Tag Archives: Genetic counseling

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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by | June 28, 2010 · 10:54 PM

The Genetic Counseling Job Search

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

Genetic Counseling: The Career of the Future

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

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

What’s a new GC to do?

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

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

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

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

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

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by | May 3, 2010 · 4:15 AM

Social Media as Support Resources

Some of you may remember a post I made a few months ago, Emerging Technology vs Old School. I discussed briefly how we have to find ways to incorporate technology into our profession in positive ways.  I also touched on how we cannot forget that there are people who do not have access to technology and they ARE getting left behind.

We cannot ignore either group.  How can we make sure both groups have access to the same information but in different ways?  This is not the main focus of this post.  I just wanted to remind readers that even though in this post I focus on resources that are more available to people who have access to technology, we must not forget that not everyone has access.

Facebooking, Twittering, and Blogging are what I think of when I think of social media.  Facebook groups can serve as support groups.  Blogs can serve as an excellent way to share thoughts and emotions.  Twitter can help connect people going through similar situations.

Since I have Google alerts set up on my Google readers I oftentimes run across blogs written by people who have experienced genetic counseling or have children with genetic conditions.  I have found that reading strangers’ blog posts about their daily life with a genetic condition and their perspective of genetic counseling has taught me so much more than I could ever learn from reading a textbook.

I get their honest opinion.  I learn how misconceptions develop.  I learn about different attitudes and perspectives.  I learn more about people’s thought processes.  This allows me to see their situation from their point-of-view which in turn helps me as a genetic counselor.  An example of a powerful blog website is, CaringBridge.

CaringBridge is a blog website that “connects family and friends when health matters the most.”

“Human connection. That’s the heart of the CaringBridge experience.”

I have read several CaringBridge blogs written by parents with children who have a genetic condition.  I have also read CaringBridge blogs written by people with genetic conditions.  I have read personal stories about how many families are thankful for CaringBridge blogs.  It allows them to share news with concerned ones without having to worry about making multiple calls.  It allows them to express personal thoughts through writing that they may not normally express which helps with the coping process.  It also allows them to find other people who are going through similar situations as they are.  It makes people feel less lonely during scary times.

If used correctly, social media could be a great support resource for patients.   Social media should NEVER replace actual information or serve as a sole resource.   They should simply serve as support resource in the same sense as recommending books and connecting patients who may be going through similar situations.

Would you (or have you) ever suggest social media as a form of support resource for your patients?   How do you make sure it’s appropriate for your patient?

Would you ever use social media as a teaching tool for yourself or for genetic counselor students?  If so, how do you do this?

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by | April 11, 2010 · 8:55 PM

The Great Genetic Counseling Divorce of 1992: A Historical Perspective On Change In The Genetic Counseling Profession

The advent of online genetic testing has spurred thoughtful and passionate debate  about the best way to deliver genetic counseling services. It is a polarizing issue with good arguments on both sides. The discussion recalls events that played out nearly twenty years ago – events that were critical to the development of the genetic counseling profession. Counselors young and old have much to learn by re-visiting this history.

In 1992, genetic counselors and medical geneticists were intertwined like the strands of a double helix. Most genetic counselors worked closely with medical geneticists. Even prenatal counselors often worked with obstetricians who were also board-certified medical geneticists. For the previous decade, professional certification of genetic counselors and medical geneticists had been overseen by the American Board of Medical Genetics (ABMG).

In 1991, ABMG petitioned the American Board of  Medical Specialties (ABMS) for the creation of an American College of Medical Genetics (ACMG).  Medical geneticists had much to gain in prestige and reimbursement by joining ABMS. ABMS agreed, with one huge provision – only doctorate level professionals could be accredited, effectively excluding genetic counselors from the deal. It felt like we were being sold out for a fistful of dollars.  How could we exist without the support of medical geneticists? Remember, this was well before the availability of other employment opportunities for genetic counselors that we now take for granted, such as in oncology, neurology, cardiology, or DNA testing laboratories. It appeared to be the end of the genetic counseling world as we knew it.

