Tag Archives: Genetic counseling

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.

9 Comments

Filed under Robert Resta

Tagged as , , ,

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.

10 Comments

Filed under Robert Resta

Tagged as , , ,

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?

20 Comments

Filed under Allie Janson Hazell

Tagged as , , ,

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?

4 Comments

Filed under Kelly Rogel

Tagged as , ,

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

8 Comments

Filed under Robert Resta

Tagged as , , , , , ,

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?

4 Comments

Filed under Kelly Rogel

Tagged as , , , , ,

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?

4 Comments

Filed under Kelly Rogel

Tagged as , ,

by | February 1, 2010 · 10:25 PM

Counsyl, Counselors, and Counseling

Recent discussion on the NSGC listserv – and an article in the NY Times – has centered on the policies of Counsyl, a private lab that offers carrier genetic testing for more than 100 mendelian disorders.  Specimens can be submitted to the lab directly by patients, without a healthcare provider’s signature – and therein lies the rub, at least for genetic counselors.

For the moment I want to set aside discussion about the appropriateness of testing without counseling, accusations of corporate eugenics, and the ethics of direct to consumer marketing. To be sure, there are valid points to be made by both sides on these weighty issues. Instead, though, I want to critique the company’s website, and offer suggestions for resolving some of the problems surrounding on-line genetic testing.

On the surface, the website seems benign enough. The home page prominently displays the company’s values, all of which would meet genetic counselors’ approval.  Counsyl recommends speaking to a licensed genetic counselor or other qualified professional either before or after testing, with on-line links to locate one. Virtually all of the conditions they test for are serious, with none of the trivial traits like earwax type and eye color that some labs screen for. The site provides information and resources about the diseases (most of which challenge my store of clinical genetics knowledge). The test is reasonably priced and uses saliva rather than blood.The company offers financial aid for those who cannot afford testing, and offers to work with non-profit groups and NGOs.

But for all its dispassionate presentation of numbers and information, the website subtly manipulates consumers and could play on their fears and guilt. Let me highlight a few of my areas of concern; you can probably find a few more on your own.

  1. “Each year millions of healthy parents are taken by surprise when their children are born with life threatening disorders” the site proclaims.That may be true globally, but most readers will use their own country as a frame of reference. Of the 4 million plus babies born in the US, the number born with the tested conditions is probably in the thousands. Certainly a sizeable number, but several orders of magnitude less than the website proclaims.
  2. For all diseases, the site provides data on carrier frequency but not disease frequency. 1/28 – the cystic fibrosis (CF) carrier frequency – sounds a lot scarier than the disease frequency  of 1/2300, and far more frightening than telling an untested couple they have a 99.9% of NOT having a child with CF.
  3. Hispanic/Latinos are said to be at increased risk of having a child with CF: “Two diseases are particularly prevalent among Hispanics: sickle cell disease and cystic fibrosis.” Yet the CF carrier rate cited for this population is 1/46, which is roughly half the carrier rate of Northern/Western Europeans.
  4. Of course, what parent would not be tested for a condition that can be cured or treated? The company claims that the testing can be “life-saving” and that “many treatment options exist” – then offers the following treatment options: preimplantation genetic diagnosis, sperm/egg donors, mental preparation, watchful waiting, and early childhood treatment.  Four out of five of these options have nothing do with treatment. And the vast majority of the diseases in question have no cure; treatment is usually symptomatic not preventative. Although PGD and sperm/egg donation is an option for a few couples, prevention really means abortion of affected fetuses. I could not find the word abortion anywhere on the site, though I did see a reference to “reproductive intervention.”
  5. The test is said to be 99.9% accurate. It would be more appropriate to say that the test is 99.9% accurate for the specific mutations that are being assayed. However, I suspect that samples are not being screened for all mutations at these disease loci, just the most common (I could not find an answer to this on the website).
  6. The website does not indicate that many newborns are already being screened for some of these conditions. And in the  site’s discussion of thalassemia, there is no mention that virtually all pregnant women are already screened reasonably effectively and cheaply for carrier status of this disorder with a CBC at their first prenatal visit.

