Tag Archives: Genetic counseling

by | March 16, 2011 · 9:18 AM

Starting Something New After 30 Years

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

 

By Vickie Venne, MS

Vickie Venne, MS, is a licensed genetic counselor with Genomic Medicine Services of the Department of Veterans Affairs. Prior to joining the Genomic Medicine Service, she was Research Associate at Huntsman Cancer Institute. Ms. Venne is also actively involved in the National Society of Genetic Counselors, participating on many committees, task forces, and the editorial board of the Journal of Genetic Counseling, in addition to serving as President in 1995/6. In addition to numerous manuscripts and chapters, she has co-authored a book about genetics for the general public: The Genome Book: a Must-Have Guide to your DNA for Maximum Health.

Last month, after over 30 years as a genetic counselor, I accepted the challenge to develop and implement a new and exciting program with the Department of Veteran Affairs. I plan on it being my final career move and see it as the culmination of the variety of positions I have held over the years.

For the last 15 years, I have been at Huntsman Cancer Institute in a position that relied generally on grant funding. The largest research project was the Breast Cancer Family Registry, which allowed me to counsel and annually follow several generations of high risk families. It was an amazing privilege in a world when genetic counselors often don’t have the opportunity to provide long-term follow-up.

But by 2010, grant funding and the research focus was changing. I wanted to stay in Salt Lake, but there aren’t many positions available for someone with my experience. I graduated from Sarah Lawrence in 1978 and my career has been varied, and unique in that I have created every one of my five previous positions. Some were traditional, such as pediatric and prenatal clinics, when in the 1980s, those services were still being developed. In 1988, I became one of the first genetic counselors to work in a commercial molecular laboratory. So I considered using this experience to develop a role in other adult onset clinics, such as diabetes or ophthalmology.

Meanwhile, unbeknownst to me, in 2006, the Department of Veterans Affairs was developing a Genomic Medicine Program with the expectation of having both a research and a clinical arm. Larry Meyer, MD, PhD, was named Director of the Genomic Medicine Service, the clinical arm. From a home base in Salt Lake City, a staff of 6 to 15 genetic counselors would provide education and consultations to both providers and patients throughout the country. How perfect.

I applied. Last month, I became the first licensed genetic counselor hired by the VA specifically to provide clinical services. There are other genetic counselors in the VA, but are part of research protocols or are contracted. This month, we hired our second genetic counselor, with plans to add more.

Locally, we will provide traditional face-to-face counseling. For the 153 other VA hospitals around the country: welcome to telehealth. The VA is adding telehealth infrastructure into every single VA hospital and community facility across the country. This will allow our staff to offer high quality genetic counseling and testing via real-time video conferencing and phone consultations to our nation’s Veterans.

Not that some aren’t already receiving care, but it is sporadic. The Genomic Medicine Service will allow for a consistent, nationally-available service that coordinates with local primary care providers. I suspect we will have the chance to work with genetic counselors outside of the VA system who provide services to individual Veterans.

What do my new days look like?  Thankfully, I know genetics, because the rest is new!

  • learning a new electronic medical record system and creating templates for requesting consults/chart notes/letters/follow-up
  • considering which data to enter into what type of database
  • preparing for ongoing performance evaluations
  • creating genetic content sheets for the clinicians as well as the patients.

As for the ‘genre’ of our clinic… There will be two different ways in which we will provide service.  First, we will respond to individual consults, which I suspect will span the adult condition spectrum, from diabetes to cancer to ophthalmology, and as the number of female Veterans grows, include prenatal diagnosis. There are already experts in these specialty areas available to the VA. Our job is to find those experts and develop national collaborations so Veterans across the country can obtain a consistent, high quality genetic service.

Secondly, we will also actively introduce genetic services that are ready for prime time, starting with Lynch screening. In the coming year, we will implement a protocol such that every Veteran with colorectal cancer will have the tumor processed for screening that may ultimately identify between 100 and 200 individuals annually with Lynch syndrome.

