Tag Archives: Genetic counseling

by Allie Janson Hazell | July 28, 2009 · 7:24 AM

Building on our Strengths

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.

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.

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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