Negotiating Responsibility: Case Studies of Reproductive Decision-Making and Prenatal Genetic Testing in Families Facing Huntington Disease

Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.     

Risk-Reduction Surgery Decisions in High-Risk Women Seen for Genetic Counseling

Women at greatest risk for hereditary breast and ovarian cancer may consider prophylactic removal of breasts or ovaries as a risk-reduction measure. This report describes uptake of risk-reduction mastectomy (RRM), risk-reduction oophorectomy (RRO), and related factors in 62 high-risk women who received genetic counseling. Seven (11%) participants underwent RRM and 13 (21%) underwent RRO. Of these women, 37% did not have BRCA testing, suggesting other factors influence decisions to undergo surgery. Women who had indicated (pre-genetic counseling) their intent not to have surgery chose not to have surgery. Information received during genetic counseling that women perceived as being most important for influencing risk-reduction surgery decisions was BRCA test result (positive or negative), followed by discussion of family cancer history. Reasons for indecision about risk-reduction surgery included genetic testing results, concerns about surgery, timing in life, and early menopause. The findings enhance our understanding of information that is helpful to women considering this surgery.     

NSGC Foundations—Then,Now, and Tomorrow

This 2004 Presidential Address was presented at the annual education conference of the National Society of Genetic Counselors in Washington DC on October 9, 2004.     

Factors Influencing Uptake of Genetic Testing For Colorectal Cancer Risk in an Australian Jewish Population

There is a significant excess of colorectal cancer in the Australian Ashkenazi Jewish community. This excess can partially be attributed to inherited factors that are over represented in this population, such as the APC variant I1307K, which is associated with a modest increase in colorectal cancer risk. There is currently only sporadic clinical genetic testing offered for this variant, as neither the exact increase in cancer risk and therefore the appropriate screening strategies for I1307K carriers, nor the acceptability of such testing in Jewish communities have been determined. This study reports a high acceptability of such genetic testing within a community sample of 300 Australian Jewish individuals—94% of participants would have a test for predisposition to colorectal cancer and a majority would make this decision based on the desire for information for their families and to decrease their own cancer risk. Some concerns were noted about genetic testing for cancer predisposition, including insurance discrimination, test accuracy and confidentiality.     

An Investigation of Genetic Counselors' Discussions of Genetic Discrimination with Cancer Risk Patients

Twenty-five genetic counselors who see familial cancer risk patients were interviewed about their definitions of genetic discrimination, perceptions of patient risk for discrimination, frequency and type of discrimination experienced by their patients, sources of information about discrimination, and what they tell patients about genetic discrimination. There was variability in participant definitions and content of discussions of genetic discrimination. Although 82% regarded risk to be low to theoretical, 40% reported possible instances of genetic discrimination, including insurance companies requiring results to cover procedures, denial of life/health insurance, social discrimination, and employment discrimination. Ninety-six percent of the sample reported always or almost always discussing genetic discrimination, and one or more of the following: insurance discrimination risks, protective legislation, no known cases positively documenting discrimination, strategies to avoid discrimination, and uncertainty of protective measures. The majority use current literature and research as information sources. Practice, policy, and research implications are discussed.     

Uptake of BRCA1 Genetic Testing in Adult Sisters and Daughters of Known Mutation Carriers in Norway

This study was undertaken to examine transmission of information to first-degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life-saving health care was not disseminated to at-risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first-degree relatives, aged 18 years or older (84 females, 88 males). Forty-four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63% of the females underwent genetic testing compared with 24% of the males (p<0.05). The overwhelming majority of adult females at risk opted for genetic testing. Males with daughters more frequently than males without daughters asked for testing. The findings give neither reason to reconsider legislation on privacy, nor for us to consider more aggressive methods of contacting relatives.     

A Prospective Comparison Study of Different Methods of Gathering Self-Reported Family History Information for Breast Cancer Risk Assessment

Currently there is much debate regarding the ability of mathematical models incorporating epidemiological information or mutation-based risk algorithms to accurately predict a woman's risk of developing breast cancer. Without access to accurate family history information these models have limited use. This study compares different methods of gathering family history information and the impact on subsequent risk assessment. These methods were compared to the gold standard interview with a trained genetics' professional. The amount and accuracy of information provided by primary care doctors' letters was found to be poor and better information was obtained by sending a postal questionnaire directly to the patient. Because of the high number of low-risk women referred to clinic a questionnaire (the FCAT) was designed to provide reassurance and piloted as part of this study. This paper highlights the importance of using appropriate methods to gather the family history information. It presents evidence for the importance of a skilled assessor and the need to allow time for women to discuss the importance of this information with their family.     

Unravelling the relationship between populism and belief in conspiracy theories: The role of cynicism,powerlessness and zero-sum thinking

In recent years, it has been argued that conspiracy beliefs and populist attitudes go hand in hand. Despite their theoretical and empirical similarities, it remains unclear why these constructs are so closely associated. Across three studies, we examined the processes underlying the relationship between belief in conspiracy theories and populist attitudes. Study 1 (Greece, N = 275) and Study 2 (United Kingdom, N = 300) revealed that the relationship between populist attitudes and conspiracy beliefs is mediated by political cynicism and zero-sum thinking. In Study 3 (USA, N = 300, pre-registered), we use a vignette of a fictitious country to experimentally show that having a newly elected populist party in power (as compared to a well-established party) reduced participants' tendency to believe conspiracy theories. Moreover, this was due to increased empowerment, decreased political cynicism and decreased zero-sum thinking. These findings reveal various complementary mediators of the link between populist attitudes and conspiracy thinking and suggest that electing a populist party in power may reduce conspiracy beliefs among the public.     

Regional grey matter volume in the posterior cingulate cortex predicts positive risk-taking: A moderation model

Positive risk-taking is a crucial element of individual creativity and social development. However, little is known regarding the relation between individual neural differences and positive risk-taking. In addition, critical thinking (CT) and gender have been proven to be two important individual-specific factors associated with risk-taking behaviour, and different levels of CT and gender may have diverse effects on the relationship between brain structure and positive risk-taking. The present study examined the relationship between positive risk-taking and regional grey matter volume (rGMV) in 292 healthy participants. The results showed that positive risk-taking was significantly positively associated with the rGMV of the posterior cingulate cortex (PCC). In addition, this study investigated individual differences in critical thinking and found that it moderated the relationship between rGMV and positive risk-taking. Individuals with lower CT had a stronger association between rGMV and positive risk-taking. Further analysis showed that for males, a greater rGMV was significantly linked to higher positive risk-taking tendency. These findings suggest that PCC evaluates risk and serves as a behavioural adaptation hub for positive risk-taking. This study thereby contributes to the literature on individual differences in brain structure and risk-taking by elucidating the moderating effects of CT and gender in healthy adults.     

How Can Contextual Variables Influence Creative Thinking? Contributions from the Optimal-Level of Arousal Model

More and more research is showing how different environments can lead to greater or lower creative skills. The purpose of this concept paper is to introduce a novel application of the optimal-level of arousal model that could address inconsistencies present in the literature. After introducing possible definitions of creativity, I discuss the optimal-level of arousal theory and how considering the “arousal” and “mood changing” potentials of contexts could enlighten findings related to inter-individual differences, domain-specificities, developmental aspects, and gender differences. Among other things, this model will clarify the factors influencing motivation to display creative skills which could improve the external validity of creativity studies. Examples of the kinds of hypotheses that can be tested by applying this model in future creative studies will also be proposed.