Yearly Archives: 2009

by | September 28, 2009 · 7:45 PM

Can You Feel Anything When I Do This?

Despite 26 years as a genetic counselor, people are often a mystery to me. Here I present a vignette that explores my inner thoughts and insecurities that can arise during a counseling session. It is drawn from no one specific patient. It may not be real but it is true.

***

“Have your doctors told you much about what I do or why genetic testing may be helpful?”

 

Playing her emotions close to the vest, eyes unreadable, a near-smile frozen on the face. She looks like she is posing for a photo she doesn’t really want to be in. Mastectomy, lots of chemotherapy; this isn’t going to be a walk in the park. She’s got to be feeling something.

***

What does she do for a living? Corporate VP with an international finance company. I wouldn’t understand her job even if she explained it to me. Every week she probably makes multi-million dollar decisions without so much as a second thought. But cancer is one situation you can’t control with a spreadsheet. Is it too early to reach into my bag of counseling tricks? Emotions are a tight rope. Wrong step at the wrong time, and the session goes into free-fall, with no safety net below. Maybe she thinks this is a waste of her time and just wants to get her blood drawn and get on with it already. Or maybe all those specialists scared the bejeezuz out of her, with their slick clinical lingo and impressive statistics. I sound just like them with my talk of oophorectomy and cancer risks. Who can grasp the real meaning of a lifetime risk anyway? Maybe I need to switch gears.

“You’ve met with lots of specialists this week. I bet you’ve heard more information than you bargained for.”

Well, she stopped taking notes. Maybe I can work her family into that opening.

“Have you shared any of this information with your daughters?”

A solitary tear, held in place by sheer will. Okay, now where do I go with this?

 

Short pause, then she replies “Tell me again the chance of this cancer coming back.”

She stopped that tear dead in its duct. She’s more comfortable when I play Medical Expert. Not quite ready to let the emotions spill over the dam, but it’s a start. I can play along with being The Great Authority for a while. She could be sizing me up to see if I am smart enough to earn her confidence and respect; nothing wrong with that.

***

“You know, you’re going to live, and probably for a long time. It will be rough going for a while, but you will come out the other side. You have good doctors and a great family. And I am guessing that you are tougher than your cancer.”

A hint of a smile, then a long pause. She’s struggling with this, not quite sure what to make of it. I hope I didn’t blow it.

 

“Will my insurance company cover the test? I forgot to call and check.”

That fell flat. I may as well just go along with answering her questions. Maybe it allows her some sense of control.

***

60 minutes, session over, and I am still unable to figure her out or if I did much good for her. She pauses at the door, and half turns to face me, tears starting to undo the make-up.

 

“Thank you,” she says quietly, ”You were very kind.”

Then she is gone.

7 Comments

Filed under Robert Resta

Tagged as , , ,

by | September 15, 2009 · 6:40 AM

Guest Post: Female Buyer Beware

By Lola Cook

Lola Cook, a board-certified genetic counselor, currently works as a prenatal genetic counselor at a private hospital in Indianapolis. Previously, she worked in pediatric and adult genetics for 11 years at Indiana University Medical Center. She is the Project Director of a Maternal-Fetal Medicine and Genetics Maternal Child Health grant funded by the Indiana State Department of Health.

This past week, I was skimming my Journal of Genetic Counseling when my attention was drawn to the article by Tamara Somers and her co-authors about women’s interest in cancer genetic services, even when they do not have a significant family history. Part of the interest seemed related to their cancer distress. I am not surprised, for it mirrors my own level of interest or, should I say truthfully, anxiety about breast cancer. Added to my background worry, is the fact that my colleague who is the same age as I, in her 40’s, was recently diagnosed with stage III breast cancer following a normal screening Myriad BRAC Admammogram a year before and a limited family history. And then there are the new Myriad direct-consumer ads about BRCA gene testing finding their way into our own homes!

The National Cancer Institute estimates that currently the lifetime risk for a woman to develop breast cancer is 12.7%, which translates into 1 out of 8 women.  They go on to state:

“These probabilities are averages for the whole population. An individual woman’s breast cancer risk may be higher or lower, depending on a number of factors, including her family history, reproductive history, race/ethnicity, and other factors that are not yet fully understood.”

To be honest, it blows my mind that not more is done to offer and provide breast cancer risk assessment to women when you consider the background risk and so many mitigating factors. In addition, some of us are worriers, and not necessarily objective ones.

I was lucky (or just a worrier with resources). I knew to call the cancer genetic counselor where I work, when my cancer distress was increasing.  She suggested a general breast cancer risk assessment clinic in our hospital, not the cancer genetics clinic, since I did not “qualify” with my mere late-onset breast cancer mother. It took a few contortions to get into this clinic for breast cancer risk assessment, and then it was found I qualified for yearly MRI breast examinations based on my personal and family histories. I was high risk. In fact, the radiologist reluctantly admitted after my mammogram this year “that with your dense tissue, the detection rate of the mammogram is probably a little better than 60%. It’s good you are having an MRI”. How many years had I obediently done my annual mammogram with no specifics provided or context given to the results, just assuming I was in the clear zone? Those of us interested and yes, even anxious, can not assume basic and individualized breast cancer risk assessments and/or referrals will happen during our 15-minute primary doctors’ visits or even by our local breast centers!

