A Spanish-language prenatal family health evaluation questionnaire: Construction and pilot implementation

The Family Planning Council of America has constructed and implemented a genetic history questionnaire, the Family Health Evaluation, to elicit risk factors, to increase clients' knowledge about reproductive choices, and to improve access to genetic services. The objective of the present study was to develop and implement a Spanish-language version of the Family Health Evaluation for data collection and risk assessment. The content of the Family Health Evaluation was modified to more clearly reflect the risks, exposures, and medical needs of an Hispanic, largely Mexican-American, population. In the present study, the questionnaire was administered to women presenting for prenatal care. The data collected in this pilot study indicate that the questionnaire is effective in identifying individuals and families who would benefit from receiving additional information about a medical condition in their families, from genetic counseling or from a referral for high-resolution ultrasound or other diagnostic procedures.     

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.     

Practice variability in prenatal genetic counseling

This study demonstrated that the content of prenatal genetic counseling sessions varied from counselor to counselor and from center to center. The study was designed to examine which specific issues were included by genetic counselors in prenatal genetic counseling sessions, and to determine which factors led genetic counselors to include or exclude this information from such sessions. Data were collected by randomly surveying 200 full, master degree members of the National Society of Genetic Counselors (NSGC). Respondents provided information by deciding which of 45 specific issues they would include in a standard prenatal genetic counseling session, and which one factor from a bank of 11 factors most accurately described the reason for this decision. The results indicated that the issues included/excluded from sessions varied widely among genetic counselors. The results also indicated that Patient Education/Informed Decision Making (34.5%) played the largest role in decision making overall, with Standard at Center/Departmental Policy (17.6%), Personal Experience/Preference (12.4%), and Applicability (10.9%) serving as the next three most important reasons for including or excluding issues from prenatal genetic counseling sessions.     

Ethical dilemmas in testing for late onset conditions: reactions to testing and perceived impact on other family members

This paper examines some of the ethical dilemmas that arise when testing for the late onset, untreatable condition of Huntington disease (HD) specifically now that technology allows us to test younger generations of the family for the mutant gene. Drawing on interview data from families with Huntington disease, the reactions to testing and perceived impact on other family members are considered. These are discussed in the light of the possible lowering of the age of test applicants. This potentially raises problems for a younger generation as they are confronted with reproductive decisions that the older generation did not have to face. It also means that individuals have the prospect of living with knowledge of a future illness for much longer.     

Case Report: A Systems Approach to Genetic Counseling for Albinism

A systems approach to family therapy assumes that a person and his/her problems do not operate in a social vacuum but instead are imbedded in a social context. This context includes fairly small social systems such as a nuclear family and larger social systems such as school systems and cultural beliefs. A case of a girl with albinism born to a couple from India will be used to discuss how a systems approach might be useful in a genetic counseling setting.     

Qualitative Evaluation of Medical Information Processing Needs of 60 Women Choosing Ovarian Cancer Surveillance or Prophylactic Oophorectomy

Thirty women who had prophylactic oophorectomy (PO) and thirty women undergoing ovarian cancer surveillance (OCS) completed a one-time in-depth telephone interview exploring information gathering and decision-making processes. There were close similarities between groups, including age, race, marital status, education, menopausal status, number undergoing genetic testing for BRCA mutations, and number of prophylactic mastectomies. The majority of participants indicated overall satisfaction with their final decision. However, many described the information gathering process as frustrating and anxiety provoking. Participants in both groups expressed a need to process medical information within the context of individual psychosocial needs and personal perceptions and experiences. There were recurrent themes with regard to informational and psychosocial needs and personal perceptions and experiences that impacted decision-making process for these women. The present paper is a companion paper to Swisher et al. (J Repr Med 2001, 46:87–94) with the focus of this paper to illustrate the medical informational processing needs identified by this group of women.     

Family Communication and Genetic Counseling: The Case of Hereditary Breast and Ovarian Cancer

In familial breast/ovarian cancer, the information that the proband is able to supply about other family members is of critical importance for genetic counseling. This frequently requires family communication. Forty-six women attending a cancer genetics clinic were interviewed as part of a longitudinal study. Nearly all reported affected maternal, rather than paternal relatives, which may indicate lack of awareness by women with paternal histories. There was also much more communication among female relatives. Mothers, where they were still alive, were key figures in supplying family information. Although the majority of the sample contacted at least one relative regarding counseling, most named a relative with whom they did not feel able to communicate on this subject. Probands balanced the perceived obligation of passing on information with that of not causing alarm. Communication, both obtaining and giving information, was impeded by adoption, divorce and remarriage, family rifts, and large age gaps between siblings.     

