Subjective and Objective Risks of Carrying a BRCA1/2 Mutation in Individuals of Ashkenazi Jewish Descent

This repeated measures study examines (1) the change in subjective risk of mutations pre- to postcounseling, (2) the accuracy of BRCAPRO estimates of mutations, and (3) the discrepancy between subjective risk and BRCAPRO estimates of mutations before and after genetic counseling. Ninety-nine Ashkenazi Jewish individuals pursued testing for BRCA1/2 mutations. Most had a personal cancer history (N = 51; family only: N = 48); and received uninformative negative results (N = 66; positives: N = 23; informative negative: N = 10). The coping strategy of defensive pessimism predicts that individuals will believe the worst case scenario to better cope with a potential negative outcome. Consistent with this, most felt they would have a mutation, if not mutations in both genes. The BRCAPRO model appeared to overestimate risk of having a mutation in this sample (p < .001). BRCAPRO overestimates notwithstanding, genetic counseling increased accuracy of subjective risk (p < .01). Individuals with a family-only cancer history had the least accurate estimates of risk (p < .05) and may need further intervention to either manage anxiety or improve knowledge.     

Social relationships,stressful life events,and self-reported physical health: Genetic and environmental influences

Abstract

This study investigates how the associations between self-reported health, stressful life events, and social relationships are mediated by genetic and environmental influences and how much of the variance in health is in common with variation in these psychosocial factors. The analyses are based on questionnaire data from 576 pairs of twins reared apart and twins reared together. The data revealed that for men environmental influences were solely important for variation in the psychosocial measures and were the primary mediators of the relationship with health. For women, on the other hand, a substantial portion of the variance in the psychosocial factors was due to genetic influences and these influences also contributed to the bulk of the correlations with health. The gender differences for the relationships and their mediation indicate that what should be regarded as a psychosocial factor of importance for health might differ between genders.     

Emerging quality improvement measures in genetic counseling

The need to establish guidelines for total quality management in genetic counseling is now recognized as new genetic technologies are being introduced into genetics services and primary care. Genetic counselors have an important role in developing methods for assuring quality in the genetic counseling process. Emerging quality improvement measures as well as selected examples from the Quality Assurance Program in the Genetics Services Division at the Foundation for Blood Research are presented as examples of direct genetic counselor involvement. Suggestions for future directions of quality improvement activities for genetic counselors are discussed.     

Provider gender and moral reasoning: The politics of an “ethics of care”

Women constitute 35% of providers in genetics at the doctoral level. A survey of 682 geneticists in 19 nations showed that gender was the single most important determinant of ethical decision making. Women were less directive and more observant of patient autonomy than men. In the United States, women were twice as likely as men to accede to patient requests for prenatal diagnosis for sex selection. Women now constitute 30% of all medical students, about half of all obstetrical residents, and 94% of master's-level genetic counselors. Evidence that women providers respond differently to some ethical problems suggests that in the future, as more women enter the field, provider-patient relationships may become more egalitarian.     

Nursing and genetic health care

Advances in DNA technology are leading to major developments in nursing practice in clinical genetics, including the creation of new roles for nurses who care for people with genetic conditions. Application of genetic information and testing is moving genetics into the mainstream of health care. Therefore, it is anticipated that nurses in all areas of practice will become involved in the provision of information about genetic testing and assisting individuals and families in decision making and adjustment to new genetic information. This article provides an overview of the profession of nursing which may be useful to genetic counselors in the development of collaborative relationships between the two professions.     

Suicide prevention in the genetic counseling context

Utilizing a case report, this paper explores psychosocial aspects of suicidal intent in a woman seeking prenatal diagnosis. Using knowledge and practice of appropriate assessment, referral, and intervention procedures, the therapy team of genetic counselor and psychotherapist facilitated successful identification and management of this potentially suicidal client. The main counseling goals for the genetic counselor are to assess the situation adequately, decrease the immediate danger, and, with supervision and/or consultation, stabilize the seriously suicidal person until that individual can be triaged to mental health or medical professionals for treatment. The prevalence of suicide issues in genetic counseling contexts is unknown and reports mentioning suicidal ideation unusual in the genetic counseling literature. Is this reported case a rarity among genetic counseling referrals? Systematically collected information on the prevalence and resolution of suicidal issues in genetic counseling contexts would be helpful for those setting curricula for genetic counseling training programs, standards for professional certification exams, and policy and procedures manuals for clinical units.     