ABMG by-laws required a membership vote, and 2/3 approval from the membership was necessary for the motion to pass. Because genetic counselors made up about 40% of ABMG membership,

a united block of genetic counselors could stop the restructuring. Strong feelings on both sides made for tense moments. Genetic counselors were at odds with medical geneticists, and sometimes even with other genetic counselors. Professional relationships withered from the heated arguments. Both sides were armed with lawyers. Assets needed to be divided. It was not pretty (although the NSGC listserv is a wonderful resource, I am half-relieved it was not operating in 1992). Even now, I suspect this issue still raises ghosts of bad feelings, and some broken friendships have never healed.

When the vote finally came in 1992, ABMG membership approved joining ABMS, 977 in favor and 200 against. Fortunately, wiser heads prevailed. Ed Kloza, Ann Walker, and a few other unsung heroes negotiated a separation deal with ABMG and guided us through the birthing pains of establishing a new professional identity.

We felt like teenagers who had been kicked out of the house. Maybe our parents didn’t want us, but now we could be independent and grow up on our own. We were young and bright, with a bit of drag strip courage and a world of potential in front of us. Many genetic counselors continued to work in traditional settings and maintained close relationships with medical geneticists. But, freed from the bonds that tied us to medical geneticists, we were captain of our own ship, ready to set sail on uncharted professional seas.

The American Board of Genetic Counseling (ABGC) was incorporated in February, 1993. ABGC and NSGC are now firmly established as critical leadership organizations for genetic counselors. New employment opportunities unfolded like the wings of a butterfly emerging from a cocoon. The genetic counseling profession is now entrenched in the daily practice of medicine, and our services are sought by many medical specialties. The separation of genetic counselors from ABMG proved to be the best thing

that ever happened to North American genetic counselors.

Medical geneticists on the other hand, were more cautious. I suspect that they were still caught up in the traditional model of medical genetics service delivery and did not respond as quickly to changes in genetic technology. They are just now starting to catch up with genetic counselors in establishing working relationships beyond pediatrics and obstetrics.

Here we are in 2010 with new service models presenting themselves. As it was in 1992, our profession is torn by these issues. I do not know what the right answer is. But opportunity is knocking and asking us to take another journey with unfamiliar travelers. We can head down this uncertain path – or we can be left standing at the door.

For more on the ABMG restructuring, see:

“ABGC incorporates” Perspectives in Genetic Counseling 1993;15(1):1

Gettig B “Restructuring of ABMG: NSGC to move toward healing; vision” Perspectives in Genetic Counseling 1992/3;14(4):3

Epstein CR “Editorial: Organized Medical Genetics at a crossroad” American Journal of Human Genetics 1992;41:231-4

Heimler A, Benkendorf J, Gettig E, Reich S, Schmerler S, Travers H “Opinion: American Board of Medical Genetics restructuring: make an informed decision” American Journal of Human Genetics 1992; 51:v-viii

Kloza EM “ABMS report…evaluating the counselors’ status” Perspectives in Genetic Counseling 1992;14(1):7

Restructuring Committee “Review and update of ABMG status” Perspectives in Genetic Counseling 1992;14(2):1

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by | March 15, 2010 · 4:02 AM

Does History Shape Society’s Attitude Towards Genetics?

I visited D.C. as an undergraduate student and spent a majority of my time wandering around various Smithsonian museums.  I got to see Dorothy’s ruby slippers, Kermit the frog, and Apollo 11 artifacts.  There was one exhibit that left a lasting impression on me which was the Deadly Medicine:  Creating The Master Race exhibit at the Holocaust museum.

“DEADLY MEDICINE: CREATING THE MASTER RACE

From 1933 to 1945, Nazi Germany carried out a campaign to “cleanse” German society of individuals viewed as biological threats to the nation’s “health.” Enlisting the help of physicians and medically trained geneticists, psychiatrists, and anthropologists, the Nazis developed racial health policies that began with the mass sterilization of
“genetically diseased” persons and ended with the near annihilation of European Jewry.

