"Decoding" Informed Consent: Insights from Women regarding Breast Cancer Susceptibility Testing
Geller, Gail, Strauss, Misha, Bernhardt, Barbara A., Holtzman, Neil A., The Hastings Center Report
The proliferation of tests for genetic predisposition to common but complex adult-onset diseases such as cancer provides us with an opportunity to reconsider informed consent. Such reconsideration is timely given recent appeals to revise our notion of informed consent. It is also timely from a practical point of view, given the recent identification of a relatively frequent breast cancer susceptibility mutation in the Ashkenazi Jewish population and the availability of screening on a population-wide basis. Moreover, there is controversy over whether it is currently appropriate to screen for genetic susceptibility to various types of cancer because of unknown sensitivity and predictive value of the tests currently available, the psychosocial impact of test results on healthy individuals, the lack of proven methods of prevention or treatment if a mutation is detected, and concerns about the involvement of family members.
Despite many limitations and unanswered questions, cancer susceptibility testing is entering medical practice. The informed consent process, as a model for communication, provides a chance to discuss and integrate these limitations into the testing decision. Looking closely at informed consent for cancer susceptibility testing can illuminate the problematic nature of informed consent in any clinical context where there is residual uncertainty about the benefits and risks of tests. This includes many tests available in routine practice.
Our own research on women's reactions to the availability of genetic susceptibility testing for breast cancer dramatically underscores that informed consent ought to be individualized based on patient beliefs and preferences, and take place in the context of an ongoing relationship with a trusted health care provider. We base our analysis on our experience with ten focus groups of women at various levels of risk (affected, at-risk but unaffected, general population) and from a range of ethnic and socioeconomic backgrounds. The focus groups were designed to learn what women would want to know, and how they would make a decision, if they were offered breast cancer susceptibility testing. Women were selected from among respondents to a newspaper advertisement. The eighty women who participated had strong and varied opinions, calling into question the justifiability of "generic" consent to genetic screening. Other qualitative studies of decisionmaking about genetic testing confirm the importance of accounting for consumers' individual beliefs.
Although our focus is on informed consent for breast cancer susceptibility testing, our analysis has broader applicability.
Insights from Consumers Regarding Informed Consent
Two essential goals of informed consent include assuring that patients have substantial understanding and assuring that their decisions to accept or reject interventions are substantially voluntary. The responses of the women who participated in our focus groups point to specific concerns regarding our ability to achieve these goals. There are questions about the relationship between patients' background beliefs and their understanding and the role of provider recommendations in voluntary decisionmaking.
Background Beliefs. How patients understand factual information is contingent upon their background assumptions and personal history. People tend to incorporate information into a framework of pre-existing knowledge and beliefs. Comprehension operates within the context of a strong human need "to make both [our] internal and external worlds intelligible."  To achieve intelligibility, we tend to interpret new information in such a way as to preserve the coherence of our beliefs. This can affect understanding because patients are likely to use previously acquired explanatory mechanisms to explain new factual information. This can manifest itself in several ways.
First, patients may come to an encounter with an idiosyncratic, if not incorrect, understanding of facts, even before the provider has a chance to disclose any new information. …