Extending exploratory diagnostic classification models: Inferring the effect of covariates

Diagnostic models provide a statistical framework for designing formative assessments by classifying student knowledge profiles according to a collection of fine-grained attributes. The context and ecosystem in which students learn may play an important role in skill mastery, and it is therefore important to develop methods for incorporating student covariates into diagnostic models. Including covariates may provide researchers and practitioners with the ability to evaluate novel interventions or understand the role of background knowledge in attribute mastery. Existing research is designed to include covariates in confirmatory diagnostic models, which are also known as restricted latent class models. We propose new methods for including covariates in exploratory RLCMs that jointly infer the latent structure and evaluate the role of covariates on performance and skill mastery. We present a novel Bayesian formulation and report a Markov chain Monte Carlo algorithm using a Metropolis-within-Gibbs algorithm for approximating the model parameter posterior distribution. We report Monte Carlo simulation evidence regarding the accuracy of our new methods and present results from an application that examines the role of student background knowledge on the mastery of a probability data set.     

BIOLOGY AND THE SOCIAL SCIENCES

Abstract. The sciences may be conceptualized as a hierarchy ranked by level of organization (e.g., many-body physics ranks above particle physics). Each science serves as an antidiscipline for the science above it; that is, between each pair, tense but creative interplay is inevitable. Biology has advanced through such tension between its subdisciplines and now can serve as an antidiscipline for the social sciences—for anthropology, for example, by examining the connection between cultural and biological evolution; for psychology, by addressing the nature of learning and the structure of the unconscious; for economics, by examining economically irrational behavior and by comparing economic activity in humans and other species. Sociology, concerned mainly with advanced literate societies, is relatively remote from the genetic basis of human social behavior. However, moving between biological and social levels of organization generates richness and points to new and unexpected principles.     

Toward a new conceptualization and operationalization of risk perception within the genetic counseling domain

The purpose of this paper is twofold. First, it provides an historical overview of studies of risk, risk perception, and decision making under risk within the genetic counseling domain. Second, it proposes an alternative conceptualization and operationalization for the study of risk perception. The conceptualization involves probability, adversity, incompleteness, and ambiguity. Prior studies of risk perception focus on the recurrence risk and operationalize risk perception by asking for interpretations of the magnitude of the probability of the outcome. Their focus is on the probability of a particular outcome. We formulate the problem in terms of a gamble and suggest that risk perception be operationalized in terms of the riskiness of the gamble. Our focus is on the riskiness of a decision option which entails two or more outcomes.     

A survey of reimbursement for cystic fibrosis carrier testing

To assess the current status of reimbursement for cystic fibrosis (CF) carrier testing, we surveyed individuals tested in the Mid-Atlantic region. Results show that CF testing was covered by insurance in part or in full for greater than 50% of respondents. The test was nearly always covered when performed during pregnancy because of a positive family history, but it was also covered for more than 50% of pregnant respondents with a negative family history. There were no significant differences in coverage by type of insurance. Many respondents needed to supply additional information about the testing to their insurance company before a coverage decision could be made. Before population-based CF screening programs are initiated, more data are needed on insurance reimbursement for testing, especially when performed pre-conceptually.     

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.     

Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling

Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an apparently healthy infant under 1 year of age. Routine autopsies often provide few clues as to the cause of death and rarely include a biochemical evaluation. Genetic counseling for SIDS can be difficult as recurrence risks vary depending on the age at death and the number of deaths which have occurred in the family. Biochemical disorders may account for up to 5% of SIDS. Of the metabolic disorders known to be involved in SIDS, the most commonly found is medium-chain acyl CoA dehydrogenase deficiency (MCAD). MCAD is an autosomal recessive disorder of fatty acid oxidation which accounts for up to 1% of SIDS. For some families, the addition of a postmortem biochemical investigation can identify an unsuspected metabolic disorder as the cause of death. Once the diagnosis is established, accurate genetic counseling can then be provided. Metabolic testing of the surviving siblings of victims of sudden death, and the subsequent identification of those due to MCAD can prevent the tragedy of recurrent SIDS in some families. In addition, screening the survivors of an acute life threatening event (ALTE) may also prevent a recurrence.     

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.     

Adaptation, teleology, and selection by consequences

This paper presents and defends the view that reinforcement and natural selection are selection processes, that selection processes are neither mechanistic nor teleological, and that mentalistic and vitalistic processes are teleological but not mechanistic. The differences between these types of processes are described and used in discussing the conceptual and methodological significance of “selection type theories” and B. F. Skinner's radical behaviorist view that “operant behavior is the field of intention, purpose, and expectation. It deals with that field precisely as the theory of evolution has dealt with another kind of purpose” (1986, p. 716). The antimentalism of radical behaviorism emerges as a post-Darwinian extension of Francis Bacon's (and Galileo's) influential view that “[the introduction of final causes] rather corrupts than advances the sciences” (Bacon, 1905, p. 302).     

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.