To relate this history, the United States Holocaust Memorial Museum has assembled objects, photographs, documents, and historic film footage from European and American collections and presents them in settings evoking medical and scientific environments. Deadly Medicine: Creating the Master Race provokes reflection on the continuing attraction of biological utopias that promote the possibility of human perfection. From the early twentieth-century international eugenics movements to present-day dreams of eliminating inherited disabilities
through genetic manipulation, the issues remain timely.”  (http://www.ushmm.org/museum/exhibit/traveling/details/index.php?type=current&content=deadly_medicine)

The Genetics Revolution seems to focus so much on the future that we forget about the past.  Who are we to say the past does not affect us on some level?

Eugenics is, unfortunately, real.  Is this why so many people are concerned about The Genetics Revolution?

I know eugenics is a very sensitive subject but that doesn’t mean we should ignore it.   I think it is important for us to explore the history of genetics and the impact it has had on society.  I don’t know about you, but I have met several people who immediately assume genetic counselors encourage some form of eugenics.

Do you ever feel like in a sense the past is holding us back in terms of the public fully accepting The Genetics Revolution?

The reason why I’m bringing this up is because this exhibit will be visiting my town for a few months.  I hope to do a follow-up post about it from the perspective of a genetic counselor.  I hadn’t even started to apply to genetic counseling programs when I first saw this exhibit.

I also see this as an opportunity to educate the public about misconceptions that might be out there about genetic counseling.  There has been a lot of buzz about this exhibit.  I’m open to any suggestions as to how I can use this exhibit as a platform to educate the public and to increase awareness in genetics.

Thoughts?  Suggestions?  Comments?

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by | February 11, 2010 · 11:28 PM

Emerging Technology vs Old School

I don’t know about you but I have a love-hate relationship with technology.  It can make things simpler but it can also make things more difficult.  There are days where I miss old school…..you know….regular paper and pens.  There are also days where I am thankful for oodles of information available at a click.

Regardless of if you love or hate technology, we are in the middle of a technology revolution.  We  have to figure out ways to incorporate technology into our profession in positive ways.   We cannot ignore this revolution.

There has already been some resistance to the incorporation of technology within our profession.   There has been a lot of valid concerns about direct-to-consumer services, telephone genetic counseling, and online family history/pedigree programs.

Patient 2.0 is the concept where people meet online to discuss their health, clinical trials, which hospitals to avoid, which doctors to see, and treatments.  While this encourages people to take charge of their health it can be a danger if they believe inaccurate information found online.   Does Patient 2.0 do more harm than help or is it vice versa?

You can even ask healthcare questions on Twitter.  You can easily search for genetics apps on your iPhone/iTouch.  Some of these apps include; MGenetics, PubSearch, NextBio (correlated data from all public gene expression experiments), Odd Diseases: Genetics, and BioGene).  You can even listen to podcasts or genetic lectures at iTunes U.  If used correctly, apps could be developed to exposure middle and high school students to  the field of genetics.  Apps could also be developed as study tools for genetic counselors, however, we should not depend on these apps.

*Start rant:  Most podcasts and lectures are NOT captioned.  If you ever find yourself making a podcast please subtitle, caption, or make a transcript available.  THANK YOU! *End rant* 🙂

There is a new form being formed and it is a group with full access to technology.  What about those who do not have access to technology (e.g. Internet)?

Two concerns I would like to touch on:

1)      Should healthcare information online be regulated?  Should we start exploring ways to teach the public the limits of technology (e.g. don’t believe everything you read online)?

2)      It is easy to get lost in this technology revolution.  There will soon be a forgotten group.  People who do not have access to or do not feel comfortable with technology will be left behind.   How do we make sure this group will always have equal access to genetic services/information?

How can we combine the pros of both technology and old school in order to provide high quality genetic services for EVERYONE?

Thoughts?

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