Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling

Since the identification of two breast-ovarian cancer susceptibility genes (BRCA1/2), predictive testing for hereditary breast/ovarian cancer (HBOC) has been available. Given the complexity and uncertainties of HBOC and the potential impact of predictive testing on psychological well-being, we offer the test applicants a combination of information-oriented and psychological counselling. In this paper, we describe the multidisciplinary approach for predictive testing for HBOC as a clinical service in Leuven, hereby focusing on psychological and decision counselling practice. Attention is paid to the theoretical framework used for pre-test psychological counselling in Leuven. We discuss three important interacting dimensions of psychological counselling: individual emotional support, decision counselling and support of the family communication process. Decision counselling consists of an evaluation of the cognitive and the emotional processing of the information given and strategies and resources for coping. This serves as a starting point to facilitate free informed decision making. Scenario development is used as a decision aid.     

Hopping,skipping or jumping to conclusions? Clarifying the role of the JTC bias in delusions

Introduction. There is substantial evidence that patients with delusions exhibit a reasoning bias—known as the “jumping to conclusions” (JTC) bias—which leads them to accept hypotheses as correct on the basis of less evidence than controls. We address three questions concerning the JTC bias that require clarification. Firstly, what is the best measure of the JTC bias? Second, is the JTC bias correlated specifically with delusions, or only with the symptomatology of schizophrenia? And third, is the bias enhanced by emotionally salient material?

Methods. To address these questions, we conducted a series of meta-analyses of studies that used the Beads task to compare the probabilistic reasoning styles of individuals with and without delusions.

Results. We found that only one of four measures of the JTC bias—“draws to decision”—reached significance. The JTC bias exhibited by delusional subjects—as measured by draws to decision—did not appear to be solely an epiphenomenal effect of schizophrenic symptomatology, and was not amplified by emotionally salient material.

Conclusions. A tendency to gather less evidence in the Beads task is reliably associated with the presence of delusional symptomatology. In contrast, certainty on the task, and responses to contradictory evidence, do not discriminate well between those with and without delusions. The implications for the underlying basis of the JTC bias, and its role in the formation and maintenance of delusions, are discussed.     

Why humans deviate from rational choice

Rational choice theory predicts that humans always optimize the expected utility of options when making decisions. However, in decision‐making games, humans often punish their opponents even when doing so reduces their own reward. We used the Ultimatum and Dictator games to examine the affective correlates of decision‐making. We show that the feedback negativity, an event‐related brain potential that originates in the anterior cingulate cortex that has been related to reinforcement learning, predicts the decision to reject unfair offers in the Ultimatum game. Furthermore, the decision to reject is positively related to more negative emotional reactions and to increased autonomic nervous system activity. These findings support the idea that subjective emotional markers guide decision‐making and that the anterior cingulate cortex integrates instances of reinforcement and punishment to provide such affective markers.     

Keeping the patient in the center: Common challenges in the practice of shared decision making

Objective

To examine situations where shared decision making (SDM) in practice does not achieve the goal of a patient-centered decision.

Parents'' responses to predictive genetic testing in their children: report of a single case study.

There is a widely held view among health professionals that predictive genetic testing of children for late onset diseases is not desirable clinical practice. Yet, little is known about the views of parents, or their responses, to predictive genetic testing in their children. Since such testing is being carried out in some genetic centres, the opportunity was taken to conduct a single case study of the parents of 2 and 4 year old sisters who were tested for the gene for familial adenomatous polyposis. Interviews before testing, after, and 15 months later showed a stable attitude, that parental responsibility included making decisions about such testing, and that the role of health professionals should be one of information giving rather than decision making. These parents had no regrets about having their children tested and reported no changes in their behaviour towards either the child who tested positively or the child who tested negatively. Using standardised scales, mood was found to be within the normal range both before and after testing in the mother and father. This case study is a first step towards systematic empirical studies determining the consequences of acquiescing to parents' requests for genetic testing in their children.     

Developing a comprehensive,effective patient-friendly website to enhance decision making in predictive testing for Huntington disease

PurposePredictive testing for Huntington disease is a complex decision, requiring in-depth counseling, education, and evaluation. Despite the growth in Web-based decision aids and educational resources, such tools for those considering Huntington disease testing are not available. The main objective of this project was to develop a patient-friendly, comprehensive, accessible Web-based tool to provide accurate information about testing for Huntington disease.MethodsA semistructured interview study was conducted to determine the informational, educational, and support needs of those considering Huntington disease testing. A dedicated predictive testing website was subsequently developed and pilot tested.ResultsThe interview study revealed that an effective website should include interactive diagrams, video documentaries, and personal stories of others who had considered testing. The pilot test revealed that the multidimensional site was easy to navigate and understand and provided an accurate, unbiased overview of the important factors to be considered before undergoing predictive testing.ConclusionThis project demonstrates the use of a mixed-method approach to develop the first tailored website dedicated to predictive testing for Huntington disease. Such an approach enabled the development of a comprehensive, accurate, and effective educational tool that supports informed decision making for people considering predictive testing for Huntington disease in an accessible, nonthreatening manner.Genet Med 2013:15(6):466–472     

