Wherever You Go, There You Are

This commentary is contributed as part of the guest blogger series Diverse GC Roles.

 

By Amelia Chappelle, MA, MS

Amelia Chappelle graduated from Sarah Lawrence College in 2007 with a dual masters degrees in Human Genetics and Health Advocacy. Upon graduation, she joined Genetic Alliance, a nonprofit health advocacy organization, and oversaw the Access to Credible Resources Network project and Genetic Alliance resources and services. In November 2010, Amelia moved from Washington, DC to her hometown of Seattle, WA to manage research projects at the University of Washington in the areas of preventing and disclosing medical errors. Amelia continues to work part-time with Genetic Alliance and is enjoying splitting her professional time between both organizations.

Even during graduate school, I supposed I was what the field of genetic counseling calls “nontraditional.” Although at the time, I wasn’t necessarily thinking of what position I would hold in the field as much as following what naturally interested me. During the first semester of human genetics classes at Sarah Lawrence, I kept hearing about the courses the Health Advocacy program students were taking. They seemed so complementary to my current courses, and in my second semester in the human genetics program, I added some health advocacy classes. Yes, “busy” doesn’t begin to describe it. As both were two-year programs, I smooshed them into three years and completed two summer internships (that combined requirements for both programs). Looking back, what I was yearning for was an understanding of the larger system in which genetic counselors practice. I wanted to better understand health economics, health politics, illness narratives- a single genetic counseling session doesn’t happen in a vacuum, and I wanted a better grasp on that messy, complicated bigger picture.

During graduate school, I heard about a nonprofit called Genetic Alliance, and upon learning more, I knew I found a place for me. Genetic Alliance so closely mirrored my interests (and degrees)- an organization that is the voice of advocacy in genetics. I was drawn to the scope of the mission, addressing health and genetics from the perspective of individuals and families but also from a larger systemic view. I applied for a position that I was in no way qualified for (five years of experience in project management? Ummm…), and somehow got an interview. While I was being a bit ambitious, it turns out Genetic Alliance was as well. They hired me and another employee, without having a direct line of funding for my position. Just goes to show- if you’re passionate about an organization, a cause, a position, a project, take a chance! You just never know. I worked full-time for Genetic Alliance for three and a half years, grew as a person, and gained an extremely wide range of skills and experience.

Although I enjoyed my 11-year stint on the East Coast, I felt a pull back to my Pacific Northwest home grow stronger and stronger with every passing season. In November 2010, I took a position at the University of Washington as a research coordinator. It was a full-time position, but I negotiated a 32 hour/week position in order to maintain an 8 hour/week stint working remotely for Genetic Alliance.

At first I thought it was a bit strange that I was taking a job that doesn’t directly have anything to do with genetics, but when I actually got down to the work, it doesn’t feel odd at all. My research team’s work all revolves around medical errors and adverse events- how to reduce them and how to handle them appropriately when they happen. While I’m not talking about genetics every day, the topics I do encounter every day are extremely familiar: empathy, truth-telling, sincerity, accurate and situational appropriate communication skills, an understanding of both the individual and the system’s role, the list goes on. The job skills are also familiar, thanks to my training and years at Genetic Alliance: project management, time management, relational skills, communication skills, supervisory skills, organizational skills, business savvy, flexibility, creativity, and patience.

I think two unique aspects that make genetic counselors poised to excel in any number of positions are the abilities to make complex topics easy to understand and to empathize with others. Those two skills are applicable to so many professions- and situations throughout life. If I’ve learned anything throughout my (humbly short) career, it’s to take a chance, go after what you want, and it just might happen!

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Guest Blogger Series: Diverse GC Roles

We’re trying something new at theDNAexchange this week. In response to the feedback that we’ve received about people’s interest in learning more about job opportunities outside of the traditional genetic counselling route, we’ve asked a handful of friends and acquaintances currently working in unique areas to share their experience as a genetic counsellor in a diverse role.

