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1.
OBJECTIVE: The objective of this study was to evaluate satisfaction with genetic counseling for BRCA1 and BRCA2 (BRCA1/2) mutations among African American women. METHODS: Participants were 54 African American women at moderate and high risk for BRCA1/2 mutations who were offered genetic testing as part of a randomized clinical trial designed to compare the effects of culturally tailored genetic counseling (CTGC) and standard genetic counseling (SGC). Satisfaction with genetic counseling was evaluated using a self-administered questionnaire following culturally tailored or standard pre-test education and counseling. RESULTS: Overall, the majority of women (96%) were very satisfied with genetic counseling; however, only 26% reported that their worries were lessened and 22% reported that they were able to cope better. Women who received CTGC were significantly more likely than women who received SGC to report that their worries were lessened (p<0.05). In addition, women with household incomes less than US$ 35,000 were significantly more likely to report that the counselor lessened their worries compared to women with higher incomes (p<0.05). CONCLUSIONS: Most African American women were satisfied with genetic counseling; however, women who received culturally tailored genetic counseling were significantly more likely to strongly agree that their worries were lessened compared to women who received standard genetic counseling. PRACTICE IMPLICATIONS: Discussion of cultural beliefs and values during genetic counseling may be beneficial to African American women, especially those with low incomes.  相似文献   

2.
Women with a family history of breast cancer often over-estimate their personal risk for cancer and may view themselves as candidates for genetic testing even when the likelihood of an informative test result is low. We report here on genetic counseling of women with an intermediate family history of breast cancer, defined as women who have one or more biological relatives with breast cancer but whose pedigree suggests a low likelihood of autosomal dominant transmission. A genetic counseling protocol based on traditional genetic counseling strategies was developed with additional components added to address the needs of women with moderately increased breast cancer risk. These additional components included information about non-genetic risk factors, comparisons of high and moderate risk pedigrees, and evaluation of personal risk based on both genetic and nongenetic risk factors. Most participants liked the genetic counseling and found it useful. At baseline, participants over-estimated both their personal risk of breast cancer and that of the average woman. After counseling, estimates of personal and average risk of breast cancer were lower, although both remained higher than actual risk. Most participants reported that they felt less worried about breast cancer after receiving their personal-risk estimate. At baseline, most women judged themselves to be candidates for genetic testing and expressed interest in testing. The number who considered themselves candidates for testing was reduced after counseling (60% versus 82%) but still constituted a majority. Similarly, interest in testing was partially reduced by counseling (60% versus 91%). We conclude that genetic counseling can help women with an intermediate family history of breast cancer to develop more accurate views of their risk, reduce their breast cancer worry, and aid some of them in developing a more realistic view of genetic testing.  相似文献   

3.
This study examined the demand for breast cancer genetic testing and counseling among Canadian women diagnosed with breast cancer under the age of 50, together with some of the factors predicting both their intentions to be tested and the degree to which they act on their intentions. Participants were 110 women under the age of 50 and comprised of two groups: 1) women diagnosed with breast cancer (BC, n = 60): and 2) an index group of unaffected women from the general population (GP, n = 50). All participants completed a survey that addressed family history of breast and other cancers, demographic variables, knowledge and attitudes about breast cancer, and genetic testing. Members of the BC group were offered genetic counseling and testing for BRCA1 and BRCA2 free of charge. Overall, 60% of participants indicated they would like the test, and 40% either did not want it or were uncertain. Seventy-two percent of women in the BC group wanted to be tested. Of these, only 49% had actually contacted the genetic counselor about testing at follow-up 3-15 months later. Intention to be tested was associated with presence of breast cancer, greater perceived benefits of testing, fewer perceived 'costs' of testing, and higher levels of concern about the risk of relatives developing breast cancer. Actual arranging to meet with the genetic counselor among women in the BC group was associated with fewer perceived costs of having the test. Results suggest a moderate level of interest in gene testing, though intention to be tested may not translate into actual uptake. Women who do choose to have the test may believe the potential 'costs' of using this new genetic technology to be relatively few. This has implications for genetic counselors in terms of providing balanced and complete information to women considering genetic testing for breast cancer susceptibility.  相似文献   

