Category Archives: Jessica Giordano

by | February 16, 2012 · 11:15 PM

Why We Love Genetics: A Group Post by The Staff of The DNA Exchange

We suspect that many genetic counselors out there got hooked on genetics by an intriguing bit of information, something that grabbed your attention and made you say “Hey, that’s pretty cool. I want to learn more about this field.” Sure we all want to help people and be good counselors, but the intellectual stimulation of the complex field of genetics also plays a critical role in keeping the spark in your career relationship.

So, in a slightly belated Valentine’s Day posting, we wonks and nerds here at the DNA Exchange (well, there is no “here” here, just 5 of us who email back and forth on an irregular basis) decided to provide some Genetic Factoids that caught our fancy. They include the profound, the moving, the questionable, the near sensationalist, and some gee whiz stuff. Be stimulated by them, have fun with them, and in the Comments section, share your fave facts about genetics with our readers.

♥ During the course of mammalian evolution, the RNA of  retro- and other viruses have become integrated into host genomes, thanks to that clever devil of an enzyme, reverse transcriptase. Currently about 8% of the human genome is derived from these viruses. And these are not just inconsequential inert bits of DNA. Some viruses play a critical role in mammalian biology. For example,  the HERV-W retrovirus plays an important role in placental physiology, and, by one estimate, 0.4% of human genetic diseases are the result of insertions of Alu elements of retroviral origin. On top of that, about 90% of the cells in the human body are not actually human, as we are inhabited by a large populations of bacteria and other microbes (biology makes for strange bedfellows). Among other things, this calls into question just how much we are defined by “our” DNA, as well as  how we delineate the borders between species. It also makes me smile about our growing obsession with germophobic practices. (Horie M, et al. Endogenous non-retroviral RNA virus elements in mammalian genomes. Nature , 2010, 463:84-7; Ryan F.  Human endogenous retroviruses in health and disease: a symbiotic perspective. J R Soc Med, 2010, 97:560-5.; Katzourakis A, Gifford RJ. Endogenous viral elements in animal genomes. PLoS Genetics, 2010, 6(11):e1001191)

♥ The largest mammalian gene family has nothing to do with placentas, fur, intelligence, or  behavior. Instead,  the award for body system with the most DNA devoted to it goes to the olfactory system. Three percent of the human genome codes for olfactory receptors, more than the combined total of genes devoted to immunoglobulin and T-cell receptors. The smell of love is in the air, we have the genes to help us detect it, and Chanel takes advantage of that. (Shepherd GM  Neurogastronomy: How the brain creates flavor and why it matters. 2011.  Columbia Univ. Press)

♥ During the early 1990s, two out of three of deaths among men with hemophilia were the result of AIDS related complications, the majority of which were young men who had acquired the virus during transfusion treatments. In 2009, about half of all people diagnosed with hemophilia in the United States were infected with the Hepatitis C virus. One disease’s cure is another disease’s cause (vide infra, PKU) (Committee Reports, 111th Congress (2009-2010), House Report 111-220, Departments of Labor, Health and Human Services, and Education and Related Agencies Appropriation Bill, 2010.;  Soucie JM et al. Mortality among males with hemophilia: relations with source of medical care. Blood. 2011. 96:437-42.)

♥ In the United States in 2009, there were as many babies exposed to maternal PKU as there were babies born with PKU. Given the inadequate funding for follow-up of patients who have genetic diseases detected by newborn screening and the potentially harmful effects of maternal PKU, the benefits of PKU newborn screening in preventing developmental disabilities hang in a delicate balance. It also makes one wonder what surprises the law of unintended consequences holds for expanded newborn screening (vide supra, hemophilia). (Resta R (2012) Generation n + 1: Projected Numbers of Babies Born to Women with PKU Compared to Babies with PKU in the United States in 2009. Am J Med Genet (in press).)
 