I took this position because of the professional opportunity, and it seemed the culmination of my experiences. And, I get to stay in Salt Lake. I can maintain my current friendships and add new colleagues to my life. I was initially nervous about leaving the comfort of a position I had been in for 15 years, but in this past month, have found that I absolutely love the challenge of learning something brand new. It has also been fun to reconnect with colleagues who I have met over the years and will work with in a new capacity. I would encourage all genetic counselors – both senior and new to the field – to explore ways in which their variety of skills can be used to augment or develop new programs.

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by | March 15, 2011 · 10:00 PM

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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by | February 7, 2011 · 11:08 PM

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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by | January 17, 2011 · 9:38 AM

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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by | January 11, 2011 · 11:29 PM

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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by | December 5, 2010 · 6:33 PM

Considering The Future of Genetic Counseling, Act II

When it comes to the future, there are three kinds of people: those who let it happen, those who make it happen, and those who wonder what happened.
John M. Richardson, Jr.

Those who predict the future are doomed to be wrong; just ask anyone at the race track or on Wall Street. But fear of failure should not hold us back; we have much to learn from error. So, to continue with the theme of the future of genetic counseling (see my previous posting), I will venture a few more guesses about the issues we should be considering when planning for tomorrow.

1. ) Safe and Legal Abortion Is Not Guaranteed For The Future : Abortion and abortion providers are under legal, social, and physical attack. It is not out of the question that Roe v. Wade may one day be overturned. Although it makes us uncomfortable to hear it, prenatal diagnosis is largely predicated on the availability of abortion.  It does not make economic sense to offer aneuploidy screening primarily to prepare parents for the birth of a

child with disabilities. If abortion becomes unavailable, insurers may be less likely to cover prenatal diagnosis, which could result in a dramatic drop in prenatal diagnosis job opportunities. And economic issues aside, is it morally justifiable to undertake the small risk of losing the pregnancy from amniocentesis or CVS simply because of parental anxiety or the desire for emotional preparation? You say that prenatal diagnosis can be important to long term developmental/medical outcome and familial adaptation. I say, aside from rare exceptions, the data is just not there to support your contention (and remember that the plural of “anecdote” is not “data”). So go out and do the studies and prove me wrong.

2) We Can’t Afford to Ignore Cost Effectiveness: Genetic counseling will likely come under increasing economic scrutiny. While I want to believe that our value to health care goes beyond dollar-savings, we nonetheless have to fiscally justify our employment and work loads. And, at times, we may be facing contradictory economic pressures. We will want to show that we lower healthcare costs by reducing the number of unnecessary genetic tests, ensuring appropriate medical screening based on genetic assessment, or whatever other means to demonstrate that we help produce a healthier population in a cost-effective manner.

On the other hand, we will be receiving subtle and not so subtle pressures from our employers to increase the number of revenue-raising activities. Back in the early 2000s, many centers, including my own, experienced a sharp drop in the number of patients who underwent amniocentesis, I suspect the result of  a social trend in changes in attitudes toward abortion and disability. At one point, my boss said only half-kiddingly “Bob, you are counseling yourself right out of a job.” Genetic counselors need to take the lead in conducting studies that show our cost-effectiveness while simultaneously demonstrating that we do not hurt our institutions’ bottom lines.

3) The Human Genome Project May Not Deliver On Its Promises: Genomic medicine is the medical technology du jour. All sorts of claims have been made about how genetics will revolutionize health care and cure everything from diabetes to the heartbreak of psoriasis. We have promised the moon. But what if the “genetic revolution” never comes? Or what if genomic medicine simply falls by the wayside as some new medical technology becomes sexier and more promising than genetics? Will funding for genetic research and clinical positions dry up? We need to stay alert to changes in other areas of medical care and adapt genetics to the changing practice of medicine.

