Genetic Counseling,Professional Values,and Habitus: An Analysis of Disability Narratives in Textbooks

This article analyzes narrative illustrations in genetic counseling textbooks as a way of understanding professional habitus--the dispositions that motivate professional behavior. In particular, this analysis shows that there are significant differences in how the textbooks' expository and narrative portions represent Down syndrome, genetic counseling practice, and patient behaviors. While the narrative portions of the text position the genetic counseling profession as working in service to the values of genetic medicine, the expository portions represent genetic counselors as neutral parties. Ultimately, this article argues that this ambiguity is harmful to the production of a professional habitus that is consistent with espoused professional values concerning respect for persons with disabilities and the promotion of psychosocial counseling.     

Genetic Information,Non-Discrimination,and Privacy Protections in Genetic Counseling Practice

The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, 6 years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information.     

Illness Representations, Self-Regulation, and Genetic Counseling: A Theoretical Review

In this article the Self Regulatory Theory (Leventhal, 1970; Leventhan H., Benyamini, Brownlee, Diefenbach, Leventhal E.A., Patrick-Miller, & Robitaille, 1997) is presented as a framework for conceptualizing genetic counseling. Findings published in the genetic counseling literature are re-interpreted from the perspective of the theory. Clients are seen as active information processors rather than passive receivers of information. Research related to clients' representations of genetic causality of disease and specific genetic conditions is reviewed. Associations of genetic illness representations to self representations, coping and health behaviors are examined, and suggestions are made for applications of the theory in research and clinical practice.     

Nature vs. nurture is nonsense: On the necessity of an integrated genetic,social, developmental,and personality psychology

The field of behavioural genetics unambiguously demonstrates that heritable individual differences exist and are important in explaining human behaviour. Despite this, some psychological perspectives ignore this research. If we wish to comprehensively understand the impact of parenting, the environment, or any social factor, however, we must engage with genetics. In this article, I review research that reveals that genes affect not only our personalities, but the way that we understand and react to the social world. Studies further reveal that notable life events are in part explained by genetic variance. I detail how this could be the case through active, evocative, and passive genetic correlations, and go on to argue that all complex psychological traits are likely the result of multifaceted gene by environment interactions. A mistaken belief that genetic influence implies genetic essentialism, and is therefore tantamount to prejudice, is raised as possible reason why heritability is often ignored in the social sciences. The article concludes with practical suggestions for how we can embrace behavioural genetics as our methods struggle to match the divine complexity of human existence.     

MAXIMUM VARIANCE LINEAR COMBINATIONS FROM PHENOTYPIC,GENETIC, AND ENVIRONMENTAL COVARIANCE MATRICES

Vectors of weights derived from principal components analysis of stan- dardized phenotypic, genetic, and environmental covariance matrices were applied to open-field behavioral scores from mice in order to obtain composite scores with maximum phenotypic (Vp), genetic (Va), and environmental (Ve)variance, respectively. Since Va associated with the composite from the genetic covariance matrix is derived as maximum, and since Vp associated with this combination cannot be as large as that associated with the phenotypic com- posite, heritability of the genetic composite must exceed that of the phenotypic composite. In addition, since Ve associated with the environmental composite is maximum and since Vp associated with this score cannot exceed Vp from the phenotypic composite, Va associated with the phenotypic composite should exceed that from the environmental composite. Thus, heritability of the pheno- typic composite scores should exceed that for the environmental composite. The predicted rank order of the heritabilities was observed. Pooled estimates of the heritabilities of the genetic, phenotypic, and environmental components were 0.24, 0.19, and 0.17, respectively.     

Individual,family, and societal dimensions of genetic discrimination: A case study analysis

Background. As the development and use of genetic tests have increased, so have concerns regarding the uses of genetic information. Genetic discrimination, the differential treatment of individuals based on real or perceived differences in their genomes, is a recently described form of discrimination. The range and significance of experiences associated with this form of discrimination are not yet well known and are investigated in this study. Methods. Individuals at-risk to develop a genetic condition and parents of children with specific genetic conditions were surveyed by questionnaire for reports of genetic discrimination. A total of 27,790 questionnaires were sent out by mail. Of 917 responses received, 206 were followed up with telephone interviews. The responses were analyzed regarding circumstances of the alleged discrimination, the institutions involved, issues relating to the redress of grievances, and strategies to avoid discrimination. Results. A number of institutions were reported to have engaged in genetic discrimination including health and life insurance companies, health care providers, blood banks, adoption agencies, the military, and schools. The alleged instances of discrimination were against individuals who were asymptomatic and sometimes impacted on other asymptomatic relatives. Few surveyed respondents knew of the existence of institutions such as state insurance commissions or the Medical Information Bureau, Inc., which may play roles in redress of grievances or correction of misinformation. Conclusions. Genetic discrimination is variable in form and cause and can have marked consequences for individuals experiencing discrimination and their relatives. The presence of abnormal genes in all individuals makes each person a potential victim of this type of discrimination. The increasing development and utilization of genetic tests will likely result in increased genetic discrimination in the absence of contravening measures. All authors contributed equally to this work. This work was supported by a grant from the U.S. Department of Energy and funding from the Department of Mental Retardation of the Commonwealth of Massachusetts.     

