Heiddis B. Valdimarsdottir

Quality-of-Life Effects of Prophylactic Salpingo- Oophorectomy Versus Gynecologic Screening Among Women at Increased Risk of Hereditary Ovarian Cancer

PURPOSE Recommendations for women at high risk of ovarian cancer include periodic gynecologic screening (GS) and prophylactic bilateral salpingo-oophorectomy (PBSO). The aim of the current study was to determine the quality-of-life (QOL) effects of PBSO versus GS. PATIENTS AND METHODS Questionnaire data were obtained from 846 high-risk women who had participated in this nationwide, cross-sectional, observational study. Forty-four percent of the women had undergone PBSO, and 56% had opted for GS. Topics addressed by the questionnaire included generic QOL, cancer-specific distress, endocrine symptoms, and sexual functioning. RESULTS No statistically significant between-group differences were observed in generic QOL (Short Form-36), with women in both the PBSO and GS groups scoring similarly to the general population. Compared with GS, PBSO was associated with fewer breast and ovarian cancer worries (P < .001) and more favorable cancer risk perception (P < .05). However, the PBSO group reported significantly more endocrine symptoms (P < .001) and worse sexual functioning (P < .05) than the GS group. Eighty-six percent of women would choose PBSO again, and 63% would recommend it to a friend with familial risk of ovarian cancer. CONCLUSION PBSO had no measurable adverse impact on generic QOL of high-risk women. The favorable effects of PBSO in terms of reduced cancer worries and low perceived cancer risk need to be weighed against the increase in endocrine and sexual symptoms. Balanced information will help clinicians and high-risk women to make informed decisions about the optimal preventive health strategy.

Decision-making about genetic testing among women at familial risk for breast cancer.

Objective Recent identification of the breast-ovarian cancer susceptibility gene BRCA1 and the breast cancer susceptibility gene BRCA2 have raised the possibility of clinical genetic testing for breast cancer susceptibility. This study examined decision-making about future susceptibility testing among women at familial risk for breast cancer. Based on the transtheoretical model, it was hypothesized that readiness to undergo testing would be related to the ratio between the perceived advantages (pros) and disadvantages (cons) of learning ones susceptibility status. Methods Seventy-four women with one or more first-degree relatives with breast cancer were recruited before a routine mammogram. Participants completed measures assessing readiness to undergo testing, perceived pros and cons of testing, and perceived breast cancer risk. Family history data was used to calculate empiric genetic risk of developing breast cancer. Results Forty-six per cent of participants planned to seek genetic testing as soon as possible, 35% planned to seek testing in the future, and 19% did not plan to seek testing. As expected, greater readiness to undergo testing was associated with a positive decisional balance (pros > cons). Older age and greater perceived risk (but not empiric risk) also were associated with greater readiness. Conclusion The readiness of many women to seek breast cancer susceptibility testing can be attributed, in large part, to their perceptions that the advantages outweigh the disadvantages. Examination of these perceptions suggests that notification of carrier status may have significant effects on womens psychological well-being and breast cancer surveillance and prevention behaviors.

The Impact of Hormone Replacement Therapy on Menopausal Symptoms in Younger High-Risk Women After Prophylactic Salpingo-Oophorectomy

PURPOSE Preventive health strategies for women at increased hereditary risk of ovarian cancer include gynecologic screening (GS) and/or prophylactic oophorectomy (PBSO). Hormone replacement therapy (HRT) is often prescribed to compensate for postsurgical endocrine deficiencies. This study examined the impact of HRT use on levels of endocrine symptoms and sexual functioning among premenopausal women who have undergone PBSO. Comparisons were made with similar women undergoing GS. PATIENTS AND METHODS Questionnaire data on endocrine symptoms and sexual functioning were obtained from 450 premenopausal, high-risk women who had participated in this nationwide, cross-sectional, observational study. RESULTS Thirty-six percent of women had undergone PBSO and 64% had opted for GS. In the PBSO group, 47% of the women were current HRT users. They reported significantly fewer vasomotor symptoms than nonusers (P < .05). However, compared with premenopausal women undergoing GS, oophorectomized HRT users were more likely to report vasomotor symptoms (P < .01). HRT users and nonusers reported comparable levels of sexual functioning. Compared with women in the GS group, oophorectomized HRT users reported significantly more sexual discomfort due to vaginal dryness and dyspareunia (P < .01). CONCLUSION Although HRT has a positive impact on surgically induced vasomotor symptoms, it may be less effective than is often assumed. Symptom levels remain well above those of premenopausal women undergoing screening, and sexual discomfort is not alleviated by HRT. Physicians need to provide younger high-risk women considering PBSO with realistic information about both benefits and drawbacks of this preventive strategy, including information about premature menopause and HRT.

