Assessment of Psychosocial Outcomes in Genetic Counseling Research: An Overview of Available Measurement Scales

The aim of the present paper was to describe and evaluate many of the measurement scales currently used in genetic counseling outcomes research. A team of three researchers reviewed the available literature and selected a variety of validated instruments suitable for measurement of genetic counseling outcomes. There are numerous scales to assess each of the following outcomes among counselees: satisfaction with genetic counseling; knowledge; decision-making; psychological adjustment; coping; perceived personal control; perceptions of disease risk; and family communication about genetic risk. However, the strengths and limitations inherent to each instrument warrant careful consideration prior to implementation. In the genetic counseling context, scale selection should be undertaken with thought directed towards the characteristics of the research sample (e.g. levels of literacy, culture, medical condition), the practicalities of the research setting (e.g. available funding and resources, time restrictions, researcher expertise), the purpose of the research (i.e. the specific aspect of the genetic counseling experience to be studied), and the science underlying the scale (e.g. theoretical framework, psychometric properties).     

项目反应理论中潜在心理特质“填补”的参数估计方法及其演变

在心理与教育测量中, 项目反应理论(Item Response Theory, IRT)模型的参数估计方法是理论研究与实践应用的基本工具。最近, 由于IRT模型的不断扩展与EM (expectation-maximization)算法自身的固有问题, 参数估计方法的改进与发展显得尤为重要。这里介绍了IRT模型中边际极大似然估计的发展, 提出了它的阶段性特征, 即联合极大似然估计阶段、确定性潜在心理特质“填补”阶段、随机潜在心理特质“填补”阶段, 重点阐述了它的潜在心理特质“填补” (data augmentation)思想。EM算法与Metropolis-Hastings Robbins-Monro (MH-RM)算法作为不同的潜在心理特质“填补”方法, 都是边际极大似然估计的思想跨越。目前, 潜在心理特质“填补”的参数估计方法仍在不断发展与完善。     

Locally dependent latent trait model for polytomous responses with application to inventory of hostility

Psychological tests often involve item clusters that are designed to solicit responses to behavioral stimuli. The dependency between individual responses within clusters beyond that which can be explained by the underlying trait sometimes reveals structures that are of substantive interest. The paper describes two general classes of models for this type of locally dependent responses. Specifically, the models include a generalized log-linear representation and a hybrid parameterization model for polytomous data. A compact matrix notation designed to succinctly represent the system of complex multivariate polytomous responses is presented. The matrix representation creates the necessary formulation for the locally dependent kernel for polytomous item responses. Using polytomous data from an inventory of hostility, we provide illustrations as to how the locally dependent models can be used in psychological measurement.     

Analysis of distractor difficulty in multiple-choice items

Two psychometric models are presented for evaluating the difficulty of the distractors in multiple-choice items. They are based on the criterion of rising distractor selection ratios, which facilitates interpretation of the subject and item parameters. Statistical inferential tools are developed in a Bayesian framework: modal a posteriori estimation by application of an EM algorithm and model evaluation by monitoring posterior predictive replications of the data matrix. An educational example with real data is included to exemplify the application of the models and compare them with the nominal categories model.This research was supported by the DGI grant BSO2002-01485.I would like to thank Eric Maris and Vicente Ponsoda for their advice, Juan Botella for providing the data for the empirical application, and three anonymous reviewers for their comments that were essential for improving the quality of the paper.     

The phenotypic and genotypic relation between working memory speed and capacity

This study examined the phenotypic and genotypic relationship between working memory speed (WMS) and working memory capacity (WMC) in 12-year-old twins and their siblings (N = 409). To asses WMS all children performed a reaction time task with three memory loads from which a basic mental speed measure and the derived slope were used. WMC was measured with two subtests of the WISC-R, namely Arithmetic and Digit Span. The phenotypic correlations among the WMS and WMC indices were around − 0.30. Heritabilities for all variables ranged from 43% to 56%. Structural equating modelling revealed that a model with two genetic factors, representing WMS and WMC, which were correlated (− 0.54) fitted the data best, indicating that WMS and WMC are partly mediated by the same set of genes and partly by separate sets of genes. When general IQ was simultaneously analysed with the data the correlation between the genetic factors for WMS and WMC decreased (− 0.25), but was still significant. This means that  50% of the genetic correlation between WMS and WMC is explained by IQ.     

A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: •Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. •Education about inheritance, testing, management, prevention, resources and research. •Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.     

