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.


Filed under Robert Resta

10 responses to “The Problem With Genetic Counseling Research

  1. Megan

    This is an excellent question and one I have thought about many times. I agree that few novel ideas emerge from many of the articles that are written. This has honestly discouraged me from thinking about conducting research so I would be very interested in seeing what people have to say.

  2. Barb Biesecker

    Thanks Bob, for always being provocative and stimulating thoughtful debate. Indeed there is much to be desired in the “empirical evidence” on the effectiveness of genetic counseling. The single greatest problem is how the research is designed. You raise this by pointing out that recall and anxiety are not appropriate outcomes. They do not represent “success” in genetic counseling. Further, we do not help ourselves to support studies that survey genetic counselors about (I am making this up) what they know about a rare set of genetic skin diseases and then publishing our own ignorance. It is not a reasonable goal for all practicing genetic counselors to know about every specific set of conditions. Yet we continue to distribute and present such surveys. We may be the most over-surveyed profession on the planet and yet we have no clear evidence for what elements of the process of GC are essential and effective to our desired outcomes. We still fail to have consensus on what those outcomes are. However, there is hope.
    Social and behavioral science research in many areas of disease and disease risk has grown in the past decade into a burgeoning field replete with evidence for clinical care and public health efforts. We need not despair!
    What we do need it to learn about health education and communication theories, models, scales and outcomes. And about design of studies that evaluate the complexities of psychological counseling interactions. We need to borrow from those that work around us!!
    This week the NIH held a Road Map meeting on the Science of Behavior Change. Much of it addressed the role of genetics in disease risk, communication or persuasion, decision making, and improved health outcomes. These are all elements of what is involved in genetic counseling. The players are largely health psychologists who work in academia, health research centers, for the government or policy/advocacy organizations. We need to find these folks and collaborate with them. They can be found at the annual Society of Behavioral Medicine Meeting, the Am Psych Assoc Mtg, the Am Soc of Pub Health Mtg or the disease-specific meetings on cancer, heart disease and diabetes (among others). Attend the meetings and talk with the researchers. Identify overlap in interests or offer a disease cohort or access to your clinic. Identify potential hypotheses that you would like to study. Conduct massive lit searches (not so hard these days) to identify areas of unstudied questions (in GC there are plenty). This is how to push research forward.
    You do not have to get a doctoral degree to do this (although it is fun to do so). You need to find mentors, colleagues and collaborators and to join teams doing good science. This is critical to the future of our profession. We need evidence that what we do results in the desired outcomes and if it does not, we need to identify unmet needs and test new interventions/strategies (this is also fun).
    When we started the GCTP at NHGRI/JHU we caught a lot of flack for our emphasis on research but now most programs embrace research and the best research in the field comes from the students in the programs doing original research for their theses. This is very hopeful for the future!! Talk to them, they have read a great deal of research literature and often have exciting ideas about unanswered questions in the profession.
    Join the research interest group, attend research design conferences and meetings, and attend the presented papers at NSGC (often sparsely attended). Even if you don’t want to do research, you should know what is being done and get a sense of how good it is. Sometimes the studies are on our patients and their needs rather on what we do and how it is effective or not. This is also important for developing targeted interventions to study that may improve the quality of life for our patients. This is another way to gather empirical evidence for GC and what we have to offer.
    Obviously, I feel passionate about this topic, but not at all despondent. Our profession has grown tremendously over the past decade in conducting research and with this trajectory, we are in for an exciting new decade ahead.

  3. Excellent points, Bob and well stated. Genetic counseling has many more outcomes than an educated patient. There are other areas of medical research that focus on the educated patient and informed decision making; for example in one study on warfarin adverse reactions, patients starting warfarin who had counseling with their nurse and took home an information packet were much more likely to be compliant with the treatment protocol and had fewer adverse outcomes as compared to the group who had physician consultation alone. Similar studies for genetic counseling are possible and should be undertaken.

  4. Emily H

    While I think it is difficult to peform such research, I would love to see information about the difference in appropriate test utilization when genetic counselors are involved vs. when genetic counselors are not involved. Also, how frequently patients are given incorrect information by genetic couselors versus other health care providers.

    However, I only see the patients who DO (finally) present for genetic counseling. Often they have been given incorrect information before. (Such as patient who was found to have a common chromosome 9 inversion and told by her MD that she could have no healthy offspring without PGD). What I wonder is how often patients are just given incorrect information and never see a genetic counselor….but how do we identify and approach these patient from a research standpoint?

  5. Bob Resta

    I guess I am not alone in my perceptions of the somewhat anemic state of genetic counseling research. I was starting to worry that I sounded like a grouchy old man.

    Barb – as usual – brings up some very good points and very solid suggestions, and reminds me of the breath of fresh air that a new generation of bright genetic counselors will bring to the profession. Within the context of the NHGRI it is probably easier to conduct research; it is, after all, one of the world’s great research institutions with brilliant investigators in every nook and cranny. Research is a bit trickier to conduct for those of us who work in primarily clinical institutions where research takes a back seat to “just how many patients I’ve seen this month and how come my numbers are down”. But many of us do participate in research in some way, or else all those boring articles would not have been published. We should take a more proactive role in working with researchers in the design phases of those research studies, rather than passively agreeing to let researchers use our clinics to generate their studies and then gratuitously tacking us on as the 7th author of a 9 author article.

