Do Women who Receive a Negative BRCA1/2 Risk Result Understand the Implications for Breast Cancer Risk?

BACKGROUND/AIMS: National guidelines endorse using evidence-based tools to identify those at risk for hereditary breast and ovarian cancer (HBOC). This study aimed to evaluate whether women deemed not to be at increased risk of being a BRCA mutation carrier; the majority of those screened, recall, understand and accept the implications of these results for breast cancer risk. METHODS: We conducted an online survey with women (n = 148) who screened negative on a brief HBOC screener. RESULTS: While women tended to accept HBOC screener as accurate (range 9-45; mean 32, SD 5.0), less than half (43%) accurately recalled their result. Only 52% understood that they were at low risk of carrying a mutation, and just 34% correctly understood their breast cancer risk. African American women were less likely to recall (33 vs. 53% respectively, OR 0.5, p = 0.03), understand (42 vs. 63% respectively, OR 0.4, p = 0.02), and accept (mean 31 vs. 33 respectively, ß -2.1, p = 0.02) the result compared to Whites. CONCLUSIONS: Our findings show that those at low risk of carrying a BRCA1/2 mutation had limited understanding of the distinction between mutation risk and breast cancer risk. Theory-based communication strategies are needed to increase the understanding of the implications of being at low risk for hereditary cancers.

Laypeople Are Strategic Essentialists, Not Genetic Essentialists.

In the last third of the twentieth century, humanists and social scientists argued that attention to genetics would heighten already-existing genetic determinism, which in turn would intensify negative social outcomes, especially sexism, racism, ableism, and harshness to criminals. They assumed that laypeople are at risk of becoming genetic essentialists. I will call this the "laypeople are genetic essentialists model." This model has not accurately predicted psychosocial impacts of findings from genetics research. I will be arguing that the failure of the model can be traced to its inability to recognize the complexity of laypeople's attitudes; its incorrect theory of how beliefs, attitudes, and discourse function; and its blindness to how academics' own interests can override the available evidence. More specifically, I suggest that the substantial data about laypeople's deployment of genetics supports what I will call the "laypeople are strategic essentialists model" better than the "laypeople are genetic essentialists model." The strategic essentialists model holds that people tend to store multiple categories, including multiple causal forces, that they deploy "strategically" to serve context-dependent goals. It will be difficult for academics to reorient ourselves to model laypeople as sophisticated strategic essentialists rather than as naïve genetic essentialists. Perhaps a little shift, however, will be of value.

Willingness to decrease mammogram frequency among women at low risk for hereditary breast cancer.

This study aimed to assess women's willingness to alter mammogram frequency based on their low risk for HBOC, and to examine if cognitive and emotional factors are associated with women's inclination to decrease mammogram frequency. We conducted an online survey with women (N = 124) who were unlikely to have a BRCA mutation and at average population risk for breast cancer based on family history. Most women were either white (50%) or African American (38%) and were 50 years or older (74%). One-third of women (32%) were willing to decrease mammogram frequency (as consistent with the USPSTF guideline), 42% reported being unwilling and 26% were unsure. Multivariate logistic regression showed that feeling worried about breast cancer (Adjust OR = 0.33, p = 0.01), greater genetic risk knowledge (Adjust OR = 0.74, p = 0.047), and more frequent past mammogram screening (Adjust OR = 0.13, p = 0.001) were associated with being less willing to decrease screening frequency. Findings suggest that emerging genomics-informed medical guidelines may not be accepted by many patients when the recommendations go against what is considered standard practice. Further study of the interplay between emotion- and cognition-based processing of the HBOC screen result will be important for strategizing communication interventions aimed at realizing the potential of precision public health.

Controversies among Cancer Registry Participants, Genomic Researchers, and Institutional Review Boards about Returning Participants' Genomic Results.

OBJECTIVES: Genomic information will increasingly be used to aid in the prevention, diagnosis, and treatment of disease. Several national initiatives are paving the way for this new reality, while also promoting new models of participant-engaged research. We compare the opinions of research participants in a cancer registry, human genetic researchers, and institutional review board (IRB) professionals about the return of individual-level genetic results (ROR). METHODS: Online surveys were administered to participants in a cancer registry (n = 450) and overlapping questions were compared to our previous online national surveys of human genetic researchers (n = 351) and IRB professionals (n = 208). RESULTS: The majority of respondents agreed that researchers have an obligation to return individual results when they would affect a participant's health. While 77% of registry participants favored ROR if the researcher feels the participant might be interested in the results, only 30% of the IRB professionals and 25% of the genetic researchers agreed with this statement. CONCLUSIONS: Significant differences emerged between the stakeholder groups in several ROR scenarios. Policies that are acceptable to participants, researchers and IRBs, and that ensure human subject protections and facilitate research are needed.

