Karen Brown

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.

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

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.

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

OBJECTIVE Genetic testing is increasingly part of routine clinical care for women with a family history of breast cancer. Given their substantially elevated risk for breast cancer, BRCA1/BRCA2 mutation carriers must make the difficult decision whether or not to opt for risk reducing mastectomy. To help BRCA1/2 carriers make this decision, the authors developed a computer-based interactive decision aid that was tested against usual care in a randomized controlled trial. DESIGN After the completion of genetic counseling, 214 female (aged 21-75) BRCA1/BRCA2 mutation carriers were randomized to Usual Care (UC; N = 114) or Usual Care plus Decision Aid (DA; N = 100) arms. UC participants received no additional intervention. DA participants were sent the CD-ROM DA to view at home. MAIN OUTCOME MEASURES The authors measured final management decision, decisional conflict, decisional satisfaction, and receipt of risk reducing mastectomy at 1-, 6-, and 12-months postrandomization. RESULTS Longitudinal analyses revealed that the DA was effective among carriers who were initially undecided about how to manage their breast cancer risk. Within this group, the DA led to an increased likelihood of reaching a management decision (OR = 3.09, 95% CI = 1.62, 5.90; p < .001), decreased decisional conflict (B = -.46, z = -3.1, p <002), and increased satisfaction (B = .27, z = 3.1, p = .002) compared to UC. Among carriers who had already made a management decision by the time of randomization, the DA had no benefit relative to UC. CONCLUSION These results demonstrate that BRCA1/BRCA2 mutation carriers who are having difficulty making a breast cancer risk management decision can benefit from adjunct decision support.

Demographic, medical, and psychosocial correlates to CAM use among survivors of colorectal cancer

Goals of workComplementary and alternative medicines (CAM) use among cancer patients is becoming more prevalent; however, our understanding of factors contributing to patients’ decisions to participate in CAM is limited. This study examined correlates of CAM use among colorectal cancer (CRC) survivors, an understudied population that experiences many physical and psychological difficulties.Materials and methodsThe sample was 191, predominantly white, CRC survivors (mean age = 59.9 ± 12.6) who were members of a colon disease registry at a NYC metropolitan hospital. Participants completed assessments of sociodemographic characteristics, psychosocial factors [e.g., psychological functioning, cancer specific distress, social support (SS), quality of life (QOL)], and past CAM use (e.g., chiropractic care, acupuncture, relaxation, hypnosis, and homeopathy).Main resultsSeventy-five percent of participants reported using at least one type of CAM; most frequently reported was home remedies (37%). Younger (p < 0.01) or female patients (p < 0.01) were more likely to participate in CAM than their older male counterparts. Among psychosocial factors, poorer perceived SS (p = 0.00), more intrusive thoughts (p < 0.05), and poorer overall perceived QOL (p < 0.05) were associated to CAM use. In a linear regression model (including age, gender, SS, intrusive thoughts, and perceived QOL), only age remained a significant predictor of CAM use.ConclusionThese findings demonstrate that CAM use is prevalent among CRC survivors and should be assessed routinely by providers. CAMs may serve as a relevant adjunct to treatment among CRC patients as well as an indication of need for additional SS, especially among younger patients.

Tolerance for uncertainty and perceived risk among women receiving uninformative BRCA1/2 test results†

Women who receive uninformative BRCA1/2 genetic test results face ongoing uncertainty about their future cancer risks. This article prospectively examined the influence of intolerance for uncertainty and perceived breast cancer risk on psychological distress following the receipt of uninformative BRCA1/2 test results. Sixty‐four women who received uninformative BRCA1/2 mutation test results completed measures of Intolerance for Uncertainty, perceived breast cancer risk, and measures of cancer‐related, genetic testing, and general distress. Cancer‐related (ΔR2 = 0.18, P ≤ 0.001), general (ΔR2 = 0.04, P ≤ 0.05), and genetic testing distress (ΔR2 = 0.12, P ≤ 0.01) were associated with intolerance for uncertainty at 1 month post‐disclosure. The interaction of intolerance for uncertainty and breast cancer perceived risk predicted cancer‐related (ΔR2 = 0.10, P ≤ 0.001) and genetic testing distress (ΔR2 = 0.09, P ≤ 0.01) at 6 months post‐disclosure. Distress was highest among patients with highest perceived risk and intolerance for uncertainty, suggesting that those who have difficulty coping with their ambiguous risk are at risk for long‐term distress. The clinical and research implications of these results are discussed.

Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial.

Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.

