by | August 28, 2009 · 12:44 AM

Label Jars….Not People

jarsAs genetic counselors we hope to make a difference in someone’s life.  Why not expand on that?  While our primary focus should be on our patients, we should also strive to utilize our skills outside of the workplace.  Not only will this have an impact on the world, it will also indirectly have an impact on our patients.  It’s a circle.

It does not have to be something that requires a lot of time, thinking power, or effort.  It can be something very simple.  There are many different ways that this can be done; this is just one example.

Labels.

You have been labeled at some point no matter who you are or where you are at in your life right now.  You have felt how degrading those labels can be.  You know first handed how it can negatively affect your perspective and other people’s perspective of yourself.  Some labels originate within the medical community.

We may use labels to communicate effectively and quickly with busy MDs.  We may have to use them in order to protect a person’s confidentiality.  However, labels should only be used when absolutely necessary.  They should not be used to form expectations of someone.  Genetic counselors oftentimes strive to use sensitive language with patients.

For instance, we may say “change” instead of “mutation.”

We try to choose neutral words when possible.  We have seen how word choices affect our rapport with patients.  I’m sure you’ve heard of the idea of making it a point that people are people first and a genetic condition is just part of who they are.  An example would be to say “people with Down syndrome” instead of “Down syndrome people.”  We should take the same sensitive approach in daily conversations outside the workplace.

This helps to prevent pigeonholing people and shows respect.

We can take what we learn from the workplace and apply it to the outside world to make a difference.  Exploring various ways to apply our genetic counseling skills outside of the workplace will only make us better genetic counselors within the workplace.  Once again, it’s a circle.

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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 | August 16, 2009 · 4:05 PM

    The Kids Are Alright: Re-thinking Genetic Testing of Children

    It seems like that would better to do that [genetic carrier testing] earlier, you know even before, just so that it was always. …. It’s like if you’re like adopted. It seems like it would be better to know you’re adopted your whole life than to just have a day when you’re 13 and your parents sit you down and tell you you’re adopted. That would be terrible. – Teenage Fragile X Carrier, quoted in a study of fragile X carriers

    A sacred and often unchallenged ethical belief in the medical genetics community is that carrier testing should be limited to adults, except in diseases like familial adenomatous polyposis where the results have implications for the medical care of young children. It is easy to take the moral high ground here – we should respect the autonomy of young people until they are mature enough to make their own decisions as adults. End of story.

    Implicit in this belief are the assumptions that teens are not mature enough to make major life decisions, and more subtly, that health professionals know better than parents what is in the best interests of their children.

    Allyn McConkie-Rosell and her co-authors, in a recent issue of the American Journal of Medical Genetics, challenge this belief with a very interesting quantitative and qualitative study of fragile X carrier testing among at-risk teenage girls. The vast majority (51/53) of these girls felt that carrier testing should not be delayed until 18 years of age if the child and family want testing. In reading the comments of these young girls, it is quite clear that teenage minds are capable of thoughtful deliberation about emotionally and medically complicated matters. The belief that teens are incapable of mature thought and philosophical complexity is at best unproven and at worst could lead to long term psychological issues among teens denied testing.

    Of course, parents or guardians should have an active role in initiating such requests. They understand their children far better than we ever will. If genetic counselors cut off parents’ requests for testing their children with “Sorry, we will not do it because it is ethically unjustifiable and against clinic policy” it will only result in angry and frustrated families. Not a very good counseling experience, to say the least. The history of professional advice to parents makes it clear that parents rather than professionals are usually more likely to make better parenting decisions.

    Sometime, though, parents will want their children tested for the wrong reasons, such as a misperception that the test results will affect medical care of their teen, or, more commonly in my experience, driven by their own guilt and anxiety about possibly having “given” a mutated gene to their children. These situations call for genetic counselors’ best educational and counseling skills to help parents clarify what is driving their requests to ensure that genetic testing is in the best interests of the parents, their children, and their families. And parent and child should both agree on whether or not to be tested.