4) The United States Will Not Be The Center Of The Genetics Universe: Until relatively recently, genetic counseling and genetic counselors have been concentrated in the US.  Although I haven’t tabulated the numbers, I am pretty sure there are more genetic counselors in the US than in the rest of the world combined. While many valuable contributions have come from Canada, the UK, both sides of the Tasman Sea, the Netherlands and other countries, the US has been the leader in the field (I will accept any criticisms of national chauvinism leveled by my international colleagues). But over the last 10-15 years, genetic counseling has spread to many other countries. New genetic counseling models will emerge as genetic counselors work in different cultural and geographic settings, especially  in non-English speaking countries. More international meetings, communication, and cooperative transnational research will be critical to the future of genetic counseling. The US model is one way of providing genetic counseling; it is not THE way, or necessarily the best way.

5) Office Visits and Flipbooks Are Soooo 20th Century: As Allie Janson Hazell and others keep reminding me, the Internet and e-technologies offer opportunities to reach more patients in a variety of ways. And as Vicki Venne recently pointed out, Millenial Generation students and patients are not going to stand for old fogey communication and teaching techniques. Some of us are just beginning to utilize the telephone to communicate test results.

I mean, come on, Sugar, it’s time to take a walk on the Wild Side.

We must open our minds and embrace, adapt to, and integrate new communication technologies to better serve our patients. Brick-and-mortar counseling has a critical place, but it may not always be the best way to ply our trade. And on-line genetic testing is not necessarily the spawn of Satan. We can’t – and maybe shouldn’t – control access to all genetic testing, but we can work to make sure genetic testing is used effectively and appropriately by patients and health care providers.

I hope I have provoked some of you into disagreement, thought, and action. Where am I off the mark? Which of my predictions are bound to be wrong? What are your predictions? How can we best prepare ourselves for the future?

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by | November 21, 2010 · 6:12 PM

Genetic Counselling Awareness Week hits Canada!

Although I know much of our readership is US-based, I thought you would all be interested in an initiative of the Canadian Association of Genetic Counsellors (CAGC) that is taking place this week.

To commemorate the 20th Anniversary of the CAGC, we’ve designated November 21-27 Genetic Counselling Awareness Week in Canada. As a Co-chair of this committee, it has been interesting and inspiring to see how this has developed into over the course of this year.

Rather than creating a structured event for GCs to carry out across the country, we put the control in GCs hands and challenged genetic counsellors nationwide to plan an initiative or event that would help to increase professional awareness in their own institution or community. The thinking behind this approach is that each region has it’s own unique strengths and challenges, and by allowing GCs to customize their message to their audience, we hope that we will have the most success in getting the word out.

We’ve created a website where we listed the events that will take place across the country this week. As I have been collecting this info from the various sites, it has been really fun to see what GCs have decided to do. Interestingly, several centres will be hosting film screenings, either in their own institution or at a community cinema. For example:

  • In Edmonton, Alberta there will be a screening of the documentary, In the Family, at a local theatre. This documentary follows a woman through her decision-making process regarding prophylactic surgery, after learning that she is a BRCA mutation carrier. Following the film, a genetic counsellor will lead a discussion regarding current practices in genetic counselling and genetic testing.
  • Genetic counsellors in Winnipeg, Manitoba have organized a screening of the documentary “Twisted” and a panel discussion in collaboration with the Dystonia Medical Research Foundation Canada. The documentary, by Laurel Chiten, weaves the stories of three dystonia sufferers as they seek treatment.
  • In Ottawa, Ontario, genetic counsellors are working in collaboration with local art company DNA11, have organized a screening of GATTACA. This late 90’s film explores the potential ethical issues that arise in a futuristic gene-centric society.

In Toronto we will be hosting a free community event at a local pub, where we will have a panel discussion and Q&A on the impact of genetic testing on individuals, families and society. Several centers plan to set up information booths in their hospital lobby and have arranged information sessions and lunch and learn events for hospital staff.

In it’s inaugural year, we expect to learn a lot and build on the experience for next year. We will collect feedback forms and photos and post them in the weeks to come on http://GeneticCounsellors.ca. Check back often to see how this develops. And who knows? Maybe next year we can collaborate with the NSGC to create a North America wide GC awareness initiative.

