Martin Richards

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.

Lay and professional knowledge of genetics and inheritance

Despite almost a century of educational effort, studies of both schoolchildren and adults show that the public understanding of Mendelian genetics is very limited. A similar conclusion is drawn from studies of those who have been offered explanations of inheritance in genetic counselling clinics. The aim of this paper is to provide an explanation of these observations. It is argued that Mendelian explanations of inheritance conflict in a number of ways with a lay knowledge of inheritance that is general in society. Furthermore, it is suggested that lay knowledge is grounded in concepts of kinship which are themselves sustained by everyday social practice and relationships, which may make the lay knowledge of inheritance particularly resistant to change. It is suggested that Mendelian explanations may not be easily assimilated because of the conflicts with pre-existing lay knowledge that an individual holds. Preliminary results are described from an empirical study which tests the hypothesis that ideas of genetic connectedness are derived from concepts of kin relationships. The evidence appears to confirm the hypothesis. Parallels are drawn between the history of the acceptance of Mendels ideas in the scientific community and the assimilation (or the lack of it) of Mendelian explanations by the public. The paper concludes with a brief discussion of public education in Mendelian genetics in schools and genetic counselling clinics, and the ways in which it could be more effective.

The portability of the BCPL compiler

Methods of achieving program portability are discussed, with particular reference to the mobility of compilers. The method of transferring the BCPL compiler is then described including the specification of OCODE which is the language used as an interface between the machine independent and machine dependent parts of the compiler.

Issues of consent and feedback in a genetic epidemiological study of women with breast cancer

Women (N=21) who had had breast cancer and had been enrolled in a large genetic breast cancer epidemiological study were interviewed about their experience of participation in the study, their attitudes to the confidentiality of data, and the feedback of personal and general research results. Collection of family history information seemed more salient in indicating the genetic nature of the study than the enrolment information sheet. There were no concerns about confidentiality. While participants would have welcomed general feedback about the results of the study and were critical that this had not been provided, the feedback of personal information proved complicated and, sometimes, difficult. It is suggested that individual feedback of genetic test information in epidemiological studies should be undertaken only when there are specific reasons.

Surveillance or surgery? A description of the factors that influence high risk premenopausal women's decisions about prophylactic oophorectomy

Editor—Approximately 5% of cases of epithelial ovarian cancer result from an inherited susceptibility.1 Some of the genetic mutations responsible have recently been identified.2-5 It is estimated that BRCA1 carriers have a 28% lifetime risk of developing ovarian cancer,6 while BRCA2 carriers have a risk of 0.4% of developing ovarian cancer at the age of 50, which rises to 27% by the age of 70.7 The recommended management of high risk women is either annual ovarian screening (transvaginal ultrasound) with serum CA125 measurement or bilateral prophylactic oophorectomy from the age of 35 onwards, or once childbearing is completed.8-11 As there is no evidence that ovarian screening is effective in reducing mortality, it is currently assumed that prophylactic surgery is the best form of risk management,12-14 although data suggest that intra-abdominal carcinomas may still arise following this procedure.15-17 There is little published research on the uptake of preventative surgery in at risk women18 or mutation carriers.19 20 However, it is generally assumed that there will be an increase in demand for prophylactic surgery, as direct mutation testing becomes more widely available. Epidemiological studies suggest that prophylactic oophorectomy may play a role in the prevention of breast cancer in high risk populations.21 22 Therefore, there may be a case for informing women at risk of breast cancer about this option. If health professionals are to facilitate informed decision making about ovarian cancer risk management, then they need to be aware of the factors that influence womens decisions about prophylactic surgery. There are few published data that describe the factors that influence womens decisions to undergo prophylactic surgery because of their inherited risk of developing cancer. Studies of high risk women who have undergone prophylactic mastectomy to manage their risk of breast …

Family history and perceived vulnerability to some common diseases: a study of young people and their parents.

During the last two decades, health promotion has concentrated on lifestyle factors. However, recent research in genetics has shown that inherited susceptibility may be important in many common conditions. This raises questions about how these two different messages are integrated into peoples beliefs about their own susceptibility. We report a study based on interviews with 58 young people, who had all recently completed the National Curriculum science course including basic human genetics, and 54 of their parents. We aimed to examine the extent to which people take account of family history when considering their susceptibility to health risks, with comparisons being made between generations, gender, and between different diseases. Family health histories were compared between generations and the relationship between reported family history and perceived vulnerability was examined. Family health history was seen as more relevant for a perceived vulnerability to heart disease and diabetes than cancer, while actions and behaviour were seen as important in determining the chance of developing heart disease and cancer but less so for diabetes. Chance was seen as an important factor in the risk of cancer and diabetes, but was barely mentioned in connection with heart disease. Nearly half of those who reported affected family members with heart disease or cancer did not perceive this to have any effect on their own susceptibility. Notably, women were much more likely than men to see the presence or absence of affected relatives as being relevant to the chances of developing cancer. Differences were found between generations in the reporting of the family tree and in knowledge of health of family members. Although words such as genes, chromosomes, and DNA were used by both generations there was no evidence of any understanding of the process of inheritance in scientific terms.

