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.