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by | September 19, 2010 · 4:07 PM

Let Me Into Your Grief

“In three words I can sum up everything I’ve learned about life: it goes on.”
– Robert Frost

Grief, a constant in genetic counseling, is a normal reaction to death, the loss of hopes and dreams, suffering, shattered self-images, disrupted relationships, and the other emotional fallout of genetic disease. As part of our counseling work, we try to help patients express and explore their grief so that they can heal as much as possible and move on with their lives.

 

In his 1914 poem Home Burial, Robert Frost poignantly observes – as many genetic counselors have – how grief can follow different emotional arcs in men and women. The poem is set in the indoor staircase and entry of a house, and is essentially  a dialogue between a married couple who have recently lost their firstborn child.  The loss of her son is so overwhelming to the wife, Amy, that it is beyond verbalization; life is not going on for her. Her (unnamed) husband, in her eyes, does not have the same profound sense of loss. Both are profoundly sad but their different grieving styles have created a palpable tension in their relationship. The title of the poem refers as much to the child’s grave as to the emotions that are buried in the home.

The text  is taken from Collected Poems of Robert Frost, Henry Holt and Company, New York, 1930. I have added (H) and (W) to  indicate when the husband and wife are speaking, respectively. To appreciate its full depth, power, and beauty, shut your door, take a quiet break, and read it in its entirety. A few times. A well-done video about Frost’s life includes an excellent dramatization of Home Burial that would integrate nicely into a class discussion about grief. Incidentally, Robert Lee Frost, the quintessential Yankee poet, was born in San Francisco and was supposedly named after the great Southern general Robert E. Lee.

As the poem opens, the husband spots his wife at the top of the stairs where she is once again gazing out of a window. The husband climbs the stairs and demands:

(H) ‘What is it you see from up there always?—For I want to know….’

She, in her place, refused him any help….

She let him look, sure that he wouldn’t see,

Blind creature; and a while he didn’t see.

 

Eventually though he realizes that she has been staring at the grave of their child:

But at last he murmured ‘Oh’ and again, ‘Oh.’

(W)‘What is it – what?’

(H) ‘Just that I see.’

 

(W)’You don’t,’ she challenged. ‘Tell me what it is.’

(H)’But I understand; it is … the child’s mound –‘

 

The mention of their child’s grave triggers a flood of emotions for Amy:

(W)‘Don’t, don’t, don’t, don’t,’ she cried.

She withdrew,……

And turned on him with such a daunting look,

He said twice over before he knew himself:

(H)‘Can’t a man speak of his own child he’s lost?’

(W) ‘I don’t know rightly that any man can.’

As she stands ready to escape out of the house, he pleads for her help so that he can understand her better, but is rebuffed:

(H) ‘There’s something I should like to ask you dear.’

(W) ‘You don’t know how to ask it.’

(H) ‘Help me, then.’

Her fingers moved the latch for reply.

(H) ‘My words are nearly always an offence.

I don’t know how to speak of anything

So as to please you…. A man must partly give up being a man

With women-folk.’

 

Amy once again tries to leave the house:

She moved the latch a little.

(H)‘Don’t – don’t go.

Don’t carry it to someone else this time.’

 

Desperate to get through to her, he pleads:

(H) ‘Tell me about it….Let me into your grief.’

And again he cries out

(H) ‘A man can’t speak of his own child that’s dead.’

She can’t understand his ability to bury their child and get on with life, and anger and disbelief pour out:

(W) ‘You can’t because you don’t know how to speak.

If you had any feelings, you that dug

With your own hand – how could you?- his little grave;

Making the gravel leap and leap in the air,

Leap up, like that, like that, and land so lightly

And roll back down the mound beside the hole.

I thought, Who is that man? I don’t know you…..

You could sit there with the stains on your shoes

Of the fresh earth from your own baby’s grave

 

And talk about everyday concerns.

You had stood the spade up against the wall

Outside there in the entry….’

 

At this point, the husband thinks that Amy has finally aired her emotions and is ready to reconcile herself with the death of her child:

(H)‘There, you have said it all and you feel better.