♥ A study of 194 DNA exonerations of criminal convictions found that witness/victim misidentification was a factor in 75% of wrongful convictions. False confessions were obtained in 30% of the cases, and jailhouse/government informants played a role in 22% of false convictions. Invalid forensic science testimony played a significant role in wrongful convictions, including serology (38% of cases, mostly blood, saliva, semen, and vaginal fluids), hair comparisons (22%), fingerprinting (2%), and bite mark analysis (3%) (And CSI make it look so easy and objective). Of exonerees, 58% were African American, and 43% of crimes were classified as cross-race (i.e., a perpetrator of one race committing a crime against a victim of a different race). DNA  plays a critical role in the legal system. Still, I am shocked by proposed state laws that require collecting DNA at the time of arrest (not at the time of conviction). (Hampikian G, et al.  The genetics of innocence: Analysis of 194 US DNA exonerations. Ann Rev Genomics Hum Genet. 2011. 12:97-120.)

♥ About 8-9% of dizygotic twins are the result of more than one coition and 1/400 dizygotic twins born to married white women in the US are bipaternal. Some people are very romantic. ( James WH. The incidence of superfecundation and of double paternity in the general population. Acta Genet Med Gemellol (Roma).1993. 42(3-4):257-62.)

♥ Elizabeth Taylor’s thick eyelashes were the result of a mutation in FOXC2, which can cause lymphedema-distichiasis syndrome (though she did not appear to have “photo”-phobia). (Elizabeth by J. Randy Taraborrelli, Grand Central Publishing, 2006).

♥ Because of a mutation and in-breeding, the town of Sao Pedro, Brazil has a 10% rate of twinning. Most of the twins have blue eyes and blond hair, which had raised suspicions that the unusual number of twins was the legacy of some peculiar science experiment by German ex-pat in hiding Josef Mengele (Nazi ‘Angel of Death’ Not Responsible for Town of Twins,  New Scientist, January 27, 2009).

♥ Levels of gene expression for genes involved in fighting infection are lower in people who are lonely, according to researcher Stephen Cole (Ah, yes, but the lonely suffer less from heartache).(Cole S. et al., Social regulation of gene expression in human leukocytes. Genome Biology, 2007, 8:R189).

♥ In a study by Muscarella and Cunningham, males and females viewed 6 male models with different levels of facial hair (beard and mustache or none) and cranial hair (full head of hair, receding and bald). Participants rated each combination on 32 adjectives related to social perceptions. Males with facial hair and those with bald or receding hair were rated as being older than those who were clean-shaven or had a full head of hair. Beards and a full head of hair were seen as being more aggressive and less socially mature, and baldness was associated with more social maturity.Of course, social maturity is very difficult to measure in men. (From: http://en.wikipedia.org/wiki/Baldness; Muscarella, F. & Cunningham, MR. The evolutionary significance and social perception of male pattern baldness and facial hair. Ethology and Sociobiology, 1996, 17 (2): 99–117. doi:10.1016/0162-3095(95)00130-1).

♥ If you were to recite the ATCG sequence in your own DNA (which is 3 billion bases pairs long) and uttered 100 ATCG sequences per minute without taking a break for sleeping, eating, or drinking, you would speak for 57 long years. Not so helpful for maintaining close relationships.

♥ 1000 cell nuclei could be squeezed into a period mark at the end of a sentence. (http://www.geneplanet.com/the_abcs_of_genetic_analysis/interesting_genetic_facts)

♥ A report in Scientific American in late 2011 looked at the websites that were most commonly linked to by science-lovers on Twitter. There are several flaws inherent in the “study design,” but regardless it is interesting to note that Genetics and Astronomy were very closely linked: meaning people who linked to Astronomy articles & content were more likely to also link to Genetics content and visa versa (Hey there Genetic Counselor, you with the stars in your eyes). Other interesting correlations included Physics and Fashion as well as the fact that Chemistry appeared to be an outlier, not being linked to any other science.
♥ In terms of heritability versus shared environmental effects, genetic factors account for 50-64% of an individual’s right-wing authoritarian attitudes with 0-16% due to shared environmental effects, while genetic factors account for approximately 54% of an individual’s extraversion, 49% of their conscientiousness and 57% of their openness with no appreciable shared environmental effects. (Bouchard TJ. Genetic Influence on Human Psychological Traits. Curr Dir Psychol Sci. 2004;13(4):148-51.)

♥ And, of course, let us never forget The Jumping Frenchmen of Maine.

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by | April 4, 2011 · 11:27 PM

Behind the scenes decision-making: Choosing labs

GeneTests currently lists 593 laboratories testing for 2,305 diseases —  2,040 clinically based and 265 research based. Check out their chart of lab and test growth over the years 1993-2009.

