Tag Archives: Genetic counseling

Don’t Look Now

At the bus stop the other day I saw a young man who had no nose. No proboscis, no nasal hypoplasia, no midline facial cleft, no Voldemort nasal slits. Just a deep hole, the circumference of a quarter, in the center of his face. The shock was heightened by encountering him in the clear daylight of a beautiful afternoon, outside of the normalizing context of a genetics clinic.

My mind sorted through possible etiologies. A freebasing accident gone horrifically wrong? A congenital anomaly syndrome whose name was lost in the cobwebs of my brain? A developmental process gone awry? The product of a new teratogen? An extreme case of self-mutilating psychopathology?

My fellow commuters in waiting were either staring directly at him, or, like me, struggling to disguise our rudeness by trying to simultaneously gaze at and just past him. I rationalized my behavior by telling myself that I was doing what any reasonable geneticist would do – trying to fit him into a Dave Smith pigeonhole. But, truth be told, I was gawking at him.

Name That Syndrome. It is a game that geneticists often play when we have the opportunity to observe the parade of humanity in all of its terribly wonderful variety. That exotically gorgeous woman with the ice blue eyes and gray forelock sitting at the bar? I bet she has Waardenburg syndrome. That overly friendly young boy with the starburst iris trying to make friends with every angry airline passenger aggravated by the flight delay? Only a kid with Williams syndrome could have that much faith in the goodness of humanity. That overweight blind child with post axial polydactyly clinging to her bedraggled mother, the weary pair standing on a rush hour bus because nobody had the decency to offer them a seat? I hope her pediatrician had the savvy to diagnose Bardet-Biedl syndrome. And that guy waiting to board the plane who has wide-set eyes, a depressed nasal bridge, a smooth philtrum, and mild syndactyly – he must have something. I wonder if the airport’s facial recognition security software has Gorlin’s Syndromes of the Head and Neck programmed into it?

Context matters. Within the confines of the clinic, it is entirely appropriate for a genetic professional to intensely examine every square centimeter of a patient’s body. But once we step out of the front doors of our medical towers and into the streets, we lose the mantle of medical authority that grants us the social privilege of staring closely at other human beings to look for differences subtle and profound that stray from the norm (of course, variation is the norm).

Separation of personal and professional life is a complex, challenging, and ongoing process. We often have a hard time finding the Off button for our clinical instincts. Like clerics and cops, geneticists can feel like they are never off duty. I struggle with this nearly every day, dancing a tango where I am vying with myself for the lead.

I do my best to justify the social crassness of Name That Syndrome by re-framing it as clinical curiosity.  But it’s not polite to stare; Mom is right once again. On the streets they are not clinical puzzles. They are people with beating hearts who are trying to scratch out a decent life in a hard world. They deserve respect and dignity, not freak stares. If we lose sight of this, we become poorer clinicians and lesser people.

4 Comments

Filed under Robert Resta

Guest Post: Genetic Counseling Is Like A Soap Opera, by Laila Rhee Morris

Laila Rhee Morris is a genetic counselor in California. She graduated from the Sarah Lawrence College training program in 1992. She loves children, animals, trivia and recycling. Her interests include movies, TV and books that feature genetics.

You could say that I became interested in genetics, healthcare, and soap operas simultaneously. When I was in the 7th grade, I contracted mononucleosis, “the kissing disease,” although, at that point, I was not kissing anyone except the family pets. The fact that a virus was making my white blood cells multiply wildly seems to have sparked my first curiosity about genetics. Mononucleosis completely exhausted me, and my mother mercifully relaxed her 10 hours per week TV rule, which is how I became addicted to soap operas.

After 22 years I find that my genetic counseling sessions can resemble a soap opera. The messy human drama  – and sometimes comedy) – plays out in the sessions, hospital rooms, and can even spill over into waiting rooms. But all this is not for my amusement; my job is to help people pick up the pieces of their lives.

I love to tell people that I once wrote a genetic counseling story-line for a soap opera. About 20 years ago, the producers of the soap opera Loving (ABC TV: 1983-1995) called the clinic in New York where I was working to request the help of a genetic counselor to devise a plot-line whereby their star actress, Susan Keith, could have a pregnancy with an unclear ultrasound finding. I excitedly volunteered right away, correctly guessing that my supervisor, Nancy Zellers, would be too busy to take on this task.

I felt vindicated that all those hours that I spent watching were not a waste and I felt as if, finally, these TV people had come to me to develop a decent dramatic story with a foothold in the real world of genetics. The guidelines were that the character had to have prenatal ultrasound finding where the baby could be normal or could have problems after birth. Susan Keith* played Shana Sloane Vocheck Burnell; she was a pretty actress with mountains of red hair. Somewhere in my devious mind or maybe from an actual case, I decided that Shana should have a prenatal ultrasound that detected agenesis of the corpus callosum (ACC) in the fetus.

Shana went for her ultrasound probably expecting everything to be normal, as most real patients do, and thinking that the only point to this ultrasound exam would be to determine whether she was having a girl or a boy. After the ACC diagnosis, the writers had Shana meet with a genetic counselor. Gasp. Can you think of a single TV show or movie where there has been a genetic counselor character?

The genetic counselor character was featured for one day. The producers made it a point to tell me that they even went to the expense to fly out a veteran (show business speak for “older”) actress from Los Angeles to play the role of the genetic counselor (GC). Oh my, the scene with the genetic counselor was just awful. I did not think to record it and thus nothing is left of my masterpiece.

On the positive side, the actress did look like a GC or at least those that I had encountered up to that point during my training. She was an older, kindly appearing Caucasian woman. My cringe worthy moments started the minute that she opened her mouth and introduced herself as “a genetics counselor,” with the “S.”** Then, she ushered Shana and her partner to her office and sat behind a mahogany desk to deliver the bad news. As Shana sobbed and dropped the entire contents of her purse on the ground, the GC excused herself to go take care of something more important in another room. The GC didn’t even offer poor Shana a tissue as Shana was crouching on the carpet in a puddle of tears. On Loving, Shana’s ACC story line went on and on, drawn out for more weeks than a real pregnancy lasts, until Shana eventually delivered an apparently healthy baby girl.

