Should I stay or should I go now?
If I go there will be trouble
And if I stay it will be double
– From The Clash’s “Should I Stay or Should I Go?“
Working with patients as they make decisions is one of the core components of genetic counseling. It’s not the only thing genetic counselors do, but we sure do it a lot. Some of these decisions are relatively minor while others can be life-changing, irreversible, and have life and death implications. When the decision does not call for an immediate choice, the patient has some breathing room to weigh the situation and work through the cognitive and psychological issues. In other circumstances, there is the added complication of a time-critical decision that must be made within days or hours. But either way, no matter how much we educate, engage, reciprocally engage, or center the patient, making decisions can be gut-wrenchingly difficult.
All genetic counselors have dealt with this in some way. Should I have a cfDNA prenatal screen? Just for aneuploidy or include some of the microdeletions too? If it’s positive, should I have an amnio? I really want that germline breast cancer panel but those results can be awfully scary, or maybe worse, ambiguous. Should I have a unilateral or bilateral mastectomy? Should I subject my child to a new but unproven treatment for a genetic condition when that treatment may have serious side effects and may not even be effective? Should I let my asymptomatic child who carries a low penetrant pathogenic variant for a hereditary cardiomyopathy participate in high intensity sports like crew or kayaking so they can have as normal a childhood as possible?
The genetic counseling literature often talks about informed choices. But after about the first genetic counseling session in your career, you quickly realize that choices involve a lot more than just informing. Complex emotional and psychological matters come in to play as patients process the information and try to figure out what the different options might mean for them, their families, their emotional states, their finances, and their psychological adaptation to their post-decision lives. It’s not simply a matter of weighing pros and cons. It’s more like trying to piece together a jigsaw puzzle when you don’t have a box cover to tell you what the completed puzzle should look like and you only have a limited time to do it in. How do all these damned pieces fit together to create a coherent picture?
The hardest part is that patients just about never know if a decision is good or bad until after they’ve made it. Sure, sometimes (maybe most of the time? I don’t know), decisions turn out to be the “right” one. But there is no way that patients or genetic counselors can predict the future and reassure one another that the particular patient choice will turn out to be for the best, or at least not for the worst. There are just too many unknowns and unknowables. We think we know ourselves but then we are faced with a new reality and suddenly we don’t know ourselves so well. I didn’t think that early menopause would be this bad. I believed I could terminate a pregnancy if I thought the baby had a profoundly serious condition, but now that I know it, I’m not so sure I can go through with a termination. After having watched our mother die of ovarian cancer and supporting me through my breast cancer treatment and decision about having genetic testing, I was sure my two sisters would be relieved to have the genetic information so they could learn their own risks and act accordingly to reduce their risks. Instead they have gone into a psychological tailspin and one of them isn’t even talking to me anymore.
Then there is the matter of people and their values changing over time. This can alter perspectives on whether a decision made years ago was for the best. For example, a patient might have been an atheist but as they’ve gotten older, they’ve found great comfort in Christianity or Islam or whatever faith and now their views are guided by religious beliefs. Or conversely, deeply religious people may lose their faith after witnessing so much cruelty and senseless suffering in the world. A 30 year old may have been dead set against having children and decided to undergo sapling-oophorectomy to reduce their cancer risks but afterwards has a change of heart and regrets having lost the ability to become pregnant. Someone may have been a staunch supporter of abortion for themselves and others but their personal ethics and philosophy have changed over time and they are wracked with guilt because they now feel that abortion is morally wrong.
Unpredictable externalities may also influence how people come to view their decisions over time. Someone might choose an expensive but unproven lifelong treatment for themselves or their children but then lose their job and their health insurance, leading to deep medical debt and perhaps loss of housing, and to top it off, the medical condition has only worsened over time. Someone reluctantly undergoes genetic testing for Huntington disease to establish the risks for their two siblings, and though the patient thinks it was a bad emotional decision for personal reasons, they take comfort in learning that their siblings do not carry the pathogenic triplet repeat expansion. Shortly thereafter, both siblings die in a pandemic after having refused a vaccination. A woman undergoes a risk-reducing saplingo-oophorectomy but winds up with serious and life-threatening post-operative complications.
I’m not trying to push the pessimitic and unhelpful message to patients that they should just give up and flip a coin or turn to a tarot reading because it is impossible to make good decisions. Instead, we need to help them understand that often there may not be a clear-cut best choice at the time they are making the decision. And genetic counselors should feel free to constructively criticize and explore a patient’s choice if it shows they clearly did not understand the underlying technical information or it does not seem to align with their values, while doing our best to filter our our own biases and counter-transference issues. Patients need to recognize that over time they may change their view of whether their decision was the right one or the wrong one or some mix of the two. They don’t have too much control over the future. But we can help them understand that they have done everything they could to make the best possible decision at that time They are decent, compassionate human beings who are just trying to do the best they can in a very complicated world.
Beyond the genetic counseling sphere, the difficulties of decision making arise in all of our everyday lives. Should I take this job or that job? Is this the best person to hire for the job (I swear that, despite all the interviews and glowing letters of recommendation, you never know what somebody is like as a co-worker until you’ve worked with them)? Should I buy this house or that house? Is this the person I want to marry? Are we at the point where divorce is the best option? Should I attend college or learn a trade and become a plumber or an electrician? Should I stay at home to raise my children or continue working and somehow manage to pay for child care? We can’t know the answers to these questions. We can only do our best and not kick ourselves when life doesn’t turn out as we thought it might.
The DNA Exchange 