Genetic Influence Helps Explain Variation in Human Fertility: Evidence From Recent Behavioral and Molecular Genetic Studies

To search for genetic influence on human fertility differentials appears inconsistent with past empirical research and prior interpretations of Fisher's fundamental theorem of natural selection. We discuss Fisher's theorem and give reasons why genetic influences may indeed account for individual differences in human fertility. We review recent empirical studies showing genetic influence on variance in fertility outcomes and precursors to fertility. Further, some of the genetic variance underlying fertility outcomes overlaps with that underlying fertility precursors. Findings from different cultures, different times, different levels of data, and both behavioral and molecular genetic designs lead to the same conclusion: Fertility differentials are genetically influenced, and at least part of the influence derives from behavioral precursors that are under volitional control, which are themselves genetically mediated.     

浮现理论及其对第二语言获得年龄效应的新解释

近年来,来自认知行为实验、认知神经科学的研究结果对第二语言获的关键期假设提出了质疑。浮现理论对第二语言获得的年龄效应提出了新的解释,该理论认为在第二语言获得中并不存在先天决定的关键期,第二语言的获得年龄效应是由双语之间的相互作用、相互影响决定的,即第一语言的防守和第二语言同第一语言间的竞争两种机制决定着第二语言的获得的程度。     

A Transdisciplinary Perspective Concerning the Origin of the Species: The Migratory Theory of Genetic Fitness

Although the Neo-Darwin Theory of Evolution is one of the most celebrated theories in science, nonetheless it has received many criticisms. These criticisms are documented and a new transdisciplinary theory of origin is introduced. Darwin's original argument was that natural selection, through heritable changes, changed simple organisms over time. These heritable changes are responsible for the complex plethora of life seen around us today. Darwin's original theory, however, was deconstructed after the fact into a mutation-based theory. This mutation-based theory in its current form is an insufficient and indeed unnecessary transdisciplinary explanation. A subsequent statistical comparison between the six extant scientifically based primary theories of origin was undertaken and based on current biological knowledge a statistically significantly (p < .05) best fit phenotypic model emerged.     

The Spiritual Task of Religion in Culture: An Evolutionary Perspective

It is quite impossible to consider human nature within an evolutionary perspective if we leapfrog over culture and establish some direct relation between cosmic and human evolution without taking culture into consideration. Culture holds a significant place within the structures of nature, as the "epic" of evolution portrays nature—cosmic, physical, and biological. Religion emerges within culture, and it plays a role in organizing the human consciousness and in generating the stories, rituals, and morality that constitute the organization of consciousness. Since organization of consciousness determines how culture is conducted, and since we face a global crisis today because of the ways we are conducting our culture, religion's role is critical for the future of culture. Wherever it is attempted, whether in terms of traditional or posttraditional modes, the fashioning of adequate worldviews, rituals, and morality is an essentially religious activity. For both traditional and posttraditional modes, the task is to weave structures of meaning with the sciences of evolution so as to effect the most suitable organization of consciousness.     

Client Perceptions of the Impact of Genetic Counseling: An Exploratory Study

Twenty-eight former genetic counseling clients seen at a major Midwestern university were recruited to be interviewed about their genetic counseling experiences, including most and least helpful aspects, what they learned, how this information impacted their decision-making, and their perceptions of their genetic counselors' behaviors. Responses were inductively analyzed, and several themes were identified, including: Clients sought genetic counseling to obtain genetic-medical information; a majority accurately recalled this information; genetic counseling influenced decisions for about 50% of the sample; decision-making was affected by several extra-session factors; a majority experienced distress during the session; most perceived genetic counselor responses as nondirective and liked this approach; counselor behaviors regarded as directive involved discussion of pregnancy termination; participants disagreed about the need for and provision of genetic counselor support; most regarded the session as helpful and stated that they would seek genetic counseling again. Suggestions for addressing these issues in practice and research are given.     