I also want to point out that the soap operas can be educational. They were some great genetic storylines. The 1980 General Hospital paternity storyline involving the Bombay blood phenotype is featured on an NIH website and on YouTube.

After moving away from New York city 20 years ago, I have no time to watch TV and most of the soap operas have been cancelled. Sadly, my soap opera days seem to be behind me but isn’t being let into our patients’ complicated lives (and helping them) the ultimate human drama?

 

*A different Loving clip featuring Susan Keith can be found on youtube.com at http://www.youtube.com/watch?v=_Iy45gvOXlY Interestingly, this clip features Susan Keith smooching with her real life husband, James Kiberd

** There are some people (Bob Resta is one) who like the “S” in genetics counselor because it sounds as if we are counseling about the field of genetics. I know that it is not an apostrophe “S” but my opinion is that genetics with the S is a tongue twister and makes me sound like a Castilian Spanish aristocrat. I am certain that the original Loving script reflected my preference: the without the “S” variation.

3 Comments

Filed under Guest Blogger

A Mixed Verdict

A recent $50 million dollar jury verdict in a “wrongful birth” lawsuit in the Seattle area* has caught the attention of genetic counselors, hospitals, patient advocates, and legal experts. The ruling in this case may have both positive and negative implications for the genetic counseling profession. Let me be clear up front – I am not passing judgement on the verdict, the medical providers, the parents, the quality of care, or the laboratory. This case is very complicated and no doubt many details were not publicly reported. Although I know some of the parties involved, I was not directly connected to the case and I have no insider knowledge. Indeed, I did not know about the case until it hit the news.

In 2007 a woman underwent chorionic villus sampling (CVS) because her husband was a known carrier of a very subtle 2;9 translocation. The institution where the procedure had been performed had no genetic counselor working on the day the CVS was performed, contrary to departmental guidelines for complex cases. Somehow the details of the translocation were not clearly communicated to the cytogenetics laboratory. The fetus had an unbalanced translocation that was erroneously reported out as a normal karyotype. The couple continued the pregnancy to term and the misdiagnosis was detected after the child was born. In 2010 the couple sued the hospital, the laboratory, and the physician who performed the CVS. The physician and the plaintiffs entered into a “High/Low” agreement  in which the defendant agrees to pay a minimum recovery in return for the plaintiff’s agreement to accept a maximum amount regardless of the outcome of the trial. The medical center and the laboratory  were held equally responsible for the $50 million payout, with half the money going to a Guardian ad Litem for the child to pay for his medical care and other expenses and half going to the parents.

The core argument of the plaintiff’s lawyer was that the error would likely have been prevented if a genetic counselor had overseen the patient’s prenatal testing to assure that the critical information about the translocation was clearly communicated to the laboratory. The medical center had reduced the genetic counseling staff despite pleas from the maternal fetal medicine specialists and in the face of growing patient volumes and increasing net revenue. Lawyers for the plaintiff further claimed that the medical center and laboratory did not follow Error Prevention and Quality Management Policies and that the misdiagnosis was the result of a systemic failure. These arguments were important to the extraordinarily large size of the award; the missed diagnosis was attributed to “true negligence” rather than a one-time human error.

The outcome of this case can be beneficial in several ways for the genetic counseling profession. The jury acknowledged the critical role that genetic counselors serve in the delivery of medical care. For genetic counselors trying to justify their positions and salaries can now also argue that their institution’s legal vulnerability can be dramatically reduced by having an adequately staffed genetic counseling service. After all, genetic counselors’ salaries are a pittance in the overall hospital budget and pale in the face of multi-million dollar legal damages. Genetic counselors served as expert witnesses for both the plaintiffs and the defendants, further enhancing the profession’s status.

On the other hand, the verdict did little to improve the rocky and complicated relationship between genetic counselors and people with disabilities, their families, and their advocates. From the perspective of many in this group, prenatal diagnosis and selective termination are bright shining examples of society’s intolerance of people with disabilities. Because genetic counselors are integral to the delivery of prenatal diagnosis services, we are criticized for being part of a larger social and systemic bias.

Genetic counselors counter that they do not direct patient’s decisions, only support them. Genetic counselors are all too familiar with the gut-wrenching, emotionally draining process that patients go through when they decide to terminate or continue a pregnancy in which the fetus has a chromosomal imbalance. And in many situations, genetic counselors serve as advocates for people with disabilities and their families. But this defense does not hold water with those who argue that the very existence of prenatal screening is an insult to people with disabilities who, after all, do not see much in direct benefit from NIPS, amniocentesis, CVS, etc. What positive message can someone with disabilities find when half of the fifty million dollar award was for pain and suffering of the parents, and the very justification of the life of someone with disabilities is called into question when he or she is labeled “a wrongful birth?”

For now, we live in a society where women have the hard-earned right to terminate a pregnancy for whatever reason they choose (although the ability to act on that right can be severely hampered by socio-economic status and governmental policies). Genetic counselors line up behind the defense that they nondirectively help women to act on this reproductive freedom. Disability advocates are often avid supporters of reproductive rights too but do not feel that prenatal testing is necessary to the expression of reproductive freedom and point out that society’s negative view of disabilities and unwillingness to allocate appropriate resources further worsens the effects of disabilities. The two sides seem to be at an impasse and the fact that genetic counselors might applaud this court’s decision may only further contribute to this impasse.

We cannot ignore the voice of our critics.  I am not sure what the solution is. Prenatal diagnosis is unlikely to go away unless abortion becomes illegal again. If genetic counselors suddenly decided to pull out of prenatal diagnosis services, I suspect that informed patient decision-making would deteriorate and people with disabilities would lose one of their few potential advocates in the prenatal system.

