Investigators and institutional review boards should integrate plans about the appropriate disclosure of individual genetic results when designing research studies. The ethical principles of beneficence, respect, reciprocity, and justice provide justification for routinely offering certain results to research participants. We propose a result-evaluation approach that assesses the expected information and the context of the study in order to decide whether results should be offered. According to this approach, the analytic validity and the clinical utility of a specific result determine whether (...) it should be offered routinely. Different results may therefore require different decisions even within the same study. We argue that the threshold of clinical utility for disclosing a result in a research study should be lower than the threshold used for clinical use of the same result. The personal meaning of a result provides additional criteria for evaluation. Finally, the context of the study allows for a more nuanced analysis by addressing the investigators' capabilities for appropriate disclosure, participants' alternative access to the result, and their relationship with the investigators. This analysis shows that the same result may require different decisions in different contexts. (shrink)

The National Institutes of Health and other federal health agencies are considering establishing a national biobank to study the roles of genes and environment in human health. A preliminary public engagement study was conducted to assess public attitudes and concerns about the proposed biobank, including the expectations for return of individual research results. A total of 141 adults of different ages, incomes, genders, ethnicities, and races participated in 16 focus groups in six locations across the country. Focus group participants voiced (...) a strong desire to be able to access individual research results. Recognizing the wide range of possible research results from a large cohort study, they repeatedly and spontaneously suggested that cohort study participants be given ongoing choices as to which results they received. (shrink)

Over the past decade, there has been an extensive debate about whether researchers have an obligation to disclose genetic research findings, including primary and secondary findings. There appears to be an emerging (but disputed) view that researchers have some obligation to disclose some genetic findings to some research participants. The contours of this obligation, however, remain unclear. -/- As this paper will explore, much of this confusion is definitional or conceptual in nature. The extent of a researcher’s obligation to return (...) secondary and other research findings is often limited by reference to terms and concepts like “incidental,” “analytic validity,” “clinical validity,” “clinical relevance,” “clinical utility,” “clinical significance,” “actionability,” and “desirability.” These terms are used in different ways by different writers to describe obligations in different sorts of cases. -/- Underneath this definitional confusion is a general notion, supported by much of the literature, that findings only need to be disclosed when they surpass certain presumably objective or measureable thresholds, such as medical importance or scientific reproducibility. The problem is that there is significant variability in the way that these terms and concepts are used in the literature and, as such, in defining the scope of an obligation to return findings that surpasses the relevant thresholds. -/- The goal of this paper is to analyze the definitional muddle underlying the debate about returning genetic research findings, with the hope of answering a few questions. First, what is the range of definitions being used in this debate? Based on an extensive literature review, Part 1 will lay out a range of articulated definitions for each relevant term, with the goal of categorizing them into a handful of distinct types. Part 2 explains the definitional redundancy and confusion in the current literature, and, drawing from the terminological patterns identified in Part 1, outlines more cohesive building blocks to inform the development of future disclosure frameworks.Our minimum goal in articulating these conceptual building blocks is to promote clearer articulations of, and distinctions between, future disclosure frameworks. More ambitiously, we suggest which definitions and conceptualizations we consider most appropriate to use in future disclosure frameworks. Here, we seek to balance benefits to participants through the disclosure of important information with the minimization of undue burdens on individual researchers and the research enterprise more generally. -/- Our analysis builds upon the central philosophical distinction between concepts and conceptions. The basic idea is that the “concept” of X refers to the general (and relatively uncontroversial) structure/shape of X, while various “conceptions” of X are more particular, filled out, and controversial elaborations of the concept. In other words, “concepts” of X will be formal representations of X, while “conceptions” of X will be substantive interpretations of the key elements and relationships operating within that formal framework. (Implicit in this distinction is an important point about the nature of disagreement – namely, that in order for two or more parties to “disagree” about X as opposed to simply talk past one another, there must be at least enough shared agreement about X to know that the parties are referring to the same thing. A concept of X provides this point of common agreement, while competing conceptions of X mark the areas where disagreement arises.) In this paper, we will employ this distinction in a fundamental way to clarify exactly where the primary disagreements arise in the debate over disclosing genetic research findings. -/- We propose that, underlying all the seeming confusion and disagreement, there are three central and widely agreed upon concepts at work in this debate—validity, value, and volition. The first two concepts concern the nature of the information itself. An obligation to disclose only exists when findings are valid and have value but there are competing conceptions of how to determine or define validity and valuableness. The third concept—volition—pertains not to the information but rather to the person to whom it will be disclosed. Does that person want or not want the information, and what is the best way of determining this? Here, too, competing conceptions arise. Our key point, though, is that almost all of the ethical disagreement arises because of competing conceptions of these three concepts. Understanding and appreciating this key point can help to refocus the substantive debate by providing some common ground to start from in determining how best to interpret these shared concepts. This refocusing can, ideally, produce more productive debate and facilitate some progress in resolving it. (shrink)

The main public health advantages of examining gene by environment interactions in externalizing behavior lie in the realm of personalized interventions. Nevertheless, the incorporation of genetic data in randomized controlled trials is fraught with difficulties and raises ethical questions. This paper has been written from the perspective of developmental psychologists who, as researchers, see themselves confronted with important and in part new kinds of ethical questions arising from G × E research in social sciences. The aim is to explicate and (...) discuss ethical questions, based on the conviction that what is ethically salient in a research setting will also be relevant in that area of public healthcare incorporating research findings. The ethical questions discussed include: whether it is ethically responsible to withhold an effective treatment; to what extent genetic results should be disclosed; whether researchers should be allowed to collect genetic data of both child and parent; and what are costs and benefits of personalized interventions based on screening. We made an attempt to address these questions, but it is up to researchers to determine whether the solutions are suitable for their G × E research in social sciences. (shrink)