Disclosing Genetic Risks: Lessons from the Philosophy of Language

By Michael J. Young

Earlier this month, landmark findings were published in the American Journal of Psychiatry illuminating the effect of disclosing genetic risk for Alzheimer’s disease on older adults’ cognition and memory.  In a case-control study, researchers administered memory function tests to a group of known carriers of the apolipoprotein E4 allele (one of the best studied genetic risk factors for developing Alzheimer’s disease), half of whom were informed of their carrier status, and half of whom were not informed of their carrier status.  They reported “[s]ignificant genotype-by-disclosure interaction effects were observed on several memory rating scales and tests of immediate and delayed verbal recall. Older adults who knew their ε4+ genotype judged their memory more harshly and performed worse on an objective verbal memory test than did ε4+ adults who did not know. In contrast, older adults who knew their ε4− genotype judged their memory more positively than did ε4− adults who did not know…informing older adults that they have an APOE genotype associated with an increased risk of Alzheimer’s disease can have adverse consequences on their perception of their memory abilities and on their performance on objective memory tests. Similar consequences might be expected if other indices of an increased risk of Alzheimer’s disease are disclosed (e.g., neuroimaging or CSF biomarkers of preclinical Alzheimer’s disease.)”

These findings raise profound questions for practitioners who must make regular decisions concerning how to communicate health risk information to patients, and more fundamentally, about what principles and policies ought to govern which findings should be disclosed or disguised.

The study and its implications bear striking correlates to a set of key issues in philosophy of language relating to the meta-descriptive aspects of speech and discourse.  In a series of lectures later published as How We Do Things with Words, philosopher J.L. Austin persuasively argued against a longstanding philosophical tradition that had conceptualized language as a construct that exists solely to describe reality as it is or is imagined to be; Austin reasoned that language can serve not only to describe facts but can also serve to establish new facts by representing them as such.

“We have not got to go very far back in the history of philosophy,” Austin writes, “to find philosophers assuming more or less as a matter of course that the sole business, the sole interesting business, of any utterance–that is, of anything we say–is to be true or at least false.”  There are many ways in which language may be used, Austin contends, such that “if person makes an utterance of this sort we should say that he is doing something rather than merely saying something… suppose for example in the course of a marriage ceremony I say, as people will, `I do’ . . . Or again, suppose that I tread on your toe and say `I apologize’. Or again, suppose that I have the bottle of champagne in my hand and say `I name this ship the Queen Elizabeth’. Or suppose I say `I bet you sixpence it will rain tomorrow’. In all these cases it would be absurd to regard the thing that I say as a report of the performance of the action which is undoubtedly done. We should rather say that, in saying what I do, I actually perform that action… these kinds of utterances are the ones we call performative utterances.”

Philosopher John Searle, a student of Austin, further developed this approach to language and introduced the concept of status-function declarations.  Typically, Searle observes, objects perform certain roles because of their structure. A teacup, for instance, functions to contain and enable the consumption of tea by virtue of its physical shape and material composition.  Through language however, people can create functions through declarative expressions – what Searle refers to as status-function speech acts.  A linguistic community can make something money, for example, by collectively declaring that it is money.  This status issues not from the material structure of the object per se but rather via a unique kind of performative declaration.  In such cases, meaning is used to create facts that can give us new reasons for acting (Searle 2010).

The findings from this month’s study on disclosure of Alzheimer’s risk recapitulate these philosophical insights and provide important lessons for healthcare providers and policy makers.  Acts of conveying diagnoses and health information can serve not only to describe meaningful facts about health and disease, but may also serve to reflexively influence the very states of affairs that they aim to describe.  Appreciating this dual character of diagnosis and clinical discourse can provide instructive clues to practitioners as they consider the difficult issues of when and how to disclose sensitive genetic risk information to patients and families in settings of uncertainty.