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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   

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Life insurance industry access to genetic information is controversial. Consumer groups argue that access will increase discrimination in life insurance premiums and discourage individuals from undergoing genetic testing that may provide health benefits. Conversely, life insurers argue that without access to risk information available to individuals, they face substantial financial risk from adverse selection. Given this controversy, we conducted a retrospective cohort study to evaluate the impact of breast cancer risk information on life insurance purchasing, the impact of concerns about life insurance discrimination on use of BRCA1/2 testing, and the incidence of life insurance discrimination following participation in breast cancer risk assessment and BRCA1/2 testing. Study participants were 636 women who participated in genetic counseling and/or genetic testing at a University based clinic offering breast cancer risk assessment, genetic counseling, and BRCA1/2 testing between January 1995 and May 2000. Twenty-seven women (4%) had increased and six (1%) had decreased their life insurance since participation in breast cancer risk assessment. The decision to increase life insurance coverage was associated with predicted breast cancer risk (adjusted OR 1.03 for each 1% absolute increase in risk, 95% CI 1.01-1.10) and being found to carry a mutation in BRCA1/2 (OR 5.10, 95% CI 1.90-13.66). Concern about life insurance discrimination was inversely associated with the decision to undergo BRCA1/2 testing (RR 0.67, 95% CI 0.52-0.85). No respondent reported having life insurance denied or canceled. In this cohort of women, these results indicate that information about increased breast cancer risk is associated with increase in life insurance purchasing, raising the possibility of adverse selection. Although fear of insurance discrimination is associated with the decision not to undergo BRCA1/2 testing, there was no evidence of actual insurance discrimination from BRCA1/2 testing.  相似文献   

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PURPOSE: This study evaluated rates of BRCA1 and BRCA2 (BRCA1/2) test result acceptance among African American women and identified determinants of test result acceptance. METHODS: Acceptance of BRCA1/2 test results was evaluated among 157 African American women at high and moderate risk for having a BRCA1/2 mutation who were offered genetic testing as part of a clinical genetic counseling research program. RESULTS: Twenty-two percent of women received BRCA1/2 test results. Test result acceptance differed between women with > or =10% prior probability of having a BRCA1/2 mutation (34%) and those who had a 5% prior probability (8%). Among women with > or =10% prior probability, test result acceptors were most likely to be married (OR = 5.29, 95% CI = 1.82, 15.38, P = 0.002) and be less certain about their risk of developing cancer (OR = 3.18, 95% CI = 1.04, 9.80, P = 0.04). CONCLUSION: These results demonstrate that acceptance of BRCA1/2 test results may be limited among African American women. Being married and having less certainty about one's cancer risk may motivate acceptance of BRCA1/2 test results among African American women. It may be important to emphasize the possibility that BRCA1/2 test results may not clarify cancer risks during pre-test counseling with African American women to ensure informed decision-making about testing.  相似文献   

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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   

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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   

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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   

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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   

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Members of hereditary breast and ovarian cancer (HBOC) families often express concern during genetic counseling about the impact of BRCA1/2 testing on close relatives. Yet whether there are likely to be adverse effects of either the decision to undergo genetic testing or the results of testing on family relationships is unknown. One purpose of this study was to assess the impact on close family relationships. Within a randomized trial of breast cancer genetic counseling methods, members of 13 HBOC families were offered BRCA1/2 testing for a known family mutation. The Family Relationship Index (FRI) of the Family Environment Scale (FES) was used to measure perceived family cohesion, conflict, and expressiveness at baseline and again 6-9 months following the receipt of test results, or at the equivalent time for those who declined testing. Participants (n = 212) completed baseline and follow-up questionnaires. Comparisons were made between testers and non-testers as well as between those who tested positive and negative for the family mutation. One hundred eighty-one participants elected to undergo genetic testing (85%) and 47 (26%) were identified to have a mutation. After adjusting for baseline family relationship scores, counseling intervention, gender and marital status, non-testers reported a greater increase in expressiveness (P = 0.006) and cohesion (P = 0.04) than testers. Individuals who tested positive reported a decrease in expressiveness (P = 0.07), although as a trend. Regardless of test decision or test result, those who were randomized to a client-centered counseling intervention reported a decrease in conflict (P = 0.006). Overall, study results suggest that undergoing genetic testing and learning ones BRCA1/2 status may affect family relationships. Those individuals who declined testing reported feeling closer to family members and more encouraged to express emotions to other family members demonstrating potential benefit from the offer of testing. Since those who tested positive reported feeling less encouraged to express their emotions within the family, we recommend helping clients to identify others with whom they feel comfortable sharing their thoughts and feelings about their positive gene status and increased cancer risk.  相似文献   