As a profession and as individuals we need to reach out to our critics and find some common ground, such as the recently developed Open Lines forum where disability scholars, genetic counselors, parents, and people with disabilities can openly and safely discuss their perspectives. Surely the two sides are not as dysfunctional as the US Congress. It will be painful and difficult, but great achievements often require great suffering.

* – King County (Washington) Superior Court Case # 10-2-43289-2, Judgment Record # 13-9-35173-6 & 13-9-33521-8

Note: Some of the information in this posting is based on an article written by the plaintiffs’ lawyer (Gardner T, “Significant verdict in wrongful birth suit” Trial News, January 2014, pp. 9-11).

2 Comments

Filed under Robert Resta

TMI?

Genetic testing for single disorders is rapidly going the way of yogh (Ȝ), eth (ð), and thorn *(Þ), those Old English fossil letters of the alphabet. With the advent of massively parallel sequencing and other new testing technologies, multi-gene panels are the wave of the immediate future. Some labs offer testing for 1700 genetic diseases on a single saliva sample. Single gene tests will soon seem as quaintly ancient as The Canterbury Tales.

The eye-blink rapidity of the evolution of genetic testing has made this an exciting time to be a genetic counselor. There is much to be said about multi-gene panels and the technological, scientific, clinical, ethical, and social issues that they raise. Here I want to share a recent experience with a hereditary cancer risk gene panel that made me think about some less discussed issues stemming from gene panels – Will patients  be able to understand this Midas-like wealth of genetic information, integrate it into their health care, and share it with their families? How adequate are current counseling strategies to deal with this complexity? 

My bright and educated patient had been diagnosed with young onset breast cancer, as had several of her first degree relatives.** One of these relatives previously had normal BRCA analysis. No other relatives had been diagnosed with cancer. A multi-gene panel indicated that my patient carried two pathogenic mutations, one in BRCA1 and the other in MUTYH. On the surface, this is not too complicated – a dominant mutation (BRCA) and a recessive condition (MUTYH polyposis) within one sibship, something that a first year genetic counseling student would be able to think through without much difficulty.

Simple. Or so it seemed until the discussion quickly became complex when I started switching back and forth between dominant and recessive inheritance and the different risks to siblings, nieces, and nephews; the need to test the patient’s spouse and potentially her siblings’ spouses for MUTYH mutations; and what further hereditary breast cancer genetic testing might be worth considering for the affected sibling who previously had normal BRCA analysis. It was like trying to focus on two different radio stations that were playing different songs simultaneously.

When a test result indicates a pathogenic mutation, I provide a detailed letter to the patient that serves as a guide to clinical management and to review the implications for the patient’s family. My first go-round with writing the letter for this double mutation patient was a 7 page affair that left my head aching. I eventually settled for two 3+ pages letters, one for each condition, but it still felt unsatisfactory to me. The follow-up took several sessions, a large chunk of administrative time, and multiple phone calls. Because some relatives do not live in the immediate area, it will be difficult to know how well this information will be communicated to the rest of the family.

Think of those female family members who may wind up testing positive for the BRCA1 mutation and carrying two MUTYH mutations. Will they have the drive to undergo annual colonoscopy, annual mammography, annual MRI, monthly self-breast exams, semi-annual physical breast exams, and whatever other screening we might suggest? Or elect to have risk-reducing salpingo-oophorectomy, prophylactic mastectomy, and, if they have a high polyp burden, prophylactic colectomy? That is asking a lot of someone, to say the least. Many patients will follow screening recommendations initially but after five or so years may begin to fall off in their compliance if the demands are too great.

And that is just for a small gene panel. No doubt we will encounter multiplex mutation patients who carry more than just two high risk genetic markers as routine whole genome/exome sequencing comes closer to reality. We cannot expect patients to regularly consult their genomes on a daily or weekly basis, like a genetic I Ching, to guide their life choices.  I suspect what may happen is that patients will focus on a few aspects of one or two diseases depending on their particular circumstances and experiences, and let the rest fall by the wayside. I not uncommonly encounter BRCA positive patients who say “Well I don’t have to worry about ovarian cancer because there is only breast cancer in my family, so there is no need for me to have my ovaries removed.” Even for the most medically sophisticated, highly motivated, and well-educated patients, there is a limit to how much information they can process and act on.

Then there are the possible psychosocial implications and narcissistic threats engendered by carrying not just one but multiple gene mutations, and the familial issues as increasingly complicated information is transmitted across the kinship network. With no family history of colon cancer, the MUTYH results came out of the blue and added another level of psychological complexity by raising concerns about a cancer that had not been part of the family’s prior medical landscape.

Some labs provide excellent educational materials, far better than what most counselors can put together with their limited time and resources. However, these pamphlets and online materials are geared toward explaining a single disorder within a family, not with providing a comprehensive narrative that interweaves the implications of multiple hereditary conditions. We need to develop  better counseling and education techniques to allow patients to effectively utilize complex genetic information and to help patients adhere to a screening strategy with as few financial, practical, scheduling, and emotional barriers as possible. Genetic testing may become relatively inexpensive and widely available, but the social and ancillary medical costs may be where the real expense lies . And that is not even considering the massive problem of maintaining properly curated databases to track, study, and communicate information about variants of uncertain significance.

To some extent, the situation may be analogous to PKU. As thoughtfully discussed in The PKU Paradox by Diane Paul and Jeffrey Brosco, PKU is typically described as a straight-forward mendelian recessive disease that has a remarkably effective simple intervention. PKU has had its share of astonishing success that has provided moral capital for justifying all kinds of genetic testing. Hundreds of millions of babies have been screened for PKU.  However the clinical, ethical, resource utilization, and social issues engendered by PKU screening are anything but simple, far from being resolved, and we are still uncomfortable acknowledging them. And that is for just one relatively uncommon genetic disease. Those problems will be magnified as we test for many conditions, some of which are not so rare.

PKU Cover

Am I sounding an alarm over a non-issue? What are the thoughts  and ideas of our DNA Ex readers?

