Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.

Many factors predict the intention to disclose genetic information to relatives. The article examines the impact of patients' socio-demographic factors on their intention to disclose genetic testing results to their relatives. Data were collected in eight genetic clinics in Israel. Patients were requested to fill in a questionnaire after counseling. A convenience sample of 564 participants who visited these clinics was collected for a response rate of 85 %. Of them, 282 participants came for susceptibility testing for hereditary cancers (cancer group), and 282 for genetic screening tests (prenatal group). In the cancer group, being secular and having more years of education correlated positively with the intention to disclose test results to relatives. In the prenatal group, being married and female correlated positively with the intention to disclose. In the cancer group, being religious and with less years of education correlated positively with the view that the clinician should deliver the results to the family. In the prenatal group, being male and unmarried correlated positively with this belief. In both groups, being of young age correlated with the perception that genetic information is private. Varied sociodemographic factors affect the intention to inform family members. Thus, knowing the social background of patients will shed light on people's attitudes to genetic information and will help clinicians provide effective counseling in discussions with patients about the implications of test results for relatives.

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes.

Preimplantation genetic diagnosis (PGD) allows couples to avoid having a child with an inherited condition, potentially reducing cancer burden in families with a hereditary cancer predisposition. This study investigated and compared awareness and acceptance of PGD among patients with different hereditary cancer syndromes. Questionnaires were mailed to 984 adults with hereditary breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, or multiple endocrine neoplasia type 1 or 2. Associations between clinical, demographic, and psychosocial factors and awareness and acceptance of PGD were examined. Of 370 respondents (38 % return rate), 28 % felt their syndrome impacted family planning, 24 % were aware of PGD, 72 % felt that PGD should be offered, 43 % would consider using PGD, and 29 % were uncertain. Family experience and syndrome-specific characteristics, such as disease severity, quality of life and availability of medical interventions as well as gender, family planning stage, and religiosity impact perceptions of the acceptability of PGD, though a high level of uncertainty exists. Hereditary cancer patients lack awareness of PGD despite feeling that PGD should be offered, highlighting the need for education on this topic. While we found attitudes about the acceptability of PGD to be generally similar to those reported in the literature and of genetics and ethics experts, we observed similarities and differences between syndromes that provide insight into why some hereditary cancer patients may find PGD more acceptable than others.

Working toward an understanding of the impact of hereditary cancers.

Hereditary diffuse gastric cancer is a genetically inherited aggressive form of stomach cancer. Once the person is diagnosed as having this gene, they have a 75%-80% chance of inheriting the cancer. People who are at risk of this genetic mutation have to meet many challenges relating to the implications of the disease. An understanding is required by nurses to guide them in the provision of care for those afflicted with this inherited form of gastric cancer. A review of literature has been undertaken relating to other genetically inherited cancers including hereditary nonpolyposis colon cancer, familial adenomatous polyposis, and hereditary lobular breast cancer. The findings from the literature assist nurses in understanding the physical and psychological implications of genetically inherited cancer; however, further study is required to gain a complete understanding of the implications of hereditary diffuse gastric cancer.

Ethical implications of genetic testing for breast cancer susceptibility.

The identification of gene mutations involved in hereditary breast cancer is a major recent scientific discovery, enabling us to identify women at very high risk, and also providing the means to understand the biology of breast cancer and to explore novel preventive strategies. Yet, it carries medical, psychological, ethical and social implications. This paper is a review of all the ethical implications of genetic testing for breast cancer predisposition, as well as an attempt to discuss the more philosophical questions of women facing BRCA testing. To what extent does the individual benefit from genetic knowledge? Some women look with trepidation upon the potential of planning their life in view of a risk, while others believe that only through knowledge and awareness we can improve control of our life. The risk of breast cancer may be qualitatively so important to justify all the potential risks of finding out about it.

Ethical, social and economic issues in familial breast cancer: a compilation of views from the E.C. Biomed II Demonstration Project.