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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   

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《Genetics in medicine》2011,13(4):325-332
PurposeDirect-to-consumer genetic testing is a new means of obtaining genetic testing outside of a traditional clinical setting. This study assesses genetic counselors' experience, knowledge, and beliefs regarding direct-to-consumer genetic testing for tests that would currently be offered in genetics clinics.MethodsMembers of the National Society of Genetic Counselors completed a web-administered survey in February 2008.ResultsResponse rate was 36%; the final data analysis included 312 respondents. Eighty-three percent of respondents had two or fewer inquiries about direct-to-consumer genetic testing, and 14% had received requests for test interpretation or discussion. Respondents believed that genetic counselors have a professional obligation to be knowledgeable about direct-to-consumer genetic testing (55%) and interpret results (48%). Fifty-one percent of respondents thought genetic testing should be limited to a clinical setting; 56% agreed direct-to-consumer genetic testing is acceptable if genetic counseling is provided. More than 70% of respondents would definitely or possibly consider direct-to-consumer testing for patients who (1) have concerns about genetic discrimination, (2) want anonymous testing, or (3) have geographic constraints.ConclusionResults indicate that genetic counselors have limited patient experiences with direct-to-consumer genetic testing and are cautiously considering if and under what circumstances this approach should be used. Genet Med 2011:13(4):325–332.  相似文献   

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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   

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It remains uncertain whether members of hereditary breast and ovarian cancer (HBOC) families experience psychological distress with genetic testing and whether pre-test counseling can have a moderating effect on client well-being. One purpose of this study was to assess change in psychological well-being from baseline to 6-9 months follow-up and the effect of a problem-solving training (PST) intervention on psychological well-being. Two hundred and twelve members of 13 HBOC families were offered BRCA1/2 testing for a previously identified family mutation. Participants received education and were randomized to one of two counseling interventions; PST or client-centered counseling. Psychological well-being was assessed at baseline and again at 6-9 months following the receipt of test results, or at the equivalent time for those participants who chose not to undergo testing. Well-being was assessed using measures of depressive symptoms (CESD), intrusive thoughts (IES), cancer worries, and self-esteem. Comparisons were made between those who chose testing and those who did not as well as between those who received positive and negative test results. One hundred eighty one participants elected to undergo genetic testing (85%) and 47 of these (26%) were identified as BRCA1/2 mutation carriers. Breast and ovarian cancer worries decreased significantly (p = 0.007 and 0.008, respectively) in those who tested negative while there was no appreciable change in psychological well-being from baseline to follow-up in either those who tested positive or in non-testers. Among all participants, particularly testers, those randomized to PST had a greater reduction in depressive symptoms than those randomized to client-centered counseling (p < 0.05 and p = 0.02, respectively). Regardless of the decision to test, individuals with a personal history of cancer (n = 22) were more likely to have an increase in breast cancer worries compared to those who had never been diagnosed with cancer (p < 0.001). Results suggest that a problem-solving counseling intervention may help to enhance psychological well-being following testing and that a personal history of cancer may increase psychological distress associated with genetic testing.  相似文献   

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《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   

