Editorial

Abstract

This study examines the communication that occurs during routine genetic counselling sessions. It involves the qualitative analysis of nine consultations with one member of a clinical genetics team.

The consultations were characterised by a contrast between the sense of certainty apparent in how the clinician talked about the power and promise of the new genetics and the uncertainty communicated regarding the actual information produced by genetic tests and their limitations in solving people's problems. There was also a contrast between how the clinician seemed to control the format and agenda of the consultation and the apparently uncontrollable personal and social implications of the topics discussed. We speculate that this may be explained in terms of the clinician giving some order and certainty in an area of inherent uncertainty, and where great promises are as yet unrealised.     

The Relationship Between Uncertainty and Desire for Feedback: A Test of Competing Hypotheses1

The relationship between uncertainty and desire for feedback was investigated in 2 studies. Results of Study 1 showed support for a curvilinear relationship. People were interested in feedback at high and low levels of uncertainty, as opposed to moderate levels of uncertainty, indicating the activation of both uncertainty reduction and self‐verification motives. In Study 2, the curvilinear relationship with uncertainty was replicated for indirect feedback‐seeking behavior. In contrast, we found a negative relationship between direct feedback seeking and uncertainty, moderated by certainty orientation. People seemed more motivated by self‐verification vs. uncertainty reduction strivings, depending on their certainty orientation. These findings suggest that the relationship between uncertainty and desire for feedback is less simple than previously thought.     

Judgment under emotional certainty and uncertainty: the effects of specific emotions on information processing.

The authors argued that emotions characterized by certainty appraisals promote heuristic processing, whereas emotions characterized by uncertainty appraisals result in systematic processing. The 1st experiment demonstrated that the certainty associated with an emotion affects the certainty experienced in subsequent situations. The next 3 experiments investigated effects on processing of emotions associated with certainty and uncertainty. Compared with emotions associated with uncertainty, emotions associated with certainty resulted in greater reliance on the expertise of a source of a persuasive message in Experiment 2, more stereotyping in Experiment 3, and less attention to argument quality in Experiment 4. In contrast to previous theories linking valence and processing, these findings suggest that the certainty appraisal content of emotions is also important in determining whether people engage in systematic or heuristic processing.     

Uncertainty impairs grating detection performance in the cat

Using behavioral techniques, contrast thresholds for detection of grating patterns by the cat were measured under conditions of certainty and uncertainty. For certainty trials, the same combination of spatial and temporal frequencies was presented throughout a test session, whereas with uncertainty, the cat was unable to anticipate which of two spatial (or temporal) frequencies would be presented on a given trial. For most spatiotemporal combinations, uncertainty served to elevate contrast thresholds by almost .3 log units, a finding that parallels the outcome found in human vision. The uncertainty paradigm may provide a useful inferential tool for determining channel bandwidth in cat vision.     

Am I My Genes? Perceived Genetic Etiology,Intrapersonal Processes,and Health

With the increasing popularity and affordability of DNA sequencing through direct‐to‐consumer DNA sequencing services, it has become apparent that researchers need to understand how the results of sequencing one's DNA affects consumers psychologically and behaviorally. In this paper, the authors discuss several intrapersonal processes that may impact how learning about our own genetic predispositions affects us. In particular, this paper sets out to identify the interplay between three relevant perspectives: genetic essentialist biases, perceived identity, and need for certainty. These interrelated perspectives and the empirical research that supports relevant underlying predictions provide a useful basis from which researchers can further identify testable hypotheses on these intrapersonal perceived genetics effects. Such research has potential far‐reaching implications, not the least of which are in the health domain.     

The Client's Perspective of Genetic Counseling—A Grounded Theory Study

Previous studies of genetic counseling have mainly focused on outcomes defined by researchers or service providers, and have frequently related to changes in reproductive behavior and/or client knowledge. A longitudinal study of 43 families referred to a clinical genetic service was undertaken to ascertain client needs and expectations of the service, and to identify relevant outcomes from the clients' perspective. Semistructured interviews were conducted with each client, prior to and after genetic counseling. The transcribed interviews were analyzed using grounded theory. The need for certainty emerged as a powerful factor that motivated clients to pursue the genetic referral. The client's lay knowledge of the condition, satisfaction of the need for certainty, and the formation of a personalized relationship between the client and the genetics staff significantly influenced the central outcome, identified as a change in the client's psychological adaptation to the genetic condition in the family.     

