Diathesis-stress models of psychopathology: A quantitative genetic perspective

When genetics is considered in diathesis-stress models of psychopathology, it is often assumed that heredity provides the diathesis and environmental factors are responsible for the stressor. We discuss two quantitative genetic models relevant to the diathesis-stress construct. One model focuses on genotype-environment interaction, which is the usual way in which genetic influence is represented in diathesis-stress models. A second model—genotype-environment correlation—provides an alternative that represents both genetic and environmental influences relevant to the development of psychopathology. Implications of these models for clinical research are discussed.     

Genetics and adoption: Forming a partnership

Genetic issues are demanding more attention in the area of public health. Adoption agencies and policymakers are beginning to address these issues where they relate to the adoption process and to the many families involved in adoption in this country. Genetic counselors need to play an active role as both educators of and consultants for adoption professionals and the families with whom they work. To facilitate a partnership between genetics and adoption we have developed a workshop intended to educate adoption professionals about the lifelong implications of genetic conditions on the adoption triad.     

Relative allocation on concurrent schedules can depend on schedule parameters when behavioral parameters are constant

We develop a simple model of switching between the initial links of a concurrent-chain procedure. Behavior is determined by four parameters μ₁, μ₂, q₁, and q₂. The first two are the basic rates of switching from Schedule 1 and Schedule 2, respectively. The second two are the probabilities of leaving Schedule 1 and Schedule 2 after the corresponding terminal link has been completed. We show that for fixed values of these four parameters, the relative allocation on the initial links may change as a result of changes in initial-link schedules. The effect can be quite large if the switching rates are low. An implication is that relative allocation is not necessarily a good measure of behavior.     

A teaching framework for cross-cultural genetic counseling

The increasing diversity of American society has brought growing recognition of the need to bridge cultures in the delivery of genetic counseling services. New immigrants and members of diverse ethnic groups face multiple barriers to genetic counseling services. The need to train genetic counselors to deal with cultural diversity is especially crucial in the new genetic era, given the rapid expansion of available technology, with the resulting social and ethical ramifications. A framework for teaching cross-cultural issues in genetic counseling training programs is presented that can be implemented in step-wise fashion, consistent with available resources. Cross-cultural issues can be incorporated into existing teaching and training modalities by expanding the orientation from monocultural to multicultural. Relevant clinical experience, exploration of students' preconceptions and biases, reading materials, and lectures by invited speakers can all enhance students' knowledge and sensitivity. It is critically important that training programs furnish students with the basic tools necessary for the ongoing process of learning about cultural diversity.     

The crane's foot: The rise of the pedigree in human genetics

The standard pedigree used by geneticists is intimately connected to the history of genetics. Pedigrees drawn today are based on standards established in the early decades of the twentieth century. Those standards were established by geneticists who pursued an active interest in eugenics. The slightly different standards followed in America vs. England to some extent followed the stronger support of Mendelism by the Americans, as well as the individual preferences of the leading human geneticists in those countries.     

Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications

Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation.     

Whose Gene Is It? A Case Discussion About Familial Conflict over Genetic Testing for Breast Cancer

A multidisciplinary group of genetic and other professionals discuss a complex case of familial conflict over access to genetic information. One twin wishes to know the results of her deceased mother's tests for BRCA1 mutations; a second twin objects to researchers making this information available. As the case discussion unfolds, the apparent facts of this case are called into question and the lines of ethical certainty become less clear.     

Genes and human behavior: the emerging paradigm

The physical properties of human beings and other organisms as well as their social behavioral traits are manifestations of both genetic inheritance and environment. Recent behavioral research has indicated that certain characteristics or behaviors—such as schizophrenia, divorce, and homosexuality—are highly heritable and are not governed exclusively by social environment. A balanced view of human behavior includes the effects of social learning as well as of genetically determined behavior. A new paradigm promotes enhanced understanding and acceptance of human diversity, be it cultural, racial, or sexual, and has the potential to unite scientists and theologians by creating common grounds of understanding.     

Selective punishment of interresponse times

Lever pressing by two squirrel monkeys was maintained under a variable-interval 60-second schedule of food presentation. When response-dependent electric shock was made contingent on comparatively long interresponse times, response rate increased, and further increases were obtained when the minimum interresponse-time requirement was decreased. When an equal proportion of responses produced shock without regard to interresponse time, rates decreased. Thus, shock contingent on long interresponse times selectively decreased the relative frequency of those interresponse times, and increased the relative frequency of shorter interresponse times, whereas shock delivered independent of interresponse times decreased the relative frequency of shorter interresponse times while increasing the frequency of longer ones. The results provide preliminary evidence that interresponse times may be differentiated by punishment, further supporting the notion that interresponse times may be considered functional units of behavior.     

Synapses,Schizophrenia, and Civilization: What Made Homo Sapient?

Progress in technology has allowed dynamic research on the development of the human brain that has revolutionized concepts. Particularly, the notions of plasticity, neuronal selection, and the effects of afferent stimuli have entered into thinking about brain development. Here I focus on development from the age of four years to early adulthood, during which a 30 percent reduction in some brain synapses occurs that is out of proportion to changes in neuronal numbers. This corresponds temporally with changes in normal child behavior from the loose‐associative, almost schizoid, thinking and art of the four‐year‐old to the more trained, or disciplined, or acculturated—and restrained—personality of the young adult. I propose that the synaptic changes can best be thought of as a winnowing process likely subject to environmental influences. Acquisition of language and the ability to link linguistic cognition to the plastic development of the brain provide a potentially powerful means of explaining the evolutionally explosive development of human cognition and culture. Schizophrenia, a disease that can be envisioned as representing a derangement of synaptic maturation, may provide an entry into the search for genes controlling the processes mediating the unprecedented development of Homo sapiens over the past 40,000 to 70,000 years. The recently completed mapping of the genome of the chimpanzee provides a new frame of reference that may speed the search.