Close the door.

The heart’s gone out of it: why keep it up.’…

(W) ‘You – oh, you think the talk is all. ‘

But Frost is not about to make it easy for the couple or the reader. This grief is too profound to be resolved with the bursting of Amy’s emotional dam. As the poem ends, Amy walks out the door:

(W) ‘I must go —…’

(H) ‘I’ll follow and bring you back by force. I will! —‘

 

The poem, the story, the couple’s relationship, and the reader’s desire for a happy ending are left hanging, exhausted and unresolved, on that simple dash.

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by | August 15, 2010 · 8:44 PM

A DNA Day Surprise

There has been much sturm und drang lately about the ramifications of direct-to-consumer (DTC) genetic testing. Depending upon your point of view, either it’s the end of the world as we know it, or it’s a door opening into the future. These opinions seem to be based on, well, opinion, rather than a careful weighing of evidence – perhaps because there is no evidence.

A recent encounter with a patient who utilized DTC testing has forced me to confront my thoughts on this issue. I am purposely avoiding mentioning the name of the company – the company does not need free advertising, and the specific company does not matter to the issues at hand. I have modified the patient’s name and some personal details to be absolutely sure that anonymity is maintained.

 

Zoe, a bright and articulate 30-something Ashkenazi Jewish woman, called me on the advice of her primary care physician. She had no specific health problems or family history concerns, but likes to keep herself educated about health matters. She maintains a healthy life style and has long been interested in learning as much as possible about her disease risks. She does not have children, but would like to start a family in the near future. She came across the website of a DTC company that happened to be offering a special deal on their genetic screen to celebrate DNA Day. So, she and her sputum took the plunge.

The results were a mish-mash of not-particularly-helpful information such as a slightly higher risk for diabetes, slightly lower risk for cardiovascular disease, wet ear wax, and curly hair (which hung plumb-straight to her shoulders). But she didn’t call me to discuss her ability to smell asparagus metabolite in urine. Instead, right there,  nestled among the results of her Measure of Intelligence and her Longevity, was a deleterious BRCA mutation.

What does this mean, she asked me over the phone? I suggested she make an appointment with me or, if she preferred, she could ask the DNA testing company if they had certified genetic counselors on staff who could work with her. The company offered her a list of genetic counselors in her area, but did not themselves employ genetic counselors.  A few days later, she was in my office.

Creature of habit that I am, I began with a pedigree, but no matter how hard I shook the family tree, the only cancer that fell out was a late onset prostate cancer in a distant relative. Not surprisingly, one side of the family contained very few females. She peppered me with questions about cancer risks, screening, and prevention. She took it all in, duly taking notes and asking appropriate questions. Although the cancer risks were concerning to her, she was reassured by the availability of options to reduce her cancer risks or to improve the chances of detecting breast cancer at an early stage. She was not ready at this stage of her life to make surgical decisions. She had alerted her family to her results, and they planned to have a family meeting after she had met with me to discuss what they would do next. In short, it went pretty much like your average BRCA Positive Informing Session. She was quite satisfied with her dealings with the DTC company, and was planning on encouraging others in her social circle to consider testing as well. I sensed no significant emotional distress beyond what you would ordinarily expect.

The lab is CLIA-approved, and out-source the BRCA Ashkenazi Panel to a well-known lab. Although the patient was concerned that sputum was not as accurate as blood, I assured her that I saw no need to repeat her testing unless she wanted independent confirmation for her own peace of mind. But this would cost her about $600, and since there was no family history of cancer, it would not be covered by her insurance. The DTC lab charged her far less than that, and in her view, she received more information for less money.

For Zoe, DTC testing was a very positive experience. She received valuable information that could very well wind up saving her life. With no family history of cancer, she would not have started breast cancer screening for nearly another decade, and would likely otherwise never have pictured a risk-reducing salpingo-oophorectomy in her future. As an aside, I think it is a forceful example of the potential advantages to offering BRCA screening to all Ashkenazi women (yes, I recognize the possible downsides and intricacies too). It also partially counters the argument that we can tell patients more from pedigrees than we can from DNA tests.