  6. Catriona

    Thank you for the stimulating discussion topic. I agree that this is a challenge for research design, however, I believe that I second Barb in personally finding it inspiring rather than discouraging. I have been impressed by quite a few studies of the genetic counselling process, and see great opportunities for future research.
    As Barb mentioned, the lack of consensus within the genetic counselling community on the goals of genetic counselling presents a challenge in the choice of outcome measures. Research studies are limited by their design- they can only answer those questions that have been asked, and as such the design of the research is crucial. I wanted to add that perhaps using qualitative methodology (which is often somewhat overlooked) might have a better chance at revealing some more of the insights that you mention, Bob.
    It is also perhaps worth clarifying the goal of conducting research studies. For example, in some cases, genetic counsellors wish to provide empirical evidence in support of their work in an attempt to convince health authorities, for example, of the value in hiring more genetic counsellors/starting new clinical programs. These studies may rely more on quantitative methods, with the assumption that statistics may carry more weight for those with “decision-making power”.
    In response to your concluding questions, Bob, I am currently Co-Principal Investigator on a funded randomized controlled trial evaluating the efficacy of genetic counselling for mental illness. We started out with the following outcome measures:
    Knowledge and Risk Perception
    Perceived stigma
    Perceived control over the illness
    Participant opinion on whether or not the goals of the session had been achieved
    and have since added:
    Attitude towards treatment for the illness
    I hope that some of you might be interested in reading about our results!
    It can feel intimidating to systematically evaluate your practice in the context of a research study, however, I believe that it also holds tremendous potential for self-reflection and growth as a genetic counsellor. I would like to agree with Barb in encouraging others to be a part of this kind of research in whatever way you feel that you can.

  7. Barb Biesecker

    Catriona facilitates an important dialogue in response to Bob’s original question-what are desired outcomes of GC that we can measure? (Also see Meiser and colleagues’ review of study variables in the JGC).
    Additional dependent variables include:
    Decisional conflict (includes subscale measures of regret and satisfaction)
    Informed choice (using a model developed by Marteau and colleagues) that includes knowledge, attitudes and test choice
    Coping or adaptation to one’s condition or risk
    Quality of life
    Appraisals of illness or illness risk
    Behavior change (related to medication, diet or exercise adherence-like restrictions in cardiovascular disease risk patients)
    And those mentioned previously-
    Perceived control
    Perceived stigma
    Empowerment (Mcallister, Shiloh and colleagues are developing and validating a measure in their work on outcome measures of genetics services)
    If we want to conduct studies that illustrate that patients are better off seeing a genetic counselor than not, we need to be more specific about what they get as a result. If a client in follow up remains naive about a genetics fact or misunderstands, that is not a reasonable outcome to conclude that GC was less than successful. Our patients cannot and will not get all the facts right. As Bob said, recall of information may what we want to see but may hold less relevance for our clients. They hear what they hear, need different information than we value, may not use information to make decisions, may not value information above emotional responses, can get information other ways… Yet at the same time, we don’t want our clients to make uninformed (naive) decisions. So, looking at informed choices is one alternative as it includes basic knowledge about the test but also attitudes-whether the choice was consistent with ones values and beliefs.
    Whether they were satisfied that their questions were answered, that they could use the information and that it helped them in the future as they faced new challenges is another alternative (anticipatory guidance). This could be captured through exploratory (qualitative) methods as suggested earlier, but at the end of the day we still want/need to know-for how many people was there a measurable improvement in at least one aspect of their life as a result of genetic counseling?
    I would love to hear other people’s ideas about what we offer our clients that is invaluable or improves their lives or their care in a tangible way that we can capture through quantitative approaches.
    Yes, it is harder to participate in research when you are a busy clinician-no doubt. But a number of clinical genetic counselors have worked with me and helped to implement or design studies. This type of research benefits from a team approach. The basic social scientists are clamoring for “disease cohorts” or access to clinic patients or interesting health related issues that can be asked in certain contexts. You as the clinician on the team can offer your content expertise and your services for study. It’s a great way to become part of a team and to begin to learn how studies are conducted. It’s also stimulating and can enhance your professional development and job satisfaction.

  8. Suzanna

    I too feel hopeful about the future of GC research when I read these lists of potential outcome variables ripe for study. Thanks so much to everyone for sharing these. I’m especially intrigued by the outcome variable of “Empowerment” mentioned by Barb and Catriona. In my personal, totally non-scientific struggle to determine whether I’m doing anything useful for my clients, I’ve started taking note of specific counseling skills I used in a session. By far the most frequent is esteem-boosting or competence-boosting. Maybe I need to expand my tool box a little (  ), but I’ve started to think that this may be one of the most important things we do for our clients. If only we could show this benefit through research! Perceived control comes close, but empowerment is much better. I’ll be really interested to see how this might be used in GC research in the future.

    One thing that hasn’t been mentioned as much in this discussion is the need for process studies in addition to outcome studies. What is actually going on behind closed doors with GCs? Are we actually using the counseling skills we learned in school? If not, what are the barriers preventing this? Are they personal or systematic? Many of the skills we use may have already been validated in other counseling and public health settings – but are we applying them appropriately with our client populations? Are there aspects of the genetics setting in particular that undermine our ability to employ psychosocial counseling? What are realistic expectations of ourselves? I think Deb Roter and others have started to explore these issues with their GC simulation video studies. To do this even more, we definitely need more than surveys on the professional listserv: GCs have to have the courage to open our doors and expose ourselves to examination and critique.

  9. Pingback: Just What Are We Trying To Do Here? The Goals of Genetic Counseling « The DNA Exchange

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