As a genetic counselor and as a female, I suggest that we get the word out to our friends, families, and patients with limited family history about the option of breast cancer risk assessment in a formal setting, whether it is like the clinic I attended or a specialty genetics clinic. As health care providers, the more difficult task is to figure out how to make breast cancer risk assessment services more readily accessible to all women. At a time when we are faced with direct consumer ads in our own living rooms, women can not be fooled that screening and testing are enough. Cancer risk assessment services can do much to adjust risk perceptions, reduce anxiety, plan truly useful and individualized screening and testing protocols, and coordinate care. Based on this small study, we know the likely response, if we just take the time to ask and refer.

3 Comments

Filed under Guest Blogger

Tagged as , , , , ,

by | September 4, 2009 · 2:27 PM

DC Takes on DTC: The “T” Doesn’t Stand For Tomorrow Anymore

On the first day of a two-day workshop on direct-to-consumer genetic testing co-sponsored by the Institute of Medicine and the National Academy of Science, Muin Khoury of the CDC raised the following question: if we speak out against the current crop of micro-array based genome-wide screens. are we allowing the perfect to be the enemy of the good?  An answer, suggested the generally skeptical panel, might be based on how strictly you defined the word “good.”  Several speakers, including Dr. Khoury, were unimpressed by the predictive capacity of today’s SNP-based disease-gene associations.  Despite some notable successes where specific alleles have been demonstrated to increase relative risk in a meaningful way (age-related macular degeneration was usually the example), the massive number of genes identified through GWAS since 2006 have been, as Alan Guttmacher of NHGRI stated in his talk, “great for understanding the biology of the disease, but weak predictors accounting for only a small fraction of heritability.”

Complaints fell largely into three categories: validity, utility and the public health risks of giving out this information, right or wrong.  As regards validity, a number of speakers pointed out that these early data were largely unreplicated and that standards did not exist to define what constituted a meaningful level of “association.”  Utility was usually invoked to question whether or not the test would add information that was clinically significant – would it affect medical decision-making, or provide a better indicator than simpler tests or the underutilized gold standard of family history (oh that again!).  These are excellent questions, since most GWAS-based associations don’t move the dial much on risk – increases tend to be in the range of relative risks under two, which, in technical terms, means you are a smidge more – or less – likely to get the disease or condition.  But cost is also a question of utility, since changes that are not affordable cannot be incorporated into medical practice.  The cost of scanning continues to fall and a dizzying pace – and multiple panelists insisted that we will see complete genome sequencing for under $1000 by the end of 2010 – but what about the costs of follow-up?  What pot of money will the insolvent U.S. medical system find to pay for added MRI’s, or blood tests, or doctor’s visits for patients whose SNP profiles suggest an increased risk or this or that?  Reading the websites for, Navigenics, 23andme, and deCODE, you might come to believe that your doctor will thank you for bringing this useful information to his or her attention, but Dr. Patricia Ganz of UCLA Medical School, brandishing the twenty-five page report from 23andme sent to her by a patient, wondered aloud if the average physician would in fact appreciate that lovely extra time together, reading pie charts.

And what does all of this mean for genetics counselors?  Joe McInerney, executive director of NCHPEG, spelled out the good and the bad of it in his talk on understanding among health professionals.  Genetics, he predicted, will be the first field in medicine to be de-centralized: moved from the realm of specialists back into the world of primary care.  Will we move from being educators of patients to being educators of health professionals?  McInerney suggested that pressure from patients interested in understanding what to do with their $1000 genomes will push physicians to seek expertise in genetics.  Other participants pointed out that the generalized field of genetic counseling may be asked to provide more in the way of genetic counselor specialists to meet demand as the walls between Mendelian disease and common complex disease come crumbling down in an avalanche of new information.  Forget the term “genetic disease,” McInerney declared!  They are all genetic diseases now – and in a world that he described as “woefully unprepared” for the era of genomic medicine now approaching with all the subtlety and control of a locomotive off the tracks, the question lingers: where will we find ourselves in this new landscape?  In the absence of a perfect answer, are we prepared to define when “good” is “good enough”?

5 Comments

Filed under Laura Hercher

Tagged as

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.

Leave a comment

Filed under Kelly Rogel

Tagged as ,

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!!!!!!!!

    19 Comments

    Filed under Jessica Giordano

    Tagged as

    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.

    6 Comments

    Filed under Robert Resta

    Tagged as , , , , ,

    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.

    Leave a comment

    Filed under Allie Janson Hazell

    Tagged as , , ,

    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?

    1 Comment

    Filed under Kelly Rogel

    Tagged as ,

    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!

    1 Comment

    Filed under Laura Hercher

    Tagged as , , , ,

    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.

    Leave a comment

    Filed under Robert Resta

    Tagged as , , ,