Looking forward and back: Distress among women at familial risk for breast cancer

Healthy women with family histories of breast cancer in a first-degree relative (FH+) have been reported to exhibit higher levels of breast cancer-related distress than women without family histories of breast cancer (FH−). Recent data suggest that this may be particularly true for women who had parent die of cancer. In live with theories emphasizing the psychological impacts of past stressors and concerns for the future, the present study examined the hypotheses that past cancer stressors (i.e. maternal breast cancer caregiving and death, “Looking Back”) and perceptions of one’s own heightened future risk for developing the disease (“Looking Forward”) would predict current levels of distress. One hundred forty-eight healthy women (57 FH+, 91 FH−) recruited from large medical centers in the New York City area completed measures of breast cancer-related distress, general psychological distress, and items assessing whether or not they had taken care of their mother with breast cancer or had had their mother die from the disease. Consistent with previous research, results indicated that FH+ women whose mothers had died of breast cancer had significantly higher breast cancer-related distress than either FH+ women whose mothers had not died of breast cancer or FH−women (p<.05). Further analyses revealed that FH+ women who had cared for their mothers with breast cancer had higher cancer-related distress than women who did not (p<.01), and that FH+ women whose experience included both caregiving and the death of their mother from breast cancer had the highest levels of cancer-related distress (p<.01) and depressive symptoms (p<.05). Findings also indicated that FH+ women with heightened perceptions of risk for breast cancer had higher levels of distress, independent of past stressors. These findings suggest that psychosocial interventions for women with family histories of breast cancer might be appropriately focused on these issues.

Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: differences across African American, Latina and Caucasian women

Participation in genetic testing for cancer risk is low among women of medically underserved ethnic groups and this is due, in part, to genetic testing attitudes, specifically perceived disadvantages of genetic testing and concerns about possible abuses of genetic testing. The goals of the current study were to: (a) explore genetic testing attitudes, and (b) determine the extent to which ethnicity, awareness of genetic testing, and medical mistrust are associated with genetic testing attitudes. African American, Latina, and Caucasian women (N=273) completed an interview assessing sociodemographic information, genetic testing awareness, medical mistrust, and genetic testing attitudes. Latina participants more strongly agreed with disadvantages of testing than the other ethnic groups. Both Latina and African American women more strongly concurred with concerns about testing abuses compared to Caucasian women. In hierarchical linear regression analyses, Spanish language preference and medical mistrust were the only significant predictors of perceived disadvantages and medical mistrust was the only significant predictor of abuse concerns. These findings support the importance of identifying genetic testing attitudes that may be culturally specific in order to promote culturally competent care by genetic risk professionals.

Randomized Noninferiority Trial of Telephone Versus In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer

PURPOSE Although guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery. PATIENTS AND METHODS Participants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n = 334) or telephone counseling (TC; n = 335). UC participants received in-person pre- and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC. RESULTS TC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d = 0.03; lower bound of 97.5% CI, -0.61), perceived stress (d = -0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d = -0.16; lower bound of 97.5% CI, -0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d = 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d = -1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of

Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology

114 per patient. CONCLUSION Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs.

Conducting Molecular Epidemiological Research in the Age of HIPAA: A Multi-Institutional Case-Control Study of Breast Cancer in African-American and European-American Women

OBJECTIVES:Adult gastroenterologists practicing in New York State were surveyed to determine their practice with regard to identifying family histories consistent with inherited forms of colorectal cancer, and to assess their awareness of cancer genetic counseling and molecular genetic testing for familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC).METHODS:A closed-ended questionnaire was mailed to 815 gastroenterologists identified through the membership Directory of the American Gastroenterological Association (1998). Two mailings resulted in a response rate of 35%.RESULTS:In all, 99% of the gastroenterologists obtained a family history from their patients, and 95% were aware of cancer genetic counseling. However, only 51% would routinely refer patients for genetic counseling before providing cancer predisposition testing. In addition, only 52% were aware of the availability of genetic tests for FAP and 34% for HNPCC. Presented with a family history consistent with HNPCC, 79% could identify the syndrome, 26% recommended genetic counseling for the consultand, and 16% advised appropriate screening, according to current recommendations.CONCLUSIONS:The majority of gastroenterologists do obtain a family history on their patients. However, there is a need for physician education regarding the recognition of pedigrees consistent with inherited colorectal cancer, the genetic counseling process, and the availability of mutation testing for FAP and HNPCC.

Psychological Distress, Health Beliefs, and Frequency of Breast Self-Examination

Breast cancer in African-American (AA) women occurs at an earlier age than in European-American (EA) women and is more likely to have aggressive features associated with poorer prognosis, such as high-grade and negative estrogen receptor (ER) status. The mechanisms underlying these differences are unknown. To address this, we conducted a case-control study to evaluate risk factors for high-grade ER- disease in both AA and EA women. With the onset of the Health Insurance Portability and Accountability Act of 1996, creative measures were needed to adapt case ascertainment and contact procedures to this new environment of patient privacy. In this paper, we report on our approach to establishing a multicenter study of breast cancer in New York and New Jersey, provide preliminary distributions of demographic and pathologic characteristics among case and control participants by race, and contrast participation rates by approaches to case ascertainment, with discussion of strengths and weaknesses.

Randomized Trial of a Decision Aid for BRCA1/BRCA2 Mutation Carriers: Impact on Measures of Decision Making and Satisfaction

Although monthly breast self-examination (BSE) is recommended for early breast cancer detection, most women do not comply. Few studies have examined the impact of psychological distress on BSE frequency. Recent research suggests that it may be particularly important to examine the role of distress in the recently identified phenomenon of BSE overperformance (>1/month). One hundred thirty-five healthy women with and without family histories of breast cancer completed sociodemographic, health belief, general and cancer-specific psychological distress, and BSE frequency questionnaires. The central finding of the study was that BSE underperformance and overperformance had two distinct sets of predictors: health beliefs, specifically barriers against BSE and low confidence in BSE performance, were related to BSE underperformance, while higher levels of psychological distress, particularly cancer-specific intrusive thoughts, were related to BSE overperformance. Findings underscore the need to evaluate BSE under- and overperformance separately and to develop problem-specific interventions to increase compliance with monthly BSE.