The character of scientists in the Nobel Prize speeches.

This essay describes the ethos (i.e. the character projected to specific audiences) of the 25 Nobel Lectures in Physics, Chemistry, and Physiology or Medicine given in 2013-2015 and the 15 Presentation Speeches given at the Nobel Banquets between 2011 and 2015. A thematically focused qualitative analysis grounded in theories of epideictic discourse indicates the Nobel speakers demonstrated a range of strategies for and degrees of success in negotiating the tensions created by the implicit demands of ceremonial speeches, the scientific emphasis on didactic style and research content, and the different potential audiences (scientific experts and interested publics). Relatively few speeches explicitly displayed goodwill toward humanity instead of primarily toward the scientific community. Some speakers emphasized qualities of goodness in line with social values shared by broad audiences, but some reinforced stereotypes of scientists as anti-social. Speakers were variable in their ability to bridge the substantial gaps in resources for shared good sense.

Participants' Role Expectations in Genetics Research and Re-consent: Revising the Theory and Methods of Mental Models Research Relating to Roles.

The rise of large cohort-based health research that includes genetic components has increased the communication challenges for researchers. Controversies have been amplified over requirements for re-consent, return of results, and privacy protections, among other issues. This study extended research on the impact that the perceived role of "research participant" might have on communication expectations to illuminate research participants' preferences for re-consent. The study employed an online survey of participants in a long-standing cancer genetics registry. Results confirmed previous exploratory findings that research participants endorse multiple mental models of participant roles in research (doctor-patient, collaborator, donor, legal contract, etc.). Regression analyses indicated that high and low salience of different models of the role of research participant are related to different communication expectations. However, the pattern of relationships among roles is relevant. The results of the regression analysis also indicated that preference for mandatory re-consent and its relationship to mental models of roles are related to attitudes of trust, benefits, and informational risks. The discussion identifies implications as including the use of explicit approaches to address role relationships in communication with research participants. It also points to implications for methodological approaches in mental model research.

Views of Cohort Study Participants about Returning Research Results in the Context of Precision Medicine.

BACKGROUND: The practice of biorepository-based genetics research raises questions related to what ethical obligations researchers have to their participants. It is important to explore and include the thoughts of current biorepository participants as we move forward with this type of research. METHODS: Thirty participants (17 cancer patients, 7 cancer-free controls, and 6 relatives) were drawn from the Northwest Cancer Genetics Registry and participated in qualitative interviews lasting between 45 and 90 min. Topics explored in this study include which types of genetic test results participants of large biorepositories expect and would like to receive from research analyzing their samples, as well as thoughts on best practice for conducting this type of research. RESULTS: Cancer cases, controls, and first-degree relatives have differing views on what results they would like to receive from biorepository-based research. Participants across all groups attempted to balance the costs and benefits of returning individual research results. DISCUSSION: In the wake of precision medicine, it is important to describe the range of ways participants in large biorepositories both think and talk about the utilization of their specimens for genetics research.

Consent Issues in Genetic Research: Views of Research Participants.

BACKGROUND: With the arrival of large-scale population-based genomic research studies, such as the Precision Medicine Initiative (PMI), the question of how to best consent participants is significant, and in an era of patient-centered research, few studies have evaluated participants' preferences about re-consent and broad consent. Using quantitative methods, this study evaluates participants' views regarding the acceptability of re-consent and broad consent in subjects from the Participant Issues Project. METHODS: A total of 450 participants were recruited from a cancer genetics registry, including cancer patients, their relatives, and controls. Participants completed a secure online survey. RESULTS: Most participants endorsed re-consent when investigating an unrelated health condition or sharing their de-identified data with an investigator at a different institution. Notification rather than re-consent was preferred when studying a different gene but the same disease. Over 80% of respondents endorsed re-consent when parents of a child gave the original consent and the child has now reached adulthood. Preferences for some scenarios varied by history of cancer at baseline, gender, stage of cancer, or case versus control group. The large majority of participants preferred the option to select broad consent categories of research. CONCLUSION: Understanding research participants' preferences, including their views on the need for re-consent, are critical to the success of the PMI.