With this exponential growth of labs and tests with various panels offering different sensitivities for different conditions, how does one choose a lab and how does one choose certain panels over others? In my primarily prenatal role in an academic university hospital, genetic testing is very accessible to my patients as there is patient interest, insurance coverage, and private monies to really make it happen. So, access is no longer the primary issue I deal with and the patients look to me as their genetic counselor to determine which lab offers “the best” test that is most up-to-date. How quickly do we modify what we offer? How does your center choose and vet which labs to use?

Labs are always sending out notices of new panels, sending representatives to educate us about their tests. But, how quickly do you start offering a new panel once you have been educated about it?

Here are some things I think seem to dictate how I choose a lab, in no particular order:

1. What is the sensitivity and specificity of the test?

2. Does the lab provide pre-verification of insurance benefits?

3. Is the customer service accessible and available to strategize regarding the testing plan i.e. are there genetic counselors and laboratory directors that I can speak with?

4. Does this lab have a great deal of experience working with this gene or disease?

5.  How quickly do they report their results? Will they expedite prenatal cases?

6. Is the format of their reports accessible?

7. Do they have educational materials about their tests for providers? For patients?

8. Are there logistical shipping issues/costs?

9. For NYS, do I need a permit?

All these things weigh differently in every case, depending on the needs of the patient. But, patients do not always know what is out there or what they need – it can become our job to make the best laboratory choices to fit their needs. Sometimes, this is a challenge for me. And sometimes, I feel like a laboratory sales representative.

It seems to me that if we do not offer a test, it essentially does not exist to a patient. Sometimes patients do not know they want a test out there simply because they do not know about it.

So, when a new panel of tests comes out, how does your center decide what to offer the patients? Is there a departmental debate? Does it have to meet certain internal requirements?

When faced with a handful of lab options sequencing the same gene, how do you chose the lab?

Please share you thoughts and strategies regarding this. I am truly very curious.

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by | July 9, 2010 · 2:58 AM

“Traditional versus Non-Traditional” ?

To be honest, I really dislike that phrase.

Related to Allie’s recent and timely post as well as my own recent job change, I have been thinking about “traditional versus non-traditional roles”. This phrase sometimes feels like code in “Genetic Counselor Speak” for seeing patients versus not seeing patients, or , employment in a genetics clinic in some capacity versus some engagement with genetic testing companies/interpretation of testing (admittedly, research counselors seem to fall somewhere in-between).

Non-traditional roles always seem to focus on the “genetics” side of being a genetic counselor, but there is little discussion regarding non-traditional roles related to the “counseling” side of being a genetic counselor.

Perhaps this is because GCs see some degree of counseling as intrinsic to the “traditional” model. Perhaps this focus on the genetics side is because there is little pay or other tangible incentive to take a counseling-centric approach. Perhaps it is primarily because we are not as well-trained to take on the more intensive, long-term counseling roles some patients made need as we are trained to take on the more intensive genetic interpretation roles. Perhaps many genetic counselors have less interest in this side of our field.

But, there is no doubt that the current emphasis in clinical genetics and genetic counseling is on factual information, patient education, patient autonomy, and yielding a profit (understandably) and NOT on therapeutic counseling. There is often less time to focus on the counseling side of our work unless you work extra hours, which leads to increased risk for burnout along with a decreasing ability to connect with patients and even coworkers. However, I think there is an alternative niche out here for us GCs with an interest in this type of “non-traditional” role. I think there is another way for GCs to remain interested in their work and grow.

I have been fortunate enough to feel that I frequently form a strong/meaningful patient-counselor bond and I do tend to derive a great deal of satisfaction from this, in both settings I have worked. But, I worry about burnout…I worry my abilities may diminish over time, or, equally scary, not improve without additional support.

Because I want to be as engaged and productive as possible in all areas of my life (as most of us want) without burning out, I can’t help asking myself the cliché question:

Do I work to live or live to work?

I think many genetic counselors face this question as the demands of “traditional” genetics roles become overwhelming and tiring (ordering and coordinating testing, keeping up on new trends in genetics, administrative tasks, insurances, attention to varied patient needs, etc, etc, etc..)