I do not mean to imply that Counsyl is an evil or sub-standard laboratory. They are likely very sincere and dedicated in their desire to help people. Being a for-profit lab, though, their marketing needs to be aimed at, among other things, maximizing income.

We can sit around and tut-tut about on-line genetic testing. But like it or not, we are probably going to have to learn to live with some form of it. I therefore offer two suggestions to help us and our patients approriately utilize testing resources.

First, the National Society of Genetic Counselors should form a Laboratory Advisory Committee. For a fee, this committee would review a lab’s website and policies. If the lab passes muster, the lab can proclaim itself “NSGC Approved”. This could generate income for the NSGC, and allow us all to feel more comfortable if patients utilize approved sites. Obviously, the potential for conflict of interest and legal vulnerability is enormous, but this is a difficult – not an insurmountable – problem.

Secondly, genetic counselors need to conduct research to determine the validity of our concerns about on line testing and direct to consumer marketing. Is the medical and psychosocial harm as great as we expect? Some large studies such as the Scripps Genomics Health Initiative are under way, but it will be 15-20 years before this study is complete.  No doubt each of us can provide anecdotes that support our contentions, but these prove nothing. We need to collect data, figure out what it is telling us, and move forward from there.

We can point our fingers at on-line testing – or we can use our fingers to point the way.

__________________________________________

Post: See Laura Hercher’s take on the topic here.

9 Comments

Filed under Robert Resta

Tagged as , , , ,

by | January 26, 2010 · 12:03 AM

Testing Your Limits

We genetic counselors take great pride in our role as patient advocates. Everyone is equally deserving of our best professional skills and unbiased support. Rich, poor, immigrant, homeless, transgender, disabled, non-English speaking …. we like to think that none of it makes any difference. We give them all our best non-directive shot.

On occasion, though, we encounter a patient who compromises our desire and ability to provide unbiased, empathic care. This may stem from subtle counter-transference issues, like the patient who evokes your ex-spouse or a client who is overly demanding and obnoxious. With professional growth and supervision, we can learn to deal with such situations.

But eventually you find yourself with a patient who makes you stop and say to yourself “You know, this one is crawling under my skin. I’m not sure I can be a good genetic counselor for this person.” Let me give a (hypothetical) example of patients who might evoke such deep feelings.

Osama bin Laden and Ayman al-Zawahiri, the two leaders of al-Qaeda, are arguably America’s greatest and most reviled enemies. Both men also have families. One of bin Laden’s 22 children, Abdul Rahman, was born with hydrocephalus (1/22 is approximately equal to the semi-mythical 3% risk we are so fond of quoting to our patients; congenital anomalies blindly cross all religious and ethnic boundaries). bin Laden flew his son to the UK for treatment, but declined a shunt, and instead chose to treat him with honey, a common folk remedy in the Arabic world.  al-Zawahiri ‘s fifth daughter, Aisha, had Down syndrome, born after nearly 20 years of marriage (the effects of advancing maternal age also are oblivious to culture and creed). Aisha died at age 4 of exposure to freezing temperatures the same night her mother was killed in an air raid as the family fled Afghanistan during the early days of the war.

What if one day you walked into your office and there sat either bin Laden or al-Zawahiri, seeking your clinical help? Could you dispassionately provide your best genetic counseling skills to these men? I, for one, would have a hard time. But our ethical system only works when it works for everyone, not when it is selectively applied.  Lawyers know this well, and that is why they defend even the most evil criminals.

The example is admittedly extreme and, not least of all, unlikely.  However, the information about bin Laden’s and al-Zawahiri’s families is neither fictional nor a wild Internet rumor; it is taken from The Looming Tower, Larry Wright’s superb Pulitzer winning book about the rise of al-Qaeda. I use the example to illustrate the point that we all have our limits, but those limits may be very different for each of us.

Which patients challenge your ability to provide genetic counseling? Would you be deluding yourself if you believed that your ability to engage all patients knows no limits? I encourage you to leave comments below – I am interested in hearing your thoughts and experiences.

