Tag Archives: Genetic counseling

by | February 1, 2010 · 10:25 PM

Counsyl, Counselors, and Counseling

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

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

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

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

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

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

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

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

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

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

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

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by | January 26, 2010 · 12:03 AM

Testing Your Limits

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

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

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

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

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

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

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

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by | December 14, 2009 · 6:17 PM

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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by | November 29, 2009 · 5:59 PM

A Ghost From Christmas Past (Gate B4)

 

Not uncommonly we run into our patients outside of the workplace – in supermarkets, restaurants, and the like. When this happens, patients are usually friendly and chatter pleasantly while we frantically try to recall their names and what had brought them to our clinics. It can even be amusing, like the time my (then) 4 year old daughter and I were in the dressing room of the community swimming pool, buck naked, when the guy next to me stared at me for a bit, then exclaimed “Hey – I recognize you. You’re Bob Resta. You called us with some great news the other day. I can’t wait to tell my wife I saw you.”

Sometimes, though, these chance encounters are awkward and complicated.

It was just before Christmas in the late 1990s. We were at the airport to pick up my daughter who was returning home after having finished her first semester at college . Watching your child become a young adult and start life’s journey evokes many conflicting emotions, but after four months apart mostly you are excited to see your kid again.

In the eyes of our offspring, parents are capable of the most acutely appalling acts that are a constant threat to a teen’s cool quotient. Once we recognize this, it becomes parents’  – well, mostly fathers’ –  life mission to engage in embarrassing public behaviors, in loving payback for their children’s you-are-so-geeky-old and you-are-not-related-to-me attitudes toward their hopelessly unhip elders. Lest my daughter forget what she had escaped from four months earlier,  we decided to greet her at the airport wearing low-budget reindeer antlers resplendent with miniature holiday decorations.

This was a more naive time when you could still greet passengers at the gate and you weren’t confined to waiting behind the luggage carousels far from where loved ones have exited their planes. Our excitement grew when the PA announced her flight’s arrival at Gate B4, antlers perched on our heads in full kitschy splendor, grins locked on our faces in anticipation of her eye-rolling horror.

The first passengers emerged at the gate, wearing a slightly confused look as their eyes and brains adjusted from the cruelly close horizon of the seatbacks in front of them to the hustle and bustle of a busy airport. I was scanning for my daughter among the exiting passengers when the foremost one approached me. “You’re Bob Resta” she said in a flat, low tone tinged with grief at its edges. “Last Christmas you called me with the most devastating news of my life. I will never forget your voice or what you said to me.” At a loss for words, I looked at her, unable to remember anything about her. She paused for a moment, looked a little longer into my eyes,  and then continued on her way.

Amid the background airport din, I could barely make out Joni Mitchell’s melancholy voice, “I wish I had a river /I could skate away on.” Shell-shock replaced my smile. One of my reindeer antlers drooped and its miniature candy cane decoration dangled helplessly. My gaze returned to the departing passengers but I lost track of why I was waiting there.

 

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by | October 27, 2009 · 8:45 PM

The Small Satori of Genetic Counseling

Let’s face it – lots of genetic counseling is repetitious. Most of us have subconsciously scripted our own version of a counseling session that we follow more rigidly than we like to admit, the inevitable outcome of seeing hundreds of fairly similar patients a year, year in and year out. On particularly busy days, you may even  lose track of where you were  in the session when a patient asks a tangential question or there is a knock on your door. It can be a slog, a Groundhog Day-like re-playing of the same film with only minor variations.

This repetition stems to some extent from the educational component of genetic counseling, the need to impart complicated biomedical information with the ultimate goal of helping patients making good decisions about their medical care and lives. We want to combine knowledge with emotional guidance so patients can gain wisdom and personal insight. Sometimes, though, as you watch dazed patients stumble out of your office, you start to wonder just how effective or helpful you have been.