We are grateful to have a great group of individuals who have agreed to participate in this series, and we can’t wait to share their stories with you. This is a project I have personally wanted to do for quite some time, and I am thrilled that it has finally come together. Each day this week, 1 or 2 new guest posts will be published, so please check back often. We hope people out there enjoy this blog-experiment. Hopefully we can learn from one another, and maybe find some inspiration to try something new.  Stay tuned! The first guest post will be coming up this afternoon!

(Image credit: Shira Golding / link to full image here)

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FDA Public Meeting on DTC Testing

March 8-9, 2011

As you may know, this week the FDA is hosting a 2-day public meeting about DTC testing, in an effort to develop some guidelines around regulation. It turns out that a handful of dedicated bloggers (namely Dan Vorhaus of Genomics Law Report) are in attendance and are invested in sharing every detail of the proceedings with the online community via Twitter.

Even if you don’t have a twitter account and/or if you tend to avoid this social media tool like the plague, there has never been a better time to test it out and learn how incredibly useful and informative it can be. For a complete play-by-play of what happened today and for real-time updates on tomorrow’s proceedings click on this link and voila!– it will be like you are sitting right there: #FDADTC

Are there any GCs in attendance at this meeting? If so, would love to hear your thoughts. When I have a chance to digest some of this myself I’ll try and share a summary and short post here, but for now you can find a quick  summary the first day on Daniel MacArthur’s blog, Genetic Future.

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A Lover’s Lament: What If We Stopped Seeing Each Other?

Your head says forget it
But your heart’s still smokin’

-Joni Mitchell, “You Turn Me On, I’m A Radio”

I love my profession. My heart belongs to my wife, but that’s a different sort of love.* I love my job because it affords me the privilege of being admitted into the deep recesses of patients’ emotional landscapes as they make complicated decisions and experience life-altering events. And I love genetic counseling because it let’s me believe that my skills and education are making a dent in this hard, hard world. I hope that I am helping reduce the emotional and physical suffering from genetic disease and that I make patients’ lives better in small or big ways.

Or perhaps I am  unrealistically romantic. It could be that for many patients genetic counseling doesn’t amount to a hill of beans. Maybe I get more out of this relationship than they do.

Intimate relationships are, by their nature, plagued by doubt. But unexplored doubt only festers. So let me ask  a very difficult question: Would it make a heck of a lot of difference to the world if the profession of genetic counseling abruptly vanished? Who would notice?

We like to think that we are critical to Mission Healthcare. And no doubt we can all supply a fistful of anecdotes to support our case. This patient was given inaccurate information by her physician and almost had an unnecessary mastectomy before she saw me. Or  how about that physician who told the patient she had Huntington disease when in fact she had a normal number of repeats? That poor woman was beside herself. A patient last week said I was the only one who could help her come to grips with her child’s diagnosis, and she finally felt like she and her husband could get on with the business of being a family again. And then there was that evil dragon of an insurance company I slew the other day.

To be sure, these anecdotes are important to me; they keep my heart smokin’. But my head asks “How do we know that somebody else couldn’t do our job as well, if not better, or that our jobs are even necessary?” Where are the studies that compare genetic counselors to other healthcare providers, or  to smart phone apps for that matter? There are a few studies, but they are limited by small sample sizes or questionable outcome measures like information recall and anxiety. Which genetic counseling patient isn’t rightly anxious and wouldn’t it be more useful to help them cope with their anxiety rather than trying to make it poof-disappear?

So if genetic counselors weren’t here, maybe some people would never quite grasp  the subtleties of x-linked inheritance, the mechanics of adjacent 1 segregation, or the bayesian likelihood that they will have a child with spinal muscular atrophy. Who knows if patients even care about these matters? We all know that knowledge has very little to do with decision-making or adaptation and patients will still be just as anxious.  And if prenatal diagnosis ceased to exist, the net result would be an increase in the number of births of children with Down syndrome . One might argue this is not exactly a public health emergency or a critical failure of the healthcare system.

