The twisted helix: An essay on genetic counselors,eugenics, and social responsibility

The American eugenics movement had a significant impact on American social history, and analysis of the movement illustrates the relationship among science, scientists, and society. The history of the American eugenics movement as well as more recent examples of eugenic thought and biological determinism are reviewed. The need for genetic counselors to confront eugenic issues in their own profession and in society is discussed.     

Reducing intergroup anxiety: Applying an imagined contact intervention with counselors-in-training

This study assessed the impacts of an (elaborated) imagined contact intervention (eICI) with graduate-level counseling students (N = 38) in a multicultural counseling course. Participant levels of intergroup anxiety were assessed, comparing those who completed an eICI versus those who did not. Intergroup anxiety decreased for both groups over time, albeit with a greater immediate reduction for those who received the ICI. Qualitative commentary suggests specific student learning from the activity.     

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.     

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.     

Resistance and adherence to the norms of genetic counseling

Genetic counseling for women of advanced maternal age who are considering prenatal testing continues to be based on a principle of nondirectiveness. We interviewed 11 genetic counseling students and four counselors about how they experience and manage, in practice, the tensions between the ideology of nondirectiveness and the acknowledged reality that one can never be truly nondirective. We found that our respondents creatively resolve this tension—simultaneously resisting and adhering to the values of nondirectiveness and information-giving—in individual and situation-specific ways. This resolution is facilitated by the extent to which information given to counselees is fluid, mobile and context-dependent, but these very features of information also have critical implications for both the norms and the practice of genetic counseling.     

Cultural competency in genetic counseling

Incorporating a cross-cultural curriculum into genetic counseling training programs demonstrates a professional conviction of genetic counselors that cultural issues are important in genetic counseling. Funded by the Special Projects Fund in 1993 from the National Society of Genetic Counselors and the Kitson Fund from the Department of Social, Organizational, and Counseling Psychology, Teachers College, Columbia University, theHandbook of Cross-Cultural Genetic Counseling was developed to provide genetic counseling programs a curriculum to teach cross-cultural genetic counseling. The theoretical rationale for the development of a cultural curriculum is presented. By expanding cultural knowledge, developing an awareness of oneself and others, and increasing the repertoire of culturally relevant counseling skills within a socio-political context, genetic counselors will be able to better serve all clients seeking genetic counseling.