4.
The medical community and general population have become aware that genetic testing is available to look for BRCA1 and BRCA2 mutations. However, criteria for who should be referred for genetic counseling and possible subsequent testing have yet to be determined, and many genetics centers have been overwhelmed by the demand for service. We set out to develop a family history assessment tool (FHAT) that could be used by physicians to select individuals for genetic counseling. Arbitrarily, we chose individuals who would have an approximate doubling of their lifetime risk for breast or ovarian cancer. The FHAT was then applied to 184 unrelated families, with an index patient who had breast or ovarian cancer and who had accepted the offer of BRCA1 BRCA2 testing. Data were compiled to compare the number of individuals who would have been referred for genetic counseling and the number of mutation-positive individuals who would have been screened out from counseling using FHAT, the tables from Claus, and the BRCAPRO system. In this population, FHAT was effective in minimizing both the number of referrals and the likelihood of missing women who were later found to be mutation-positive.  相似文献   

5.
PURPOSE: Patients seeking genetic testing for inherited breast cancer risk are typically educated by genetic counselors; however, the growing demand for cancer genetic testing will likely exceed the availability of counselors trained in this area. We compared the effectiveness of counseling alone versus counseling preceded by use of a computer-based decision aid among women referred to genetic counseling for a family or personal history of breast cancer. METHODS: We developed and evaluated an interactive computer program that educates women about breast cancer, heredity, and genetic testing. Between May 2000 and September 2002, women at six study sites were randomized into either: Counselor Group (n = 105), who received standard genetic counseling, or Computer Group (n = 106), who used the interactive computer program before counseling. Clients and counselors both evaluated the effectiveness of counseling sessions, and counselors completed additional measures for the Computer Group. Counselors also recorded the duration of each session. RESULTS: Baseline characteristics did not differ significantly between groups. Participants and counselors both rated the counseling sessions as highly effective, whether or not the sessions were preceded by computer use. Computer use resulted in significantly shorter counseling sessions among women at low risk for carrying BRCA1/2 mutations. In approximately half of the sessions preceded by clients' computer use, counselors indicated that clients' use of the computer program affected the way they used the time, shifting the focus away from basic education toward personal risk and decision-making. CONCLUSION: This study shows that the interactive computer program "Breast Cancer Risk and Genetic Testing" is a valuable adjunct to genetic counseling. Its use before counseling can shorten counseling sessions and allow counselors to focus more on the clients' individual risks and specific psychological concerns. As the demand for counseling services increases, a program such as this can play a valuable role in enhancing counseling efficiency.  相似文献   

6.
7.
As genetic testing for susceptibility to breast cancer becomes more widespread, alternative methods for educating individuals prior to testing will be needed. Our objective was to compare face-to-face education and counseling by a genetic counselor with education by an interactive computer program, assessing the effects of each on knowledge of breast cancer genetics and intent to undergo genetic testing. We used a randomized, controlled trial. Seventy-two self-referred women with a first-degree relative with breast cancer received outpatient education and counseling at the Clinical Center of the National Institutes of Health (NIH). Twenty-nine received individualized counseling from a genetic counselor (counseling group), 29 received education from an interactive computer program followed by individualized counseling (computer group), and 14 were controls. Both pre- and postintervention assessment of knowledge about breast cancer genetics and intent to undergo genetic testing were measured. The control group participants correctly answered 74% of the knowledge questions; the counselor group, 92%; and the computer group, 96% (P <.0001). Unadjusted mean knowledge scores were significantly higher in the computer group than the counselor group (P =.048), but they were equivalent when adjusted for demographic differences (P = 0.34). Intent to undergo genetic testing was influenced by the interventions: preintervention, a majority in all groups (69%) indicated that they were likely (definitely and most likely) to undergo testing; after either intervention coupled with counseling, only 44% indicated that they were likely to do so (P =.0002; odds ratio = 2.8, 95% CI = 1.7-4.9). We concluded that a computer program can successfully educate patients about breast cancer susceptibility, and, along with genetic counseling, can influence patients' intentions to undergo genetic testing.  相似文献   