An Opportunity for Genetic Counseling Intervention: Depression in Parents of Individuals with Proteus Syndrome

Depression is common, affecting 2–5% of the general population. Parental depression can confound adjustment to, and caring for, a child with a genetic condition. As part of a study on psychosocial issues of parents caring for children with Proteus syndrome, 31 parents (20 mothers and 11 fathers) completed a depression screening tool, the Beck Depression Inventory. Approximately 23% (4/20 mothers and 3/11 fathers) scored positive on the tool. Pessimism, sense of failure, general lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido were reported more frequently by the group of parents with positive screen results than those with normal results. These data suggest that symptoms of depression may be prevailing among parents of individuals with Proteus syndrome. Because effective interventions for depression are readily available, genetic counselors working with families affected with rare, overgrowth disorders should specifically assess parents for physical and affective symptoms of depression and refer them for appropriate clinical treatment.     

Social contents in dreams: An empirical test of the Social Simulation Theory

Social Simulation Theory (SST) considers the function of dreaming to be the simulation of social events. The Sociality Bias and the Strengthening hypotheses of SST were tested. Social Content Scale (SCS) was developed to quantify social events. Additionally, we attempted to replicate a previous finding (McNamara et al., 2005, Psychological Science) of REM dreams as predisposed to aggressive, and NREM dreams to prosocial interactions.Further, we investigated the frequency and quality of interactions in late vs early REM and NREM dreams. Data consisted of wake, REM and NREM home dream reports (N = 232, 116, 116, respectively) from 15 students. Dreams overrepresented social events compared to wake reports, supporting the Sociality Bias hypothesis. However, the Strengthening Hypothesis was not supported. We weren’t able to replicate the McNamara et al. finding, and no time of night effect was found. While SST gained partial support, further research on social contents in dreams is required.     

Parents' Experiences with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study

Little is known about factors determining which families utilize genetic counseling services. We conducted semistructured interviews with parents of four children born with cystic fibrosis (CF) and ten with Down's syndrome (DS) to ascertain reasons for using, or not using, genetic counseling services in the state of Victoria, Australia. We also explored the usefulness of genetic counseling for the families who had experienced it, and the perceived role of genetic counseling. All mothers of children with CF see a genetic counselor as part of a structured education program following diagnosis through newborn screening. Information overload was identified by them as an important problem. There is no specific program for families of children with DS. Six of them had received genetic counseling and four had not, either because it was not specifically offered to them or because they did not pursue it in the context of misconceptions about its purpose. The timing of the offer of genetic counseling is important and needs to take into account parents' coping strategies after diagnosis. Several parents commented on the favorable aspects of counseling, including getting information they needed to deal with the diagnosis and relief of guilt. Better awareness of genetic counseling by referring physicians, and providing counseling at more than one visit, may contribute to a more effective service.     

Perceived Genetic Risks for Bipolar Disorder in a Patient Population: An Exploratory Study

Thirty-one subjects with bipolar illness completed a questionnaire about genetic risk for bipolar disorder. Subjects estimated both quantitative and qualitative genetic risk for bipolar disorder for the following categories: general population, siblings, parents, spouses, and children. Results showed that quantitative risks were inflated when compared to qualitative risks and that subjects routinely overestimated the risk for developing bipolar illness. These findings suggest that genetic counseling may be useful for this population.     

Development of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State

We present a method for the development of consensus documents describing the components of genetic evaluation and genetic counseling for various diagnoses. These documents were developed to encourage consistency among genetic professionals in Washington State. Other possible uses of these documents are to provide information regarding genetic evaluations for health care practitioners and payers, and to assist in quality assurance and genetic training programs. A working group of six genetic professionals developed two templates for the critical elements of genetic evaluation and genetic counseling, for clinical (nonprenatal) and prenatal patients. The working group then completed prototype templates for several specific genetic disorders. The templates and prototypes were sent to interested genetic professionals and perinatologists who submitted a total of 76 draft critical elements (CE's) to the working group. At two statewide meetings, participating practitioners modified and unanimously approved the CE templates, then unanimously approved the 21 draft CEs that had been finalized in small group discussions. Approved CE's were distributed to genetic professionals and perinatologists within the state.     

Storytellers and Scenario Spinners: Some Reflections on Religion and Science in Light of a Pragmatic, Evolutionary Theory of Knowledge

Asserting that both scientists and religious thinkers are involved in telling stories about the past and spinning scenarios about the future, I first compare and contrast the purposes of scientific and religious storytelling. Then, in light of some recent work on brain and language evolution, I offer a possible story about how humans might have become storytellers. Finally, I discuss how religious stories might be evaluated pragmatically and even scientifically by developing Lakatosian-type research programs.     