Counseling families with hereditary breast and ovarian cancer: A psychosocial perspective

Genetic linkage studies have established that a gene with mutations predisposing to breast and ovarian cancer (BRCA1) is located on chromosome 17q. The gene has been cloned and some of its many mutations described (Easton et al., 1994; Ponder, 1994). A second gene BRCA2 has been located (Wooster et al., 1994). The existence of other dominantly inherited predisposing genes has been suggested (Sobol et al., 1994). Family history clinics have been set up to provide counseling for those from families with a history of breast and/or ovarian cancer (e.g., Evans et al., 1994). Numbers seen in such clinics are as yet small but the potential demand is very large. Therefore, there is an urgent need to develop services in view of the likely rapid increase in numbers of women coming forward for genetic counseling. This paper aims to set out the issues which arise in, and are in some cases specific to, hereditary breast and ovarian cancer counseling from a psychosocial perspective and to describe the key elements in a genetic explanation which family members may require in order to make appropriate decisions. It supplements the recommendations for counseling that have been produced in Britain (Evans et al., 1992, 1994), and the USA (Biesecker et al., 1993; King et al., 1993; Lerman and Croyle, 1995; Lynch and Watson, 1992; Ngan and Shepherd, 1994). It is based on observations and pilot interviews for an ongoing study of lay knowledge and communication in families with genetic disorders which has involved interviews with members of families who carry hereditary breast and/or ovarian cancer. Work

Avoiding the issue: Patients' (non)communication with potential living kidney donors

OBJECTIVE Kidney transplantation with a living donor has proved to be an effective solution for kidney patients on the waiting list for transplantation. Nevertheless, it may be difficult to find a living kidney donor. The purpose of this explorative study is to investigate how kidney transplant candidates may, or may not, find a living donor in the Netherlands. METHODS We compared a group of 42 patients who did not find a living donor with a group of 42 patients who did, using semi-structured interviews. RESULTS We found that, although almost all patients recognized the advantages of living kidney donation and were willing to accept the offer of a living kidney donor, many found it very difficult to ask a potential donor directly. This was true for both groups. CONCLUSION Patients may gain from professional support to deal with this situation in ways that balance their medical needs and their personal relationships. PRACTICE IMPLICATIONS Support programs should be developed to assist patients in developing strategies for discussing living kidney donation with potential donors.

Genetics and public health - evolution, or revolution?

During the 19th and early 20th century, public health and genetics shared common ground through similar approaches to health promotion in the population. By the mid-20th century there was a division between public health and genetics, with eugenicists estranged and clinical genetics focused on single gene disorders, usually only relevant to small numbers of people. Now through a common interest in the aetiology of complex diseases such as heart disease and cancer, there is a need for people working in public health and genetics to collaborate. This is not a comfortable convergence for many, particularly those in public health. Nine main concerns are reviewed: fear of eugenics; genetic reductionism; predictive power of genes; non-modifiable risk factors; rights of individuals compared with populations; resource allocation; commercial imperative; discrimination; and understanding and education. This paper aims to contribute to the thinking and discussion about an evolutionary, multidisciplinary approach to understanding, preventing, and treating complex diseases.

How Distinctive is Genetic Information

Abstract There is extensive discussion of the ethical, social, economic and political issues associated with the use of technologies based on DNA techniques. Many of these debates are premised on the assumption that DNA, and the genetic information that may be derived from it, have unique features which raise new social and ethical issues. In this paper it is argued that several of the features associated with DNA which are sometimes regarded as unique are shared with other biological materials. Others owe more to the cultural image of DNA and some of the metaphors used to discuss it in biology and in wider debates than to the biological properties of DNA. The paper discusses the concepts of genetic material and genetic information and the social construction of DNA in relation to forensic DNA databases, paternity testing and genetic testing for disease. The paper concludes by suggesting that there are seven areas where issues related to DNA and genetic information are at least relatively distinct.