Genetic Counselors' Judgments of Patient Concerns: Concordance and Consequences

The aims of this prospective study were to determine (a) the concordance between patient concerns and genetic counselors' judgments of these concerns, (b) the predictors of patient and counselor judgments, and (c) the relationship between concordance and patient outcomes. Patients' and counselors' views were sought before and after 131 routine genetic consultations. Before consultations, there was concordance about level of patient concern to within one point in 63% (82/131) of consultations and about type of patient concern in 60–84% of consultations. Lack of concordance in judging level and type of concern was associated with lower satisfaction with information and higher anxiety after the consultation. The biggest predictor of counselor judgment of concern was professional background: doctors judged patients to be more concerned than did nurses. Concordance of concern was predicted by counselors' experience in genetics: less experienced counselors overestimated patient concern. Future research needs to determine whether improving judgment of concern improves patient outcome.     

Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families

Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service providers or adapted from measures used in other areas of healthcare. Many of the ‘patients’ in clinical genetics are healthy but at risk of developing or transmitting a condition. Usually no pharmacological or surgical treatment is offered, although information-giving is an objective of most consultations. We argue that services should be evaluated on the basis of how well they alleviate the effects of disease, from a patient perspective. This paper describes a qualitative study using seven focus groups with health professionals, patients and patient representatives. Social and emotional effects of genetics diseases were identified. Some differences emerged between the effects identified by health professionals and those identified by patients. These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for clinical genetics services.     

A Balancing Act—Telehealth Cancer Genetics and Practitioners’ Experiences of a Triadic Consultation

Telehealth is increasingly used for outreach service in cancer genetic counseling; however what occurs during the consultation and the roles practitioners adopt is largely unknown. Fifteen practitioners participated in semi-structured interviews that explored their roles within telehealth, compared to face-to-face consultations, and the relationship between practitioners during telehealth. As they were not physically present with the patient, most participants felt that telehealth altered the genetic clinician’s role to one of a ‘visiting specialist’. Genetic counselors described undertaking multiple roles during the telehealth process. Two models of interaction were observed. The medical model reduced the interaction to a dyadic consultation by having the genetic counselor off-screen and included minimal clinician meetings and supervision. The triadic co-facilitation model incorporated a high level of information exchange, counselor autonomy and included the counselor onscreen. The co-facilitation model offers a useful framework for telehealth genetic counselling, offering complementary roles between practitioners and efficient service delivery.     

“What is this Genetics,Anyway?” Understandings of Genetics,Illness Causality and Inheritance Among British Pakistani Users of Genetic Services

Misconceptions about basic genetic concepts and inheritance patterns may be widespread in the general population. This paper investigates understandings of genetics, illness causality and inheritance among British Pakistanis referred to a UK genetics clinic. During participant observation of genetics clinic consultations and semi-structured interviews in Urdu or English in respondents’ homes, we identified an array of environmental, behavioral and spiritual understandings of the causes of medical and intellectual problems. Misconceptions about the location of genetic information in the body and of genetic mechanisms of inheritance were common, reflected the range of everyday theories observed for White British patients and included the belief that a child receives more genetic material from the father than the mother. Despite some participants’ conversational use of genetic terminology, some patients had assimilated genetic information in ways that conflict with genetic theory with potentially serious clinical consequences. Additionally, skepticism of genetic theories of illness reflected a rejection of a dominant discourse of genetic risk that stigmatizes cousin marriages. Patients referred to genetics clinics may not easily surrender their lay or personal theories about the causes of their own or their child’s condition and their understandings of genetic risk. Genetic counselors may need to identify, work with and at times challenge patients’ understandings of illness causality and inheritance.     

Immediacy and Certainty in Intertemporal Choice

Time delay and uncertainty are deeply interrelated though the nature of the interaction between these two constructs remains equivocal. The immediacy and the certainty effects provide an easy access to study the relationship between time delay and uncertainty. Three experiments are described which examine the effect of uncertainty on the immediacy effect and the effect of time delay on the certainty effect. We also present analytical arguments that lead to the tentative conclusion that immediacy is more likely to be a derivative of certainty than the reverse. It is further proposed that laboratory experiments may undermine the importance of uncertainty underlying time delays as demonstrated in experiment 4. Theoretical and methodological intricacies associated with separating uncertainty and time delay are discussed.     