Participant views on consent in cancer genetics research: preparing for the precision medicine era.

The Precision Medicine Initiative (PMI) has created considerable discussions about research participant issues including re-consent and how and when to incorporate the patient experience into clinical trials. Within the changing landscape of genetic and genomic research, the preferences of participants are lacking yet are needed to inform policy. With the growing use of biobanks intended to support studies, including the national research cohort proposed under the PMI, understanding participant preferences, including re-consent, is a pressing concern. The Participant Issues Project (PIP) addresses this gap, and here we present data on participant attitudes regarding re-consent and broad consent in research studies. PIP study participants came from the Northwest Cancer Genetics Registry and included cancer patients, relatives, and controls. Thirty telephone interviews were conducted and analyzed using content and thematic analysis. Results indicate that in some scenarios, re-consent is needed. Most participants agreed that re-consent was necessary when the study direction changed significantly or a child participant became an adult, but not if the genetic variant changed. Most participants' willingness to participate in research would not be affected if the researcher or institution profited or if a broad consent form were used. Participants emphasized re-consent to provide information and control of the use of their data, now relevant for tailored treatment, while also prioritizing research as important. In the era of precision medicine, it is essential that policy makers consider participant preferences with regard to use of their materials and that participants understand genetic and genomic research and its harms and benefits as well as what broad consent entails, including privacy and re-identification risks.

Recent rhetorical studies in public understanding of science: Multiple purposes and strengths.

We review rhetorical studies of the public understanding of science that were published in journals since the last major review in this journal (1994-2011). Our review suggests that a vibrant and increasingly sophisticated body of research 1) has pursued Gross's (1994) emphasis on contextual studies and studies emphasizing judgment of scientific rhetorics, 2) is producing a growing body of work designed to develop specific strategies for scientific rhetorics, and 3) has produced a host of studies exploring science-public interactions (rather than producing sustained fora for such interactions, as Gross argued for). It has, however, 4) produced only modest independent development of rhetorical theories.

Public attitudes and beliefs about genetics.

The existing research base on public attitudes about genetics shows that people's attitudes vary according to the specific technologies and purposes to which genetic knowledge is applied. Genetic testing is viewed highly favorably, genetically modified food is viewed with ambivalence, and cloning is viewed negatively. Attitudes are favorable for uses that maintain a perceived natural order and unfavorable for uses that are perceived to change it. Public concerns about control of genetic information and eugenics are evident, but their strength and relevance to policy preference are unclear. The pattern of attitudes can be explained by theories of attitude formation, and the existing base of information can be deepened and given more explanatory and predictive power by integrating future research into the various traditions that theorize attitude formation.

Future health applications of genomics: priorities for communication, behavioral, and social sciences research.

Despite the quickening momentum of genomic discovery, the communication, behavioral, and social sciences research needed for translating this discovery into public health applications has lagged behind. The National Human Genome Research Institute held a 2-day workshop in October 2008 convening an interdisciplinary group of scientists to recommend forward-looking priorities for translational research. This research agenda would be designed to redress the top three risk factors (tobacco use, poor diet, and physical inactivity) that contribute to the four major chronic diseases (heart disease, type 2 diabetes, lung disease, and many cancers) and account for half of all deaths worldwide. Three priority research areas were identified: (1) improving the public's genetic literacy in order to enhance consumer skills; (2) gauging whether genomic information improves risk communication and adoption of healthier behaviors more than current approaches; and (3) exploring whether genomic discovery in concert with emerging technologies can elucidate new behavioral intervention targets. Important crosscutting themes also were identified, including the need to: (1) anticipate directions of genomic discovery; (2) take an agnostic scientific perspective in framing research questions asking whether genomic discovery adds value to other health promotion efforts; and (3) consider multiple levels of influence and systems that contribute to important public health problems. The priorities and themes offer a framework for a variety of stakeholders, including those who develop priorities for research funding, interdisciplinary teams engaged in genomics research, and policymakers grappling with how to use the products born of genomics research to address public health challenges.

Beliefs about heritability of cancer and health information seeking and preventive behaviors.

BACKGROUND: Individuals' beliefs about cancer heritability could affect their health information seeking and health behaviors. METHODS: Data from 5813 English-speaking adult respondents to the 2003 Health Information National Trends Survey were analyzed. RESULTS: Individuals who believed that knowledge of family history or genes can reduce cancer risk were significantly more likely to have ever looked for cancer information. Ever smokers who believed that genes are the main cause of lung cancer were significantly more likely to smoke currently. CONCLUSIONS: Patients need to be educated about genetic susceptibility to cancer in ways that support information seeking and engagement in protective behaviors.