* – A little bit of language trivia for the curious reader: The letter thorn (Þ), which represents the phoneme “th” (/θ/) as in “there,” survives in modern English in a peculiar role in the names of certain businesses like Ye Olde Clothing Shoppe or Ye Dragon’s Den. The Y in “Ye” is derived from the Early Modern English version of thorn, which was indistinguishable from the letter Y. “Ye” in these names is a modern cutesy way of spelling “The” and “Ye” should be properly pronounced “the” rather than “yee.”

**- Clinical details have been changed to maintain confidentiality.

2 Comments

Filed under Robert Resta

Metaphorically Speaking

With more than 30 years of experience, my tenure as a genetic counselor is roughly equal to the age of  the average practicing genetic counselor. It is no exaggeration to say that I entered the field when many of today’s genetic counselors were still zygotes. A few years ago I ran into a patient whom I had counseled during her pregnancy 27 years ago who proudly informed me that the daughter she was pregnant with back then is now a genetic counselor.

Truth be told, I have reached  a point in my career where I question my relevance to the genetic counseling profession. I worry that the issues that concern and stimulate me are irrelevant to the current and future practice of genetic counseling, that I am stuck in a professional time warp where I am fighting yesterday’s battles and fretting about irrelevant ethical and clinical dilemmas. Maybe my work here is done.

Even more concerning is the possibility that younger patients may think that I cannot possibly understand their problems. They are at vastly different points in their life cycles than I. There is little overlap between our cultural reference points and we likely have distinctly different comfort levels with the technological advances of the last 3 decades. Who wants to be counseled by their father?

Photo courtesy of Lizzie Resta

Phone

VHS Tapes For VCR

When I first started out as a counselor, I fretted that I was so much younger than my patients that they would not take me seriously. Now I struggle with how to relate to a 30-year-old female BRCA mutation carrier trying to decide whether she should tell her fiancé about her carrier status, and if should she have a prophylactic mastectomy, which in her mind might render her an “unfit” mother because she would not be able to breast feed. My insecurity has come full circle. Sure, good counseling skills should make those differences irrelevant, but still…..

The potential generation gap between me and my younger patients surfaced recently when I met with a woman whom I had initially met with in the 1990s when she was pregnant and amniocentesis had revealed an apparently balanced de novo translocation.* Because of our past experience together she requested to meet with me again because of her subsequent personal and family history of cancer.

Before we started addressing her current situation she told me that she wanted to let me know how much she had appreciated the counseling I had provided during her pregnancy nearly two decades ago. What she had found particularly helpful was a metaphor I had used to help her grasp the concept of translocations. “Bob, you described chromosomes as essentially being a set of encyclopedias, genes were the words in the encyclopedias, and DNA was the alphabet used to spell the words. A balanced translocation was like a few chapters from Volume 10 had broken off and joined Volume 4, and vice versa. You couldn’t say for sure if a few words or letters were lost as a result of the translocation, but as far as the lab could tell, the encyclopedia had all of the necessary information, just rearranged. The light bulb went on in my head, and I was able to make a decision to continue that pregnancy.” I am not claiming that I broke new counseling ground with this explanation; I suspect that many genetic counselors use some version of it.

She continued “My husband and I liked that imagery so much that we used it when we finally decided to tell our teenage son about his translocation.” After they broke the news to their son about his genomic constitution, the patient said that her son silently contemplated what he had just been told. The parents held their collective breath, anticipating a complicated genetics question or a deep emotional response. Finally, he looked up and asked “An encyclopedia – is that anything like Wikipedia?”

Well, I thought, I wasn’t just being paranoid about my relevance to genetic counseling. Even my Genetics-To-English Dictionary is obsolete. I really do need to think about packing it in as a counselor and taking an administrative position with no patient contact.

Rare First Edition of the Genetics To English Dictionary

After I recovered from that shock, I got to thinking more clearly about their son’s statement. Hey, I thought, maybe I could update my Genetics-To-English Dictionary and appropriate the Wikipedia metaphor to my current work in hereditary cancer. Wikipedia is essentially the genome. It contains a lot of information, but some of that information is inaccurate and needs to be corrected and updated, much as DNA can acquire mutations and needs to be repaired. Mismatch repair proteins, the culprits in Lynch syndrome, are like the anonymous editors who vigilantly proofread Wikipedia, reporting and correcting typos to restore the integrity of the information. When the mismatch repair protein genes are mutated, the proofreaders are less accurate, DNA damage accumulates in the cell and eventually leads to cancer. In Lynch syndrome, the proofreader has a hereditary dyslexia.

Perhaps there still is some hope for me as a genetic counselor. But first I have to figure out how to stop my stupidphone from making that awful chirping sound. At precisely 3:12. AM. Every morning.

* – Some clinical details of this scenario have been changed to maintain confidentiality.

7 Comments

Filed under Robert Resta

Guest Post: Adrienne Asch – Reflections from a Genetic Counselor

by Katie Stoll

Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetic counseling.

We recently said good-bye to Adrienne Asch, a thoughtful and powerful voice in bioethics, disability, and reproductive rights. Adrienne passed away at her home in New York on November 19, 2013, surrounded by the love of many friends and family.

Adrienne touched my life deeply in the brief time I knew her and I am grateful to have had a connection with her. Her perspective has significantly shaped the way I view the genetic counseling profession and my role within it.

Adrienne was an accomplished scholar and an incredible person. Several beautiful tributes speak of character and her accomplishments, and these only give us a glimpse of her impressive body of work. See the The New York Times, as well as blogs related to philosophy, feminism, and bioethics for more about Adrienne.

Many genetic counselors are aware of Adrienne’s focus on the intersection of disability rights with reproductive technologies.   She was supportive of abortion rights, but questioned the implications of prenatal diagnosis and selection for disability rights, for individual parent expectations, and for humanity. She asked the question, if individuals with disabilities are not welcomed into family life, how can we expect inclusion in schools, in the work place, in society?