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

PurposeAs advances in research have made a growing number of genetic tests available, clinicians will increasingly be faced with making decisions about when offering genetic testing services to children is appropriate. A key factor in such decisions involves determining whether knowledge of genetic health risks might have an impact on children's psychosocial wellbeing.MethodsWe conducted a systematic review of the literature using five online databases to identify studies that assessed the impact of communicating nondiagnostic carrier or presymptomatic genetic test results to children.ResultsA total of 17 articles met the inclusion criteria for this review. These studies used a wide range of methodologies to explore carrier and predictive testing. Although there was little quantitative evidence that receiving genetic test results led to a significant impact on children's psychosocial wellbeing, it was found that methodological inconsistencies, small samples, and reliance on assessments most appropriate for psychopathology make any firm conclusions about the impact of genetic testing on children premature.ConclusionCurrently, there is insufficient evidence to inform a nuanced understanding of how children respond to genetic testing. This suggests a strong need for further research that uses rigorous approaches to address children's emotional states, self-perception, and social wellbeing.     

Social and emotional functions in three patients with medial frontal lobe damage including the anterior cingulate cortex

Introduction. The aim of this study was to explore social and emotional functions in patients with medial frontal damage including the anterior cingulate cortex (ACC).

Methods. Three patients with medial frontal lobe lesions primarily involving the ACC performed tasks on motivational decision making, emotional facial expression recognition, and social cognition, including theory of mind (ToM). Their performance on these tasks was compared with age and education matched healthy controls.

Results. Patient performance on the motivational decision making and social situations tasks did not differ from controls. Selective emotional facial expression recognition impairment for fear was evident in one patient with a unilateral right ACC lesion (patient 3). ToM impairment was present in only one patient with a bilateral ACC lesion (patient 2). In contrast, the two patients with unilateral right ACC lesions had intact ToM (patients 1 and 3).

Conclusions. These findings suggest that medial frontal lobe lesions primarily involving the ACC do not appear to critically disrupt motivational decision making or social situation processing. The ACC plays a role in processing particular types of emotion (fear). Bilateral ACC damage impairs ToM processing, but unilateral damage to the right ACC is not sufficient to disrupt ToM.     

Predictive testing for inherited prion disease: report of 22 years experience

The inherited prion diseases (IPD) are a group of untreatable neurodegenerative diseases that segregate as autosomal dominant traits. Mutations in the prion protein gene (PRNP) were first found to be causal of IPD in 1989, before the molecular genetic characterisation of any other neurodegenerative disease. Predictive testing for IPD has subsequently been carried out at a single UK clinical and research centre for 22 years. We have analysed the uptake, consequences and factors influencing the decision for predictive testing over this period. In all, 104 predictive tests were done on individuals at 50% risk, compared with 135 positive diagnostic tests. Using genealogies from clinical records, we estimated that 23% of those at 50% risk have completed testing. There was no gender bias, and unsurprisingly, there was a slight excess of normal results because some patients were already partly through the risk period because of their age. An unexpectedly large number of patients developed symptoms shortly after predictive testing, suggesting that undisclosed early symptoms of disease may prompt some patients to come forward for predictive testing. Fifteen per cent of predictive tests were done >10 years after molecular diagnosis in a proband. A strong determinant of the timing of testing in these patients was a second diagnosis in the family. IPD may generate infectious prions that might be transmitted by surgical procedures; however, we found no evidence that public health information influenced decisions about predictive testing.     

Attention and memory bias to facial emotions underlying negative symptoms of schizophrenia

Introduction. This study assessed bias in selective attention to facial emotions in negative symptoms of schizophrenia and its influence on subsequent memory for facial emotions.

Methods. Thirty people with schizophrenia who had high and low levels of negative symptoms (n?=?15, respectively) and 21 healthy controls completed a visual probe detection task investigating selective attention bias (happy, sad, and angry faces randomly presented for 50, 500, or 1000?ms). A yes/no incidental facial memory task was then completed. Attention bias scores and recognition errors were calculated.

Results. Those with high negative symptoms exhibited reduced attention to emotional faces relative to neutral faces; those with low negative symptoms showed the opposite pattern when faces were presented for 500?ms regardless of the valence. Compared to healthy controls, those with high negative symptoms made more errors for happy faces in the memory task. Reduced attention to emotional faces in the probe detection task was significantly associated with less pleasure and motivation and more recognition errors for happy faces in schizophrenia group only.