Functions of health fatalism: fatalistic talk as face saving, uncertainty management, stress relief and sense making.

Much research on fatalism assumes that fatalistic statements represent a global outlook that conflicts with belief in the efficacy of health behaviours. Other scholars have suggested a more contextual approach, suggesting that fatalism fulfils personal and social functions. This study analyses 96 in-depth lay interviews in the US, most with low-income members of the general public, about four diseases: heart disease, lung cancer, diabetes and depression. Within these interviews, fatalistic statements always occurred alongside statements endorsing the utility of behaviours for protecting health. This usage pattern suggests that these statements may have useful functions, rather than being simply a repudiation of the utility of health choices. We examine four functions that are suggested by previous researchers or by the participants' comments: stress relief, uncertainty management, sense making and (less strongly) face saving. As these themes indicate, individuals often make fatalistic statements to express an understanding of locally or broadly limiting factors for health efficacy, including genes, spiritual agents, prior behaviours, personality, and other factors.

The psychometric property and validation of a fatalism scale.

In this article, we conceptualised fatalism as a set of health beliefs that encompass the dimensions of predetermination, luck and pessimism. A 20-item scale was developed as a measurement instrument. Confirmatory factor analyses were performed to test the dimensionality of the scale. Three external variables (i.e. genetic determinism, perceived benefits of lifestyle change and intention to engage in healthy behaviour) were used as reference variables to test the construct validity of the scale. Data from a web-based national survey (N = 1218) showed that the scale was unidimensional on the second order, and with good reliability (alpha = 0.88). The relationships between the external variables and the first- and second-order factors provided evidence of the scale's external consistency and construct validity.

Depiction of gene-environment relationships in online medical recommendations.

PURPOSE: This study examines the presentation of genetic and behavioral causation and prevention in websites that make medical recommendations to lay people for four diseases: heart disease, diabetes, lung cancer, and depression. METHODS: A sample of 73 online medical recommendations from major health institutions and information portals were retrieved for content analysis, with a focus on the depiction of gene-environment relationships. RESULTS: The results show a clear preponderance of behavioral causation and recommendations. When genetic information is presented, genetic and environmental factors (including behaviors) are depicted as independent contributors to health outcomes, rather than as interactive. CONCLUSION: This study suggests that interactive depictions of genes and behavior should be considered when genetics is presented in medical accounts of causation and prevention of common, complex diseases.

Assessing hypothetical scenario methodology in genetic susceptibility testing analog studies: a quantitative review.

Hypothetical scenario methodology is commonly employed in the study of genetic susceptibility testing uptake estimation. The methodology, however, has not been rigorously assessed and sizeable gaps exist between estimated and actual uptake for tests that have recently become available. This quantitative review explores the effect of several theoretically based factors on genetic test uptake accuracy among a sample of 38 articles. These factors include verbal immediacy and temporal proximity of test scenarios, method of decision assessment, content of testing detail provided, processing demand required, and study features related to administration and sample. A number of assessed factors influenced uptake accuracy. Among these, temporal proximity of the genetic susceptibility test appeared to be the most consistent. There was also some evidence for effects of verbal immediacy and decision-assessment method on interest in testing. We recommend strategies for increasing accuracy using hypothetical scenario methodology to examine genetic susceptibility test uptake prediction.

Generalization through similarity: motif discourse in the discovery and elaboration of zinc finger proteins.

BACKGROUND: Biological organisms and their components are better conceived within categories based on similarity rather than on identity. Biologists routinely operate with similarity-based concepts such as "model organism" and "motif." There has been little exploration of the characteristics of the similarity-based categories that exist in biology. This study uses the case of the discovery and classification of zinc finger proteins to explore how biological categories based in similarity are represented. RESULTS: The existence of a category of "zinc finger proteins" was based in 1) a lumpy gradient of similarity, 2) a link between function and structure, 3) establishment of a range of appearance across systems and organisms, and 4) an evolutionary locus as a historically based common-ground. CONCLUSION: More systematic application of the idea of similarity-based categorization might eliminate the assumption that biological characteristics can only contribute to narrow categorization of humans. It also raises possibilities for refining data-driven exploration efforts.