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors

The National Society of Genetic Counselors' (NSGC) recommendations for fragile X syndrome (FXS) genetic counseling are intended to assist health care professionals who provide genetic counseling for individuals and families in whom the diagnosis of FXS is strongly suspected or has been made. The recommendations are the opinions of genetic counselors with expertise in FXS counseling and are based on clinical experience, a review of pertinent English language medical articles, and reports of expert committees. 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 particular client.     

Consideration of Genetic Counseling as a Career: Implications for Diversifying the Genetic Counseling Field

Under-representation of racial/ethnic minority counselors has been an ongoing issue in the genetic counseling field. A better understanding of genetic counseling awareness and career consideration may help to increase the number of applicants to genetic counseling training programs from racial/ethnic minorities. This study sampled high school and college students (n = 233) to examine their awareness and perceptions of genetic counseling. Ethnicity, gender, parental level of education, and interest in biology were significant predictors of a subjects genetic counseling awareness; previous awareness of genetic counseling, interest in psychology, and level of education were significant predictors of whether a subject would consider genetic counseling as a career. The findings suggest that knowledge of genetic counseling is lower among racial/ethnic minorities, but that racial/ethnic minorities are just as likely to consider genetic counseling as a career. Awareness of genetic counseling prior to university education may increase racial/ethnic minority representation among potential applicants to genetic counseling training programs.     

非医用胚胎植入前基因诊断性别的伦理思考

对胚胎植入前基因诊断(PGD)性别的非医学用途,尚有很多争议。从伦理学角度考虑,非医用PGD性别选择存在文化差异,在亚洲一些国家可能会引起人口性别比失衡以及性别歧视等,在西方一些国家可能不存在类似问题。     

Experiential Family Therapy: An Innovative Approach to the Resolution of Family Conflict in Genetic Counseling

Experiential family therapy is an intuitive approach that utilizes active, multisensory techniques. These techniques, such as role plays and drawings, increase the family's expression of affect and uncover new information. Increased affect and uncovered information stimulate change and growth in the family system. Experiential techniques are especially useful when more traditional, verbal-based communication is not effective. In this article, I will present a pediatric case in which the patient, a 7-year-old boy diagnosed with autism, was referred to the genetics clinic to rule out the presence of an associated genetic disorder. I will then describe a hypothetical second counseling session with the same family and suggest how three experiential family therapy techniques: family drawing, empty chair technique, and continuums might be used in the session to help resolve a marital conflict between the patient's parents.     

Developmental Instability and Individual Variation in Brain Development: Implications for the Origin of Neurodevelopmental Disorders

ABSTRACT— Research on the origin of neurodevelopmental disorders has traditionally been pursued within a constrained, disorder-specific perspective. The developmental instability (DI) model described here offers a broader approach based on the evolutionary genetics of normal variation, reflecting our understanding that the processes generating genetic diversity are not unique to any specific disorder. The DI model helps account for shared features, including atypical functional and anatomic asymmetries, reduced general intellectual functioning, and complex patterns of heritability, across different types of neural variation. The model suggests research strategies that may help illuminate the specific and unique causal factors characterizing different types of neural variation.     

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Psychosocial Genetic Counseling in the Post-Nondirective Era: A Point of View

For three decades nondirectiveness has served as the central ethos for genetic counseling. It has evolved from narrow definitions defining what should not be done to broad definitions that promote active counseling skills in support of client autonomy and informed decision making. As broad definitions have been formulated, the term nondirective has become largely irrelevant to their content; it persists primarily as a historic relic. It has thus become an impediment to creative theory and clinical practice. I propose that nondirectiveness be replaced as the central ethos, while relevant components (providing balanced information, not imposing the counselor's values) are retained as elements of practice and ethics. This raises the question of what principle(s) should be adopted as a new guiding ethos. To promote a discussion of that issue I propose that the central ethos of genetic counseling should be to bring the psychosocial component into every aspect of the work.