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 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.     

Lesbian,gay, and bisexual youth in community settings: Personal challenges and mental health problems

Studied 194 lesbian, gay, and bisexual youth aged 21 and younger who attended programs in 14 community centers to determine the personal challenges they face due to their sexual orientation and their responses to these stresses. First awareness of sexual orientation typically occurred at age 10, but disclosure to another person did not occur until about age 16. There was much variability in sexual behavior, and many youths reported both same-sex and opposite-sex sexual experiences. Although most had told at least one family member about their sexual orientation, there remained much concern about family reactions. Suicide attempts were acknowledged by 42% of the sample. Attempters significantly differed from nonattempters on several milestones of sexual orientation development, social aspects of sexual orientation, parents' knowledge of sexual orientation, and mental health problems. The following organizations participated in this project and are thanked for their assistance: Affirmations (Detroit), the Atlanta Gay Center, Baltimore Gay and Lesbian Community Center, Boston Alliance of Gay and Lesbian Youth, Gay Alternative Youth (Pittsburgh), the Gay and Lesbian Youth Association of Dallas, Gay Youth Alliance — San Diego, the Gay and Lesbian Community Services Center of Los Angeles, Horizons Community Services (Chicago), the Indianapolis Youth Group, the Lesbian and Gay Community Services Center of Cleveland, Lavender Youth Recreation and Information Center (San Francisco), Outright (Denver), and Sexual Minority Youth Assistance League (Washington, DC). The following individuals associated with these groups are gratefully thanked for their help: Danny Barutta, Adriene Corbin, Tom Eversole, Chris Gonzalez, Bill Gripp, Rory Lopez, Phil Rector, Jamie Schield, Cheryl Schwartz, Jan Stephenson, Sterling Stowell, Amy Vitro, and Aubrey Wertheim. Gene Thomas is thanked for helping with data collection, as are Michael LaFlam, Patrick McNamara, and Mark Shiner, who processed the surveys. We also thank Rainer Silbereisen for his comments. This project was supported by funds from the Center for the Study of Child and Adolescent Development of the College of Health and Human Development at Pennsylvania State University.     

Medical education: The training of ethical physicians

This paper suggests that medical education be revised to assist in diffusing potential ethical dilemmas that arise during health care provision. A revised medical education would emphasize the role of the humanities in the training of physicians, especially in light of recent critiques of the canonical scientific model in general, and more specifically in the use of that model for medical training and practice.I wish to thank Dr. Mary Ann Cutter and Melissa M. Amaro for their critical suggestions.     

The myth of science education

It is argued that the manner in which we teach science in the high schools represents an outdated positivistic conception of science. The standard presentation of a year of each of chemistry, biology and physics should be replaced by an integrated science plus history, philosophy, and sociology of science which would take a total of three years to complete. A proper appreciation for the true nature of science is essential to the continued health of the scientific enterprise.     

Knowledge of Breast Cancer Genetics Among Breast Cancer Patients and First-Degree Relatives of Affected Individuals

The cloning of BRCA1, a susceptibility gene for inherited breast cancer, has made genetic screening possible for individuals and families whose medical histories are suggestive of an inherited predisposition to breast cancer. To date, few systematic attempts have been made to determine the level of knowledge about breast cancer genetics among women who are likely to seek BRCA1 screening when it becomes widely available. The present study attempted to assess the general knowledge about BRCA1 mutations in two groups: (1) first-degree relatives (FDRs) of breast cancer patients; and (2) women with a previous diagnosis of breast cancer. A self-administered, thirty-item questionnaire was developed through a pilot study. Ten of the items were objective, factual questions about breast cancer genetics. Responses to these questions were used to generate an overall knowledge score for each respondent. The study population was moderately knowledgeable about breast cancer genetics, with an average score of 5.35 out of 10. Counselors should not underestimate the importance of evaluating each counselee's existing knowledge about breast cancer, which can affect the provision and reception of genetic information. In particular, specific areas of knowledge that may be confusing or misunderstood were identified and these topics are discussed in detail.     

卡车驾驶员速度估计研究

用速度知觉测试仪,对251名男性卡车驾驶员在四种实验条件下的速度估计准确性进行了测量。结果发现：安全组卡车驾驶员的速度估计准确性优于事故组卡车驾驶员,两者在低速条件下差异不显著,高速条件下差异显著;事故组卡车驾驶员的高估次数高于安全组卡车驾驶员,低速条件下两者不显著.高速条件下差异显著;事故多发组与安全组卡车驾驶员的速度估计准确性在高速及低速长距离条件下差异显著;速度及距离对速度估计准确性有显著影响,且两者之间存在显著的交互作用;年龄对速度估计准确性无显著影响。