Analyzing the Process and Content of Genetic Counseling in Familial Breast Cancer Consultations

A detailed examination of the process of genetic counseling has been identified as a priority area for research by previous authors. This multicenter longitudinal study examined the process and content of genetic counseling in initial consultations with women from high-risk breast cancer families. One hundred and fifty-eight consultations with women unaffected and affected with breast cancer were audio taped and transcribed verbatim. A detailed coding system was developed. Clinical geneticists and genetic counselors demonstrated consistently good practice in giving detailed information on essential aspects related to familial breast cancer such as screening and management, genetic testing, breast cancer genetics, and prophylactic surgery. Eliciting emotional concerns and facilitating communication were found to be inconsistently present. As clinical practice guidelines and the general communication literature emphasize the importance of these factors, this is an area where training in or self-monitoring of such behaviors may assist consultants to further develop these skills.     

Minimizing cost in resource-allocation decisions

Decisions about resource-allocation are faced by us daily, but only recently has published research explored how people make resource-allocation decisions. Previous studies examined resource-allocation tasks where the goal was to maximize payoff with limited resources. In the present study, we extended the literature by examining resource-allocation problems where the goal was to achieve a fixed objective while minimizing the consumption of resources. We asked participants to minimize cost by scheduling two aircraft with differing personnel and fuel requirements under conditions of certainty, risk, and uncertainty. Results indicated that participants could solve such problems surprisingly well, performing best under certainty and worst under uncertainty.     

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial

To increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after accounting for pre-interventional scores, using ANCOVA. Wilcoxon Rank-Sum test was used to compare post-interventional satisfaction. Post-interventional genetics knowledge, risk perception, or anxiety were not significantly different between the two groups after accounting for baseline scores (p = 0.50–0.54), although the data are inconclusive regarding the module’s non-inferiority at a 5% margin. Post-intervention satisfaction scores were generally higher in the GC group than the IC module group. Our IC module has the potential to improve access to clinical genetics services for patients and staff, but it is not suitable for all AJ patients and cannot completely replace the benefits of in-person consultations.     

Genetic counselling: Predicting patient outcomes

Abstract

With the rapid development of genetic testing, the demand for genetic counselling is increasing. Yet there is little known about what makes for effective or efficient genetic counselling. The aim of the current study is to determine the main factors influencing outcomes of genetic consultations. One hundred and thirty one routine consultations conducted in a regional genetics centre were audiotaped, transcribed and coded. The main predictors of outcome tested were pre-interview patient and counsellor expectations; pre-interview patient concerns; length of consultations; counsellor directiveness; and the extent to which social and emotional issues are addressed in the consultation. The main outcomes were the patient's view of the extent to which their expectations were met, their satisfaction with information provided, and concern about the problem they were referred with.

Although there were six significant correlations between the process of consultation and outcome variables, multivariate analyses revealed no significant predictors of any of the outcomes. Using multiple regression analyses, small amounts of variance in patient outcomes were predicted by patient and counsellor variables assessed before the consultation, but none was predicted by any of the process measures made of the consultation. Various explanations are considered to explain the lack of influence of process variables upon outcomes. One possible explanation for these findings is that the consultation has a minimal effect upon patient outcomes. Alternatively, the study, in design or analysis, was not sufficiently sensitive to detect the influential aspects of the consultation.     

The degree of certainty in brain death: probability in clinical and Islamic legal discourse

The University of Michigan conference “Where Religion, Policy, and Bioethics Meet: An Interdisciplinary Conference on Islamic Bioethics and End-of-Life Care” in April 2011 addressed the issue of brain death as the prototype for a discourse that would reflect the emergence of Islamic bioethics as a formal field of study. In considering the issue of brain death, various Muslim legal experts have raised concerns over the lack of certainty in the scientific criteria as applied to the definition and diagnosis of brain death by the medical community. In contrast, the medical community at large has not required absolute certainty in its process, but has sought to eliminate doubt through cumulative diagnostic modalities and supportive scientific evidence. This has recently become a principal model, with increased interest in data analysis and evidence-based medicine with the intent to analyze and ultimately improve outcomes. Islamic law has also long employed a systematic methodology with the goal of eliminating doubt from rulings regarding the question of certainty. While ample criticism of the scientific criteria of brain death (Harvard criteria) by traditional legal sources now exists, an analysis of the legal process in assessing brain death, geared toward informing the clinician’s perspective on the issue, is lacking. In this article, we explore the role of certainty in the diagnostic modalities used to establish diagnoses of brain death in current medical practice. We further examine the Islamic jurisprudential approach vis-à-vis the concept of certainty (yaqīn). Finally, we contrast the two at times divergent philosophies and consider what each perspective may contribute to the global discourse on brain death, understanding that the interdependence that exists between the theological, juridical, ethical, and medical/scientific fields necessitates an open discussion and active collaboration between all parties. We hope that this article serves to continue the discourse that was successfully begun by this initial interdisciplinary endeavor at the University of Michigan.     

