Genomic Testing, Reflective Equilibrium and the Right Not To Know

By Seán Finan

Almost any test can return incidental results. An incidental result is something demonstrated by the test but not an answer to the test’s original question. Trying on a new pair of trousers, for example, can tell you whether or not they fit. It can also return the incidental result that the holiday feasting hadn’t been as kind to your waistline as you had hoped. Incidental results in genetic testing can be even more alarming. Whether done for clinical or research purposes, genetic tests can reveal a range of mutations, markers and predispositions far beyond the range being tested for. As technology advances, it expands the breadth of possible results.

Incidental results can often impart life changing information. Many can be a cause for dramatic but potentially life saving medical intervention: the presence of BRCA1 and BRCA2 variants that indicate an increased risk of breast cancer, for example.Where incidental results suggest that a patient might have an increased risk of developing a condition in the distant future, that information might allow them to act immediately to mitigate that risk. Genetic testing might also reveal inherited or inheritable mutations that could be crucial information for a patient’s entire family. Even outside the realm of disease, a genetic test might reveal something that could have huge psychological or social ramifications for a patient: for example, a test might reveal true paternity. However, the potentially life altering nature of some of these findings, in contexts where they are not being looked for or even expected, has led to questions about whether they should be revealed to the test subject at all.

Some hold that it is a basic requirement of medical diligence and duty to test for certain markers. Guidelines issued by the American College of Medical Genetics and Genomics (AMCG) recommended that, regardless of the reason for a genetic test, medical professionals should also test for several dozen other specific mutations associated with a variety of common and uncommon disorders. The report also notes that in certain circumstances, patients can and should be informed of incidental results against their wishes.

In contrast, the idea that a patient might have a “right not to know” about the incidental findings has gained support in other fora. A 2013 report by the Presidential Commission for the Study of Bioethical Issues recommends that doctors warn patients in advance that their tests might throw up unexpected results. The report emphasizes, however, that individual freedom, autonomy and the right of the patient to choose not to know should be prioritized. While we may see the sense in not causing a patient any undue burden or suffering that might come with an unexpected diagnoses, a right to remain ignorant raises some problems. First, respect for individual autonomy usually assumes properly informed consent. By their very nature, some incidental results are not foreseen or foreseeable. Patients in these cases are refusing to be informed before they know what they might be informed about. Second, past judgments may and often do conflict with present interests. Humans are notoriously bad at predicting what will make them happy now and what choices will make them happier in the long run. It would be difficult to predict, for example, that I would prefer overall to remain blissfully unaware of an increased risk of cancer and develop it later, rather than find out about my risk and face the stress and worry of potentially successful preventative measures now.

What struck me was how large the difference of opinion on what the morally appropriate course of action for medical professionals can be, even on a relatively small issue and among a relatively homogenous population of moral actors. Two people who both begin with Beauchamp and Childress’ fundamental four tenets of bioethics (autonomy, nonmaleficence, beneficence and justice) as the foundations of their ethical analysis can finish with completely different judgments about what should be done the same concrete situation. The situation becomes more complicated when cultural specificities bring other founding principles and other contextual concerns.

For example, a recent article on the ethics of CRISPR/Cas9 technology highlighted the particular perspective of Jewish bioethics. It noted that a “central tenet of Jewish law, which takes precedence over virtually all other religious commandments, is that a human life has infinite value”. It follows, the article argued, that a bioethics based on Jewish moral philosophy would not only sanction but actively require research into technologies like CRISPR/Cas9 that have the potential to save lives. I began to wonder about the application of this tenet in other contexts. I’m far from an expert on the intricacies of Jewish bioethics but it seems to me that the same tenet would positively oblige a medical professional in possession of incidental results to inform the patient where those results indicated any increased risk of disease, especially where steps might be taken to mitigate that risk. The tenet might oblige the doctor to inform, even against the express wishes of the patient.

In contrast, a recent report explored particular aspects of Islamic law and culture which might weigh against revealing certain incidental results. First, it noted that many diseases are highly stigmatized in the Middle East and patients often hide their conditions. The good name of a family or tribe is of significant cultural value in many parts of the Middle East and “[b]eing associated with a hereditary condition can have dire social repercussions for an entire family or tribe”. Second, it noted that paternity is an even more sensitive subject for many communities in the Middle East than it is in the West. The report goes so far as to recommend that incidental findings related to misattributed paternity should not be disclosed and that testing should be designed so as to avoid the possibility of revealing paternity, insofar as possible.

Faced with all these conflicting guidelines and inconsistent moral principles, how should medical professionals act? How should they think about moral decision-making? As far as methods go, the process of reflective equilibrium, as outlined by John Rawls, has become the go-to mode of moral reasoning for many bioethicists.

Rawls’ method originally consisted of two steps. First; assemble a group of competent, intelligent reasoners and ask them to pronounce moral judgment on a number of concrete moral dilemmas. These judgments are to be made by moral instinct alone, without resort to any overarching moral theory or architecture (such as utilitarianism, Christian morality, etc). Second, examine those judgments to distill their underlying principles. Third, go back and forth between principles and judgments, pruning and modifying each as necessary to ensure that they cohere with each other and produce acceptable judgments any new concrete cases that fall to be judged. Rawls originally argued that the internal coherence of the resulting construct was enough to justify the moral principles. However, continued criticism forced him to concede internal coherence is no guarantee of moral truth: that a coherent fiction is still a fiction. So, the original version was dubbed “Narrow Reflective Equilibrium” and an update was introduced, aptly named “Wide Reflective Equilibrium”.

Wide reflective equilibrium tries to get around the justification objection by introducing new considerations into the moral calculation: considerations that are not solely dependent on coherency with other beliefs and judgments for their justification. The idea is that these independent moral principles can then be used to buttress the derived moral principles. For example, in the concrete case of invasive surgery, our instinctive moral judgment might be that the patient’s informed consent is required. From this judgment, we might derive the moral principle that informed consent is a necessary pre-condition for medical treatment and we might be happy to enforce this principle in other concrete cases. For the independent support, we might point to the principle that a respect for human dignity requires a respect for human autonomy, or to the principle that people are to be treated as ends in themselves, not means.

However, the example of incidental findings seems to show that the moral reasoning process does not have a neat or tidy end. Suppose a doctor, who operates under the AMCG guidelines and feels it is her duty to inform a patient of any relevant incidental finding encounters a patient who is at risk of becoming a social pariah in his community if it becomes known that he has a genetic illness? Or suppose that a doctor, who is in possession of incidental findings that indicate a serious but treatable condition and who holds to the Jewish tenet that he should do everything possible to save life, encounters a patient who invokes here “right not to know”. The point is that while introducing external, independent moral principles into the process of reflective equilibrium can help alleviate the circularity problem but those external principles might be fundamentally incompatible. They can leave the entire, carefully constructed moral framework absolutely incoherent. Ultimately, reality is messy, cases are individual and guidelines, whether religious, philosophical or governmental can only take us so far. The only sustainable rule of thumb might be the unfortunately unhelpful “do the right thing”.

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