“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.


Filed under Jessica Giordano

The Genetic Counseling Job Search

Last week, I began my third maternity leave contract position. For the most part, I have been very lucky in my career so far. In 2008, I accepted a 9-month maternity leave contract right out of school. The position was posted as part-time (3 days per week), but on my second day it became full time. So I could breathe easy for a while knowing that I could count on 9 months of a full-time paycheck. Beyond the financial security, I also lucked out in that the clinic in which I work is perfectly suited to my career interests and preferred work culture. A few months after I started working, one of the counselors announced she was pregnant, due only a couple of weeks after my contract was set to expire. And thus I began my second year of my genetic counseling position (maternity leave in Ontario is one full year). And then, a couple months before my second contract was up a colleague again announced she was expecting. And here I am, beginning year three.

Genetic Counseling: The Career of the Future

We have all seen the lists and media reports that consistently put genetic counseling in the category of top careers for the 21st century.  When thinking about genetic counseling as a career, I did my due diligence, as I am sure most of us did, and collected anecdotal information about the availability of positions beyond graduation. I learned that if you’re flexible in your location, you can find a job. But if you’re set on working in a specific region, it might be more difficult.

Any student who graduated in 2008, or more significantly 2009 or 2010, knows first-hand that the global recession has done little to help in the area of job seeking and creation. From my experience, in Toronto since 2008 there have been a handful of genetic counseling contract positions that have become available. However, in the past 2 years, there has only been one Toronto-based full time permanent genetic counseling job posting. This posting came out a couple of weeks ago, and is for a relatively unknown and questionable private genetic testing company.

What’s a new GC to do?

While historically there may have been stigma around genetic counselors taking on non-traditional roles, my sense is that this sentiment is now pretty obsolete. However, I do think there is a big difference between an experienced GC moving to a non-traditional role and a new graduate taking on such a role right out of school. Personally, I’d consider a less traditional opportunity in the future, but I must admit that I feel a lot of pressure to get some solid experience in a traditional genetics clinic before thinking about moving elsewhere. From speaking with friends, colleagues and other new graduates I know I am not alone in this thinking. There is a fear of being stigmatized and a fear that taking on a non-traditional role out of school will make it difficult to get a more traditional GC job down the road.

Perhaps this is the downfall of such a specialized profession. GC students spend 2 years getting prepared for one very specific role, only to find that they aren’t able to secure this very specialized position in their city of choice. These young professionals have no choice but to look beyond the more traditional genetics clinics. On the other hand, perhaps the job limitations are a blessing in disguise for our profession. We have young and bright minds heading into the workforce and creating new opportunities for themselves and hopefully paving the way for others.

For me, even though I have been blessed with two, going on three years of wonderful and challenging full-time work right out of school, I do struggle a little with living from contract to contract. This has prevented me from being able to plan ahead in significant ways, such as buying a house and committing to a mortgage. My hope is that at some point I will be filling my own position, rather than someone else’s.

I write about the Toronto GC job market because that is what I know. But I recognize that the job market varies considerably across North America and internationally. What has been your experience finding a job out of school? Have you had to create your own opportunity? If so, how did you go about doing it?

Do you think it is necessary to have some traditional genetic counseling experience in order to be taken seriously as a genetic counselor?


Filed under Allie Janson Hazell

GeeKnowType – The Unique Gene Boutique

“Know thyself,” said Socrates. We at GeeKnowType agree – everyone should have access to the personal knowledge hidden deep inside their DNA. But not everyone needs one of those pesky certified genetic “specialists” to guide them through the maze of genetic testing. Even if you don’t fully grasp the subtleties of germline mosaicism or imprinting, you have a fundamental right to learn self-evident truths about yourself.

GeeKnowType, the leading on-line gene boutique, will unlock the treasure chest of your DNA. Discover your innermost desires, dreams, and destinies – so secret that, until now, even you were unaware of them.

With its focus on nonsense mutations, our patented SybilChip® technology will help you realize your full genetic potential. Simply send us a small sample of your brain tissue*, which you can obtain on your own with our free easy to use home neurobiopsy kit. Your confidential genetic profile can be posted on your Facebook wall, im’d to your favorite chatroom, or downloaded to your smartphone.