8.
《Genetics in medicine》2015,17(1):43-50
BackgroundEvidence shows underutilization of cancer genetics services. To explore the reasons behind this underutilization, this study evaluated characteristics of women who were referred for genetic counseling and/or had undergone BRCA1/2 testing.MethodsAn ovarian cancer risk perception study stratified 16,720 eligible women from the Henry Ford Health System into average-, elevated-, and high-risk groups based on family history. We randomly selected 3,307 subjects and interviewed 2,524 of them (76.3% response rate).ResultsAmong the average-, elevated-, and high-risk groups, 2.3, 10.1, and 20.2%, respectively, reported genetic counseling referrals, and 0.8, 3.3, and 9.5%, respectively, reported having undergone BRCA testing. Personal breast cancer history, high risk, and perceived ovarian cancer risk were associated with both referral and testing. Discussion of family history with a doctor predicted counseling referral, whereas belief that family history influenced risk was the strongest BRCA testing predictor. Women perceiving their cancer risk as much higher than other women their age were twice as likely (95% confidence interval: 2.0–9.6) to report genetic counseling referral.ConclusionIn a health system with ready access to cancer genetic counseling and BRCA testing, women who were at high risk underutilized these services. There were strong associations between perceived ovarian cancer risk and genetic counseling referral, and between a belief that family history influenced risk and BRCA testing.Genet Med advance online publication 19 June 2014  相似文献   

9.
《Genetics in medicine》2016,18(4):410-412
PurposeGenetic risk assessment and counseling by a qualified genetics professional are recommended to ensure high-quality care for individuals at risk of hereditary cancer. Timely access to genetic services provided by a genetic counselor (GC) is essential, especially in cases where genetic testing results may affect impending surgical decisions.MethodsA survey of GCs who specialize in cancer genetics was performed to assess service delivery models and ability to accommodate urgent cases.ResultsOver half of all respondents indicated that urgent patients can be seen for consultation the same day or within 1–2 business days, and almost all respondents indicated that urgent cases can be seen within 1 week. Most respondents indicated that urgent cases are seen by a GC only with no physician involved.ConclusionsThe results of this survey of GCs demonstrate that timely access to cancer genetic counseling by GCs in an urgent setting is available.  相似文献   

10.
OBJECTIVE: Women of all risk levels have reported high interest in obtaining genetic testing for breast cancer risk. Breast cancer risk counseling may help women to learn about their risk and appropriate options of testing. This study measured the effects of an intervention in-person and by telephone, compared to a control group. METHODS: Participants were 340 women, recruited through a network of primary care physicians. They received a baseline questionnaire in the mail, were randomized to one of the three study arms, and completed a follow-up survey 3 months later. RESULTS: Both types of counseling were very well received. The counseling decreased women's cancer worry, risk perceptions, and intentions to pursue genetic testing. There were similar effects for both in-person and telephone counseling. CONCLUSION: Genetic counseling can be used to inform women at all risk levels about their breast cancer risk. PRACTICE IMPLICATIONS: Breast cancer risk counseling can be done in-person and by telephone--thereby reaching women in remote areas.  相似文献   

11.
PURPOSE: To evaluate attitudes about the benefits, limitations, and risks of genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations and explore testing intentions in African American women at increased risk for hereditary breast cancer. METHODS: Attitudes and intentions were evaluated by telephone in African American women (n = 74) at moderate and high risk for having a BRCA1/2 mutation. RESULTS: Attitudes about the benefits of genetic testing were endorsed at a higher rate relative to limitations and risks; however, only 30% of respondents indicated that they would definitely have testing. In regression analysis, women most likely to be considering testing were those with fatalistic beliefs about cancer and those who believed they had a BRCA1/2 mutation. Women who had two or more affected relatives were also most likely to be considering testing. Women who had a personal history of cancer and those who believed they were at high risk for developing breast cancer were most likely to report greater limitations and risks. Pros scores were higher among women older than age 50 and those who were unemployed. CONCLUSION: Although African American women at moderate and high risk for BRCA1/2 mutations report favorable attitudes about genetic testing, interest in testing may be limited. Women affected with cancer and those who believe they are at a higher risk for developing breast cancer may be most concerned about the negative consequences of testing. Increased attention may need to be given to beliefs about genetic testing and testing motivations during genetic counseling with African American women.  相似文献   

12.

