had was sadness, followed by numbness, followed by the surreal experience of being pregnant with a baby that in a few days time would be removed from my body because of the results of a half-hour ultrasound procedure.  I spent the next few days visiting with family and friends, taking my husband and daughter sightseeing and suffering from continued morning sickness, all the while reminding myself that I was no longer pregnant with a baby we were going to have.  We went through the gamut of emotions and experiences I had only heard or read about in my 10-plus years of experience, and likely had some unique experiences as well.  But, we never had anyone sit us down and lay all of the genetic information that went along with our baby’s diagnosis.

A week later, after all had been said and done, it finally occurred to me to do research on the Internet regarding the diagnosis we had been given.  I was mortified to realize that the anomaly, which I had immediately assumed to be of multifactorial inheritance, could be suspected in both an autosomal recessive condition and in a sporadic one with a fairly decent recurrence risk due to gonadal mosaicism.  My first reaction to this news was anger at myself; why hadn’t I thought of these possibilities!  My second reaction was fear for our future; would we want to attempt another pregnancy unarmed, so to speak?  My third reaction was anger at the MFM; why didn’t he continue the scan to the best of his abilities, ruling out any further abnormalities that may signal a condition with a sizeable recurrence risk?  To this day, I have never been angry at the genetic counselor.  Should I have been?

No, I can’t be angry at “C”; if I were, I would have to be angry at myself for past sessions where I was the “counselor intimidated.”  What I can hopefully be is helpful, by reminding my colleagues that even the intimidating patients can benefit from the most basic of counseling strategies. Simply walking into the room and telling the patient that you are truly sorry for the situation they are facing is more beneficial than you realize.  Every patient will do what they will with this statement…some may say thanks and shut you out, some may cry inconsolably, some will ask you to stay and support them.  The point is, you were there for them in whatever capacity they required and this is nothing for you to fear.  Speaking from a more logistical (and legal) standpoint, remembering that you are responsible for giving every patient the genetic information they need in a way that they can hear it is key.  Ultimately, you are responsible for recurrence risks and you must find a way to get that information across.  I can guarantee you that in a matter of a couple days, weeks or months, that patient is going to wake up one morning and say to herself, “Could this happen again?”  Lastly, you must never assume a thing about your patient’s needs.  You could have a Nobel Prize winning geneticist sitting in front of you, and they will still require you to lay out their pertinent genetic information in a manner appropriate to their situation; you may someday counsel a vocal pro-life politician who would consider termination if placed in the position we were in.  You just never know what to expect.

We are fortunate to be in, and constantly challenged by, a field that gives us a unique opportunity to help hapless individuals, such as myself, navigate the unexpected. But the unexpected can do crazy things to us and to our patients.  While the points I raise above sound fairly simple, they can sometimes be forgotten when confronted by a patient who pushes our own personal “fear” buttons.  I was that patient, and I have to say that the fear I felt while sitting in that ultrasound room was monumentally greater than any fear I ever felt as a counselor.  Hopefully our story will help you to keep this in mind during your practice.

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The Small Satori of Genetic Counseling

Let’s face it – lots of genetic counseling is repetitious. Most of us have subconsciously scripted our own version of a counseling session that we follow more rigidly than we like to admit, the inevitable outcome of seeing hundreds of fairly similar patients a year, year in and year out. On particularly busy days, you may even  lose track of where you were  in the session when a patient asks a tangential question or there is a knock on your door. It can be a slog, a Groundhog Day-like re-playing of the same film with only minor variations.

This repetition stems to some extent from the educational component of genetic counseling, the need to impart complicated biomedical information with the ultimate goal of helping patients making good decisions about their medical care and lives. We want to combine knowledge with emotional guidance so patients can gain wisdom and personal insight. Sometimes, though, as you watch dazed patients stumble out of your office, you start to wonder just how effective or helpful you have been.

On the other hand, there is a zen-like quality to constant repetition of the same act. By focusing strictly on the task at hand you master it through endless repetition. You eventually perform without thinking of the mechanics of performing, and achieve a state of mastery without thought .  Chop that wood, carry that water. Brush left, brush right, Karate Kid. This frees the mind, making it receptive to sudden, unanticipated moments of enlightenment – satori, in the language of Zen. With a free mind, you can subconsciously pick up cues from patients’ words, expressions, and postures, and suddenly, you see into the heart and soul of your patient – Wumen’s thunderclap out of a clear blue sky. Ah –  this cancer patient is angry because his mother walked out on the family when his father was diagnosed with terminal colon cancer, not because I kept them waiting 15 minutes for the appointment. Look – all the worry left her face when I said she really did not need to have an amniocentesis; she just needed someone in authority to tell her that it was a good decision.

What we really want, though, is for our patients to also have these small satori,  those magical moments when their faces light up, their eyes open wide, and everything falls into place for them.  These are some of the most rewarding and exciting moments of genetic counseling. Yes, yes, of course – I must tell my sister about my BRCA results to make sure she does not get ovarian cancer. She’s my sister ; I love her even if we are always bickering. You know – I just realized I do not need to have an amniocentesis; for some crazy reason, I was going to do it for my friends.

Repetition is critical to our professional development. In quiet, not-quite-perceptible ways, it builds our confidence, enhances our ability to understand our patients on a deep level, and plows the soil for the seeds of personal growth. For the compassionate bodhisattvas among us – like Jon Weil, June Peters, Luba Djurdjinovic and a few others – thunderclaps are second nature. For the rest of us – well, it’s back to chopping wood and carrying water.

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