Join the millions of others who have taken advantage of the latest discoveries in the science of human genetics to  improve their personal, social, and sexual lives with GeeKnowType – the DNA test for people who want to be in the know.

Here is a sample of some of our most popular personalized genomic products:

M-eye Color©: Everyone thinks your eyes are brown, but you swear they are hazel. Who’s right? Only your eye color genes know for sure.

SwitchHitter©: Am I right-handed or left-handed? Do I have situs inversus or just a poor sense of direction? With the powerful awareness of your genetic handedness, your cilia will always beat in the right direction.

MyGeneColor©: What is your favorite color? Cerulean? Or is it really a cool shade of pinky-purple? Busy people don’t have time to recall these details. No worry – MyGeneColor will find out for you. You will never again be at a loss, whether you are painting your walls or painting your nails.

RightWeigh©: Your scale says you are overweight, but you know you cannot weigh that much. In fact, research has shown that scales tell us more about our parentage than our eating habits. With your true genetic weight, you will no longer be a slave to unreliable scales that invariably add pounds to your real weight. Say good riddance to diet and exercise!

WhichWay©: Not sure if your sexual preference runs to men, women, or both? Ask your genes and they will tell. WARNING: Not recommended for members of the US Armed Forces.

GeneSequins©: How chic is your fashion sense? The Human Genome Project has proven that your Hip Quotient is genetically determined. Don’t fret about a thoroughly embarrassing surprise visit from Stacy and Clinton! We recommend that GeneSequins be run along with our RightWeigh and MyGeneColor products to give you a complete picture of your personal style.

WellRead©: How do you know which authors you like? More importantly, which ones do you actually understand? Should you be reading The New Yorker or People, James Bond or James Joyce?  Let us read your genes so you can read genetically appropriate literature – and save money on unnecessary magazine subscriptions.

MyType or WildType©: Fed up with online dating services that set you up with a string of losers? Our DNA matching service will help you find your genetic soulmate….Oh, wait, never mind. We will have to cancel this test. Some other company beat us to the punch on this one.

Don’t see a genetic test that meets your needs? Our specially trained staff will help you design a personalized genetic profile that will tell you anything that you want to hear.

* – Minors under the age of 18 – please check with your parents before sending in your brain sample.


Filed under Robert Resta

The Future is Here

The endless possibilities of genetics is oftentimes left to our imagination.

The media draws attention to genetic experiments they know will sparkle heated debates.  Don’t forget all the books and movies out there that portray genetics as something that will change the human race and will give us super powers.   There have been so many times where the public is exposed to a small area of genetics and the focus is somewhat on “….look at the cool stuff we can do….”

Anyone remember Dolly?

How about the mouse with a human ear on its back?

Don’t forget the glow-in-the-dark puppy.

The future is here, just in a different way than the media has been portraying over the years.  The future is here in terms of personalized genetics and taking charge of our health.

The public has reacted by fighting limits placed on DTC tests.  The public argue they are capable of interpreting, understanding, and making health decisions based upon their individual genetic information all on their own.   In other words, they are saying they don’t need genetic counselors.

The future is here and it could make or break the genetic counseling field.

NOW is the time for us to find our place.  NOW is the time for us to speak up and gain public recognition.  NOW is the time to show the importance of genetic counselors.  NOW is the time to make “genetic counselor” a household term.

1 Comment

Filed under Kelly Rogel

In Baseball as in Life, You Never Know

Sometimes the experts get it wrong. Just ask R. A. Dickey.

In 1996, Dickey was a first round pick of the Texas Rangers, with a signing bonus of $810,000 on the table. At 21, he was on the cover of Baseball America along with four other pitchers for the U.S. Olympic baseball team. It was a dream come true for an All-American boy from Tennessee.

Be careful what you wish for, kids!

R.A. Dickey, second from the left

The cover photo was seen by an orthopedist, who noticed something strange about the elbow of the young right hander. Alerted by the doctor, the Texas Rangers insisted on a medical exam. What they found stunned everyone: Dickey had no right ulnar collateral ligament. None. The main stabilizing force in the young man’s elbow simply didn’t exist. “The doctors said I shouldn’t have been able to turn a doorknob without feeling pain,” said Dickey. His ability to throw a pitch was a medical mystery.