In her scholarly work, Adrienne spoke frequently about the parent-child relationship, and I had often wondered about her personal experiences as a child in this relationship. I came across the transcript of a fantastic interview with Adrienne conducted by Anna Kirkland at the University of Michigan, in 2006. I was delighted to find these insights into Adrienne’s own family life and it is heartening to realize that Adrienne’s views on this topic were in part shaped by her own childhood experiences of being supported to be true to herself:

“My parents taught me to think for myself and to be comfortable with who I was, even if people around me weren’t entirely comfortable with who I was either as a leftwing type or somebody who loved classical music, or someone who was Jewish, or someone who was blind. So they just taught me to be myself.” 

At one point the interviewer asking Adrienne if she had ever had the opportunity to address genetic counseling students. Adrienne has been an outspoken critic of prenatal diagnosis and this has made her quite a controversial figure among genetic counselors.

Anna: I’d be interested to know, have you ever had the opportunity to address a group of genetic counseling students or…or… 

Adrienne:  Yes. I have. 

Anna: Yeah. How did that go? 

Adrienne:  Not well. 

Anna: [laughs] What [laughs]…what did you say to them? 

Adrienne:  The same kind of thing I’m saying to you. But it challenges…I mean, maybe that I haven’t said it gently and kindly enough and I’m trying to do that. I have sympathy for how difficult it is to do this work. But I have no sympathy for people telling me that parents aren’t interested in this information or it’s not appropriate to give them the kinds of information that I’m describing. I think in fact that’s what genuine information is.

Recently, I had a chance to work closely with Adrienne when she helped to conceptualize a symposium for the National Society of Genetic Counselors Annual Education Conference, Reaching for Common Ground: Prenatal Genetic Counseling and Disability Equality. Although  Adrienne’s health prevented her from traveling to Los Angeles for the meeting, she was determined to hear all of the presentations live and to participate in the conversation. We achieved this through the technological miracles of cell phones, speakers and microphones for the entire 6 hour conference and this allowed her to both listen and contribute to the conversation.

In early October, she recorded a video for this conference and the National Society of Genetic Counselors has kindly allowed me to share it here. I encourage you all to take the time to listen to Adrienne’s final address to genetic counselors. I think she finds the balance she was striving for in being sympathetic to the difficulties inherent in the work of genetic counseling and remaining strong in her challenge to our profession to be more than genetic educators.

In genetic counseling, you have an enormously important role to play in helping prospective parents’ to think about the meaning for themselves of the genetic impairments or prenatally diagnosable impairments that they might discover in a fetus or an embryo.   And the role that you have to play is not genetics education alone.  It is genuine counseling.  It is counseling with a genetic component.  But it is dialogic counseling.  It is not merely reciting facts about laws and services and family support for people with Down syndrome.  It’s not reciting how wonderful it is and how loving the children are…It’s not reciting how terrible it is and how bad group homes might be.  It’s asking parents to think about the goals they have for their family life and how a child with characteristics that they can know in advanced will affect the achievement of those goals… The other reason you have a big job is that you are not given much time in which to do it. And all of the institutional forces work against that kind of conversation.  But I am urging that genetic counselors take their respective places as counselors to really help prospective parents think through what they want for their family life.  How a particular characteristic or impairment will affect that…

…Just as life is made up of many experiences that are shareable, you don’t need to have particular characteristics in common to share a life and to share experiences.  And you as a genetic counselor have an opportunity to communicate that to prospective parents. And ask prospective parents to think about what they want in their family’s lives.  And whether a child with a particular characteristic you can name in advanced will make the achievement of those goals any harder or any less possible. 

That’s a job of real counseling.  It’s not a job of imposing your values.  It can be as nondirective as you like but it is a job of asking questions maybe questions parents don’t want to be asked but that’s often true of any counseling.  No therapist worth his or her salt merely smiles and nods and says, “Ahah!”, and says, “I see what you mean”.  Therapy and counseling are about asking people to reflect and think twice or three times about the views and the values they are bringing to their lives.  You don’t have three years or 3 months or sometimes even 3 weeks to do that with the people in front of you.  But in the 45 minutes to an hour that you have, or if you’re lucky, more than that, you have a chance to communicate the joys of parenthood, the problems of parenthood, and the ways in which a child with any set of characteristics may or may not fulfill the goals that a parent has.”

Part of our fundamental core professional values as genetic counselors is to be non-directive in our counseling – not to decide the morally ‘right’ path for pour patients. We strive to support individuals to choose the path that they decide is right for them. Our responsibility as genetic counselors is to do our best to make certain that the decisions people make are as informed as possible.

What Adrienne helped to crystallize for me is that part of ensuring informed decisions requires inquiry into of the prospective parent’s expectations, hopes and dreams. It may also call for us to challenge misconceptions about how life with a disability is imagined and this may need to begin first with examining our own misconceptions and biases.

Adrienne certainly dismantled my preconceptions about life and limitations for someone who has been blind since shortly after birth. Although too short, her life was undeniably rich and full and her contributions were many. I imagine there are many DNA Exchange readers who have some interesting reflections about Adrienne of their own. I hope you will share them here.

2 Comments

Filed under Guest Blogger

Caught In The Act

I keep a bowl of chocolates on a table situated between the two chairs that accommodate patients in my office. It is a simple gesture, a small attempt at creating a friendlier environment for conducting the sometimes scary business of genetic counseling. I spread enough bad jujus as part and parcel of my work; I can try to do a little something to offset the negative karma. And it is decent chocolate, not Halloween rejects or forgotten treats that have been lurking in the back of the snack cupboard since the Clinton administration.

Although my chocolate stash has not provided great insight into the psychological complexity of genetic counseling, it has been a surprising and at times amusing source of insight into human behavior on a micro-scale. As they used to say on the old Candid Camera television show, I catch people in the act of being themselves.

Guys, for the most part, walk in, see the chocolate, and say “Hey, great, chocolate!” and then unabashedly help themselves to a few pieces. Many women, however, tend to have a more complicated relationship with chocolate. Here I share a few examples that illustrate this tangled web.