    This is an area that is begging for more research, in the form of case studies and larger investigations. One particularly fruitful group to study prospectively would be fetuses and newborns whose carrier status is incidentally identified during prenatal diagnosis (e.g., a fetus tested for Tay-Sachs that proves to be a carrier) or newborn screening (e.g., cystic fibrosis heterozygotes detected during testing for homozygotes).

    In my view, genetic testing should be available to teenagers  who desire it, after genetic counseling of children and parents. No doubt some of you will strongly disagree with me. I am interested in hearing your counter-arguments and thoughts. My favorite people, those who I find most intriguing and rewarding, are those who can make me change my mind.

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    by | July 28, 2009 · 7:24 AM

    Building on our Strengths

    road

    Image Credit: Trey Ratcliffe (click image for link to original photo)

    Why we are well poised for tomorrow

    As part of a committee I recently joined, we were each asked to put together a list of strengths of the genetic counseling profession. Although I’ve written about this before, brainstorming for this project reminded me how incredibly relevant our strengths are in the context of the future direction of healthcare in North America. I thought I’d share a few of my ideas here:

    • Our focus on patient autonomy. There is a huge trend (at least in mainstream media) towards patient-centered care. This article from the New York Times last month is a prime example. It highlights the idea that patient’s no longer want to be told what to do, but are looking for a healthcare provider that will help educate them and involve them in their own healthcare decisions. Assisting patients in making informed decisions for themselves is one of the foundations upon which our profession is built. We are, by default, way ahead of other health professions in this respect.
    • Our focus on prevention. “Preventative medicine” is a buzz term these days, especially given Obama’s healthcare plan, that calls for the promotion of “smart preventative care, like cancer screening.” (This strength was highlighted recently in a list serv discussion.)
    • Our multidisciplinary perspective. Genes are not limited to a specific organ or body part. As the medical paradigm transitions from looking at patients as a series of “parts” (cardiology, nephrology, psychology) toward a more holistic approach, we are well poised to become active participants.

    I believe that knowing one’s strengths and learning to capitalize on them is essential, which is one reason why I enjoyed this activity so much. I’m interested to hear others’ perceptions of the ones I’ve listed above, and ideas about how we can build on these strengths to ensure that we maximize our potential.

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    by | July 23, 2009 · 7:53 AM

    When The Line Between Being A Friend and A Genetic Counselor Becomes Fuzzy

    Set scene.

    It’s 9 pm on a Friday night and I walk into a friend’s apartment all ready to catch up on meaningless gossip with friends.

    “Kelly!  I have a genetics question for you.”

    “What if I have a family history of *insert condition* what are the chances of me having that condition?”

    “Is it okay to take this medicine during the first trimester of my pregnancy?”

    End scene.

    I imagine many of you have found yourselves in similar situations.  I constantly get questions from friends and family members regarding their chances for developing a genetic condition.  I also get many questions from friends who are pregnant.

    My initial reaction is always one where I want to just sit them down and counsel them.  I want to give them all the information they’re looking for.  I want to help them.  I love when people I’m close with show an interest in my passion and I want to seize that opportunity.  It also means something to me that they trust me with some of their most personal question regarding their health.

    I have a personal rule that I stop and think before I answer these types of questions.  I remind myself to take off my genetic counselor hat and to be a friend/family member first.  I do sometimes give very general and basic textbook scientific information.  I do not counsel a friend’s risk of developing a condition nor do I give them any medical advice.  I have never and will not counsel friends/family members outside of a clinic setting.  This not only protects me, it also protects them.  I cannot provide quality services outside of a clinic setting if I don’t have access to accurate medical information, can’t order tests, and I can’t protect their privacy.

    What do you feel your responsibilities are as a genetic counselor outside of “work?”  Do you always wear your genetic counselor hat?  What are our responsibilities when we know we could provide a lot of helpful information?  Do we hold all that information from them and encourage our loved ones to make an appointment with a genetic counselor/geneticist/doctor?  What if they never make that appointment?

    What are some experiences you have had?  Where and how do you draw the line between being a counselor and a friend/family member?