How can I doubt something I have been doing for three decades? Well, the doubt is mostly in my head, not in my heart. So I challenge you all to restore my faith in this relationship. Prove our value to patients and the healthcare system. Go out and do the studies. Measure all kinds of outcomes – psychosocial adaptation, public health measures like reducing the incidence of serious cancers, quality of decision making (how come nobody tries to measure whether patients make good decisions or bad decisions?), empowerment, perceive personal control, whatever. Do them all.  Let’s finally listen seriously to Shoshana Shiloh, Marion McAllister, Barb Biesecker and the other researchers who have been prodding us for years to examine genetic counseling outcomes. But then be prepared to take a long, hard look at ourselves, what we do, if we should even be doing it, question our assumptions and ethos, and think about how we should change the very nature of genetic counseling. Let’s be sure the relationship is as rewarding for our patients as it is for us. Make the fire in my heart spark some passion in my head.

* – My love for my wife is better evoked by this verse from a Tom Waits song:

In this land there’s a town/In that town there’s a house/ In that house there’s a woman/And in that woman there’s a heart that I love.

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Digesting the Scripps DTC Study Results

Last week preliminary data from a Scripps Health study, looking at effects of DTC genomewide testing, were published in the New England Journal of Medicine (link to pdf article). The study represents the first published data of this kind. Up until this point, the dialogue surrounding the potential benefits and harms of DTC testing has been mostly anecdotal guess-work. So, needless to say, these results are important. Media outlets were quick to report that ‘consumers can handle the truth’ and that testing has no impact on health behaviour.   But, beyond snappy headlines, these results warrant a closer look. I thought I’d give a quick run-down of my reaction here, in the hopes of getting a good discussion going.

In full disclosure, I recently joined The Medcan Clinic in Toronto as a genetic counsellor. We offer personal genome testing using the Navigenics platform in the context of a comprehensive genetics assessment (see ‘Putting GC into DTC’ guest post from last year for details on this model.)  As you can imagine, I am particularly interested in these findings.

Some important things regarding study design:

  • Study subjects participated in health assessments (assessing dietary fat intake, exercise behaviour, anxiety symptoms and uptake of screening tests) using an electronic survey tool. No physical exam or blood work was taken into account in assessing baseline or follow-up parameters here.
  • These results represent data from the baseline assessment and a 3-month follow-up. This is a 20-year longitudinal study, so essentially this data is the tip of the iceberg.
  • The study protocol used the Navigenics Health Compass testing, but Navigenics did not provide any financial support for the study, nor were they part of the study design, analysis of data or manuscript preparation.

The most interesting points (as I see it):

  • At 3-month follow-up, there were no significant health behavior changes made by study participants measured by amount of fat intake and exercise behavior, except for in the 26.5% of participants who reported sharing their results with their doctor. These participants did have lower fat intake and increased exercise activity.
  • Those who shared their results with a Navigenics genetic counselor only (10%) did not show any significant behavior change.
  • At 3-month follow-up, there was no significantly increased anxiety or test related distress. Whether or not an individual had genetic counseling did not affect this parameter.

What I take from this:

  • Sharing results with a physician is more likely to impact health behavior. This lends evidence against the direct-to-consumer model.
  • As genetic counselors, maybe we need to be more focused on the potential for us to add value to consumers of genome wide testing, and less focussed on the potential psychological harms of the testing.
  • We all know these tests do not take into account family history. There is a role of GCs to help consumers understand their risks in the context of their family history, to assist consumers in sharing this information with their doctors, and to work with general practitioners to help integrate this information into their practice.

What I can’t wait to see:

  • More long term data! This is predisposition testing combined with 3-month follow-up info. I am curious to see whether more subjects decide to share this information with physicians down the road (presumably many did not have doctor’s visits scheduled in the months immediately following receipt of their results). I’m also curious about whether consumers or physicians will use this information to guide future investigations, when these subjects experience an issue requiring attention.

There are obviously a huge number of issues beyond those I’ve highlighted here. Please share your thoughts and reactions below.

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Kellogg’s Complaint

Improper kinds of food in the stomach and intestines, will, in this excessively irritable state of the system, cause nocturnal emissions……Farinaecous foods, properly prepared, is incomparably the best aliment for such a sufferer.….