Maybe He Won’t See Me: This is the most common scenario. They want chocolate but do not want to be “caught” eating in front of me, as if somehow it violated social norms or might shape my opinion of them. As we engage in the counseling process, their eyes involuntarily sneak sideways glances at the bowl, the siren call of the miraculously transformed pods of Theobroma cacao too alluring to resist (One patient actually begged a là Odysseus “Please, before I eat it all, tie my hands to the arms of this chair.”). They can get wily too, waiting for an opportunity that distracts my attention, such as when I turn my back to them to complete a test request form or leave the room to photocopy some paperwork, and then sneak a piece or three. Either they quickly unwrap and eat it, hoping that I did not detect the maneuver, or sequester their pilfered pleasure into their purses. If I happen to notice their covert actions, they voluntarily offer an explanation along the lines of “Oh, I just wanted to bring home a piece for my son. He really likes chocolate.” What, like your kid expects a treat every time his mother has a doctor’s appointment?

Get It Away From Me:  Here will power is a serious problem. They sit down and unthinkingly pluck pieces out of the bowl without ever taking their eyes off of me, their uncannily accurate radar guiding them to their personal dark or milk chocolate preference. After a few minutes they realize that they have worked their way through four or five pieces and plead “Please, take this away and hide it in a drawer.” It reminds me of the slyly clever Cookies episode from Arnold Lobel’s delightful Frog and Toad children’s books.

Oh Heck, Why Not?: Like good Christians shunning Satan’s temptations, these patients nobly avoid the chocolate for the duration of the session. But as they prepare to leave, they steal a longing glance at the bowl, torn between desire and decorum. I usually suggest that they take a piece to reward themselves after an emotionally exhausting counseling session or to recover from the physical trauma of their upcoming blood draw. “Oh, I shouldn’t ….. well, alright. I guess I can have one piece since I didn’t get chocolate syrup drizzled on the whip cream on my morning mocha. I will save it for after lunch.” Perhaps in the complicated calculus of calories and diets chocolate has fewer calories after lunch or the mocha counts as Morning Calories and the chocolate as Afternoon Calories.

Calories and Insulin: These patients first pass the chocolate under their noses before popping it into their mouths, like an oenophile sniffing a Premier cru Bordeaux. They savor the pleasure of the silky sweet sensation on their tongues and palates, torn between swallowing and lingering on the moment and sometimes emit a quietly restrained orgasmic “Mmmm.” Then I think back to my review of their medical records and recall multiple appointments at the Diabetes Wellness Program or the Weight Control Clinic, and I feel like a bad clinician who should have planned more carefully for the needs of my patients.

The No Holds Barred Chocolate Addict: Social etiquette is quickly abandoned as these patients unselfconsciously dig into the bowl like Hansel and Gretel in the witch’s cottage. They think nothing of emptying the bowl and leaving only the crumpled wrappings, making it look as if a swarm of locusts had descended on my office. A patient once asked “Do you have any more dark chocolate? My sister just ate the last piece, and I really don’t care for milk chocolate.”

Should Seymour Kessler or Jon Weil reads this piece, no doubt he will roll his eyes and think “For crissakes, Bob, didn’t you learn anything from my teachings? You need to be attending to the profound psychosocial aspects of genetic counseling and the alleviation of human suffering.” Well, Jon and Seymour, I do strive to be a serious and insightful counselor. But sometimes patients – and I – need a piece of chocolate too.

3 Comments

Filed under Robert Resta

Albatross

Ah! well a-day! what evil looks
Had I from old and young!
Instead of the cross, the Albatross

About my neck was hung.

And till my ghastly tale is told,

This heart within me burns

He went like one that hath been stunned,
And is of sense forlorn:
A sadder and a wiser man,

He rose the morrow morn.

- Excerpts from The Rime of The Ancient Mariner, by Samuel Taylor Coleridge

Eugenics. I can hear the thud as the collective eyes of genetic counselors roll heavily at the mention of the E-word.  That finger has been wagged in our faces ad infinitum. Alright already, we have learned our lesson from this shameful past. That was like more than half a century ago. Do we have to still keep apologizing for something we never did? Enough with the hand-wringing and perseveration. We’ve smoked this one down to the filter.

Well, no, apparently we are not done. As historian of medical genetics Nathaniel Comfort has pointed out in a recent thoughtful Genotopia blog (with an equally thoughtful commentary by Alex Stern, the biographer of our profession), eugenics discussions are back with us. We need to keep having the discussion because apparently we are not sadder and wiser people this morn. Some even think – with great hubris, in my view – that with our supposedly greater wisdom and technological advances, maybe some version of eugenics is not such a bad idea after all.

I am not going to repeat Nathaniel’s and Alex’s arguments here; visit the Genotopia blog and read the originals. What I want to do is to offer a  framework for thinking about the issues raised by these historians and introduce the concept of genetic discrimination into the mix.

Genetic discrimination, in my definition, is discrimination based on a person’s presumed or actual genotype and it’s presumed or actual phenotypic expression. The word discrimination comes from  the Late Latin discriminationem, meaning “to make distinctions” and can have both negative and positive connotations. Racial and gender discrimination that results in suffering and inequity is bad. But a discriminating person is one who shows great taste for fine things. Not to try to dance too many angels and devils on the head of this pin, but perhaps when discrimination has a negative effect, it could be called dyscrimination.

Eugenics, then, can be viewed as a form of negative genetic discrimination, the goal of which is to improve the genetic health (whatever that means) of future generations.

Prenatal diagnosis, the usual aim of eugenic critiques, is not eugenic because it does not try to alter allele frequencies of future generations. Down syndrome is almost never an inherited disorder, and people with Down syndrome rarely reproduce. Prenatal diagnosis is not an attempt at “the self direction of human evolution,” as the 1921 Second International Eugenics Congress defined eugenics.  But from the standpoint of some, prenatal diagnosis is a form of negative genetic discrimination – fetuses are discriminated against because of their genome and the common but inaccurate perception of the Down syndrome phenotype as a backward child with a heart defect but a pleasant personality. Although the insensitive term mongolism is rare these days, the common image of “the Mongol child” has not evolved as much as it should have.