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    by | July 20, 2009 · 7:04 AM

    Perils of Language: Why Sonia Sotomayor Won’t Call Herself “Pro-Choice”

    As Sonia Sotomayor faces the Senate Judiciary Committee this week, two things are certain:Sonia Sotomayor

    1. Much of the questioning will be about abortion.
    2. You will almost never hear the word abortion.

    When we talk about this subject – in speeches, in newspapers, and on our NSGC list serve – the dialogue is shaped by the words that we use, and the words that we avoid.  In the Senate, the discussion will use code words like “judicial philosophy” and “stare decisis.”

    The rest of us will make do with more accessible terms like “pro-life” and “pro-choice.”  Rereading the contributions of genetic counselors following the heinous murder of Dr. Tiller, it is striking how much the use of that familiar shorthand directs the conversation into well-worn ruts of left and right, pro and con, when the truth is I suspect that the majority of counselors – like the majority of Americans – have more in common on this difficult subject than readily meets the eye.

    Take a look at the most recent Gallup Poll results of the subject of abortion. The headline in May was “more Americans than ever before identify themselves as “pro-life.”  Had this poll been taken after Dr. Tiller’s murder, the results might have been different – and the news organizations would have proclaimed this a change of heart.  But really, how many hearts were changed?  It only illustrates the ambivalence with which Americans attempt to shoehorn their complex and emotional attitudes toward abortion into inflexible categories drawn up by impassioned ideologues on both sides.

    In stark terms, “pro-life” suggests that a fetus is no different than a baby.  If this is truly what you believe, how can any abortion be justified?  Many participants in our discussion complained about the intransigence of pro-lifers who won’t make exceptions for rape, incest and so on – but how many of us would identify circumstances under which it is acceptable to end the life of a baby?  Just over twenty percent of the population is opposed to all abortion, a position which may be intransigent, but is nonetheless morally consistent.

    But look at the Gallup Poll results in greater detail and you will see that the vast majority of Americans favor abortion in certain circumstances.  What does this suggest?  Despite the fact that it is hard to talk about and it makes people uncomfortable, most of us believe that becoming a human being is a process – a continuum. We all seek to identify a point along that continuum when “human-ness” becomes so compelling that our moral obligations are clear.  But whether or not you pick conception, or quickening, or viability or birth, the truth is that there are few of us who would not admit that if the building were on fire and we could only save one soul, we would go for the two-week old baby over the frozen embryo every time.

    A majority of genetic counselors identify themselves as pro-choice (although not all, as we all learned in that listserve conversation!).  I am guessing that despite our political and professional stake in that identification, most of us have our own sliding scale, and we may all find ourselves a bit queasy about an abortion that occurs late or for a reason we find “inadequate.”  I believe that what can get lost in the language of political engagement is that we are largely in agreement that abortion is an ugly necessity until the moment when it becomes entirely untenable.  When is that moment?  Don’t we all struggle with that?  Can’t we all sympathize with the desire for a clear and convincing answer?  Don’t we know it will never come?

    Good luck, Sonia!

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    by | July 13, 2009 · 7:00 AM

    Just What Are We Trying To Do Here? The Goals of Genetic Counseling

    In a previous post, I discussed my disappointment with the state of genetic counseling research. Barb Biesecker rightly pointed out that part of the problem lies in a lack of consensus and clarity about the goals of genetic counseling.

     

    So let’s consider some goals of genetic counseling. I make a distinction between Ultimate Goals (i.e., what we ultimately hope genetic counseling will achieve) and Short Term and Intermediate Goals (i.e., key steps towards achieving Ultimate Goals). In my view, the Ultimate Goals of Genetic Counseling are:

    1) To reduce the medical, emotional, social, and psychological suffering that results from the genetic contribution to disease.

    2) To ensure the cost-effective and equitable delivery of competent genetic counseling services to all people in a manner that respects their dignity, individuality, and values.

    Genetic counselors may utilize many different techniques and ethical frameworks – which will vary with the needs and unique situation of each patient as well as the skills and training of the health care provider- to achieve these ends.