Objective

To determine the prevalence of fathers’ attendance at pretest cancer genetic counseling sessions with mothers undergoing BRCA1/2 genetic testing for hereditary breast/ovarian cancer (HBOC) risk, and to identify psychosocial and other correlates of fathers’ attendance.

Methods

One hundred and twenty-one fathers of minor-age children who were spouses/partners of women (mothers) undergoing such counseling and testing were recruited, completed a behavioral self-report survey, and provided data about their sociodemographic backgrounds, father–child cancer communication histories, parenting relationship quality, and information-seeking and perceived knowledge.

Results

A total of 27.3% of fathers attended pretest cancer genetic counseling with mothers. Compared to fathers who did not attend pretest cancer genetic counseling, those who did had stronger parenting alliances with mothers, were more likely to have sought out information about BRCA1/2 testing, and felt more informed about testing. In an adjusted logistic regression model of session attendance, the strength of the parenting alliance was associated with a 6% increase in the likelihood of attending genetic counseling (odds ratio [OR] = 1.06, 95% confidence interval [CI] = 1.01, 1.12, p < .05) and greater perceived knowledge about BRCA1/2 testing was associated with a four-fold increase in the likelihood of session attendance (OR = 4.03, CI = 1.77, 9.37, p < .001).

Conclusion

One in three fathers attend pretest cancer genetic counseling with mothers undergoing BRCA1/2 testing; those who do have closer parenting relationships and are more informed about BRCA1/2 testing.

Practice implications

When possible, providers should discuss mothers including fathers in cancer genetic counseling sessions as this may affect outcomes of HBOC genetic counseling and testing.  相似文献   

13.
Clinical evidence supports the value of BRCA1/2 genetic counseling and testing for managing hereditary breast and ovarian cancer risk; however, BRCA1/2 genetic counseling and testing are underutilized among black women, and reasons for low use remain elusive. We examined the potential influence of sociocultural factors (medical mistrust, concerns about genetic discrimination) on genetic counseling and testing engagement in a sample of 100 black women at increased risk for carrying a BRCA1/2 mutation. Eligible participants fell into 1 of 3 groups: (1) healthy women with at least 1 first-degree relative affected by breast and/or ovarian cancer, (2) women diagnosed with breast cancer at age less than or equal to 50 years, and (3) women diagnosed with breast and/or ovarian cancer at age greater than or equal to 50 years with either 1 first-degree relative or 2 second-degree relatives with breast and/or ovarian cancer. Participants were recruited from clinical and community settings and completed a semistructured interview. Study variable relationships were examined using bivariate tests and multivariate regression analysis. As expected, genetic counseling and testing engagement among this sample was low (28%). After accounting for sociodemographic factors and self-efficacy (β = 0.37, p < .001), women with higher medical mistrust had lower genetic counseling and testing engagement (β = -0.26, p < .01). Community-level and individual interventions are needed to improve utilization of genetic counseling and testing among underserved women. Along with trust building between patients and providers, strategies should enhance women’s personal confidence. The impact of medical mistrust on the realization of the benefits of personalized medicine in minority populations should be further examined in future studies.  相似文献   

14.
Although BRCA1/2 testing has increasingly entered clinical practice, much is to be learned about the most effective ways to provide counseling to persons potentially interested in receiving test results. The purpose of this study was to identify factors affecting genetic testing decisions in a cohort of hereditary breast and ovarian cancer (HBOC) families presented with the choice to undergo testing. Relatives in these families are known to carry BRCA1 or BRCA2 mutations. Sociodemographics, personality traits, and family functioning were self-assessed using validated psychometric instruments at baseline. Among 172 individuals who participated in pretest education and counseling, 135 (78%) chose to undergo genetic testing and 37 (22%) chose not to be tested. Individuals who chose to undergo genetic testing were more likely to be older (> or =40 years), to have lower levels of optimism, and to report higher levels of cohesiveness in their families. A better understanding of factors that influence interest in predictive testing may help to inform the counseling that occurs prior to genetic testing.  相似文献   