I do not want to live by either mantra above. I want my work to be meaningful, thought provoking, and impact others in varied ways. I want to be engaged with my work. At the same time, I do not want to work to be only defining factor to who I am or control my ability to engage in other interests, relationships, hobbies, travel, [insert your interest here]. I think the increasing demands on genetics departments from a genetics point of view can make it harder to find a satisfying work-life balance, particularly when it has been shown that the greatest deal of satisfaction from work often comes from the personal meaning we can find in our patient care. See quote from Genetics in Medicine in 2009:

We show here that increased “personal meaning in patient care” is inversely related to distress and burnout. Increased meaning may be derived by forming strong connections with patients. Such connections are fostered through bearing witness, which has been described by Naef as a fundamental process of “being there and being with, listening and attending to, and staying with persons as they live situations of health and illness, shape their quality of life, search for meaning, struggle to make difficult choices, and experience intense moments of recognition, fear, joy, and sorrow. (“Distress and burnout among genetic service providers” in Genetics in Medicine Volume 11, July 2009)

My recent silence on the public side of this blog has been partially related to some sense of disillusionment and internal confusion about where this profession is heading, where my own career is heading, and how much control I have over that in light of the economy and demands on genetics departments (perhaps common concerns to many GCs these days). When I hear or read someone is moving into a “non-traditional role” I get a little worried – where is the space for a “non-traditional” role that allows for more in-depth analysis with patients of the issues and implications of hereditary disease on people’s lives and families? Where is a role for me when/if I get “burnt-out” from the “traditional roles” of a GC in a genetics clinic?

Burnout and work-life balancing are big issues in many professions, but I wonder when and how often other GCs are feeling this strain. I wonder how many other GCs see furthering their counseling skills as another opportunity for a “non-traditional” role.

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by | January 22, 2010 · 10:13 AM

A less common motivation for prenatal diagnosis

As I explore a woman’s capabilities and values in decision making regarding pregnancy and testing, I sometimes uncover unexpected underlying motivations for the genetics consultation. One area that intrigues me and is not often discussed (if at all) in the literature is the desire for what is typically deemed a “poor” outcome.

I believe it is integral for the prenatal genetic counselor to understand the circumstances surrounding a conception – was this a desired pregnancy? Did it take a long time to conceive? Is the patient ambivalent about the pregnancy? There are times when I have I realized a pregnancy was unplanned and the patient did not wish to continue the pregnancy, but did not feel comfortable with abortion or an adoption plan.

To such individuals, prenatal diagnostic procedures can be the beacon of hope, the ticket to diffusion of responsibility. If a miscarriage occurs as a result of the procedure, the patient can take comfort in the justification that she was testing to ensure the health of her pregnancy and that the miscarriage was beyond her control. If a diagnosis of a chromosomal issue is made, the patient can feel further justified in pursuing an abortion feeling she does not want to bring a child into the world who may experience undue suffering.

If a patient desires a procedure because she has a hope it will increase her odds for miscarriage or the diagnosis of an anomaly and thus, facilitate a more passive act than actively terminating a healthy pregnancy, do you feel the procedure becomes unjustified? In medical world where (gratefully) diagnostic procedures are offered to everyone and termination is available for any reason, I believe the answer is no. But it is a key moment in counseling to explore the meaning/implications of the pregnancy for the patient and the ramifications of both a healthy or atypical outcome after diagnostic testing.

The genetic counseling relationship must extend further in this case when a diagnosis of a healthy fetus with 46 chromosomes is made just as it would when a diagnosis of Trisomy 18 discovered. The genetic counselor must continue to engage in the decision making process regarding the pregnancy, and if she uncovers psychological defenses and processes that are too complex for the GC to work through, she must refer to a social worker/appropriate counselor. Remember, the quality of a decision is often a function of the decision process itself more than outcome. I think if a patient can look back on a decision and feel she spent a great deal of time considering her values, beliefs, and desires, she can feel more comfortable with her choice whether it be to continue, terminate, or make an adoption plan. We can not simply inform the patient the results are “normal” and move on.