    These goals offer a framework for evaluating process and outcome studies of genetic counseling. In a very basic example, a method for increasing awareness of preconception folic acid supplementation might produce a better informed patient (a short term goal) which might help achieve the intermediate goal of better adherence to dietary supplementation which would then lead to the ultimate goal of a reduced incidence of anencephaly. An intervention that simply increases education but does not result in greater adherence or a better health outcome is only a very limited success. Another example of how these goals might be used to assess genetic counseling effectiveness could be a particular patient-centered emotionally sensitive genetic counseling technique that resulted in better psychological adaptation to a child with a genetic condition, which in turn resulted in less emotional and psychological familial turmoil and perhaps better health for the child because the well-adapted family is more likely to utilize health care resources.

    Although I am reluctant to bring up eugenics because it is an emotionally-charged word that generates argument rather than discussion, as genetic counselors we cannot ignore this elephant in our offices. But if we do not raise it in the context of goals, our critics will. Indeed, one could argue that eugenics would also embrace these same goals. The difference, in my view, lies in means, emphasis, and intent. Eugenics, broadly speaking, is looking to improve the “health” of the gene pool and to reduce the number of individuals with genetic diseases, usually through social or institutional influences on reproduction. Genetic counseling, on the other hand, should strive to reduce the effects of the disease, not the number of people with a particular allele or condition.

    But let us not get mired down in endless discussion of the E word. Instead, ponder, explore, question, and critique my proposed goals. Tell me what you think.

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    by | July 2, 2009 · 7:34 AM

    Guest Post: Gene Patents- Why should genetic counselors care?

    By Ellen T. Matloff

    Ellen T. Matloff, M.S. received a Bachelor of Science degree cum laude from Union College, and a Master’s in Genetic Counseling from Northwestern University. Ms. Matloff currently serves as the Director of Cancer Genetic Counseling at Yale Cancer Center in New Haven, Connecticut and previously worked at SUNY Health Sciences Center in Syracuse, NY. She is board certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors, the American Society of Human Genetics and the American Society of Clinical Oncology.

    Should we, as genetic counselors, care about gene patents?

    We have plenty of other things to worry about: patient care, publication pressures, administrative responsibilities, growing caseloads, shrinking health care budgets (I could go on, but why raise our collective blood pressure?) — so why, oh why, would we add gene patents to this list?

    Because gene patents have a major impact on many things that affect our practice. This includes, but is not limited to:

    • Cost of genetic testing, which influences: Patient access and insurability
    • Market competition, or lack thereof, which affects: Cost (see above), our ability as practitioners (or as a Society) to drive change within commercial genetic laboratories regarding issues such as price setting, marketing, advertising, turnaround time, reporting mechanisms, etc.
    • Clinical research, clinical research, clinical research. It is pretty hard to enroll patients in a study with an extra $3000 price tag per subject. Even a small study of 100 patients would cost more than $300,000 in genetic testing costs alone if patients were to receive their genetic testing results. And as those of us who have written grants know all too well, 100 subjects is a small ‘n’ and $300k is a huge chunk of most available grants.

    In short, a strictly enforced patent creates a monopoly. Our patients need a test, we have to order it from one company, and they hold all of the cards. Lump it or leave it.

    In the case of BRCA1 and BRCA2 testing, the cost of testing was $1600 in private laboratories in 1997. Twelve years later with the advent of more efficient and less expensive technology, the cost of the testing has not dropped, but soared: $3120 for full sequencing + an additional $650 for BART analysis = >$3770 per patient. Cha ching!

    Perhaps in response to rising costs and direct-to-consumer advertising, many insurance companies have tightened their belts and their inclusion criteria for testing. HealthNet tried to drop coverage for genetic testing altogether two years ago, before an angry mob of rioters (also called genetic counselors) bled the story to the press. Medicare will now only pay for testing in a person who already has cancer. Kind of obliterates the whole preventive healthcare angle, doesn’t it?