– from A Lecture to Young Men (1838) by Sylvester Graham, Inventor of Graham Crackers

I study the history of genetics because it provides insight into the practice and ethos of genetic counseling. The historical perspective helps me understand why I do what I do. But I also love studying history because of its quirky recesses and unsuspected intersections of historical trajectories. Like  the common thread of eugenics that runs through the histories of masturbation, breakfast cereal, and vasectomy.

Most scholars point to the early 18th century as the beginning of the Western World’s repulsion/fascination with masturbation. In about 1712, an anonymous author published a pamphlet titled Onania; or The Heinous Sin of Self Pollution and all its Frightful Consequences, in both SEXES Considered …. (the title goes on for another 30 words or so) that describes the physical and psychological toll taken on those who engaged in what was politely called “the solitary vice,” as well as advice on how to treat the newly-minted medical condition.  Onania appeared in multiple editions throughout Europe and the United States. Over the next two centuries numerous similar publications followed , all  variations on the same theme, i.e. men and women needed to be saved from the debilitating effects of this evil practice (WARNING: This video link is somewhat risqué).

Some of the great minds of Western history weighed in on self-stimulation, such as Immanuel Kant (he is the father of autonomy, after all), Jean-Jacques Rousseau, and of course Sigmund Freud. Richard Wagner, the great German composer and anti-Semite, foreshadowed future connections between eugenics and masturbation when he blamed the degeneracy of Jews on their supposed frequent practice of “self-pollution.” Some authors recommended extreme physical measures to prevent masturbation (WARNING: this link is not for the weak of heart or those who might be offended by unusual paraphernalia). Christine O’Donnell is just one of the lesser lights in a long and eclectic line of anti-masturbationists.

In America, one of the most committed anti-masturbationists was John Harvey Kellogg, a respected surgeon who believed that a vegetarian diet and vigorous exercise promoted physical and emotional health. Kellogg was particularly concerned that sex, including sexual relations between husband and wife , was detrimental to health and well-being (all of his 42 children were adopted or foster. He and his wife slept in separate bedrooms and proudly spoke of their lack of a sexual relationship). The most debilitating sexual behavior was masturbation, which, according to Kellogg,  could be identified by any of 39 signs such as general debility, early signs of consumption, premature and defective development, failure of mental capacity, love of solitude, unnatural boldness, mock piety, paralysis, and eating clay, slate pencils, plaster, and chalk.

For Kellogg, the solution to the masturbation problem was simple – a healthy diet and active lifestyle.  Kellogg concocted various foods with the aim of promoting health and preventing masturbation. Granola was one of his earlier attempts. Eventually, Kellogg, along with his brother Will, developed what they felt was the perfect health food – flaked dry cereal, what we know today as Kellogg’s Cornflakes. The Kellogg brothers served cornflakes at their exclusive Sanitarium in Battle Creek to well-heeled clients  – along with a daily serving of yogurt administered to both ends of their clients’ digestive tracts. One bowl of cornflakes in the morning and Voila!  not only will you be healthy, you will become master of your own domain.

Concerned as he was with individual purity, it is not surprising that Kellogg was interested in racial purity. In 1906 (the same year his brother Will founded what would eventually become the Kellogg Cereal company), he established the Race Betterment Foundation in Battle Creek. The Foundation, one of the key eugenic centers in the United States, sponsored 3 conferences on race betterment, collected eugenic family histories, and worked with other eugenics organizations around the country.

From here the story heads south to the state reformatory for youthful offenders in Jeffersonville, Indiana where Dr. Harry Sharp presided as the institution’s medical superintendent. The aptly named Dr. Sharp is generally regarded as the father of vasectomy. Sharp honed his surgical skills on the reformatory’s young men among whom masturbation was presumably a common occurrence, a behavior that did not sit well with the medical superintendent. As Sharp tells it “…the story of my first operation in October, 1899. A boy 19 years old came to me and asked he be castrated, as he could not resist the desire to masturbate….I did the operation [vasectomy, not castration]…..In two month’s time he came to me and told me he had ceased to masturbate and that he was all right… Three months after that operation he made satisfactory advances in the school. This was true practically of every man operated on; every man who has ceased to masturbate has assigned the same reason: practically every man sleeps better, feels better and has a better appetite.” Sharp went on to perform another 175 vasectomies between 1899 and 1907 “solely for the purpose of relief from the habit of masturbation.”