Caring for the Care-Giver: The Benefit of a Peer Supervision Group

I presented the following case to my leader-led peer supervisiongroup twice as the case evolved over the course of one year. During my firstmeetings with Mr. and Mrs. M we discussed a prenatal diagnosis of a skeletaldysplasia at thirty-three weeks of pregnancy and the option of a third trimesterpregnancy termination. One year later I presented follow-up on the outcome ofthe affected pregnancy, a new pregnancy, and Mrs. M's suicide. Although bothsegments of the case were completed by the time I presented, my peersupervision group was invaluable. With the encouragement and support of groupmembers, I could openly express and process my sadness and grief for the M'ssituation and the loss of Mrs. M's life.     

职场排斥对员工家庭的溢出效应：归属需求和工作家庭区隔偏好的作用

以往研究证实了职场排斥会对员工组织内诸多方面产生危害, 然而关于职场排斥向组织外部特别是家庭领域的溢出效应还知之甚少。本研究基于资源保存理论构建了一个有调节的中介效应模型, 探讨职场排斥对员工家庭贬损和家庭满意度的溢出效应和具体机制, 研究结果表明：(1)职场排斥对员工家庭贬损有显著正向作用, 对家庭满意度有显著负向作用; (2)工作压力中介了职场排斥与家庭贬损和家庭满意度的关系; (3)员工归属需求调节了职场排斥对工作压力的影响, 同时调节了工作压力在职场排斥与家庭贬损、家庭满意度之间的中介效应; (4)员工工作家庭区隔偏好调节了工作压力对家庭贬损和家庭满意度的作用, 并且调节了职场排斥通过工作压力对家庭贬损和家庭满意度的中介效应。     

Case Report: Object Relations Family Therapy as a Model for Genetic Counseling

Object relations family therapy (ORFT) is a psychoanalytically based approach for the treatment of couples and families which stresses the importance of past relationships. The therapist assumes a parentlike role and provides a holding environment in which clients can explore unconscious motivations. This paper will discuss the applicability of this method to genetic counseling. The case of a couple seen for recurrent trisomies will be presented and used as an example to discuss how ORFT might serve as a framework in a genetic counseling session.     

The Colored, Eco-Genetic Relationship Map (CEGRM): A Conceptual Approach and Tool for Genetic Counseling Research

The Colored Ecological and Genetic Relational Map (CEGRM) [pronounced see-gram] is a conceptual approach and tool for presenting information about family and nonkin relationships and stories about inherited diseases in a simple, understandable form. It combines information that can be derived from pedigrees, genograms, ecomaps, and social network analysis in a single, or series of, pictorial maps based on colors and shapes. The CEGRM is based on a social systems perspective, particularly emphasizing social exchange and resource theories. The CEGRM should be particularly useful in genetic counseling research with members of suspected cancer-risk families or families with other late-onset inherited diseases. A genetic counseling client comes with a social history and context as well as a genetic one. Client decision-making in terms of reproductive plans, therapeutic intervention, lifestyle behavior and sharing or withholding of genetic information frequently becomes enmeshed with preexisting psycho-social relationships among biological kin, affinal kin (in-laws) and fictive kin (friends who act as family). The CEGRM makes it easier to compare different types of social interactions between the client and his/her significant others and among family members on the same dimensions.     

The health of employed women and men: work,family, and community correlates

Research into clarifying the relationship between social roles and health has increasingly focused on studying the particular circumstances in which occupying multiple roles may enhance or diminish well‐being. This study examined the association between a general measure of well‐being—self‐rated health—and the perceived quality of work, family and community in a sample of employed urban‐dwelling Canadians in a mid‐size city, and whether the nature of the association differed for men and women. Few gender differences were found in the perceived quality of work, family and community. However, men and women differed significantly in the specific type of quality measures associated with general health. For women, satisfaction with one's partner/spouse and in the money available to meet basic family needs had a stronger association with self‐rated health. For men, the significant correlates were satisfaction with family relationships (other than one's partner) and the community physical environment. For both women and men, a more socially cohesive community was associated with better self‐rated health. Copyright © 2006 John Wiley & Sons, Ltd.     

Genetic counseling for the next 25 years: Models for the future

Currently, two trends pose particular challenges for genetic counseling: (1) spin offs from the Human Genome Project leading to new diagnostic genetic tests far in advance of any cures; and (2) an increasing and diversified client population. These trends will lead to changes in both genetic service delivery systems and the development of alternative models of the genetic counseling process itself. Two models that could be adapted for genetic counseling are: the mutual participation model and the life history narrative model. Technological advances present ethical dilemmas and raise many questions. Already, improved detection of genes for predisposing conditions has entered clinical medicine requiring renewed ethical appraisals of genetic testing. Integration of genetic counseling (and required pre-screening education) into primary care settings involves time constraints and the involvement of health care personnel with less training in genetics. Alternative approaches are beginning to be discussed. Innovative genetic counselors with expanded visions of counseling goals and practices will play an increasingly important role in the future of genetic counseling.     

