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.     

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.     

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.     

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.     

Results of an Intervention for Individuals and Families with <Emphasis Type="Italic">BRCA</Emphasis> Mutations: A Model for Providing Medical Updates and Psychosocial Support Following Genetic Testing

Providing medical management updates and long-term support to families with hereditary cancer syndromes in rural areas is a challenge. To address this, we designed a one-day retreat for BRCA1/2 carriers in our region. The retreat included educational updates about medical management, genetic privacy and discrimination, and addressed psychological and family issues. Evaluations completed at the conclusion of the retreat were overwhelmingly positive with requests for a similar event in the future. The impact of this retreat on a variety of health behaviors was assessed. Eligible participants completed questionnaires before and 6 months after the retreat. Questionnaires focused on lifestyle, cancer screening and prevention practices, psychological history and distress, decision-making regarding genetic testing, and family communication issues. For individuals who completed both the pre and post retreat questionnaires, one-half made lifestyle changes and nearly two-thirds increased cancer screening, initiated chemoprevention, completed or planned to complete preventative surgery in the future. We conclude that this type of forum provides a valuable opportunity for BRCA carriers and their families to receive updated medical information, share personal experiences, provide and receive support, as well as change health behaviors.     

Psychosocial Issues That Face Patients With Charcot-Marie-Tooth Disease: The Role of Genetic Counseling

Charcot-Marie-Tooth (CMT) disease is a hereditary debilitating progressive muscular atrophy and sensory neuropathy of the distal extremities. CMT is usually nonlife threatening. Signs of the disease usually present in childhood or in young adulthood and the level of disability can be variable within and between families. Research addressing specific psychosocial and emotional issues faced by individuals with CMT is limited. Fourteen adults with a clinical and/or molecular diagnosis of CMT (ages 32–74 years) consented to an audio taped interview. The format of the interview was based around an informal questionnaire to prompt and guide the interviewee to describe their experiences of living with a disabling genetic disorder. The interviews focused on their experiences of first symptoms and diagnosis, their life experience with CMT, their limitations due to disability and the role of genetic counseling. This study identifies and explores life issues that individuals with CMT may face, specifically grief over the loss of independence, emotional pain and stress such as embarrassment and guilt of passing on a gene mutation, impact on quality of life, the impact of wearing orthopedic devices, and fear of progressive disability. Our findings suggest that that there are emotional and psychosocial issues specific to affected individuals at different life stages and genetic counselors need to be aware of these issues in order to provide age appropriate support and advice to individuals affected by CMT.     

The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease

Inflammatory bowel disease (IBD) is an umbrella term referring to two chronic idiopathic intestinal diseases: ulcerative colitis (UC) and Crohn’s disease (CD). Both UC and CD are characterized by immune activation that leads to symptoms, but the location, severity and behavior of the inflammation varies among individuals and in characteristic ways between UC and CD. A majority of patients with IBD are diagnosed in young adulthood, but the response to therapy is variable and difficult to predict, with some patients demonstrating a prompt and effective remission while others have continuous symptoms that do not respond to existing medical options. Surgery remains a frequent and necessary occurrence among patients with IBD, but in UC it is considered curative, while in CD only temporizing. Clinical observations, epidemiological studies, and molecular genetics have provided strong evidence that both genetic and environmental factors are important determinants for disease susceptibility. In recent years, a number of genes have been identified that associate with CD and UC, although the clinical utility of these discoveries in patients or in susceptible family members has not been determined. Nonetheless, it is hoped that these fundamental advances in our understanding of IBD will lead to better therapies for patients and prevention strategies for those who are susceptible. Effective incorporation of clinical genetic testing for IBD into practice will require appropriate education and counseling.     

The Prophylactic Mastectomy Dilemma: A Support Group for Women at High Genetic Risk for Breast Cancer

The goal of this pilot study was to test the usefulness of a six session psychoeducational support group for women at high genetic risk for breast cancer who were considering prophylactic mastectomy. The themes of the group sessions included overestimation of and anxiety about risk; desire for hard data; the emotional impact of watching a mother die of breast cancer; concerns about spouse reactions; self- and body image; the decision-making process; and confusion over whom to trust in decision making. Both the participants and the multidisciplinary leaders concluded that as a supplement to individual counseling, a support group is a beneficial and cost-effective treatment modality. Recommendations for the optimal format for such a group are described.