Regina Kenen

Characteristics of Health Information Gatherers, Disseminators, and Blockers Within Families at Risk of Hereditary Cancer: Implications for Family Health Communication Interventions

OBJECTIVES Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blockers of health information within families at high genetic risk of cancer. METHODS A total of 5466 personal network members of 183 female participants of the Breast Imaging Study from 124 families with known mutations in the BRCA1/2 genes (associated with high risk of breast, ovarian, and other types of cancer) were identified by using the Colored Eco-Genetic Relationship Map (CEGRM). Hierarchical nonlinear models were fitted to characterize information gatherers, disseminators, and blockers. RESULTS Gatherers of information were more often female (P<.001), parents (P<.001), and emotional support providers (P<.001). Disseminators were more likely female first- and second-degree relatives (both P<.001), family members in the older or same generation as the participant (P<.001), those with a cancer history (P<.001), and providers of emotional (P<.001) or tangible support (P<.001). Blockers tended to be spouses or partners (P<.001) and male, first-degree relatives (P<.001). CONCLUSIONS Our results provide insight into which family members may, within a family-based intervention, effectively gather family risk information, disseminate information, and encourage discussions regarding shared family risk.

Stigmatization of carrier status: social implications of heterozygote genetic screening programs.

Possible latent psychological and social consequences ensuing from genetic screening programs need to be investigated during the planning phase of national genetic screening programs. The relatively few studies which have been performed to determine psychological, social, and economic consequences resulting from a genetic screening program are reviewed. Stigmatization of carrier-status, having major psychosocial implications in heterozygote genetic screening programs, is discussed and related to Erving Goffmans work in the area of stigmatization. Questions are raised regarding the relationship between such variables as religiosity and sex of the individual and acceptance of the status of newly identified carrier of a mutant gene. Severity of the deleterious gene and visibility of the carrier status are two important factors to consider in an estimation of potential stigma. Specific implications are discussed for four genetic diseases: Tay-Sachs, Sickle-Cell Anemia, Huntingtons disease and Hemophilia.

Living with chronic risk: healthy women with a family history of breast/ovarian cancer

This paper investigates how healthy women with a family history of breast/ovarian cancer live with their heightened awareness of risk, and introduces a chronic risk perspective for studying this topic. Healthy women from these at-risk families and individuals suffering from a chronic illness address many of the same issues concerning adaptation to biographical disruption and an uncertain future. We report on risk perception, family history, life stages, biographical interruptions and the womens attempts to control their risk through a healthy life style and health care beliefs and practices. We conducted an exploratory, qualitative study at a major clinical and research cancer centre in the UK from January – June 2000 that was approved by the hospital clinical research and ethics committees. Twenty-one semi-structured, in-depth interviews were conducted using a purposive sample of women coming to the cancer genetics risk clinic for the first time. We found that the women used various coping strategies in order to ‘get on with their lives’—one not dominated by thoughts about long-term risk for cancer. Many women believed that a healthy life style, stress reduction and participating in an annual screening programme for breast/ovarian cancer was the best way to achieve their goal.

Sisters in hereditary breast and ovarian cancer families: communal coping, social integration, and psychological well-being

Objective: We investigated the association between psychological distress and indices of social integration and communal coping among sisters from hereditary breast and ovarian cancer (HBOC) families.

Barriers to family planning services among patients in drug treatment programs.

In July 1989, family planning services were integrated into 13 drug treatment programs in Philadelphia. To obtain information on the family planning needs of women in drug treatment programs, baseline interviews were conducted with 599 women. Three-quarters of these women had had a sexually transmitted disease, and although they were in a drug treatment program, 41 percent had injected drugs in the previous month. In addition, 62 percent of the women who were sexually active in the previous month had not used a contraceptive. Twelve months into the program, seven focus groups were conducted with 65 women and men to learn more about their opinions and attitudes related to contraceptives and family planning services in general. The discussions revealed that many of the participants were unsure what family planning services included, saw no need for such services or had had prior negative experiences with health care providers. There was also a great deal of misinformation about contraceptives and the effects they have on health.

Social separation among women under 40 years of age diagnosed with breast cancer and carrying a BRCA1 or BRCA2 mutation

We conducted an exploratory, qualitative study investigating experiences of women who had developed breast cancer under the age of 40 and who were identified as BRCA1 or BRCA2 mutation carriers. These germline mutation carriers face an increased lifetime risk of a second primary breast cancer and an increased risk for a primary ovarian cancer. Thirteen women who fit this criteria participated in three focus groups conducted at a major cancer center in the UK during Spring 2003. We asked broad, open-ended questions that allowed for a wide range of responses about their cancer and genetic testing experiences, physical and psycho-social concerns, family and partner reactions and their need for social support. The women expressed feelings of devastation, loneliness, feeling different and isolation, ambivalence about having to support family members, worries about partner’s anxiety and depression, and anxiety about talking to family members, especially children. These feelings were stronger after the cancer diagnosis and compounded by the genetic test results that occurred at a later time. We also found that, at least temporarily, the women experienced what we call “social separation”—emotional distance from, or dissonance with groups they interact with or are part of, e.g., family and friends, frequently leading to a reduction in communication or a change in previously unstated, but accepted normal interaction. We concentrate on a few characteristics of social separation—feelings of aloneness, isolation and separation, use of silence and verbal discretion, the relationship between estrangement and kinship interaction and norm disruption, and are looking at social patterns of interpersonal relationships that may occur when risk and illness statuses are new and framing and feeling rules have not as yet been clearly developed due to a cultural lag.