Zoe was the ideal person to utilize DTC testing. She is bright, educated, and eager to improve her health and avoid disease. She had the financial means to pay for testing and counseling (neither of which were covered by her insurer). She is emotionally stable, and the information, while surprising to her, was not particularly upsetting to Zoe or (by her report) her family. While there could certainly be long-term psychosocial issues, my gut sense was that she was not at high risk for serious problems. Of course, one could easily imagine patients who might react very differently in this situation.

My criticisms of the experience are mostly minor. The written information provided by the lab about the implications of BRCA results was fairly minimal. I tried to contact the lab to ask technical questions, but the lab’s website does not offer a readily apparent Contact Us section. It took some digging around to find a general email address, and then it took the lab 2 days to reply to me. If labs and genetic counselors are going to work together, labs need to improve their communication with health professionals. The lab rep insisted that the results were not intended for medical purposes. But, come on, BRCA results can be a matter of life and death. DTC labs need to step up to the plate and clearly acknowledge that at least some of their results have very important implications for medical care beyond telling someone to exercise more, eat less, and hold your nose when you urinate after eating asparagus.

Zoe also learned that she is a carrier for a few potentially serious genetic diseases that could affect her reproductive decisions (which she found helpful). There was also the usual collection of “Self Evident Why Did They Bother Testing For This Stuff” traits like photic sneeze response, odor detection, pain sensitivity, etc. While it is easy to make fun of these, in spirit, the information is not very different than the type of information that couples seek from sperm and egg donors when going through assisted reproduction.

We need to report our experiences with patients like Zoe as case reports and with larger qualitative and quantitative studies. We have much to learn, and it can help inform policy decisions, patient experiences, and professional debates. We should not reject DTC testing outright; there are situations where it in fact it may be quite appropriate. Until we study the phenomenon, we have no right to form extreme opinions about it. Without information, it’s a an argument, not a debate.

Genetic counselors are sensitive to the psychosocial ramifications of genetic disease. But if we insist that everyone who has a genetic test first see a genetic counselor, are  we creating an aura of specialness and mystery about genetics that can be a factor in the development of psychosocial sequelae? Should we be setting aside genetic testing from other medical tests and treating it as SOMETHING VERY SPECIAL? Perhaps for some patients, genetic testing is not such a big deal, but if we insist that it is a big deal, we might be contributing to some of the very psychosocial problems we are looking to minimize.

I would like to hear from other genetic counselors who have worked with patients who have gone through DTC testing – the good, the bad, and the ugly.

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by | July 28, 2010 · 11:52 PM

Facts, Figures and Fictions in Genetic Counseling

Genetic counselors have a love/hate relationship with numbers. We sometimes sniff with contempt at numbers , and nobly proclaim that psychosocial issues are the real business of genetic counseling. On the other hand, patients and referring physicians demand concrete answers, so we spend an inordinate amount of time  discussing statistics and risk figures. And, truth be told, hard data is less complicated to address than complex psychological issues. With numbers, as Casey Stengel used to say, “You can look it up” – but counseling requires us to use our skills to fly by the seat of our pants.

This focus on numbers has led to the particularly absurd practice of evaluating the effectiveness of genetic counseling  by measuring accuracy of patient recall.  Not surprisingly, patients often demonstrate poor recall of any but the simplest facts. Surely by now we have learned that patients are not calculating machines! Whatever information we provide passes through patients’ complicated emotional, neurobiological, and cultural filters and out the other end comes a jumbled understanding of technical information that plays out in a complex psychosocial milieu.  Yet despite their fairly consistent inability to remember much of what we tell them, patients usually make good decisions. Many researchers are at last questioning the validity of  using recall to measure effectiveness – it’s a counseling session, not a final exam, for chrissakes’ almighty.