Faster than you can say MRI, the $810,000 dollar offer was gone. The Rangers, convinced that he would never survive in the major leagues, reduced their offer to a consolation prize of $75,000. Dickey took the money, and proceeded on to the minor leagues where he pitched without pain, eventually switching to a knuckleball, which is to say that he is an enigma who tosses an enigma. On Wednesday May 19th, fourteen years after that magazine cover changed his life, Dickey took the mound for the N.Y. Mets (6 innings; 5 hits; 2 runs; no decision in a NY loss – not his fault. The Mets are a work in progress.).

Here’s my point: everything about Dickey’s career has confounded the experts. The baseball gurus said he would be a star; instead, he has been a journeyman pitcher, moving from club to club to find a job. The medical experts said he couldn’t possibly pitch; last year he played in 35 games for the Minnesota Twins. His first game with the Mets featured an inside the park homerun and a triple play, and still the strangest thing about the evening was R.A. Dickey, pitching in the major leagues at age 35.

As a genetic counselor, I thought a lot about his elbow watching that game (and as a Mets fan, believe me, it was a welcome distraction). How could all the medical experts be so wrong? At least in part, it’s because of that ascertainment issue: their experience was based on people who came to medical attention because they had pain. As a rule, we don’t test people without pain for missing elbow ligaments. Perhaps there are more R.A. Dickeys out there with no ulnar collateral ligaments, living their lives in ligament-less obscurity. We would never know.

But what if we did know? What if we knew when R.A. was 18, or 8, or 8 months old? What if we knew before he was born? That is the thing about making predictions; the only sure thing is that some of the time you will be wrong. “I’m sorry, Mr. and Mrs. Dickey,” we would say. “I understand that you love baseball, but the hard truth is that your son will never throw a ball or swing a bat. I know you may not be ready to hear this quite yet, but many of our parents report that their children very much enjoy soccer.”

OK, so it wouldn’t have been the end of the world. R.A. Dickey and I both know that baseball breaks your heart anyway, more often than not (shut up, Yankee fans). But it is a good story to remember, for those of us in the prediction-making racket. How many of you have seen patients that confound medical expectations? Perhaps you will share some of those stories here. It all goes to show you: sometimes you’re right, sometimes you’re wrong, and every once in a while, life throws you a knuckleball.

Lets Go Mets!


Filed under Laura Hercher

Whither GeneTests?

Well, it looks like it may be the end of the line for GeneTests, the widely used clinical genetics website. On March 18, NIH announced that it will develop the Genetic Testing Registry (GTR) “an online resource that will provide a centralized location for test developers and manufacturers to voluntarily submit test information such as indications for use, validity data, and evidence of the test’s usefulness” (this announcement was previously mentioned on the NSGC Public Policy blog). The registry will be under the purview of the Office of the Director of the NIH and hosted by the National Library of Medicine (NLM). Essentially, GTR will replace GeneTests. No timeline has been provided for when this transition will occur, but most likely will take place in 2011.

The driving forces behind GTR are NIH Director Francis Collins and his chief of staff Kathy Hudson, both of whom are well known and admired by the genetics community. GTR is still in the design phase but Hudson “hopes that it will be more comprehensive than GeneTests and more integrated into other NCBI resources.” The Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS)  recommended the creation of a mandatory genetic testing registry in 2008.  Although the initial plan was to make the registry mandatory, NIH ultimately decided it did not have the authority to do so. NIH plans a large overlap between GTR’s launch and the phasing out of GeneTests to minimize the impact on users. NIH will be requesting public suggestions about the development of GTR in the near future, although the GTR website currently allows input.

Dr. Bonnie Pagon, the director of GeneTests, and her staff were taken somewhat by surprise by the NIH announcement. So far, her detailed input into the development of GTR has not been sought.  The Clinic Directory and GeneReviews modules will not be part of the GTR. NIH claims that these modules will continue to be supported although no explicit plan has been made public.

