Negotiating Responsibility: Case Studies of Reproductive Decision-Making and Prenatal Genetic Testing in Families Facing Huntington Disease

Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.     

Risk-Reduction Surgery Decisions in High-Risk Women Seen for Genetic Counseling

Women at greatest risk for hereditary breast and ovarian cancer may consider prophylactic removal of breasts or ovaries as a risk-reduction measure. This report describes uptake of risk-reduction mastectomy (RRM), risk-reduction oophorectomy (RRO), and related factors in 62 high-risk women who received genetic counseling. Seven (11%) participants underwent RRM and 13 (21%) underwent RRO. Of these women, 37% did not have BRCA testing, suggesting other factors influence decisions to undergo surgery. Women who had indicated (pre-genetic counseling) their intent not to have surgery chose not to have surgery. Information received during genetic counseling that women perceived as being most important for influencing risk-reduction surgery decisions was BRCA test result (positive or negative), followed by discussion of family cancer history. Reasons for indecision about risk-reduction surgery included genetic testing results, concerns about surgery, timing in life, and early menopause. The findings enhance our understanding of information that is helpful to women considering this surgery.     

NSGC Foundations—Then,Now, and Tomorrow

This 2004 Presidential Address was presented at the annual education conference of the National Society of Genetic Counselors in Washington DC on October 9, 2004.     

An Investigation of Genetic Counselors' Discussions of Genetic Discrimination with Cancer Risk Patients

Twenty-five genetic counselors who see familial cancer risk patients were interviewed about their definitions of genetic discrimination, perceptions of patient risk for discrimination, frequency and type of discrimination experienced by their patients, sources of information about discrimination, and what they tell patients about genetic discrimination. There was variability in participant definitions and content of discussions of genetic discrimination. Although 82% regarded risk to be low to theoretical, 40% reported possible instances of genetic discrimination, including insurance companies requiring results to cover procedures, denial of life/health insurance, social discrimination, and employment discrimination. Ninety-six percent of the sample reported always or almost always discussing genetic discrimination, and one or more of the following: insurance discrimination risks, protective legislation, no known cases positively documenting discrimination, strategies to avoid discrimination, and uncertainty of protective measures. The majority use current literature and research as information sources. Practice, policy, and research implications are discussed.     

Uptake of BRCA1 Genetic Testing in Adult Sisters and Daughters of Known Mutation Carriers in Norway

This study was undertaken to examine transmission of information to first-degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life-saving health care was not disseminated to at-risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first-degree relatives, aged 18 years or older (84 females, 88 males). Forty-four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63% of the females underwent genetic testing compared with 24% of the males (p<0.05). The overwhelming majority of adult females at risk opted for genetic testing. Males with daughters more frequently than males without daughters asked for testing. The findings give neither reason to reconsider legislation on privacy, nor for us to consider more aggressive methods of contacting relatives.     

A Prospective Comparison Study of Different Methods of Gathering Self-Reported Family History Information for Breast Cancer Risk Assessment

Currently there is much debate regarding the ability of mathematical models incorporating epidemiological information or mutation-based risk algorithms to accurately predict a woman's risk of developing breast cancer. Without access to accurate family history information these models have limited use. This study compares different methods of gathering family history information and the impact on subsequent risk assessment. These methods were compared to the gold standard interview with a trained genetics' professional. The amount and accuracy of information provided by primary care doctors' letters was found to be poor and better information was obtained by sending a postal questionnaire directly to the patient. Because of the high number of low-risk women referred to clinic a questionnaire (the FCAT) was designed to provide reassurance and piloted as part of this study. This paper highlights the importance of using appropriate methods to gather the family history information. It presents evidence for the importance of a skilled assessor and the need to allow time for women to discuss the importance of this information with their family.     

Le malade génétique responsable « La loi des suspects »

A patient suffers of a genetical disease. He does not wish to inform his family. Is he responsible for a lost of chances of his parents, chances to prevent the disease, or to receive care? Is there a second class of patients?