Conclusions. Attention bias away from emotional information relatively early in the attentional process and associated diminished positive memory may relate to pathological mechanisms for negative symptoms.     

“It was the missing piece”: adolescent experiences of predictive genetic testing for adult-onset conditions

PurposePredictive genetic testing for adult-onset conditions, such as Huntington disease, is available to at-risk adults. Guidelines consistently recommend against such testing before adulthood unless there is associated medical benefit. Guidelines, and related commentary, cite a range of potential harms that might be associated with young people undergoing testing, yet evidence is limited. Clinical practice has forged ahead, with research demonstrating that some clinicians are making their own determinations about the best interests of individual young people and are providing testing in specific cases. For the first time, this study reports empirical evidence concerning the process and impacts of predictive testing in mature minors for adult-onset conditions where no medical benefit exists.MethodsFirst-hand accounts from nine young people have been documented. All were aged 16 or 17 years of age when tested. Six tested gene positive.ResultsContrary to existing assumptions, the results convey a range of benefits and absence of harms flowing from testing. Some individuals reported considerable distress associated with institutional processes before testing.ConclusionThe results highlight that young people from families affected by genetic conditions might possess task-specific competence relating to decision making about predictive testing. Further research and longer-term follow-up is required to study the outcomes of testing in young people.Genet Med2013:15(8):643–649     

Clinicians' implicit and explicit attitudes about the legitimacy of functional neurological disorders correlate with referral decisions

Objectives

Uncertainty regarding the legitimacy of functional neurological disorder (FND) remains among some health care professionals. Despite treatment guidelines and consensus recommendations, variability in clinical practice referral decisions persists. Evidence from other conditions suggests such clinical decision making is impacted by practitioners' implicit and explicit attitudes. We aimed to identify whether health care professionals hold implicit and/or explicit attitudes about the legitimacy of FND and whether these attitudes are associated with referral decision making.

Design/Methods

We included 66 health care professionals who work with people with neurological conditions: n = 37 medical doctors, mainly neurologists (n = 18) and psychiatrists (n = 10), and n = 29 doctoral level practitioner psychologists. Participants completed an Implicit Association Test (IAT), Implicit Relational Assessment Procedure (IRAP), a referral decision-making vignette task and self-report measures of explicit attitudes on FND-legitimacy, therapeutic optimism and clinician confidence. Multiple Sclerosis (MS) was used as a comparator condition.

Results

Participants self-reported strong explicit FND-legitimate and MS-legitimate attitudes but demonstrated an implicit FND-illegitimate/MS-legitimate bias. Deeper examination provided by the IRAP data indicated pro-FND-legitimate attitudes, but no bias for or against FND-illegitimate—contrasting the pro-MS-legitimate, anti-MS-illegitimate attitudes for the comparator condition. Attitudes about FND-illegitimacy were negatively associated with likelihood of referral to physical interventions such as physiotherapy. Medical doctors had lower treatment optimism and stronger explicit attitudes that FND is illegitimate than psychologists.

Conclusions

At an implicit level, clinicians are uncertain about the illegitimacy of FND, and such attitudes are associated with lower likelihood of referral to physiotherapy in particular. Improved education on FND among health care professionals is indicated.     

Huntington''s disease predictive testing: the case for an assessment approach to requests from adolescents.

Adolescents who are actively requesting Huntington's predictive testing of their own accord pose a dilemma to those providing testing. In the absence of empirical evidence as regards the impact of genetic testing on minors, current policy and guidelines, based on the ethical principles of non-maleficence and respect for individual autonomy and confidentiality, generally exclude the testing of minors. It is argued that adherence to an age based exclusion criterion in Huntington's disease predictive testing protocols is out of step with trends in UK case law concerning minors' consent to medical treatment. Furthermore, contributions from developmental psychology and research into adolescents' decision making competence suggest that adolescents can make informed choices about their health and personal lives. Criteria for developing an assessment approach to such requests are put forward and the implications of a case by case evaluation of competence to consent in terms of clinicians' tolerance for uncertainty are discussed.     

Contextualizing negative sense of community and disconnection among urban youth of color: “Community…We ain't got that”

We explore the experiences of urban youth of color, as well as perceptions, of feeling disconnected and having an overall negative sense of community (SOC). Drawing on data from 11 focus groups, youth (N = 59) describe their communities and lived experiences. We document several themes put forward through the lens of SOC and community connection that highlight perceived lack of membership, needs fulfillment, influence, and overall emotional connection to their community. Unpacking youth's perceptions of their community, we suggest that—in the face of such realities—community-based organizations, such as those the youth find themselves in, aid in creating connectedness and help heal youth from the effects of social conditions experienced daily.     