Uncertainty and confidence from the triple-network perspective: Voxel-based meta-analyses

Our subjective confidence about particular events is related to but independent from the objective certainty of the stimuli we encounter. Surprisingly, previous investigations of the neurophysiological correlates of confidence and uncertainty have largely been carried out separately. After systematically reviewing the blood oxygenation-level dependent functional magnetic resonance imaging (BOLD fMRI) literature, and splitting studies on the basis of their task requirements, a voxel-based meta-analysis was performed to identify: (i) those regions which are replicably modulated by the uncertainty of environmental conditions; (ii) those regions whose activity is robustly affected by our subjective confidence; and (iii) those regions differentially activated at these contrasting times. In further meta-analyses the consistency of activation between these judgement types was assessed. Increased activation was consistently observed in the salience (anterior cingulate cortex and insula) and central executive network (dorsolateral prefrontal and posterior parietal cortices) in conditions of increased uncertainty; by contrast, default mode network (midline cortical and medial temporal lobe) regions robustly exhibited a positive relationship with subjective confidence. Regions including right parahippocampal gyrus were positively modulated by magnitude across both certainty and confidence judgements. This region was also shown to be more significantly modulated by confidence magnitude as compared with degree of environmental certainty. The functional and methodological implications of these findings are discussed with a view to improving future investigation of the neural basis of metacognitive judgement.     

情绪的确定性评价对信息加工的影响

检验了情绪的效价和确定性评价对个体的信息加工策略选择的影响及其心理机制。结果表明,情绪效价对个体的信息加工方式的影响会受到情绪确定性评价的调节。高确定评价的情绪中,积极情绪的被试更倾向于采用启发式加工,消极情绪的被试更倾向于采用系统式加工。积极情绪中,高确定评价情绪的被试更倾向于采用启发式加工,低确定评价情绪的被试更倾向于采用系统式加工。当个体对自己产生情绪的原因进行合理归因后,情绪效价和确定性评价对个体信息加工方式的影响效应都消失了,说明情绪的效价和确定性评价均以信息的方式对对个体信息加工策略的选择产生影响。     

Knowledge and Expectations of Women Undergoing Cancer Genetic Risk Assessment: A Qualitative Analysis of Free-Text Questionnaire Comments

Individuals undergoing cancer genetic risk assessment have been found to have a poor understanding of the process, which may affect how well they cope with learning their risk. This paper reports free-text data from questionnaires completed by women undergoing a randomised controlled trial of a psychological intervention. Of the 268 women undergoing genetic assessment for familial breast/ovarian cancer risk who were invited to take part in the trial, 157 women returned research questionnaires. Of these, 97 women provided free-text comments upon referral to a cancer genetics clinic, 62 provided comments whilst waiting for risk information (average, moderate or high), and 36 women provided comments following notification of risk. This paper reports a thematic analysis of the free-text data. Themes reflected individuals’ poor knowledge and uncertainty about genetic risk assessment. How well individuals responded to learning their risk depended upon whether expectations had been met. Regardless of risk, individuals undergoing cancer genetic risk assessment are likely to benefit from increased information about its process and timescales, and access to increased psychological support. Free-text comments can provide valuable data about individuals’ expectations and knowledge of genetics services.     

Fragility,uncertainty, and healthcare

Medicine seeks to overcome one of the most fundamental fragilities of being human, the fragility of good health. No matter how robust our current state of health, we are inevitably susceptible to future illness and disease, while current disease serves to remind us of various frailties inherent in the human condition. This article examines the relationship between fragility and uncertainty with regard to health, and argues that there are reasons to accept rather than deny at least some forms of uncertainty. In situations of current ill health, both patients and doctors seek to manage this fragility through diagnoses that explain suffering and provide some certainty about prognosis as well as treatment. However, both diagnosis and prognosis are inevitably uncertain to some degree, leading to questions about how much uncertainty health professionals should disclose, and how to manage when diagnosis is elusive, leaving patients in uncertainty. We argue that patients can benefit when they are able to acknowledge, and appropriately accept, some uncertainty. Healthy people may seek to protect the fragility of their good health by undertaking preventative measures including various tests and screenings. However, these attempts to secure oneself against the onset of biological fragility can cause harm by creating rather than eliminating uncertainty. Finally, we argue that there are good reasons for accepting the fragility of health, along with the associated uncertainties.