-Joni Mitchell, “You Turn Me On, I’m A Radio”
I love my profession. My heart belongs to my wife, but that’s a different sort of love.* I love my job because it affords me the privilege of being admitted into the deep recesses of patients’ emotional landscapes as they make complicated decisions and experience life-altering events. And I love genetic counseling because it let’s me believe that my skills and education are making a dent in this hard, hard world. I hope that I am helping reduce the emotional and physical suffering from genetic disease and that I make patients’ lives better in small or big ways.
Or perhaps I am unrealistically romantic. It could be that for many patients genetic counseling doesn’t amount to a hill of beans. Maybe I get more out of this relationship than they do.
Intimate relationships are, by their nature, plagued by doubt. But unexplored doubt only festers. So let me ask a very difficult question: Would it make a heck of a lot of difference to the world if the profession of genetic counseling abruptly vanished? Who would notice?
We like to think that we are critical to Mission Healthcare. And no doubt we can all supply a fistful of anecdotes to support our case. This patient was given inaccurate information by her physician and almost had an unnecessary mastectomy before she saw me. Or how about that physician who told the patient she had Huntington disease when in fact she had a normal number of repeats? That poor woman was beside herself. A patient last week said I was the only one who could help her come to grips with her child’s diagnosis, and she finally felt like she and her husband could get on with the business of being a family again. And then there was that evil dragon of an insurance company I slew the other day.
To be sure, these anecdotes are important to me; they keep my heart smokin’. But my head asks “How do we know that somebody else couldn’t do our job as well, if not better, or that our jobs are even necessary?” Where are the studies that compare genetic counselors to other healthcare providers, or to smart phone apps for that matter? There are a few studies, but they are limited by small sample sizes or questionable outcome measures like information recall and anxiety. Which genetic counseling patient isn’t rightly anxious and wouldn’t it be more useful to help them cope with their anxiety rather than trying to make it poof-disappear?
So if genetic counselors weren’t here, maybe some people would never quite grasp the subtleties of x-linked inheritance, the mechanics of adjacent 1 segregation, or the bayesian likelihood that they will have a child with spinal muscular atrophy. Who knows if patients even care about these matters? We all know that knowledge has very little to do with decision-making or adaptation and patients will still be just as anxious. And if prenatal diagnosis ceased to exist, the net result would be an increase in the number of births of children with Down syndrome . One might argue this is not exactly a public health emergency or a critical failure of the healthcare system.
How can I doubt something I have been doing for three decades? Well, the doubt is mostly in my head, not in my heart. So I challenge you all to restore my faith in this relationship. Prove our value to patients and the healthcare system. Go out and do the studies. Measure all kinds of outcomes – psychosocial adaptation, public health measures like reducing the incidence of serious cancers, quality of decision making (how come nobody tries to measure whether patients make good decisions or bad decisions?), empowerment, perceive personal control, whatever. Do them all. Let’s finally listen seriously to Shoshana Shiloh, Marion McAllister, Barb Biesecker and the other researchers who have been prodding us for years to examine genetic counseling outcomes. But then be prepared to take a long, hard look at ourselves, what we do, if we should even be doing it, question our assumptions and ethos, and think about how we should change the very nature of genetic counseling. Let’s be sure the relationship is as rewarding for our patients as it is for us. Make the fire in my heart spark some passion in my head.
* – My love for my wife is better evoked by this verse from a Tom Waits song:
In this land there’s a town/In that town there’s a house/ In that house there’s a woman/And in that woman there’s a heart that I love.