Genetic Counseling ≠ Genetic Testing

I know that I am old and curmudgeonly. I acknowledge that my musical tastes and my concept of genetic counseling are hopelessly stuck in the 20th century. I sense in a frighteningly helpless way that my generation of genetic counselors is becoming increasingly irrelevant to the profession. It is like watching the air slowly leak out of my inflatable raft in the middle of a swift flowing river and realizing I don’t have a lifejacket. If you press me on it and buy me a few drinks, I will let slip out an admission that DNA analysis technologies like ion semiconductor sequencing and pyrosequencing are incomprehensible magic to me. I feel like I have become a visitor in my home country and I can barely speak the native tongue anymore.

So this paradox might sound like a useless warning flare fired from a sinking vessel before it goes under, a futile attempt to alert my younger upstream genetic counseling colleagues who are new to navigating these tricky waters: I love genetic testing; I hate genetic testing.

Genetic counselors and genetic testing have grown hand in hand since the early 1970s. At least in the US, one would not have flourished without the other. Amniocentesis, CVS, carrier screening, maternal serum screening, ultrasound, DNA sequencing, microarrays, and other genetic testing advances have all been ushered into medical practice by the genetic counseling profession. The tests generated a need for our unique skill sets along with the security of employment and the financial wherewithal to support our positions. Without genetic testing, we wouldn’t be where we are today. So what’s to complain about, even for a complainer like me?

Well, I have two related complaints. My first complaint is the ever-expanding list of genetic tests that we feel obliged to offer our patients in prenatal, oncology, and other settings. Don’t get me wrong – I think genetic testing can be incredibly valuable from both a medical and a psychological perspective. But I wind up spending way too much valuable counseling time highlighting the differences between Panel A and Panel B and the relative merits of this lab versus that lab. And, oh, by the way, many of the genes included on these panels are largely irrelevant to your particular clinical concerns. I hear similar plaints from some of my colleagues in prenatal – this carrier test for 75 conditions or that one for 200 conditions, or this prenatal screen versus that prenatal screen.

It is often not clear to me why some of these tests are part of clinical practice to begin with. Probably a variety of forces are behind it – the push from labs to offer more tests and to compete with other labs; the common trait of genetic counselors to be early adopters of new technologies; trying to show that we are at the cutting edge of genetics; our obsession with offering ALL options to ALL comers; demands from patients and referring physicians; worry that if we don’t offer the shiniest, newest products our patient population will go shopping at the next medical center down the road, or Heaven forbid, shop online; and a nagging fear of being sued or at the very least of providing sub-standard care. As I have written about previously, sometimes genetic tests became standard of care before they were thoroughly vetted, evaluated, and debated.

Which leads me to my second complaint. There is a tendency, sometimes overtly and sometimes silently, to conflate genetic testing and genetic counseling. Yeah, sure, genetic testing is an important part of what many of us do, but my job title says counselor, not tester. For some genetic counselors, testing is not even part of their job. We educate, provide clinical expertise to other care providers, and participate in research. There are other services we provide to our patients, not the least of which should be an intense psychological, personal, and occasionally angst-filled exploration of why patients might even want testing to begin with, never mind which test they want. We are there to support and work with them when no testing was done, when testing is irrelevant, or when testing was done in the past and we are helping them adapt to their new medical and emotional status. Let’s look at what your worries and fears are, and why you are in my office to begin with. What has it meant for your life that you or your child or your sister have this condition? What resources do you need? How have your loved ones been supportive or not of you? What are your health care and life goals? Or bigger picture questions such as what are the medical, economic, and social impacts of genetic disease?

At times I think that genetic counseling for psychiatric conditions is the last pure form of genetic counseling – reliable genetic testing is not available for most psychiatric conditions, so you are “forced” to rely on your counseling and clinical skills. Okay, so perhaps I exaggerate a bit, but you catch my drift. I remember my long time colleague Vickie Venne once saying to me that cancer genetic counseling became a lot less interesting to her once BRCA testing became available. While not denying the many benefits of BRCA testing and how it has helped save lives, there is a measure of wisdom in Vickie’s statement.