Maturity of judgement in decision making for predictive testing for nontreatable adult-onset neurogenetic conditions: a case against predictive testing of minors

International guidelines developed to minimize harm from predictive testing for adult-onset, nontreatable neurogenetic conditions such as Huntington disease (HD) state that such testing should not be available to minors. Some authors have proposed that predictive testing for these conditions should be available to minors at the request of parents and/or of younger adolescents themselves. They highlight the lack of empirical evidence that predictive testing of minors causes harm and suggest that refusing to test minors may be detrimental. The current study focuses on the context of predictive test requests by adolescents younger than 18 years, and presents arguments and evidence that the risk of potential harm from testing such young people is sufficiently high to justify continued caution in this area. A study based on a model of psychosocial maturity found that the 3 factors involved in maturity of judgement in decision making - responsibility, temperance and perspective - continue to develop into late adolescence. There is also evidence that the prefrontal areas of the brain, which are involved in executive functions such as decision making, are not fully developed until early adulthood. Combined with evidence of adverse long-term effects, from research with adults who have undergone predictive testing, these findings constitute grounds for retaining a minimum age of 18 years for predictive testing for nontreatable conditions. Further research on assessment of maturity will assist with reaching a consensus on this issue.     

A conceptual model of the role of communication in surrogate decision making for hospitalized adults

Objective

To build a conceptual model of the role of communication in decision making, based on literature from medicine, communication studies and medical ethics.

Methods

We proposed a model and described each construct in detail. We review what is known about interpersonal and patient–physician communication, described literature about surrogate–clinician communication, and discussed implications for our developing model.

Results

The communication literature proposes two major elements of interpersonal communication: information processing and relationship building. These elements are composed of constructs such as information disclosure and emotional support that are likely to be relevant to decision making. We propose these elements of communication impact decision making, which in turn affects outcomes for both patients and surrogates. Decision making quality may also mediate the relationship between communication and outcomes.

Conclusion

Although many elements of the model have been studied in relation to patient–clinician communication, there is limited data about surrogate decision making. There is evidence of high surrogate distress associated with decision making that may be alleviated by communication-focused interventions. More research is needed to test the relationships proposed in the model.

Practice implications

Good communication with surrogates may improve both the quality of medical decisions and outcomes for the patient and surrogate.     

Is satisficing really satisfying? Satisficers exhibit greater threat than maximizers during choice overload

When selecting from too many options (i.e., choice overload), maximizers (people who search exhaustively to make decisions that are optimal) report more negative post‐decisional evaluations of their choices than do satisficers (people who search minimally to make decisions that are sufficient). Although ample evidence exists for differences in responses after‐the‐fact, little is known about possible divergences in maximizers’ and satisficers’ experiences during choice overload. Thus, using the biopsychosocial model of challenge/threat, we examined 128 participants’ cardiovascular responses as they actively made a selection from many options. Specifically, we focused on cardiovascular responses assessing the degree to which individuals (a) viewed their decisions as valuable/important and (b) viewed themselves as capable (vs. incapable) of making a good choice. Although we found no differences in terms of the value individuals placed on their decisions (i.e., cardiovascular responses of task engagement), satisficers—compared to maximizers—exhibited cardiovascular responses consistent with feeling less capable of making their choice (i.e., greater relative threat). The current work provides a novel investigation of the nature of differences in maximizers’/satisficers’ momentary choice overload experiences, suggesting insight into why they engage in such distinct search behaviors.     

Decision‐making for non‐invasive prenatal testing for Down syndrome: Hong Kong Chinese women's preferences for individual vs relational autonomy

Individual autonomy in antenatal screening is internationally recognized and supported. Policy and practice guidelines in various countries place emphasis on the woman's right to make her own decision and are related to concepts such as self‐determination, independence, and self‐sufficiency. In contrast, the dominant perspective in Chinese medical ethics suggests that the family is pivotal in making medical decisions, hence providing support for relational autonomy. This study explored Hong Kong Chinese pregnant women's preferences for individual vs relational autonomy for non‐invasive prenatal testing (NIPT) for Down syndrome. A qualitative study was carried out using semi‐structured interviews with 36 women who had undertaken NIPT in Hong Kong. The findings show that most Hong Kong Chinese women valued aspects of both relational and individual autonomy in decision‐making for NIPT. Women expected support from doctors as experts on the topic and wanted to involve their husband in decision‐making while retaining control over the outcome. Somewhat surprisingly, the findings do not provide support for the involvement of family members in decision‐making for NIPT. The adequacy of current interpretations of autonomy in prenatal testing policies as an individual approach needs discussion, where policy developers need to find a balance between individual and relational approaches.