Longitudinal Changes in Patient Distress following Interactive Decision Aid Use among BRCA1/2 Carriers: A Randomized Trial

Background. Increasingly, women with a strong family history of breast cancer are seeking genetic testing as a starting point to making significant decisions regarding management of their cancer risks. Individuals who are found to be carriers of a BRCA1 or BRCA2 mutation have a substantially elevated risk for breast cancer and are frequently faced with the decision of whether to undergo risk-reducing mastectomy. Objective. In order to provide BRCA1/2 carriers with ongoing decision support for breast cancer risk management, a computer-based interactive decision aid was developed and tested against usual care in a randomized controlled trial. Design. Following genetic counseling, 214 female (aged 21–75 years) BRCA1/2 mutation carriers were randomized to usual care (UC; n = 114) or usual care plus decision aid (DA; n = 100) arms. UC participants received no further intervention; DA participants were sent the CD-ROM–based decision aid to view at home. Main Outcome Measures. The authors measured general distress, cancer-specific distress, and genetic testing–specific distress at 1-, 6-, and 12-month follow-up time points postrandomization. Results. Longitudinal analyses revealed a significant longitudinal impact of the DA on cancer-specific distress (B = 5.67, z = 2.81, P = 0.005), which varied over time (DA group by time; B = −2.19, z = −2.47, P = 0.01), and on genetic testing–specific distress (B = 5.55, z = 2.46, P = 0.01), which also varied over time (DA group by time; B = −2.46, z = −2.51, P = 0.01). Individuals randomized to UC reported significantly decreased distress in the month following randomization, whereas individuals randomized to the DA maintained their postdisclosure distress over the short term. By 12 months, the overall decrease in distress between the 2 groups was similar. Conclusion. This report provides new insight into the long-term longitudinal effects of DAs.

The Prophylactic Mastectomy Dilemma: A Support Group for Women at High Genetic Risk for Breast Cancer

The goal of this pilot study was to test the usefulness of a six session psychoeducational support group for women at high genetic risk for breast cancer who were considering prophylactic mastectomy. The themes of the group sessions included overestimation of and anxiety about risk; desire for “hard data”; the emotional impact of watching a mother die of breast cancer; concerns about spouse reactions; self- and body image; the decision-making process; and confusion over whom to trust in decision making. Both the participants and the multidisciplinary leaders concluded that as a supplement to individual counseling, a support group is a beneficial and cost-effective treatment modality. Recommendations for the optimal format for such a group are described.

Development of an Interactive Decision Aid for Female BRCA1/BRCA2 Carriers

Shared decision making between patients and providers is becoming increasingly common, particularly when there is no clear preferred course of action. As a result, decision aids are being adopted with growing frequency and have been applied to many medical decision-making issues. One such issue where there is uncertainty is breast cancer risk management among BRCA1/BRCA2 carriers. We present the development of a CD-ROM decision aid to facilitate risk management decision making in this population. Our decision aid was developed with the intention of providing it through a randomized clinical trial. The CD-ROM is a multimedia, interactive intervention which provides information about breast cancer, risks associated with BRCA1 and BRCA2 mutations, risk management options for hereditary breast cancer, and a breast cancer risk management decision aid. The goal of this CD-ROM, offered as an adjunctive intervention, is to reduce decisional conflict and psychological distress and improve comprehension of risk information, decisional satisfaction, medical adherence, and quality of life for this population of women at increased risk for breast cancer.

Association between temporal orientation and attitudes about BRCA1/2 testing among women of African descent with family histories of breast cancer.

OBJECTIVE Previous studies have identified specific attitudes (pros and cons) about BRCA testing held by women of African descent that are associated with decisions to participate in testing. These testing attitudes may be determined, in part, by temporal orientation, or how one perceives the significance of events and the consequences of their actions in terms of past, present, and future. The current study explored the relationship between temporal orientation and pros and cons of BRCA testing among 140 women of African descent with a family history suggestive of a genetic mutation predisposing to breast cancer. METHODS Participants completed measures of temporal orientation and genetic testing attitudes. RESULTS Multivariate analyses indicated that future orientation was positively associated with perceived pros of testing. Additional analyses revealed significant associations between temporal orientation and specific item subsets related to the negative and positive impact of testing on family and personal control over ones health. CONCLUSION These results support an association between temporal orientation and attitudes about BRCA testing among women of African descent with family histories of breast cancer. PRACTICE IMPLICATIONS Findings support exploration of temporal orientation in future research on BRCA testing decisions among women of African descent and this constructs importance in developing decision aids and tailoring genetic counseling.