Nature, Nurture, and Individual Differences in Early Understanding of Mind

The ability to understand other minds is a dramatic development that enables children to adapt to their social worlds. In this first genetic analysis of the phenomenon, using 119 same-sex 3-year-old twin pairs, evidence for substantial genetic influence was found. Intraclass correlations for identical and fraternal twins were .66 and .32, respectively; the maximum-likelihoodmodel-fitting estimate of heritability was 67%. Bivariate model-fitting analyses showed that most (66%) of this genetic influence on understanding of mind was independent of verbal ability. Environmental influences on understanding of mind were attributed to child-specific factors,rather than those shared by children in the same family.     

Genetic influences on core self-evaluations,job satisfaction,and work stress: A behavioral genetics mediated model

In this study we investigated the mediated influence of core self-evaluations (CSE) on employee health problems via job satisfaction and work stress, and the degree to which genetic factors explain these mediated relationships. Based on data obtained from a sample of 594 Swedish twins (114 monozygotic twin pairs and 183 dizygotic twin pairs), conventional path analysis results supported the mediated effects of CSE on employee health via job satisfaction and work stress, after controlling for conscientiousness and extraversion. Behavioral genetic analyses showed significant heritability of all four variables. Moreover, we found that the mediated relationships via job satisfaction and work stress are explained by genetic factors, such that the genetic source of job satisfaction and work stress mediates the genetic influence of CSE on health problems. These results highlight the role played by genetic factors in better understanding the relationships between CSE, work attitudes, and health outcomes.     

EPIGENETICS,REPRESENTATION, AND SOCIETY

In recent decades, advances in the life sciences have created an unprecedentedly detailed picture of heredity and the formation of the phenotype where clusters of simplistic reductionist and deterministic views and interpretations have begun to lose ground to more complex and holistic notions. The developments in gene regulation and epigenetics have become a vivid emblem of the ongoing ‘softening’ of heredity. Despite this headway, the outlook and rhetoric widely popular in the twentieth century favoring the ‘gene’ in the ‘gene?genetic plasticity?phenotype?environment’ tetrad have not been successfully tackled but continue to exist in parallel with a new, equally monochromatic, viewpoint championing genetic plasticity. An examination of epigenetics and its presentation in the public sphere, open to a conversation with the social disciplines and philosophy, could address this dichotomy and contribute to the discourse. This article outlines key biological aspects of epigenetics and discusses the language, presentation and wider resonance of this field of life science research.     

Genetic and adoptive motherhood: Stress,marital relationship,and child care support

In this paper we characterize adoptive and genetic motherhood with or without stress indicators. Participants were 86 mothers (36 adoptive, 50 genetic) with children from 0 to 12 years old. They answered questions about focal child and mother profile, marital relationship, child care support and the Lipp's Stress Symptoms Inventory for Adults. Results showed that mothers in both groups reported child care support, but there was more participation of nonrelatives in the care of adoptive children and relatives in the care of genetic children. There was greater marital stability and less conflict with the arrival of the child in the adoptive families and predominance of stress indicators in genetic mothers. We concluded that, although there are differences between adoptive and genetic motherhood, these do not imply advantages for one versus the other. Moreover, marital stability related to the adoption process and sociodemographic characteristics of adoptive mothers may have contributed to lower prevalence of stress.     

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

Contribution of age, genes, and environment to the relationship between perceptual speed and cognitive ability

The aim of this study was to examine genetic influences on cognitive ability in adulthood in the context of the relationship between perceptual speed and cognitive aging. Quantitative genetic analysis of data from the Swedish Adoption/Twin Study of Aging allowed for estimation of the contribution of age, genetic, and environmental effects to the variance in a latent cognitive factor and to the covariance between the cognitive factor and perceptual speed. The sample included 292 pairs of monozygotic and dizygotic twins. both reared together and reared apart, ranging in age from 40 to 84 years. Analysis of components of total variance in the cognitive factor indicated that 90% of the age-related variance in the cognitive factor was shared with perceptual speed and 70% of the genetic variance in the cognitive factor was shared with perceptual speed. The correlation between the speed and cognitive factors was primarily genetically mediated.     

Schizotypy,cognitive performance,and genetic risk for schizophrenia in a non-clinical population

Schizophrenia risk alleles are expected to mediate effects on cognitive task performance, and aspects of personality including schizotypy, in nonclinical populations. We investigated how 32 of the best-validated schizophrenia risk alleles, singly and as summed genetic risk, were related to measures of schizotypal personality and measures of two aspects of cognitive performance, verbal skills (vocabulary) and visual-spatial skills (mental rotation), in healthy individuals. Summed genetic risk score was not associated with levels of total schizotypy or its three main subscales. Similarly, genotypic variation at none of the individual risk loci was related to cognitive performance measures, after correction for multiple tests. Higher overall genetic risk score was, however, associated with lower performance on the mental rotation test in males, with a broad set of loci contributing to this effect. These results imply that there is a lack of linear, genetically-based continuity connecting schizotypal cognition with the expression of schizophrenia itself, and indicate that, for males, higher genetic risk of schizophrenia exerts negative effects on visual-spatial skills, as measured by mental rotation.     