Training Genetic Counselors to provide teratogen counseling

Provision of teratogen counseling requires acquisition of knowledge and skills from several disciplines. Traditionally, training in teratogen counseling has occurred on the job. We describe a formal, didactic and experiential curriculum for teratogen counseling as an integral part of the Graduate Program in Genetic Counseling leading to the master of science degree at Northwestern University. All students complete a 5-week rotation with the Coordinator of the Illinois Teratogen Information Service (TIS). This provides them with an opportunity to evaluate a spectrum of teratogen exposures, to interpret teratogen studies in a manner useful for patients, and to develop skills in assessing and addressing psychosocial issues associated with fetal exposure to potential teratogens. Students also learn first hand about how a TIS functions and when and how to refer to TIS specialists. The goal of the program is to provide genetic counseling students with the opportunity to gain experience in accessing and interpreting teratology research and in communicating teratogen information to patients and health professionals in a sensitive, effective manner.     

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors

Molecular analysis of the fragile X (FMR-1) gene identifies female fragile X carriers, but appropriate genetic counseling can only be provided if the limitations of the testing methods are understood. Molecular analysis of this gene is achieved with both the polymerase chain reaction (PCR) and Southern blot techniques. PCR is faster and can determine the actual number of CGG repeats, which modifies genetic counseling substantially. However, for a sizeable percentage of women, PCR alone is not conclusive, and Southern analysis is necessary to complete the study. While this procedure takes longer, it is usually conclusive. Women who present for genetic counseling and carrier testing in the second trimester of pregnancy need this information quickly, and for them the turn-around time is paramount. It is critical that genetic counselors understand these methods so that they can educate their clients and facilitate appropriate follow-up.     

Nondirectiveness and genetic counseling

Nondirectiveness is the generally required and professed standard for genetic counseling. However, studies are lacking in the field of human genetics and in other disciplines which address either the theory or practice of this type of therapeutic procedure in the context of genetic counseling. Moreover, there is no indication the further development this concept has undergone in client-centered therapy has been acknowledged in human genetics. This could be due tot he historical development of genetic counseling, its inherent conflicts and often undefined goals, and the latent need of human geneticists to defend themselves against being accused of eugenic tendencies. Nondirectiveness and directiveness, however, can neither adequately describe what takes place in genetic counseling, nor can they — according to their original meaning — be used to define an ethical standard of genetic counseling. Starting with the writings by Carl Rogers (1942), an experiential approach is described, in which counseling is seen as a process of influence, which is wished by all the persons involved, during which activities are oriented toward the experience of the client, and which allows the counselor to communicate openly and directly with the client. The present study illustrates the use of the experiential approach in genetic counseling and shows that it can uphold the principle of ethics, which nondirectiveness demands and, at the same time, prevent the inevitable and unresolvable contradictions. This means that in their training genetic counselors must learn to recognize and constantly reflect on the influence they can and want to exert. In order to be able to use this influence in a responsible manner, genetic counselors must also learn to have a certain degree of flexibility so that they are able to check at any time how their client responds to this influence.     

An assessment of teratology training provided by masters level genetic counseling programs

The increasing demand in the clinical genetics setting for information about teratogen exposures has created a need for genetic counselors to have the capabilities to appropriately address patient concerns. In order to assess how training in teratogen counseling is currently being conducted, the GLaRGG Teratogen Subcommittee surveyed all 17 genetic counseling training programs in North America in September 1993. Information was obtained from training programs about coursework, resources, and clinical training. In addition, each training program was asked to provide information about how their teratogen training needs could better be met. While all programs responded that some information in their coursework applicable to teratogen counseling was provided, there was wide variation in the amount of time devoted to this topic. The programs also greatly differed in the provision of clinical training in teratogen counseling. For both coursework and clinical work, genetic counselors were the main trainers in teratogen counseling. In spite of this, fewer than 25% of training programs have a defined teratogen clinical rotation. Data from the survey are discussed and recommendations presented.