We often think about prenatal diagnosis in terms of the quest for the perfect child, the reassurance of a healthy child, the ability to prepare for a child with special needs, and the availability of making decisions in favor of termination the face of a difficult diagnosis. Often prenatal diagnosis is tied to a desired pregnancy where there is parental desire to feel some degree of control over their and their child’s future. But what I am thinking about is in opposition to this, an undesired pregnancy where there is parental desire to have little control over the outcome, to be in a situation where the individual does not wish to bear the burden/responsibility of making a decision against continuing a pregnancy. We must also remember that this all may backfire on the patient if a miscarriage really does occur or if a prenatal diagnosis is actually made. The patient may then begin to feel a great deal of responsibility, remorse, guilt, and shame that was unexpected. You have to be prepared for this as well.

We all make decisions hundreds of times a day that we are not conscious of, not challenged by. Sometimes decisions about prenatal diagnosis appear to clear cut and our patients may even describe them in this way. But we must be astute enough to recognize when this is not the case and engage the patient enough to openly talk about her thoughts and help her anticipate the myriad of potential genetic and emotional outcomes. And we must be prepared to effectively make appropriate referrals when the patient’s psychological dynamics are too complex for our training to unravel and assist.

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by | November 6, 2009 · 11:59 AM

Professional Certification Debate

I wrote on this blog earlier regarding anxiety surrounding the new ABGC certification exam. To my personal relief, I found out this week that I am amongst those who passed. However, I cannot help but wonder how the passing score was determined and what this new exam means for our profession. What does a passing score on this paricular exam really tell employers, doctors, and patients? Question-Marks

I have spoken to a number of counselors who felt the exam was not focused enough on the genetics that we have worked so hard to become beyond competent in. While I have many thoughts and concerns about the meaning of this exam and its impact on future of the profession, I am going to await further explanation from the ABGC before I write on this more.

If you want an excellent summary of the ongoing discussion amongst genetic counselors about the validity of the exam and results, please check out the blog authored by SLC graduates Sarah Savage and Catherine Clinton:

http://gcqc.wordpress.com/

I am particulary interested in how the previously certified counselors feel about the use of this new exam. Please leave your comments here or at the above named blog.

ANOTHER THOUGHT:  Maybe we should consider moving foward with a general genetic counseling exam and then have subspecialty GC exams i.e prenatal, cancer, metabolic, pediatrics, etc..so we can show where we have special genetics knowledge? Similar to the way in which the ABMG grants their certifcation to biochemical geneticists or cytogeneticists. THOUGHTS?

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by | October 16, 2009 · 6:53 AM

Interpretation, Declined.

The important and challenging task for the language interpreter is to find a balance between active and passive involvement, understanding what is happening while attempting to interpret, word for word, what is said.globe

Many interpreters accomplish this fairly well and I do not often believe they are actually influencing my patients in any particular direction for or against prenatal testing, terminations, cancer testing, etc. But, recently, an interpreter declined continuing because my French speaking patient from Africa and I were discussing abortion. The interpreter hung up, “exercising her right to decline continuing”.

After 30 minutes of rapport had been built, everything went into limbo for 10 minutes as I worked to find a new interpreter. I do not know exactly what the patient was thinking in those 10 minutes, but my thoughts went something like this…

“What kind of question did the patient ask that finally made the interpreter uncomfortable? Does my patient feel judged by this 3rd party who is probably sitting in her cozy ‘interpreter chair’?! I am angry! Don’t they screen for personal beliefs when they sign up people up for this service?! I am going to black list this interpreter from ob/gyn services…Wait, I have to focus on the patient’s reaction..”

I composed myself and apologized profusely to the patient. She was gracious and reiterated her question to our new interpreter. I heard, “Would the hospital be supportive of a decision to terminate a pregnancy with Down Syndrome?”

Clearly, the interpreter would not be.

But the interpreter is not actually a part of the hospital. That is known to me, but not necessarily to the patient. We spent some time clarifying the mixed signals the patient was receiving. The patient eventually decided to decline further prenatal screening. Did the interpreter influence her decision?

I could not survive my prodigiously diverse hospital setting without the aide of the language line. I have been suspicious that some interpreters are not translating word for word. I even hang up if I am uncomfortable with the interpreter’s style. However, this scenario forced me to further question whether or not the service actually influences the patient’s decision making.