Genetic testing and psychology. New roles, new responsibilities

Advances in genetics and genetic testing promise to catalyze a fundamental change in the practice of medicine. Psychologists have much to offer as psychotherapists, researchers, educators, and policymakers to a society heavily influenced by the genetic revolution. To make the most of new opportunities available to mental health professionals in genetics, psychologists must know basic genetic principles and learn what is new about 21st-century genetics. The core competencies for all health professionals developed by the National Coalition for Health Professional Education in Genetics are related in this article to the significant roles psychologists can play in helping individuals with genetic concerns to cope with vulnerability, optimize family interaction, and improve health behaviors.     

Genes, environment, and race: quantitative genetic approaches

Understanding the origins of racial health disparities is currently a central focus of health-oriented funding agencies and the health policy community. In particular, the role of genetics in the origin of racial health disparities is receiving growing attention and has been susceptible to considerable misinterpretation. In this article, the authors provide a basic discussion about the concept of genes and race, an introduction to quantitative genetics, and some examples of quantitative genetic analyses of health conditions in an underserved population. The intent is to outline the conceptual limitations of exclusivist views of either environmental or genetic determination and to emphasize the coaction and interaction of genes and environments in health.     

Common genetic influences on impulsivity facets are related to goal management,psychopathology, and personality

In this study, we characterized the genetic/environmental commonality and heterogeneity of impulsivity facets and tested the hypothesis that goal-management is central to their common variance. 764 young-adult twins completed the UPPS-P Impulsive Behavior Scale and measures of goal management, personality, and psychopathology. We found common genetic influences across all impulsivity facets except sensation seeking. These impulsivity genetic influences explained 40.0% of variance in goal-management ability. Other results supported three hypotheses concerning heterogeneity: that sensation seeking is independent of other facets, that urgency is more related to psychopathology than lack of premeditation, and that lack of perseverance is more similar to urgency than lack of premeditation. Thus, impulsivity facets show considerable heterogeneity in addition to common variation related to goal-management abilities.     

Intelligence: genetics, genes, and genomics

More is known about the genetics of intelligence than about any other trait, behavioral or biological, which is selectively reviewed in this article. Two of the most interesting genetic findings are that heritability of intelligence increases throughout the life span and that the same genes affect diverse cognitive abilities. The most exciting direction for genetic research on intelligence is to harness the power of the Human Genome Project to identify some of the specific genes responsible for the heritability of intelligence. The next research direction will be functional genomics--for example, understanding the brain pathways between genes and intelligence. Deoxyribonucleic acid (DNA) will integrate life sciences research on intelligence; bottom-up molecular biological research will meet top-down psychological research in the brain.     

A Quiet Revolution: The Birth of the Genetic Counselor at Sarah Lawrence College, 1969

In 1969 Melissa Richter founded the first master’s degree genetic counseling program in the country at Sarah Lawrence College in Bronxville, New York. This article examines the myriad factors that contributed to the birth of the genetic counselor and situates this historical watershed in its social, cultural, academic, and medical context. This article highlights Richter’s prescience and path-breaking vision, evaluates the Sarah Lawrence program during the years of her directorship (1969–1972), and explores how this early foundation subsequently shaped the field of genetic counseling. Close attention is paid to the ethical issues that concerned Richter and their ongoing relevance to genetic health professionals today. This article is based on historical research in archives, consultation of primary sources, and oral history interviews with genetic counselors, geneticists, and allied professionals.     

An evolutionary theory of schizophrenia: cortical connectivity, metarepresentation, and the social brain

Schizophrenia is a worldwide, prevalent disorder with a multifactorial but highly genetic aetiology. A constant prevalence rate in the face of reduced fecundity has caused some to argue that an evolutionary advantage exists in unaffected relatives. Here, I critique this adaptationist approach, and review--and find wanting--Crow's "speciation" hypothesis. In keeping with available biological and psychological evidence, I propose an alternative theory of the origins of this disorder. Schizophrenia is a disorder of the social brain, and it exists as a costly trade-off in the evolution of complex social cognition. Paleoanthropological and comparative primate research suggests that hominids evolved complex cortical interconnectivity (in particular, frontotemporal and frontoparietal circuits) to regulate social cognition and the intellectual demands of group living. I suggest that the ontogenetic mechanism underlying this cerebral adaptation was sequential hypermorphosis and that it rendered the hominid brain vulnerable to genetic and environmental insults. I argue that changes in genes regulating the timing of neurodevelopment occurred prior to the migration of Homo sapiens out of Africa 100,000-150,000 years ago, giving rise to the schizotypal spectrum. While some individuals within this spectrum may have exhibited unusual creativity and iconoclasm, this phenotype was not necessarily adaptive in reproductive terms. However, because the disorder shared a common genetic basis with the evolving circuitry of the social brain, it persisted. Thus schizophrenia emerged as a costly trade-off in the evolution of complex social cognition.