Demand for clinical services for familial breast cancer is continuing to rise across Europe. Service provision is far from uniform and, in most centres, its evolution has been determined by local conditions, specifically by local research interests, rather than by central planning. However, in a number of countries there is evidence of progress towards co-ordinated development and audit of clinics providing risk assessment, counselling, screening and, in some cases, prophylactic intervention. Much important information should emerge from continued observation and comparative assessment of these developments. In most countries for which relevant data are available, there is a distinct bias towards higher social class among those who avail themselves of clinic facilities (in line with findings from many other health-promotion initiatives). This should be addressed when considering future organisation of clinical services. Molecular genetic studies designed to identify the underlying mutations responsible for familial breast cancer are not generally regarded as part of the clinical service and are funded through research grants (if at all). Economic considerations suggest that there is a case for keeping this policy under review. Familial cancers throw into sharp relief certain ethical and legal issues that have received much recent attention from government advisory bodies, patients' representatives, professional commentators and the popular media. Two are of particular importance; first, the right to gain access to medical records of relatives, in order to provide accurate risk assessment for a given family member, versus the right to privacy in respect of personal medical information and, second, the obligation (or otherwise) to inform family members of their risk status if they have not actively sought that knowledge. The legal position seems to vary from country to country and, in many cases, is unclear. In view of pressures to establish uniform approaches to medical confidentiality across the EC, it is important to evaluate the experience of participants in this Demonstration Programme and to apply the principle of "non-malfeasance" in formulating regulations that should govern future practice in this field. Data on economic aspects of familial breast cancer are remarkably sparse and outdated. As evidence accrues on the influence of screening and intervention programmes on morbidity and mortality, there is a strong case for evaluating the cost-effectiveness of different models of service provision.

Genetic cancer risk assessment. Putting it all together.

Dramatic advances in our understanding of the genetic basis for cancer have led to the development of new technologies and tools for genetic cancer risk assessment. Yet, cancer is a complex disorder, and risk assessment, counseling, and management strategies need to consider several important domains: state of cancer genetics knowledge, state of mind (previous cancer experience within the family), state of technology, and state of the art in terms of management. There are several barriers to the efficient identification and counseling of patients and families at high risk for cancer because of inherited susceptibility mutations. Chief among these concerns is the lack of access to competent counseling and education services that are equipped to handle the complex and rapidly evolving medical, technological, and ethical issues. Cancer risk assessment is developing into a distinct discipline in which established empiric risk models are recast along with rapidly evolving genetic technologies for estimation of individual cancer risk. Cancer genetics consultants are an important resource for primary care physicians, gynecologists, surgeons, and oncologists. However, no formal qualification criteria exist for either physicians or allied health care professionals who subspecialize in this new field. This article covers the unique domains of cancer genetics in health care and surveys models for delivery of cancer genetics services and tools for risk assessment. Coupled with innovative cancer diagnostic and preventive services and research, we have the potential to make great strides in cancer prevention and control.

Integration of family history and medical management of patients with hereditary cancers.

The family histories of individuals affected by a wide variety of cancers have provided information about the principal features of hereditary cancer. Surveillance protocols, indicating the most appropriate modalities and the age at which to initiate them, have been derived from what has been learned about the age of onset and the cancer sites associated with specific cancer syndromes. Likewise, cancer management has been based on what is known of the natural history of the syndrome cancers from studying multiple affected families. Family history has even been an essential tool for molecular geneticists as they have mapped and eventually identified genes for such cancer syndromes as hereditary breast ovarian carcinoma (HBOC), familial adenomatous polyposis (FAP), and hereditary nonpolyposis colon carcinoma (HNPCC). Despite the rapid integration of molecular genetics into the diagnosis and management of individuals at high risk for hereditary cancer, family history remains an essential tool in all aspects of cancer genetic health services. Recognition of a hereditary cancer syndrome through a family's history offers a primary care provider an opportunity to intervene on behalf of not just one patient but an entire family. Once hereditary cancer is identified, the information that has been learned and the protocols developed from numerous family histories can be applied to one individual or family based on their specific family history.