A conference this weekend regarding medical decision-making published an abstract about this issue and the authors say:

“Common challenges were additions, omissions and modifications in terminology resulting in miscommunication of clinical and cultural concepts, and ethical concerns during conflicting values between providers, interpreters and patients.”

How do we overcome this? Can we? If we start using computers to translate for patients and providers, we would lose some of the essential humanness that great interpreters provide i.e. using a more compassionate voice when the room is full of tears, recognizing when a patient is lost and asking to rephrase.

As a genetic counselor, my primary goal is to facilitate informed decisions rooted in self-understanding. This often requires a non-directive and supportive environment. Anyone who assists us must have this goal as well. I implore interpretation providers to assess your beliefs before becoming involved in cases that might be morally offensive to you.

There is little worse than negative judgment when you are most vulnerable. Ask the patients. Ask yourself.

Please share your thoughts about the influence of language providers on your patients. I am reminded of “The Spirit Catches You and You Fall Down”. Maybe I should revisit this book, other suggestions?

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by | August 21, 2009 · 9:11 AM

200 Hurdles to Freedom

When commenting on this post, please keep your specific thoughts about the exam private and do not share publically. I have been advised by the ABGC that sharing information about the exam may be punishable by law and result in the revocation of one’s certification or right to sit for future exams.

There are a few hundred genetic counselors out there, including myself, who are on their last lap before the 200 ABGC approved questions that will determine if they are certifiably qualified to practice genetic counseling.

Apparently, none of us feel being a “master” is enough.

With this summer heat and pretest anxiety, many of us might be feeling like this guy did for 8 years – Am I really prepared for this? Do I know what I am doing? What will my legacy be in regards to this long endeavor?

I think this is  a good time to remind ourselves of the utility and value of this exam. (And, of its intrinsic meaninglessness in the grand scheme of life.)

For those of you who do not know, this is the first year the ABGC is offering their own certifying exam. All genetic counselors currently certified in the last 10 years or so passed the ABMG general genetics exam and the genetic counseling subspecialty exam. Since the ABMG offers their exam every 2 years and the exam was not specifically designed for professional/clinical issues dealt with by genetic counselors, many counselors had difficulty obtaining the coveted “CGC”.

From what I understand, this has hindered legislation granting licenses to genetic counselors in many states as all proposed bills have suggested licenses be granted to those who are certified (See here for the NSGC discussion of certification versus licensure).

Licensure is a complex topic that should be further addressed here, but this is meant to be motivational (and I have to study!!!) – So here is a list of random exam-related items to consider:

1.  If you received your masters in genetic counseling, MANY people believe you are qualified to be a genetic counselor. You might be the only person who is currently doubting this. And, you are too crazed with exam fever to be a reliable source on the matter.

2.  This new exam (yes, I do feel like a knockout mouse) is based on the survey that was given to assess daily activities and skills of practicing genetic counselors and 868 genetic counselors responded. That is a large “n” ladies and gents – the items on the exam will likely (finally!) be fully reflective of what we are taught in graduate school and how we practice.

3.  Which brings me to the next thing nagging me. Can we really rely on the anecdotal information about the ABMG exam we have received from colleagues and former teachers? Is hearing, “oh, the test is often cyto heavy” or “I couldn’t believe how many ART questions they asked that year!” really very instructive?

    – As comfort, normative seeking creatures, we want to know we are “doing the right thing” as we force ourselves to study areas of genetics we know less about. We ask others and ourselves, “Should I focus on Thompson and Thompson? The UPitt review course? Memorize Smith’s? But, we ARE in uncharted ABGC territory – we do not know how to best prepare. But, BE CONFIDENT, they are going to ask questions about genetics. And you are likely to have read the answer at some point in your studying, regardless of your favorite source book.

    4.  Remember, the exam is supposedly designed to be FAIR – there are an allocated number of questions for different areas (check out the exam bulletin)

    1. Case prep and History
    2. Risk assessment and diagnosis
    3. Testing
    4. Psychosocial assessment and support
    5. Ethical, legal, research, resources.

    If you were an exam writer, you would imagine there are certain things you want to be sure every GC knows (carrier screening issues, testing minors, survivor guilt…) in each of these areas. You know this stuff!