Pre- or early pregnancy screening of parents for mutation carrier status for various genetic conditions, on the other hand, might rightfully come under eugenic criticism since its explicit goal is to improve the genetic health of future generations and to wipe out genetic diseases by preventing the conception of homozygous recessive offspring. Never mind the nonsense spewed forth on some websites; carrier screening usually has very little to do with improving the health and quality of life of babies who are born with genetic conditions. Carrier screening can result in reduced suffering if fewer children are born with life threatening or medically serious disorders but it rarely improves the health of babies who are born with those conditions. Whether this is a “good” or a “bad” form of eugenics, and how commercial laboratories advertise their product, are questions open to healthy debate.

Newborn screening, as it is currently practiced, is not eugenic because its intent is to improve the health of a child by treating the presumed phenotype based on the genotype. Newborn screening could thus be viewed as a positive form of discrimination, albeit one with flaws that we are not comfortable acknowledging . But newborn screening can also be viewed as negative genetic discrimination, depending on the condition being screened for. Some people who are deaf have raised serious concerns about screening newborns for hearing loss.

Genetic screening for adult onset disorders like Lynch syndrome or familial hypercholesterolemia may be positive genetic discrimination. The goal of this screening is to treat the phenotype based on the genotype with the hope of reducing the incidence of serious, life-threatening diseases or to mitigate their effects. Dietary changes, treatment with statins, high risk cancer screening, and surgery are strategies that are offered to people at increased hereditary risk of developing these diseases. Of course, if there were to be widespread preimplantation or prenatal diagnosis for these conditions, then we should rightly raise eugenic questions.

Why make these distinctions? Because the word eugenics has become an angry accusation that ends discussions. The social effects of genetic medicine and genetic counseling should always be open to vigorous scrutiny but the criticism needs to be accurate and sensitive to nuance. Maybe some of what we genetic counselors do is eugenic, and maybe under certain situations, this may not be as terrible as it sounds. And maybe some of what we do is dyscriminatory but not eugenic; we need to understand why it is dyscriminatory so we can do something about it. And maybe lots of what we do is very helpful for many people and not particularly eugenic. To cram all of medical genetics into a eugenic framework prevents any progress from ever being made. The two sides start to resemble Democrats and Republikans in a dysfunctional Congress, never able to engage in meaningful debate. Let’s get this albatross off our necks.

2 Comments

Filed under Robert Resta

A Review Of “Anybody’s Miracle,” A Novel By Laura Hercher, Genetic Counselor

It’s not everyday that a genetic counselor publishes a novel. In fact, I think that has only happened on one day, with the recent publication of Anybody’s Miracle (Herring River Press) by our genetic counseling colleague Laura Hercher.

41wxG7-Kp-L._BO2,204,203,200_PIsitb-sticker-arrow-click,TopRight,35,-76_AA300_SH20_OU01_

Laura is my partner in blogging crime here at The DNA Exchange. One might rightly point my own finger at me and accuse me of a conflict of interest in reviewing a book written by a fellow DNA Ex’er. While this review may amount to a bit of free advertising for Laura, I will not receive a single ha’penny or any other form of compensation from Laura, her publisher, or anybody connected with Laura.

Anybody’s Miracle is about the tangled web we weave once we begin to conceive. The story centers on Robin Hogan, a bright, beautiful Catholic woman whose otherwise wonderful life lacks one thing – children. Unable to conceive naturally, she and her husband suffer through the trials and tribulations of infertility work-ups. After nearly losing her life from ovarian hyperstimulation, she conceives twin boys with the help of IVF, and here the story takes off after a slowish start.  She desperately wishes to conceive another child even though the risks to her health are great. Robin then becomes driven to learn the fate of her frozen embryos, who she thinks of as her children. Robin’s sleuthing  leads to the discovery that one of her embryos resulted in a successful pregnancy for an infertile couple and  she hatches an entirely unethical scheme to learn the couple’s identities. Robin’s becomes obsessed with the child – the daughter she never had! –  and takes to spying on the family and photographing  the girl from a distance.

Just when the going starts to get creepy, the plot twists like a helix when the little girl develops leukemia and requires a bone marrow transplant.  Of course the only compatible donor  turns out to be one of Robin’s twin boys, who is the girl’s genetic brother. Because of poor communication, misconceptions, and Robin’s Hitchcockian obsession with the girl, the two families clash when the girl’s parents not unreasonably believe that Robin will demand they give up their daughter to Robin in exchange for using her son as a bone marrow donor. Lawsuits, meetings with high-profile lawyers who have their own agendas, and media hoopla follow in grand style. The craziness is resolved only with the unwitting help and innocence of a hungry little boy.

Set during the 1990’s and early 2000’s, the story plays out against the major events and trends of that era – the dot.com bust, 9/11, cell phones, homosexuality taking its first tentative steps out of the social closet, and parents obsessed with raising their children as if they were organic vegetables. Perhaps the greatest miracle of all – the breaking of the Curse of the Bambino by the  2004 Boston Red Sox – plays a critical symbolic role. The novel explores  several themes near and dear to the hearts of genetic counselors – the conflicts that arise when parenthood is defined by genetic, social, and gestational criteria; the moral and social status of embryos; and how the often deep and profound childbearing urge will push some people to great personal and ethical extremes.

The book is an easy and enjoyable read, and the pacing, though occasionally uneven, will keep you wanting to know what happens next. I thought the ending wrapped things up a bit too neatly and happily. I was also hoping for a larger role for a genetic counselor character (genetic counseling is mentioned very briefly  when an “offstage” GC make what I would describe a bad professional judgment call), but that does not detract from the novel. Anybody’s Miracle arrives just in time for a good summer read for genetic counselors. Maybe if you bring it to the AEC in Anaheim in October, you can get Laura to autograph your copy.