8 Comments

Filed under Robert Resta

Tagged as , ,

by | December 14, 2009 · 6:17 PM

Practicing What We Preach: Genetic Counselors, Disability, and Advocacy

Disclaimer:  I do not consider my deafness a disability, however, society defines it as a disability.   Therefore, I utilize quote marks and refer to it as “disability.”

As genetic counselors we are trained to respect and advocate for patients.  We are also trained to not to make pre-assumptions about their strengths, skills, and weaknesses.  Our training doesn’t always seem to apply outside of the counselor-patient setting.

As a deaf person, I knew it would be a difficult journey when I first applied to genetic counseling programs.  Little did I know how difficult it would be as a deaf person to find my place in this profession.  Genetic counselors learn about many different genetic conditions and work with many people who have various genetic conditions.  Oftentimes these genetic conditions fall under the category that society labels “disabilities.”  Even though I do not consider myself to have a “disability,” other genetic counselors sometimes took a different view.

Here are just a few of the barriers I have faced in this field because of my deafness:

  • I have been rejected from genetic counseling programs solely because I was deaf.
  • When I was invited for interviews for genetic counseling programs, I didn’t always have an interpreter available for the whole interview.
  • I was told by rotation supervisors that deaf people should not be genetic counselors.

The list goes on and on but my personal struggles are not the main focus of this post.  I just used some of my personal experiences to serve as examples.

Fortunately, these attitudes are not universal among all genetic counselors.  I have had some positive experiences during my brief career.  For example, I have never had people advocate for me as much as some groups within this field have.   It wasn’t until I started graduate school that, for the first time in my life, I truly felt like there were people out there who did want to see me succeed and were willing to go out of their way to advocate for me.

The barriers I have faced within this profession has made me question how genetic counselors truly view people with “disabilities.”  It has made me question if genetic counselors feel equal or above their patients who have “disabilities.”  Do genetic counselors serve as advocates because of some sort of deep need to help “poor unfortunates” or do they like being in the helper role and not because they truly want to see their patients be successful?  This is a very difficult question to ask of the profession and of ourselves.

I am playing the role of the devil’s advocate here.  This is not intended to be an attack against the genetic counseling profession.  Rather this post is intended to hopefully encourage genetic counselors to question why they may advocate for a person if they’re a patient but not if they’re not a patient.  What does it tell us about ourselves? Why does it appear that the role of serving as advocates have boundaries?  Where are those boundaries?  Should there even be boundaries?

Does it mean society’s attitude towards people with “disabilities” is so powerful and ingrained in us that we have to be specifically trained how to advocate and be on neutral grounds when counseling patients?   Does it mean our training is not good enough for it to cross over in all other aspects of our profession?

Is it that “disability” seems to go hand in hand with being a patient and it’s hard to separate those two?  Is it time to change our perspectives of people with “disabilities” to more than just patients?

I know it is possible for genetic counselors to pull together and advocate for other people.  My question is why doesn’t this happen on a more consistent basis?

Do genetic counselors need to analyze their perspectives on “disabilities” more thoroughly?  How can this be done?  I would love to see this profession become more welcoming to those with “disabilities” instead of constantly questioning their ability.  Oftentimes what one may see as a “disability” is that person’s strength.

I have seen this profession make attempts to make this field more diverse.  Usually diversity is thought to include people from different socioeconomic, ethnic, and religion background.  Why can’t diversity include people with “disabilities?”

I have learned so much from people within this field who have pulled together to advocate for me when the profession tried to work against me.  I want to make this field more accessible to people with “disabilities.” I want to pay forward what I have been given.

I genuinely want to hear your opinion regarding this topic.  It’s the only way I can start to understand why there are so many barriers within this profession and why we only seem to apply our training in certain settings (e.g. patients vs. professionals).

Changes won’t happen until we understand.  To understand something, we need to explore and question things.

15 Comments

Filed under Kelly Rogel

Tagged as , ,