Bootstrapping the lexicon: a computational model of infant speech segmentation

Prelinguistic infants must find a way to isolate meaningful chunks from the continuous streams of speech that they hear. BootLex, a new model which uses distributional cues to build a lexicon, demonstrates how much can be accomplished using this single source of information. This conceptually simple probabilistic algorithm achieves significant segmentation results on various kinds of language corpora - English, Japanese, and Spanish; child- and adult-directed speech, and written texts; and several variations in coding structure - and reveals which statistical characteristics of the input have an influence on segmentation performance. BootLex is then compared, quantitatively and qualitatively, with three other groups of computational models of the same infant segmentation process, paying particular attention to functional characteristics of the models and their similarity to human cognition. Commonalities and contrasts among the models are discussed, as well as their implications both for theories of the cognitive problem of segmentation itself, and for the general enterprise of computational cognitive modeling.     

DNA-sequence patenting: National Society of Genetic Counselors (NSGC) position paper

In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting of DNA-sequences. The mandate of the group was to produce general position statements that support the perspective and needs of consumers of DNA-based genetic tests and therapies (our patients and their families) and participants in DNA-based genetic research. After review and discussion of the literature on DNA-sequence patenting issues, the working group drafted position statement points that support current United States Patent and Trademark Office (USPTO) guidelines; broad licensing of DNA-sequence patents; nonenforcement of DNA-sequence patents in noncommercial research; reasonable royalty rates; an informed consent process for research participants that discloses whether they can share in any financial rewards relating to the project; the development of guidelines for licensing of DNA-sequence patents; and the establishment of oversight organizations to monitor licensing of DNA-sequence patents. These position statements were approved by the NSGC Board of Directors in the fall of 2001.     

Preference for human or algorithmic forecasting advice does not predict if and how it is used

Past research has found that people treat advice differently depending on its source. In many cases, people seem to prefer human advice to algorithms, but in others, there is a reversal, and people seem to prefer algorithmic advice. Across two studies, we examine the persuasiveness of, and judges' preferences for, advice from different sources when forecasting geopolitical events. We find that judges report domain-specific preferences, preferring human advice in the domain of politics and algorithmic advice in the domain of economics. In Study 2, participants report a preference for hybrid advice, that combines human and algorithmic sources, to either one on it's own regardless of domain. More importantly, we find that these preferences did not affect persuasiveness of advice from these different sources, regardless of domain. Judges were primarily sensitive to quantitative features pertaining to the similarity between their initial beliefs and the advice they were offered, such as the distance between them and the relative advisor confidence, when deciding whether to revise their initial beliefs in light of advice, rather than the source that generated the advice.     

Triple Bottomline Many‐Objective‐Based Decision Making for a Land Use Management Problem

A land use many‐objective optimization problem for a 1500‐ha farm with 315 paddocks was formulated with 14 objectives (maximizing sawlog production, pulpwood production, milksolids, beef, sheep meat, wool, carbon sequestration, water production, income and Earnings Before Interest and Tax; and minimizing costs, nitrate leaching, phosphorus loss and sedimentation). This was solved using a modified Reference‐point‐based Non‐dominated Sorting Genetic Algorithm II augmented by simulated epigenetic operations. The search space had complex variable interactions and was based on economic data and several interoperating simulation models. The solution was an approximation of a Hyperspace Pareto Frontier (HPF), where each non‐dominated trade‐off point represented a set of land‐use management actions taken within a 10‐year period and their related management options, spanning a planning period of 50 years. A trade‐off analysis was achieved using Hyper‐Radial Visualization (HRV) by collapsing the HPF into a 2‐D visualization capability through an interactive virtual reality (VR)‐based method, thereby facilitating intuitive selection of a sound compromise solution dictated by the decision makers' preferences under uncertainty conditions. Four scenarios of the HRV were considered emphasizing economic, sedimentation and nitrate leaching aspects—giving rise to a triple bottomline (i.e. the economic, environmental and social complex, where the social aspect is represented by the preferences of the various stakeholders). Highlights of the proposed approach are the development of an innovative epigenetics‐based multi‐objective optimizer, uncertainty incorporation in the search space data and decision making on a multi‐dimensional space through a VR‐simulation‐based visual steering process controlled at its core by a multi‐criterion decision making‐based process. This approach has widespread applicability to many other ‘wicked’ societal problem‐solving tasks. Copyright © 2014 John Wiley & Sons, Ltd.