    For all of the above reasons, genetic counselors should care about gene patenting. This is important, its effects are far-reaching, and this is precedent-setting. Educate yourself and educate others.

    ———-

    Here is a great clip about Myriad’s BRCA patent from the documentary film In the Family.

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    by | June 26, 2009 · 7:09 AM

    Guest Post: The “Wholistic” Genetic Counselor of Tomorrow

    By Jordanna Joaquina

    Jordanna is Director of Genetics and Co-Founder of AccessDNA.com, the first comprehensive online resource for information about hundreds of genetic conditions, topics, tests and Direct-to-Consumer providers. She is a board-certified genetic counselor with a clinical background in multiple disciplines of genetics. Read her complete bio here.

    At the Consumer Genetics Conference last week in Boston, MA, most of the genetic “thought leaders” agreed that the technology was advancing quicker than the science. However, we all know that the personalizedmedicinescience will eventually catch up and sooner than we think, we will have made incredible strides. Not only will we identify and validate the genetic variables of disease, but also how they interact with each other, and with non-genetic factors, to affect disease risk and treatment.

    And then what? What happens when personalized medicine is not just a crazy, pie-in-the-sky pipedream made up by forward-thinking, eccentric scientists, but a reality, and the new, “right way” to approach and practice medicine?

    In this brave new world of personalized medicine, I imagine that every person will have their own personal genetic counselor. Along with primary care physicians or specialists, this new class of genetic counselors will help assess, interpret and guide patients through their risk factors, both genetic and non-genetic.

    But if personalized medicine is realized tomorrow, little of us would be prepared to take on this important role – the “wholistic,” as I call it, genetic counselor who specializes in complex disease. Most of us have never even seen whole genome scanning nor whole genome sequencing results, nevermind being asked or expected to interpret them.

    So, as genetic counselors, what can/should we do? How do we position ourselves as vital members of the personalized medicine team? How do we better educate and train ourselves and future genetic counselors in the genetics of complex disease as well as emerging genetic technologies? How do we participate in whole genome research, thought groups, and policy-making bodies? How do we continue to advocate for the proper use of genetic information and promote access to genetic services?

    How do we begin to see our field and ourselves as one of the most important elements of health care in the next century?

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    by | June 23, 2009 · 7:04 AM

    When to take the debate public

    I am an advocate for public thinking. In this era of social media, collaboration and transparency, there seems to be little benefit in keeping ideas to yourself and engaging only with those with similar backgrounds and viewpoints. By opening the conversation up to a larger audience, you can challenge yourself to consider others’ opinions and create a more dynamic and evolving dialogue.

    I’ve always found the genetic counseling list serv an interesting phenomenon. From a clinical perspective it is a great tool to disseminate and receive info. But as a tool to discuss professional issues, media articles, political events, etc. I’ve always found it somewhat inadequate. Interesting debates and insights get lost in inboxes and archived folders. A blog, in my opinion, is a much more appropriate and user-friendly way to discuss and document these issues.

    Then, about two weeks after the launch of DNA Exchange, Dr. Tiller was murdered. With indisputable relevancy for and impact on the genetic counseling community, it seemed obvious that this event should be addressed here. We asked Betsy Gettig to put some of her thoughts on paper, and I drafted a post.  But as I watched the discussion unfold on the list serv, with all of the uncensored expressions of grief, anger, confusion and hope, I reconsidered the utility of taking the discussion public at that particular point in time. With such an emotion laden and polarizing topic such as late-term abortion, adding a public element to an already difficult disucssion seemed excessive. As simple as it sounds, the experience taught me about the value of our profession’s private discussion list- namely the ability to discuss issues directly with other GCs, and only other GCs.

    As some time has passed and I have had more time to digest my thoughts and feelings about Dr. Tiller’s death, I feel more comfortable discussing it online. I still may publish the drafted Dr. Tiller post at some point, and I know others are wanting to write on the topic as well. But for the time being, I am hoping to hear what you think about the benefits of private vs. public discussion of professional issues. What do you believe to be the strengths and drawbacks of this type of forum? What do you hope to see discussed here?

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