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 why, when and whether of condom use among female and male drug users.

Eight focus groups consisting of all male, all female and mixed male and female drug users were conducted to gain an indepth understanding of beliefs and behavior regarding the use of family planning services and contraceptives, particularly condom use in an effort to reduce the perinatal transmission of HIV. While participants often supported the use of condoms because of STDs and AIDS, their unplanned pregnancies and STD histories indicated inconsistent use, depending on the partner and the circumstances. The vast majority of both men and women did not like to use condoms because it interfered with the spontaneity and pleasure of sexual relations, though women seemed more willing to use condoms than their partners.Participants varied in their knowledge about the benefits of using a condom, in how and when to put it on, in the associations they made between condom use and trust and commitment, in the type of partner and conditions under which they would use condoms and in their willingness to consider condom use as an integral part of their lives.Issues of trust, commitment and condom use did not seem to have been resolved in the drug using community, particularly among younger people who appeared to have more difficulty in negotiating condom use. Promoting the use of condoms needs to be considered as part of a larger, multifaceted behavior change effort.Eight focus groups consisting of all male, all female and mixed male and female drug users were conducted to gain an indepth understanding of beliefs and behavior regarding the use of family planning services and contraceptives, particularly condom use in an effort to reduce the perinatal transmission of HIV. While participants often supported the use of condoms because of STDs and AIDS, their unplanned pregnancies and STD histories indicated inconsistent use, depending on the partner and the circumstances. The vast majority of both men and women did not like to use condoms because it interfered with the spontaneity and pleasure of sexual relations, though women seemed more willing to use condoms than their partners. Participants varied in their knowledge about the benefits of using a condom, in how and when to put it on, in the associations they made between condom use and trust and commitment, in the type of partner and conditions under which they would use condoms and in their willingness to consider condom use as an integral part of their lives. Issues of trust, commitment and condom use did not seem to have been resolved in the drug using community, particularly among younger people who appeared to have more difficulty in negotiating condom use. Promoting the use of condoms needs to be considered as part of a larger, multifaceted behavior change effort.

Genetic counseling: The development of a new interdisciplinary occupational field

A power approach to the study of occupations is used to understand the development of a new occupation--the Masters level genetic counselor. The internal dimension of the power perspective is utilized in analyzing this new health care providers efforts to gain a place alongside practitioners who possess medical or doctoral degrees. The external dimension is used to focus on the relationship between occupational control and other institutional bases of power in the society. The status of genetic counselor is compared to that of the nurse-practitioner and nurse-midwife. Claims of expertise regarding control over indetermination and uncertainty are discussed as well as societys willingness to accept these assertions.

Is no news good news? Inconclusive genetic test results in BRCA1 and BRCA2 from patients and professionals' perspectives.

BackgroundWomen from families with a high risk of breast or ovarian cancer in which genetic testing for mutations in the BRCA1/2 genes is inconclusive are a vulnerable and understudied group. Furthermore, there are no studies of the professional specialists who treat them - geneticists, genetic counsellors/nurses, oncologists, gynaecologists and breast surgeons.MethodsWe conducted a small qualitative study that investigated women who had developed breast cancer under the age of 45 and who had an inconclusive BRCA1/2 genetic diagnostic test (where no mutations or unclassified variants were identified). We arranged three focus groups for affected women and their close female relatives - 13 women took part. We also interviewed 12 health professionals who were involved in the care of these women.ResultsThe majority of the women had a good grasp of the meaning of their own or a family members inconclusive result, but a few indicated some misunderstanding. Most of the women in this study underwent the test for the benefit of others in the family and none mentioned that they were having the test purely for themselves. A difficult issue for sisters of affected women was whether or not to undertake prophylactic breast surgery. The professionals were sensitive to the difficulties in explaining an inconclusive result. Some felt frustrated that technology had not as yet provided them with a better tool for prediction of risk.ConclusionsSome of the women were left with the dilemma of what decision to make regarding medical management of their cancer risk. For the most part, the professionals believed that the women should be supported in whatever management decisions they considered best, provided these decisions were based on a complete and accurate understanding of the genetic test that had taken place in the family.