I am relieved that researchers are developing alternative ways of evaluating genetic counseling. What intrigues me  about numbers, though, is a question that almost no researcher has asked – “Why do genetic counselors (or any health professional) choose to use a certain set of numbers when counseling patients?” It’s a given that all research studies are flawed, and therefore the numbers generated by studies are flawed, some tragically so. I would like to believe that we carefully evaluate and compare studies, and choose those with the soundest methodologies and largest sample sizes to generate risk figures for use in genetic counseling. But I am not convinced this is always the case. Let me illustrate with 3 common examples from genetic counseling practice.

1) The single most widely cited genetic counseling statistic – for at least  30 years – is the mythical 0.5% miscarriage rate of amniocentesis. This number is well enshrined in text books, journal articles, and our collective memory. It’s usually presented to patients, with some variation, as “Amnocentesis has a half-percent miscarriage rate.” This may then be followed by a statement like  “But at our center, the miscarriage rate is X” (inevitably some number lower than 0.5%), or  perhaps “More recent studies have shown a lower rate.” These “statements of fact”  are so incorrect that they border on falsehoods. First off, as I have pointed out (ad nauseum, to some) no study has ever shown a 0.5% miscarriage, period, end of story. Second, no individual center or physician knows their own miscarriage rate. The only way to determine a center’s or individual physician’s pregnancy loss rate is through a randomized controlled study within a center. This requires sample sizes – and raises ethical issues – well beyond the means of even the largest and best financed clinics. In the absence of such a study, providing a center- or physician-specific risk is biased guesswork at best, and fraudulent deception at worst. Third, while some recent studies have shown low rates of fetal loss, the very first multi-institutional US study of amniocentesis published in 1976 found no statistically significant difference in the loss rate between the amnio/no amnio groups.  The most honest and accurate thing you could say to patients is”Studies have shown that amniocentesis has a loss rate anywhere from no increased risk on up to about 1%. There is no reason to believe that this center’s loss rate is different than published data, although we lack the statistical evidence from our own center to prove that assertion”. How can you justify saying anything other than that?

2) Maternal serum screening for aneuploidy is a mainstay of patient referrals to genetic counselors. Parents are put through the emotional ringer, and make life-changing decisions based on the results of these tests. The aneuploidy risk is usually stated as a precise-sounding fraction, e.g. 1/127.  To soften the blow, we may re-state it as a “barely 1%”, or re-frame it as more than a 99% chance that the fetus does not have an aneuploidy. But no matter how you say it, the statistic itself still carries an air of truth and authority, etched in stone and handed down to us  from the Lab Gods. Yet  a single blood sample from one patient analyzed in different labs can result in very, very different aneuploidy risks from each lab. So which number is right? Which lab do we swear by and why?

3) In cancer counseling, it is common practice to assess the likelihood of carrying a BRCA or other gene mutation by using one of the many risk assessment models – BRCAPro, FHAT, PAT, BOADICEA, etc. While each model has its strengths and weaknesses, it is pretty clear that the same family, when assessed by multiple models, can wind up with very different BRCA carrier probabilities. And although the adherents, er, uh, I mean, supporters of a particular model will tout its strengths, when it comes down to it, all models perform about the same, and the models usually perform extra poorly at the upper and lower risk thresholds. Why use one number over the other? In fact, why use any number at all (other than for research purposes)?

I suspect that which numbers we use tells us more about ourselves than about any absolute or approximate reality. I think it also makes us  very uncomfortable when the pillars of truth are found to be structurally unsound; we are not comfortable “going there.” Do we use a particular set of numbers because that’s what our bosses told us to do? Because that’s what we learned in school? Because we just read an article by some respected and clever researcher, so we assume the numbers he or she uses must be pretty good? Are there deeper and subtler reasons? For example, I have argued that 0ur imperfect collective memory of the risks of amniocentesis has allowed us to construct a more palatable reason for offering amniocentesis at age 35,  a justification based on a semi-fictional medical risk/benefit assessment rather than based on the more realistic reason of economic gains of preventing births of babies with Down syndrome.

Why do you think you use the numbers you do? Share your thoughts on this, and let’s get a lively debate going.

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