On the other hand, there is a zen-like quality to constant repetition of the same act. By focusing strictly on the task at hand you master it through endless repetition. You eventually perform without thinking of the mechanics of performing, and achieve a state of mastery without thought .  Chop that wood, carry that water. Brush left, brush right, Karate Kid. This frees the mind, making it receptive to sudden, unanticipated moments of enlightenment – satori, in the language of Zen. With a free mind, you can subconsciously pick up cues from patients’ words, expressions, and postures, and suddenly, you see into the heart and soul of your patient – Wumen’s thunderclap out of a clear blue sky. Ah –  this cancer patient is angry because his mother walked out on the family when his father was diagnosed with terminal colon cancer, not because I kept them waiting 15 minutes for the appointment. Look – all the worry left her face when I said she really did not need to have an amniocentesis; she just needed someone in authority to tell her that it was a good decision.

What we really want, though, is for our patients to also have these small satori,  those magical moments when their faces light up, their eyes open wide, and everything falls into place for them.  These are some of the most rewarding and exciting moments of genetic counseling. Yes, yes, of course – I must tell my sister about my BRCA results to make sure she does not get ovarian cancer. She’s my sister ; I love her even if we are always bickering. You know – I just realized I do not need to have an amniocentesis; for some crazy reason, I was going to do it for my friends.

Repetition is critical to our professional development. In quiet, not-quite-perceptible ways, it builds our confidence, enhances our ability to understand our patients on a deep level, and plows the soil for the seeds of personal growth. For the compassionate bodhisattvas among us – like Jon Weil, June Peters, Luba Djurdjinovic and a few others – thunderclaps are second nature. For the rest of us – well, it’s back to chopping wood and carrying water.

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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 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 | June 16, 2009 · 6:55 AM

The Problem With Genetic Counseling Research

Researchers are finally starting to pluck the ripe fruit of  genetic counseling. The last decade has witnessed  a flood of articles about the emotional, psychological, and educational aspects of genetic counseling such that I can no longer keep my head above water. Given my long standing passion for research, I should be happy about this state of affairs.  So why do I often find myself let down after reading publications about genetic counseling?

To begin with, the conclusion of most articles can be summarized this way: “Many participants were unable to accurately recall information, some were anxious, and there were varying degrees of depression. There was little evidence of harm caused by genetic counseling and some small evidence of benefit. Most of the participants liked the genetic counselor.” This is basic, intuitive insight obvious to most genetic counseling students after their first couple of clinical rotations in graduate school. The research usually offer little in the way of new clinical insight that can be incorporated into counseling practice beyond the broadest generalities.

Of course recall is poor and anxiety is up; patients are dealing with complex medical information about emotionally sensitive topics like mortality, morbidity, and their reproductive lives. Yet despite these measures of our inadequacy,  in my experience, most patients -with a minority of notable exceptions that each of us can cite from our experiences -seem to make good decisions that are medically sound and consistent with their beliefs and values.

These studies also suggest that genetic counseling is a failure because of poor recall and heightened anxiety, implying that if patients only were clear-headed and  well informed, they would make logical anxiety-free decisions. But the reality is that – except for the small minority of patients with a disproportionate number of Vulcan genes – people are not logic-driven automatons, and anxiety and sadness are natural consequences of discussing death, serious illness, and risks to loved ones. Welcome to life. It also implies that the priesthood of genetic professionals possess The Great Clinical Truth and The Right Numbers when in fact the information and statistics we selectively present to patients are somewhat arbitrary and reflect our own training, biases, and institutional traditions.

Clinicians want their patients to think and act like , well, clinicians. In fact it should be the other way around – researchers and clinicians should be trying to think and act like patients. How is it that patients manage to make good decisions? When is a patient decision good, and when is it bad? Is it because of our best efforts, or in spite of them? How are we helping and hurting them?  What is happening in genetic counseling sessions that is or is not influencing health behaviors?  Can we show that genetic counseling has improved the health of our patients? Are – gasp! – other health professionals or even educational software better at it than we are? Can we use genetic counseling research to provide broader insight into the human psyche and behavior?

What types of genetic counseling research would you want to read or conduct, if you had the time, resources, and money? Which authors should we be paying more attention to? What are the great unexplored areas of genetic counseling? Take a moment to speak your mind and spark our imaginations.

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