15.
When BRCA1/2 testing became commercially available in 1996, many U.S. experts voiced concern about the potential for indiscriminate use of testing among low-risk women. Supporting this concern, several early surveys of interest in genetic testing suggested that genetic testing for cancer susceptibility might appeal most to individuals at low risk of carrying a mutation. To identify factors associated with early use of clinical BRCA1/2 testing, a case-control study was conducted at a large academic health system in the metropolitan Philadelphia region. A total of 167 women underwent genetic counseling for clinical BRCA1/2 testing between 1996 and 1997 (cases) compared with 138 women who were seen in faculty general internal medicine practices over the same period (controls). In this study we measured the risk factors for breast cancer, the risk factors for carrying a BRCA1/2 mutation, and sociodemographic characteristics. Use of BRCA1/2 counseling between 1996 and 1997 was positively associated with family but no personal history of breast cancer (odds ratio (OR), 22.4; 95% confidence interval (CI), 9.3-54.3); family and personal history of breast cancer (OR, 150.3; 95% CI, 24.1-939.6); being Caucasian and non-Jewish (OR, 4.1; 95% CI, 1.3-13.5); being Caucasian and Jewish (OR, 8.8; 95% CI, 2.2-35.5); and being married (OR, 3.2; 95% CI, 1.6-6.3). Use of BRCA1/2 counseling was inversely associated with increasing age (OR, 0.07; 95% CI, 0.02-0.28 for >60 compared to <50). As suggested by the association with family history, use of counseling was associated with having a higher predicted risk of breast cancer and a higher predicted risk of carrying a BRCA1 mutation (P < 0.0001). Women who sought clinical BRCA1/2 testing in the year after it became commercially available were not the "worried well," but women at significantly increased risk of carrying a mutation. However, even after adjusting for breast cancer risk, there was a substantial racial disparity in use of BRCA1/2 testing. These findings suggest that ensuring equal access to testing for high-risk individuals irrespective of race may be as important for the future of predictive genetic testing as restricting the use of testing among low-risk individuals.  相似文献   

16.
The recent cloning of a breast-ovarian cancer susceptibility gene (BRCA1), and determination of the locus of a related gene (BRCA2), offers potential for clinical genetic testing for breast cancer susceptibility. This study examined interest in and expectations about an impending genetic test among first-degree relatives (FDRs) of breast cancer patients. One hundred five females completed two structured telephone interviews to assess demographics, breast cancer risk factors, psychological factors, and attitudes about genetic testing for breast cancer susceptibility. Overall, 91% of FDRs said that they would want to be tested, 4% said they would not, and 5% were uncertain. The most commonly cited reasons for wanting genetic testing were to learn about one's children's risk, to increase use of cancer screening tests, and to take better care of oneself. Women with less formal education were motivated by childbearing decisions and future planning to a greater degree than were women with education beyond high school. Most women anticipated a negative psychological impact of positive test results, involving increased anxiety (83%), depression (80%), and impaired quality of life (46%). In addition, 72% of women indicated that they would still worry if they tested negative. In multivariate regression analysis, level of baseline depression was the strongest predictor of an anticipated negative impact of genetic testing (Beta =.15; P,.0001). These results suggest that the demand for genetic testing for breast cancer susceptibility may be great, even among women who are not likely to have predisposing mutations. Prior to widespread availability of such testing, it will be critical to develop informed consent protocols to educate individuals about the benefits and limitations of predictive testing for this multifactorial disease. © 1995 Wiley-Liss, Inc.  相似文献   