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Genetic testing for an inherited susceptibility to cancer is an emerging technology in medical practice. Little information is currently available about physicians' attitudes toward these tests. To assess US physicians' opinions on unresolved issues surrounding genetic testing, a 15-min survey was administered to a stratified random sample of 1,251 physicians from 8 specialties, selected from a file of all licensed physicians in the US (response rate = 71.0%). Dependent measures included physicians' attitudes toward genetic counseling and testing qualifications, availability of guidelines, patient confidentiality and insurance discrimination issues, and clinical utility of genetic tests. More than 89% of physicians reported a need for physician guidelines, 81% thought that patients with positive genetic test results are at risk for insurance discrimination, and more than 53% thought that it was difficult to ensure the confidentiality of test results. Almost 25% indicated that genetic tests for cancer susceptibility have too many inaccurate or ambiguous results; nearly 75% thought that clear guidelines are not available for managing patients with positive test results. Only 29% of physicians reported feeling qualified to provide genetic counseling to their patients. More than 84% of oncologists considered themselves qualified to recommend genetic testing to their patients compared with 40% of primary care physicians (PCPs), and 57% of tertiary care physicians (TCPs). US physicians expressed great uncertainty about issues surrounding genetic testing for cancer susceptibility. Results of this national survey underscore the need to provide physicians with clear guidelines on the use of genetic cancer susceptibility tests and effective medical training on their appropriate implementation.  相似文献   

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《Genetics in medicine》2011,13(2):148-154
PurposeSequence-based cancer susceptibility testing results are described as negative, deleterious mutation or variant of uncertain significance. We studied the impact of different types of test results on clinical decision making.MethodsPracticing physicians from five specialties in Texas completed an online case-based survey (n = 225). Respondents were asked to make genetic testing and management recommendations for healthy at-risk relatives of patients with cancer.ResultsWhen the patient carried a deleterious BRCA1 mutation or variant of uncertain significance, 98% and 82% of physicians, respectively, recommended testing of at-risk relatives (P < 0.0001). In both situations, comprehensive BRCA1/2 analysis was selected most with a corresponding 9-fold increase in unnecessary genetic testing costs. There was no difference in physicians with (n = 81) or without (n = 144) prior BRCA1/2 testing experience (P = 0.3869). Cancer risk management recommendations were most intense for the relative with a deleterious mutation compared with variant of uncertain significance, negative, or no testing with 63%, 13%, 5%, and 2%, respectively, recommending oophorectomy (P < 0.0001).ConclusionIndependent of experience, or specialty, physicians chose more comprehensive testing for healthy relatives than current guidelines recommend. In contrast, management decisions demonstrated the uncertainty associated with a variant of uncertain significance. Utilization of genetic professionals and education of physicians on family-centered genetic testing may improve efficacy and substantially reduce costs. Genet Med 2011:13(2):148–154.  相似文献   

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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   

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The objectives of this observational study were to describe the associations between cultural beliefs and values and participation in genetic risk assessment and testing among African American women at high risk for having a BRCA1 or BRCA2 (BRCA1/2) gene alteration. Subjects were 28 high-risk women who self-referred to a genetic counseling and testing research program. Overall, 61% subjects received BRCA1/2 test results and 39% declined. Mean levels of fatalistic beliefs about cancer and future temporal orientation were higher among test acceptors relative to decliners. Sociodemographic factors were not associated with test acceptance; however, rates of test acceptance were lower among women with greater perceptions of familial interdependence (41% versus 91%, P=0.02). The results of this study suggest that cultural beliefs and values may influence genetic testing decisions among African American women.  相似文献   

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This study investigated uncertainty in individuals undergoing genetic counseling/testing for breast/ovarian cancer susceptibility. Sixty-three individuals from a single kindred with a known BRCA1 mutation rated uncertainty about 12 items on a five-point Likert scale before and 1 month after genetic counseling/testing. Factor analysis identified a five-item total uncertainty scale that was sensitive to changes before and after testing. The items in the scale were related to uncertainty about obtaining health care, positive changes after testing, and coping well with results. The majority of participants (76%) rated reducing uncertainty as an important reason for genetic testing. The importance of reducing uncertainty was stable across time and unrelated to anxiety or demographics. Yet, at baseline, total uncertainty was low and decreased after genetic counseling/testing (P = 0.004). Analysis of individual items showed that after genetic counseling/testing, there was less uncertainty about the participant detecting cancer early (P = 0.005) and coping well with their result (P < 0.001). Our findings support the importance to clients of genetic counseling/testing as a means of reducing uncertainty. Testing may help clients to reduce the uncertainty about items they can control, and it may be important to differentiate the sources of uncertainty that are more or less controllable. Genetic counselors can help clients by providing anticipatory guidance about the role of uncertainty in genetic testing.  相似文献   

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