As a profession, we should extol and support our role in ordering and interpreting genetic testing. But we, or at least I, don’t want testing to be our defining activity. Yes, as one of our skill sets, we are pretty damn good at it. But let’s not forget that it is a counseling session, not an Informed Consent session or a sales pitch. We should boast more about our abilities to help patients make sense of genetic disease for their lives in a psychologically meaningful way, and testing is only one means of achieving this goal. Genetic counselors are not Genetic Testers; Genetic Counseling is not Genetic Testing.

 

 

 

7 Comments

Filed under Robert Resta

7 responses to “Genetic Counseling ≠ Genetic Testing

  1. Vivien Triano

    I’m a baby counselor compared to you, Mr. Resta and I couldn’t agree more. I, too went into this profession to be a counselor not a tester!

  2. Kami Wolfe Schneider

    Thank you for this fantastic and timely post, Bob. I have been saying the same things, especially about not wanting to be genetic testers in a time when more people are needing testing than we can counsel. Now is the time to support other providers in a way that allows them to obtain quality informed consent and properly coordinate testing so that we can focus on the complex decision making and counseling issues that come up when dealing with genetic conditions/risk.

  3. Janet

    Coming from a rare disease and research (e.g. your psychiatry comments), and now full force in the cancer world, I realized that I did the “harder” type of counseling previously in rare disease, even though at the time I felt like I was being left behind by the field. Now that I’ve seen both sides your article is poignant. Thank you for nailing it on the head there.

  4. Katie Stoll

    Thanks as always for the thought provoking article, Bob. As the number of testing options expands, I have heard from many GCs that they feel like a car salespeople, “do you want the basic or the deluxe model?” And the pressure to cover all of these testing options may come at the opportunity cost of not leaving time to address the individual patient’s needs and the social/emotional/psychological aspects of this information.

    As the priorities and focus of our professional role shifts my greatest concern is related to reproductive genetic counseling. One of the primary objectives that our profession was founded on was to empower patients with information and support decisions (including the option to declining testing) consistent with their individual needs and values. Genetic counseling in this context is so important for protecting patient autonomy and to reduce the possibility of coercion.

    Also of concern is the increasing push to have genetic counselors involved only in the post—test discussion. The trend of labs offering “complementary” genetic counseling in follow-up to their brand of test seems to be moving us very quickly away from being genetic counselors, or even genetic testers and more towards becoming test interpreters. https://blogs.harvard.edu/billofhealth/tag/genetic-counseling/

  5. Courtney Rowe-Teeter

    Thanks for the well written and timely article, Bob! Our group discusses these challenges regularly in this ever-changing genetic testing landscape. It was nice to see your post mirroring our recent discussions.

  6. Thanks for sharing your knowledge with us. Very useful article on genetic tester.
    As we know, the people are varied from one another in many ways, and it’s reflected in many instances. What they eat, what types of stress they face, how they handle the stress, what type of environmental factors they have and last but not least, what type of SNPs (single nucleotide polymorphisms) they have?

    Now we can decipher, as the humans experience different factors in different ways, the nature of diseases is as individual as the people who have them. With the help of genetic, genomic and clinical info, we can predict or identify, about the person’s susceptibility to developing any disease and course of disease and its response to treatment. DNA polymorphism decides, how drugs are absorbed and used and metabolized by the body. We know, some genetic or inherited diseases are due to either monogenic disorder or polygenic disorder. We also know, Biomarkers are specific protein molecules associated with specific disease. Analysis of biomarkers helps us to identify sub-types with in a disease and sub-groups of the patients with same disease.
    This knowledge about the basic elements of human genomes and their differences, both common and rare, is central to the concept of personalized medicine. No doubt, it’s going to change the field of medicine. Our genome is the Big data’ collection of genetic information that’s squeezed into each of our body’s cells. Information is empowerment. Digital information operates with binary digits. But genetic info functions with four type of digits i.e. four bases. It contains all of the instructions, needed to create and maintain a human being

  7. Francesca Tubito

    Awesome!

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