以家庭平衡为目的的辅助生殖技术性别选择问题探讨

对三孩政策下辅助生殖医疗机构患者就诊过程中呼声较高的以家庭平衡为目的的性别选择问题进行探讨,从概念的界定、产生需求的社会背景及可能引发的伦理问题进行论证,从而推动社会层面的深度思考。同时,结合当前辅助生殖技术中存在的社会需求,提出了以家庭平衡为目的的性别选择是曾经实行的“生男即止法”的延伸。但以家庭平衡为目的的性别选择还需要以辅助生殖技术规范应用为前提,应该从法律法规的完善、技术应用的监督及审查体系的加强等方面推动工作,防止相关技术的滥用。

     

The Importance of Written Information Packages in Support of Case-Finding Within Families at Risk for Inherited High Cholesterol

Inherited High Cholesterol is treatable, but highly underdiagnosed. To detect undiagnosed blood relatives at a presymptomatic stage, in the Netherlands written information packages are available to facilitate family communication. To investigate the role of those packages in the detection of carriers, we conducted a qualitative evaluation (plus-minus method combined with semistructured interviews with index patients and relatives). Our data suggest that interviewees approved the family approach for finding carriers, although reluctantly. The packages aided family disclosure by reducing hesitation. However, index patients only informed first-degree relatives and generally communicated the risk only once. This may be due to the cultural context and a limited understanding of genetics. For relatives the packages served as a cue to action and as a legitimation to gain access to a diagnostic cholesterol test. Despite the value of these written materials, they should not be used as the only communication between index patient and relatives.     

Evolution of the Colored Eco-Genetic Relationship Map (CEGRM) for Assessing Social Functioning in Women in Hereditary Breast-Ovarian (HBOC) Families

The CEGRM was initially conceived as a simple, concise, visual representation of the social interaction domains of information, tangible services and emotional exchanges (Kenen, R., & Peters, J. (2001). J Genet Counsel, 10, 289–309). A blend of the genetic pedigree, genogram, and ecomap, the CEGRM was developed to facilitate contemporary genetic counseling goals. An exploratory pilot study of 20 subjects showed that it was feasible, comfortable and efficiently accomplished, and that the process was useful both for assessment and as an intervention with study participants (Peters, J. A., Kenen, R., Giusti, R., Loud, J., Weissman, N., & Greene, M. H. (2004). Am J Med Genet Part A, 130A, 258–264). Subsequently, we have extended the CEGRM to 150 women from hereditary breast/ovarian cancer (HBOC) families; three different investigators have successfully administered this tool. The preliminary findings from the exploratory study were confirmed in the larger sample. Engaging in the interactive, insight-promoting CEGRM process provides a novel tool for assessing the social context of genetic testing, and helping high-risk women better understand and integrate genetic information into their personal and family identities, health beliefs, and decisions.     

Participation in Breast Cancer Genetic Counseling: The Influence of Educational Level, Ethnic Background, and Risk Perception

Genetic counseling has been suggested as a means of providing information and support to women with a family history of breast cancer. Yet women who undergo cancer genetic counseling in the United States generally consist of only a subset of those at risk, namely well-educated, upper-middle class, European American and Jewish women. We report outcomes from a study that provided a unique opportunity to determine whether women of African American, European American, Native American, or Ashkenazi Jewish ancestry have varying interest in having cancer genetic counseling. The study offered a genetic counseling session to 97 women with a family history of breast cancer who were participating in a larger interview study designed to assess attitudes toward genetic testing for breast cancer. The study offered genetic counseling free of charge to all study participants with a family history of breast cancer, removing the potential barriers of cost, the need for a physician referral, and lack of awareness of genetic counseling. Fifty women out of the 97 women offered genetic counseling (52%) accepted the offer by completing a session. Those who accepted genetic counseling had a higher educational level, a higher perceived risk of breast cancer, and were more likely to expect a positive BRCA1 or BRCA2 genetic test if they were to undergo genetic testing. When controlling for education level, there was no correlation between the participants' ethnic background and acceptance of a genetic counseling session. Outreach efforts to minority populations may increase awareness of the availability of genetic counseling and may facilitate participation by such populations.     

Challenges for aging Holocaust survivors and their children: The impact of early trauma on aging

ABSTRACT

Is the impact of early trauma continually present or does the negative psychological impact disappear when survivors are younger and then reappear as they age? In Transcending Trauma Project interviews survivors noted the impact of the Holocaust was always present but some stated that it increased as they aged. A small number of children of survivors interviewed observed a dependence upon defense mechanisms to cope with aging which differed from the survivors’ identification of using active and family coping strategies during the war and postwar years. Though children who experienced positive parent-child relationships mentioned the negative coping strategies, they also spoke positively of the impact of their parents in their own lives and expressed empathy for their parents. In the families where tensions existed between the survivors and their children, the children did not express empathy for their aging parents. Several studies supported the importance of family relationships in the aging process. This secondary analysis study further explored the impact of the Holocaust in aging survivors and the views of some children of survivors on aging.