Sharp, like many of his contemporaries, became interested in eugenics.  From his viewpoint in a penal institution, he saw a world overcrowded with indiscriminately breeding mental and physical defectives: “The class of individuals is very prolific, from the fact that in the matter of sexuality, as in everything else, they know of no self-restraint. They indulge their selfish lust, ab libitum, with no thought whatsoever  as to what the result may be…..They simply know that they want gratification, and gratification they are going to have.” Sharp wanted to curtail reproduction among those with defective germ plasm.  After dismissing alternative approaches like marriage restriction laws, castration, and segregation, he championed vasectomy  as the cure for eugenic degradation because, in his view, the procedure was quick and easy to perform, had no serious side effects, did not hamper a man’s pursuit of life, liberty or happiness, and “it is endorsed by the persons subjected to it.” Sharp performed 456 eugenic vasectomies between 1899 and 1908. Note that Indiana did not enact a mandatory sterilization law until 1907; in 1909, Indiana governor Thomas Marhsall ordered a moratorium on sterilizations (In an odd historical connection to another well-known consumer products company, the reformatory eventually became a factory for Colgate-Palmolive).

It is easy to dismiss Kellogg as a, well, flake, and Sharp as a narrow-minded crank. Yet in many ways society has benefited from both men (though not in the ways they intended). Neither man fits neatly into labels like eugenicist or eccentric. They were complex men who were  products of their complicated times. Eugenics, anti-masturbation preaching, health foods, and vasectomy were all “in the air” in the late 19th century, and it is not surprising that their paths should criss-cross.

There is an ironic modern twist to the end of this tale. The state of Washington recently enacted legislation granting licensure to genetic counselors. In completing my license application, I was required to affirm that I have never been convicted of “frotteurism.”  I have never been accused or convicted of any crime but I could not honestly answer the question because I didn’t know the meaning of frotteurism, so I looked it up: the practice of touching or rubbing against the clothed body of another person in a crowd as a means of obtaining sexual gratification. All those bowls of cornflakes and graham crackers from my childhood finally paid off.

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Guest Post: Using your Skills Outside the GC Session

By Leslie Ordal

Leslie Ordal writes and works in continuing medical education in Ottawa. A graduate of Wellesley College, she is in the process of making a career change to genetic counselling. She maintains the Twitter account GenCounsNews, devoted exclusively to the topic of genetic counselling, and is also active in community health education activities.

Having spent the last year and a half preparing to apply to a graduate program for genetic counseling, I’ve read with interest the entries on this blog about “non-traditional” roles for genetic counselors. My own aspirations in the field fall more on the traditional side, but coming from a varied academic and professional background it’s interesting to see how genetic counselors are applying their skills outside of the textbook definition.

I work in health care and have observed a growing movement to improve communication between providers and patients. I’ve been to a few informational sessions about the need to communicate in plain language, or take into account an individual’s background and beliefs when advising them about their health. It occurred to me that the ideal person to coordinate this kind of education would be a genetic counselor. GCs are able to tailor their information to a patient’s individual level of knowledge, know how to discuss sensitive topics in an unbiased way, and have a keen understanding of the impact of even seemingly minor health care decisions on people’s lives. These skills are useful beyond the field of genetics: nurses giving discharge orders to patients need to be able to simplify their instructions appropriately, for example, while physicians may benefit from understanding the cultural reasons behind a patient’s refusal to answer particular questions or undergo a certain procedure. All health care providers can improve their care by understanding how a poorly phrased diagnosis or comment about a patient’s condition may have a major effect on that patient’s life and well-being.

A genetic counselor would be well-equipped to share this kind of knowledge and insight with other health care professionals. This kind of work, while not a career in and of itself, seems like an interesting “side project” for the genetic counselor who wants to expand the field they work in and at the same time raise awareness of their own profession.

Have you had any experiences where you used your genetic counseling skills outside your field? If so, please comment–I’d be interested to hear about them.

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