The closest similar achievement by a genetic counselor that I know of was by Anna Phelan, a former genetic counselor who wrote the script for Mask, the 1985 Peter Bogdonavich movie that starred Cher and was based on the life of Rocky Dennis, a young man with craniodiaphyseal dypslasia. Anna went on to contribute to  Gorillas in the Mist,  Girl, Interrupted and other films. There are a number of creative talents in the genetic counseling community – Jon Weil’s intriguing pottery, the photography of  Jean Pfotenhauer and Liane Abrams, to name just a few . Use the Comments section below to tell us of the creative skills of other genetic counselors so we can celebrate the talents of all of our colleagues.

2 Comments

Filed under Robert Resta

Star Power

BRCA is a hot news item these days. The SCOTUS ruling on the Myriad patent. Angeline Jolie writing in the New York Times about her experience with BRCA testing. A movie about BRCA testing starring Helen Hunt as Mary-Claire King (Hey,when they make the movie about me, they will have to get Clooney or Depp for the lead). But BRCA testing has been around for about 15 years and I have met with  thousands of patients who have gone through the decision-making process about genetic testing. For some the choice was a snap; for others it was a difficult, soul-searching affair. I eventually realized  the obvious – nobody undergoes BRCA testing until they are emotionally ready.

Public lectures, brochures, ad campaigns, podcasts, TV commercials, advertisements, physician referrals, and word of mouth all increase awareness of BRCA testing but they do not necessarily drive people to actually meet with a genetic counselor or to undergo testing. When reviewing medical records prior to a patient’s appointment, I frequently see the notation “Recommended that the patient see Bob Resta for BRCA testing” repeated multiple times over the years by different providers – radiologists, family practitioners, gynecologists, etc. Patients often need a trigger to make the appointment phone call. A cancer diagnosis pushes some patients to testing to help guide their treatment decisions, which, from a preventative public health stand point, is a significant systems failure. Many patients, particularly those who have not yet been diagnosed with cancer, need an emotional trigger – a friend diagnosed with cancer, reaching the age when a parent was diagnosed with cancer, coming to grips with the responsibilities of parenthood, or an experience that causes them to acknowledge their mortality.

These triggers have resulted in a more or less steadily increasing flow of  referrals, with occasional rises and dips that follows a pattern that is no more transparent to me than the whimsical ups and downs of the stock market. But overall cancer genetic counseling and testing is still underutilized.

And then came Angelina Jolie.

I am guessing that most cancer genetics programs were swamped with a tsunami of referrals after May 14th.  Rumor has it that  some genetic counselors have taken to saying that the AJ Panel now stands for Angelina Jolie Panel, not Ashkenazi Jewish Panel (well, not really, I just made that up, but it could be true). At my institution, I roll my own; I am the only genetic counselor in our hereditary cancer program, so the leap in patient volume has been particularly acute for me.

Wave

Initially I thought I was just a cranky old counselor complaining about a couple of busy days. But then I  compared my patient load in the 4 weeks before Angelina Jolie’s New York Times piece on May 14th  to the 4 weeks after. I grant you this is not exactly a scientific methodology, and I can think of all kinds of faults in the study design. But it probably provides a reasonable approximation of reality.

In the 4 weeks before May 14th, I met with 54 patients, almost all of whom were new patients, a typical volume for me. Twenty of those 54 visits (37%) were by patients who had a family history of  cancer, rather than having been diagnosed with  cancer. 35 patients underwent BRCA testing.

In comparison, in the 4 weeks after May 14th, there have been 90 clinic visits, a 66% increase compared to the prior 4 weeks.  58 patients underwent BRCA testing, also a 66% increase. It was not due to mini-epidemic of breast cancer in my neck of the woods (although Seattle has the highest incidence of breast cancer in the country) – 52 of those 90 visits (58%) were by healthy patients who had a family history of cancer.

Perhaps this bump in my workload was  a seasonal thing as people clear off their to-do lists before summer vacation, but I did not find similar patterns in April/May/June of 2011 or 2012. In fact, in 30 years of practice, I do not believe that my patient volume has ever risen so rapidly so quickly. It is fair to say this increase is largely due to Ms. Jolie’s revelation. Presumably this will eventually taper off. But I already have 20 patients on my schedule for the coming week.

I usually ask patients what motivated them to come in for genetic counseling at this particular time in their lives. A few patients have admitted that Ms. Jolie was their impetus for seeking genetic counseling.  But most were quick to say – sometimes without prompt – “I am not here because of Angelina Jolie. I just decided it was the right time to come in.” That may be true for some, but I suspect that downplaying the Angelina Jolie angle may reflect a bit of embarrassed denial on the part of others. All of us are influenced by influential people, which is why we call them influential. Influence, however, can be so subtly pervasive that we cannot detect its fingerprints. Just ask Don Draper.

Movie

I am not critical of Angelina Jolie’s decision to share her story. No matter how famous you are, it has to be difficult to share such an intensely personal narrative with just about every human being on earth. And her actions may very well help save lives and reduce suffering, which is what we are trying to do in medical care. To many of us, though, it seems paradoxically odd but not surprising that a movie star can play such a critical role in people’s lives. She is not a health care expert; she doesn’t even play a doctor on TV.

But as I have argued before, genetic counselors have less influence on patients than we like to believe. Medical decisions and healthcare utilization are shaped by a complex web of emotional, social, cultural, and psychological factors, many of which people are not willing to acknowledge or are even cognizant of, and which are beyond the control of genetic counselors.

If we want to better integrate genetic counseling into standard medical care, we need to move beyond a model of Healthcare Provider Education and  Referral Pamphlets  Are The Best Way To Get People Into Our Offices. We need to take a page from DTC genetic companies’ playbooks and make it less of a hassle for patients to utilize genetic counseling and testing. We need to tap into social psychology and tease out the factors that lead patient’s from their front doors to our office doors. The future of the genetic counseling profession depends on it.

2 Comments

Filed under Robert Resta