GeneTests, funded primarily by NIH through the NLM, has served the clinical genetics community since 1993 (when it was called Helix and access was by telephone/fax inquiry!). Under the guidance of Dr. Pagon and a small band of dedicated genetic counselors and support staff, GeneTests has grown to include listings for tests for some 2000 genetic diseases offered by 600 laboratories, concise and highly readable summaries of more than 500 genetic conditions, patient resources, and the location of national and international genetics clinics. GeneTests greatest strengths are its ease of use, seamless interface of functions, highly readable clinical summaries, and a laser sharp focus on the clinical community. GeneTests has remained strictly non-profit –  laboratories and clinics do not pay fees to be listed nor are authors reimbursed for their contributions to GeneReviews. GeneTests is the single most valuable clinical website in the daily practice of genetic medicine, across the US and globally.

This is an opportunity for NIH to enhance an already excellent service, and I look forward to further improvements. On the other hand, there is the possibility of a disconnect between the vision of the NIH, a large governmental research institution, and the daily needs of the medical genetics community. For example, other NIH supported websites such as OMIM and Entrez Gene are fine resources, but have limited usefulness in the clinic, are sometimes awkward to use, and OMIM’s clinical summaries are clearly not up to the level of GeneReviews.

In order to make sure that GTR is a useful resource for clinicians and other users, I offer these suggestions:

• GTR should build upon the existing GeneTests base. It may need some tweaking, but it does not need to be deconstructed and reconstructed. GeneReviews and the Clinic Directory are critical components that should be maintained and updated primarily by the clinical genetics community. GeneTests strengths stem from the experience of astute clinicians like Dr. Pagon,  genetic counselor Cindy Dolan, MS, CGC, and others. I have deep respect for NIH staff, but the world view and needs of elite researchers will often differ from community medical providers.

• GTR should have an advisory board that includes several genetic counselors, medical geneticists, and other users from outside of NIH.

• The staff of GeneTests, with 17 years of experience, needs to be an integral part of the transition. Individual GeneTests staff may eventually choose other career paths, but NIH staff needs to be mentored by

these savvy veterans.

• Laboratories will be entering their own information into the registry. Such a system strikes me as ripe for potential abuse. If we have learned nothing else from the recent economic crisis, we at least must recognize that the foxes should not be feeding the hens.

• We genetic counselors and medical geneticists absolutely must provide input into the development of the GTR site and the maintenance of GeneReviews and the Clinic Directory. Although organizations like NSGC and ACMG can provide important policy input, this needs to be a grassroots effort by clinicians to make their needs known.

• NIH must be fully open to modifying its plans for these resources based on clinician input.

• NIH is planning a request for information from the public in the near future, but have asked that input be delayed until NIH provides specifics. However, I think we should begin to provide our input now so that we can help shape the questions and issues.

• The contributions of GeneTests to the development of GTR should be fully and clearly acknowledged.

GTR has the potential to be a helpful and useful resource for the genetics community and the public. But I am concerned that because the registry is such a huge undertaking, GeneReviews and the other components of GeneTests will take a backseat to the GTR, and may even fall by the wayside. This would be an enormous loss.

What are your thoughts?


Filed under Robert Resta

And the Birthday Giveaway Winner is…


Congratulations to commenter LC, who is the proud new owner of a set of Watson and Crick bobbleheads! LC, we will be in touch with you shortly with details.

Thank you to everyone for your ideas and warm wishes; your feedback is greatly appreciated. We will be sure to incorporate the topic suggestions into future blog posts. And if any potential guest bloggers out there want to take a suggested idea and run with it– by all means go for it!

Stay tuned for a fantastic new post…coming up soon.

Leave a comment

Filed under Administrative

Happy Birthday to The DNA Exchange!

Celebrating one year and 50,000 views with our first Giveaway!

The DNA Exchange is celebrating it’s one year blog-o-versary today!  In acknowledgment of the big day, we would like to thank our amazing readers and guest bloggers who have participated in our ongoing conversation on topics that affect genetic counselors and our patients.

To celebrate, for the next 72 hours any reader leaving a comment on this post will automatically be entered to win our DNA EXCHANGE birthday giveaway: a set of Watson and Crick bobblehead dolls. Yup, it’s true. Watson and Crick bobbleheads! Be the envy of your friends and co-workers!

To enter, just leave a comment below with your suggestions for future topics, an idea for the next snap poll or simply some feedback about our little blog, and you could be the proud owner of a pair Watson and Crick bobbleheads! A winner will be randomly chosen at 5pm EST on Friday, May 21. We will announce the winner first thing Monday morning.