    5.  When you finish the exam, you can do the following guilt free:

    1. Nothing
    2. Eat cookies, cheese, candy…(because you now have time to exercise)
    3. Take a vacation
    4. Get a pedicure
    5. Jump on your bed (I encourage you to do this before the exam too)
    6. Read ANY book you want
    7. Go out very, very late
    8. Play Pretty, Pretty Princess with your kids (or other people’s if it is not creepy)

    6.  When you find out you PASSED –

    1. You can give yourself as many gold stars as you want
    2. You will receive increased respect from colleagues and patients (and yourself)
    3. Maybe you will get a raise and/or promotion
    4. You will have increased job mobility
    5. Maybe you will open up a private GC practice
    6. You might have the option to be licensed
    7. You can throw out your graduate school notes!

    7.  If you find out FAILED (less likely to happen)

    1. You are still a MASTER and likely still have your job
    2. You can take the test again in 2010 (that is novel!)
    3. You will NOT be a guinea pig on the next exam and will be better informed
    4. You can apply for a new career – that is exciting too!

    If anyone wants to post random disease factoids here or thoughts about the exam, please do.

    However, keep it ethical. Do NOT share any information about the actual exam as it is in everyone’s interest to keep his/her exam experience private until the testing period closes.

    GOOD LUCK!!!!!!!!

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    by | June 9, 2009 · 6:32 AM

    “So, what do you do?”

    I have heard some genetic counselors say they have ‘given up’ on telling those they meet at social events that they are genetic counselors in the interest of avoiding long, tedious, and potentially polarizing Q + A sessions with their fellow conversationalist. One GC told me she simply says she is a nurse.

    Not me.

    Although I mentally brace myself for the potential complicated discussion, I am always more interested in hearing what the other’s questions and reactions will be —

    “So, you make blue eyed babies?”

    “You tell people to get their breasts removed!?!”

    “My friend was told her baby had Down Syndrome and he is now in a gifted child program.”

    As I once read, “All patients have genes!” Since we are all potential patients, bringing up the topic of genetic counseling with acquaintances, family, or even fellow subway riders can really keep you on your toes.

    At my last birthday party in a lower east side (NYC) location, I was told by a stranger who knew my profession:

    “My cousin has ectodermal dysplasia”

    Heavy stuff. Especially at 2am with Biggy playing in the background.

    It is not unusual for others to inquire about one’s profession. But, the difference is that genetic counseling conjures up difficult topics for people – underlying most of the questions are ethical and moral considerations related to the definition of what it means to be human.

    Are those typical party topics? No, but it does not mean they should be avoided.

    In fact, they should really be encouraged.

    So, how do we GCs respond? This conjures up 2 main questions for me:

    1. Do we wear our professional genetic counselor hat at all times with a non-directive counselor role, limiting the exposure of possible biases and preferences? Or, do we share some of our opinions based in our experiences and knowledge? Perhaps these are not mutually exclusive, but striking the balance might very well be an art.

    Over time and with exposure, every genetic counselor develops strong opinions, cases for which she/he has strong feelings. See below –

    The cancer patient who has >66% chance for a BRCA mutation who declines both treatment and genetic testing.

    The patient who continues a pregnancy affected with Trisomy 18.

    The patient who terminates a pregnancy affected with Trisomy 18.

    2. What is genetic counseling anyways?! I am sure we all have our media clip definition to share with our inquisitive social audiences, but sometimes I find myself wanting to gear my answer towards a particular person’s age, gender, background, etc. This inevitably leads to complicated discussions. There is certainly a spectrum of definitions regarding what genetic counseling is from the more thorough to the most simple (first hit in google). This is part of what this blog is about.

    Genetics is a field plagued (and fortunate) to have no clear answers due to the mix of science, culture, religion, ethics, disease, stigma, psychology, family dynamics and relationships, guilt…

    How to encapsulate all that in cocktail conversation without being a party stopper while still being true to my emotions and profession sometimes eludes me…

    I am cognizant that I sure don’t know what an ‘associate assistant of regional internal marketing and financial affairs’ [insert any business position here] does. Although I doubt such a professional feels as much angst and pressure to perform when asked,”So, what do you do?

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    Please share your thoughts regarding why engaging in discussion regarding our profession can be challenging. I also encourage everyone to share their humorous and/difficult social genetics stories (with respect for privacy of course).

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