17.
《Genetics in medicine》2016,18(1):25-33
PurposeThe risks, benefits, and utilities of multiplex panels for breast cancer susceptibility are unknown, and new counseling and informed consent models are needed. We sought to obtain patient feedback and early outcome data with a novel tiered-binned model for multiplex testing.MethodsBRCA1/2-negative and untested patients completed pre- and posttest counseling and surveys evaluating testing experiences and cognitive and affective responses to multiplex testing.ResultsOf 73 patients, 49 (67%) completed pretest counseling. BRCA1/2-negative patients were more likely to proceed with multiplex testing (86%) than those untested for BRCA1/2 (43%; P < 0.01). Many patients declining testing reported concern for uncertainty and distress. Most patients would not change anything about their pre- (76%) or posttest (89%) counseling sessions. Thirty-three patients (72%) were classified as making an informed choice, including 81% of those who proceeded with multiplex testing. Knowledge increased significantly. Anxiety, depression, uncertainty, and cancer worry did not significantly increase with multiplex testing.ConclusionSome patients, particularly those without prior BRCA1/2 testing, decline multiplex testing. Most patients who proceeded with testing did not experience negative psychological responses, but larger studies are needed. The tiered-binned approach is an innovative genetic counseling and informed consent model for further study in the era of multiplex testing.  相似文献   

18.
Genetic counseling for individuals at high risk for developing breast and ovarian cancer (oncogenetic counseling) involves evaluation of cancer risk, psychological assessment, and genetic testing for germline mutations in BRCA1/BRCA2 genes. The long-term psychosocial impact of oncogenetic counseling on consultees and the retention of oncogenetic information are uncertain. We retrospectively interviewed 155 women who underwent oncogenetic counseling in a single medical center in Israel in 1996 (N = 50) and 1998 (N = 105). There were 29 (18.7%) BRCA1/BRCA2 mutation carriers and 126 non-carriers; 58 (37.4%) had a past or present history of cancer, and 97 (62.6%) were first-degree relatives within breast/ovarian cancer families. A questionnaire evaluating self-reported distress and anxiety symptoms before and after counseling, as well as the retention of relevant information (e.g., individual and offspring cancer risk, early detection schemes), one and three years after the initial consultation was administered. Overall, oncogenetic counseling had a minimal effect on anxiety-related symptoms. Mutation carriers reported anxiety-associated symptoms, such as sleeplessness and "bad mood", more frequently than non-carriers following oncogenetic counseling. As expected, 61.8% of carriers and only 30% of non-carriers accurately remembered the personal and offspring cancer risk and preventive and early detection schemes. We conclude that although there seemed to be slight worsening of anxiety-related symptoms following oncogenetic counseling in BRCA1/BRCA2 mutation carriers, these symptoms were minimal and did not affect everyday life activities. In addition, there is an ongoing need to emphasize oncogenetic information to high-risk individuals.  相似文献   

19.
The prevalence of BRCA1 and BRCA2 mutations among unselected breast cancer patients in the Bahamas is 23%. It is beneficial to advise relatives of mutation carriers that they are candidates for genetic testing. Women who test positive are then eligible for preventive interventions, such as oophorectomy. It is not clear how often relatives of women with a mutation in the Bahamas wish to undergo genetic testing for the family mutation. Furthermore, it is not clear how best to communicate this sensitive information to relatives in order to maximize patient compliance. We offered genetic testing to 202 first‐degree relatives of 58 mutation carriers. Of 159 women who were contacted by the proband or other family member, only 14 made an appointment for genetic testing (9%). In contrast, among 32 relatives who were contacted directly by the genetic counselor, 27 came for an appointment (84%). This study suggests that for recruitment of relatives in the Bahamas, direct contact by counselor is preferable to using the proband as an intermediary.  相似文献   

20.
Helping people cope with health risks is an important area for research and practice. Counseling offers people the opportunity to relieve their distress and improve the ways in which they manage their health issues. This study was a randomized test of two different counseling methods, genetic and psychosocial counseling, compared to a control group. Eligibility requirements included being between 18 and 74 years old, having at least one relative with breast cancer, not having a family history consistent with carrying a BRCA1/2 mutation for breast cancer risk, having no personal history of breast or ovarian cancer, living within 60 miles of the research institute, and willingness to complete the research requirements of the project. Perceived risk decreased by 50% for participants in the two counseling groups relative to comparison participants. Cancer worry decreased in both counseling groups by one scale point (P < 0.05). These results indicate that counseling can relieve women's negative reactions to breast cancer risk.  相似文献   

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