Filed under Administrative

Genetic tests now sold in drugstores! Or not.

as posted on herNaturehisNurture

Well, it has been quite a week in the world of genetic testing! For those who haven’t been following the gene drama (or haven’t been able to keep up), I’ve provided a summary of the week’s events below.

Monday, May 10 Pathway Genomics’ test is considered a ‘device’ by FDA

The FDA Office of In Vitro Diagnostic Device Evaluation and Safety, sends a letter to James Plante, CEO of DTC company Pathway Genomics Corporation, pointing out that Pathway’s “Genetics Health Report” product appears to meet the definition of “device,” and therefore requires an FDA clearance/approval number. They request that their approval number be provided. [Of note, Pathway DTC genomic testing has been available online since July 2009].

Tuesday, May 11 Washington Post runs story about gene tests being sold in drugstores

The Washington post runs the story that personal genomic testing company Pathway Genomics was getting set to offer their genetic testing kits at Walgreen drugstores across the country.

Beginning Friday, shoppers in search of toothpaste, deodorant and laxatives at more than 6,000 drugstores across the nation will be able to pick up something new: a test to scan their genes for a propensity for Alzheimer’s disease, breast cancer, diabetes and other ailments.

The NSGC promptly responds, issuing this Policy Statement (pdf):

“Distributing genetic testing through pharmacies will expose more people to its availability. However, people should first meet with a genetic counselor to determine whether genetic testing is right for them and to prepare for what they might learn,” said Elizabeth Kearney, NSGC’s president.

Daniel Vorhaus of the Genomics Law Report was quick to comment on the news, and published an impressive compilation of media and blogger reactions to the developing story.

Wednesday, May 12 Walgreens revokes decision to sell Pathway’s test in stores

Media outlets continue to follow the story, and FDA officials become increasingly vocal about their lack of support for the retail genetic test kit. Late Wednesday night, news breaks that Walgreens has decided they are revoking their decision to stock the genetic testing kits in stores.

In a statement, Michael Polzin, a Walgreen spokesman said, “in light of the FDA contacting Pathway Genomics about its genetic test kit and anticipated ongoing discussions between the two parties, we’ve elected not to move forward with offering the Pathway product to our customers until we have further clarity on this matter.”

Thursday, May 13 Pathway Genomics and others respond

Pathway Genomics issues a press statement acknowledging the weeks events and the genetic counselling services they provide:

We respect and understand Walgreens’ decision and we are communicating with the FDA about the Pathway Genomics InsightTM collection kit…We believe it is very important that anyone interested in a personal genetic test understand the information that will be contained in his or her report. That is why we have on staff Board certified/eligible physicians and genetic counselors that are available to speak with customers about their reports. We also encourage anyone considering purchasing a Pathway product to speak with our counselors.

Others continue to weigh in on the issue. Notably, Dan Vorhaus helps elucidate some of the complex issues surrounding regulation of direct-to-consumer gene testing and points out that personal genome tests are already available through retail outlets, such as 23andMe tests being sold through Amazon.com. The NSGC public policy blog provides a good summary of the issue from a genetic counselor perspective.

Friday, May 14

So here we are, Friday morning, the day that Pathway’s tests were scheduled to hit drugstore shelves. But instead of curious consumers flocking (or not flocking) to their local Walgreens, we are instead right back in the middle of a DTC regulation debate. A debate that seems to me to be incredibly reminiscent of June 2008, when the California department of Public Health issued “cease and desist” orders against 13 DTC companies. I look forward to watching how this plays out.


Beyond the actual events of this week, what has been so incredible to me is the quick response and coverage of this story within the genetic counseling community. Because I don’t work in a position where I can monitor twitter, I have relied heavily on the NSGC listserv this week in keeping up on the breaking news. So a big thank you to all those who kept the community up-to-date using this private forum. And I’m impressed with the speed at which the NSGC position statement and public policy blog post were put together. If this same situation had occurred a year ago, I highly doubt the public response from the GC community would not have been so urgent or visible.

1 Comment

Filed under Allie Janson Hazell

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.


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.


Filed under Guest Blogger