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1.
Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8 %), followed by Breast/Ovarian Cancer (15.0 %). In the past 6 months, 65 % had counseled patients on genetic issues, 44 % had ordered genetic tests, 38.5 % had referred patients to a genetic counselor or geneticist, and 27.5 % had received ads from commercial labs for genetic testing. Only 4.5 % had tried to hide or disguise genetic information, and <2 % have had patients report genetic discrimination. Only 53.4 % knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7 %) and guidelines for genetic testing (87.1 %). Most felt needs for more training on when to order tests (79 %), and how to counsel patients (82 %), interpret results (77.3 %), and maintain privacy (80.6 %). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (p?<?.001), and if physicians had a geneticist/genetic counselor to whom to refer patients (p?<?.002), had referred patients to a geneticist/genetic counselor in the past 6 months, had more comfort counseling patients about testing (p?<?.019), counseled patients about genetics, larger practices (p?<?.032), fewer African-American patients (p?<?.027), and patients who had reported genetic discrimination (p?<?.044). In a multiple logistic regression, ordering a genetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests. These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education.  相似文献   

2.
Genetic counselors experience high rates of compassion fatigue and an elevated risk for burnout, both of which can negatively impact patient care and retention in the profession. In other healthcare professions, mindfulness training has been successfully used to address similar negative psychological sequelae and to bolster empathy, which is the foundation of our counseling work. We aimed to assess associations between mindfulness and key professional variables, including burnout, compassion fatigue, work engagement, and empathy. Data were collected via an anonymous, online survey that included validated measures of mindfulness and these key professional variables. The survey was completed by 441 genetic counselors involved in direct patient care. Half of the respondents (50.1%) reported engaging in yoga, meditation, and/or breathing exercises. Mindfulness was positively correlated with work engagement (r?=?0.24, p?<?0.001) and empathy (as measured through four subscales: perspective taking (r?=?0.15, p?=?0.002), empathic concern (r?=?0.11, p?=?0.03), fantasy (r?=???0.11, p?=?0.03) and personal distress (r?=???0.15, p?=?0.001)). Mindfulness was negatively correlated with compassion fatigue (r?=???0.48, p?<?0.001) and burnout (r?=???0.50, p?<?0.001). Given these findings, mindfulness training may be a valuable addition to graduate and continuing education for genetic counselors. The integration of mindfulness into the genetic counseling field will likely improve professional morale and well-being, while promoting workforce retention and bolstering the relational and counseling aspects of our clinical work.  相似文献   

3.
Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women’s perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N?=?272; UC, N?=?282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR?=?4.78, 95 % CI?=?3.32, 6.89) while also perceiving lower levels of support (OR?=?0.56, 95 % CI?=?0.40–0.80) and emotional recognition (OR?=?0.53, 95 % CI?=?0.37–0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4 % vs. 52.8 %; OR?=?3.06, 95 % CI?=?1.39–6.74), while minority women perceived less support in UC vs. TC (58.3 % vs. 38.7 %; OR?=?0.80, 95 % CI?=?0.39–1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.  相似文献   

4.
Multiple sclerosis (MS) affects up to 1/500 Canadians. The University of British Columbia MS Clinic (UBC Clinic) is the only MS clinic in Canada (and likely internationally) that routinely offers genetic counseling to patients and their families. A typical session includes the collection of family history and demographic data, discussion of the inheritance of MS, interpretation of family-specific recurrence risks and psychosocial counseling. The aims of this study were to explore patients’: 1) expectations of the genetic counseling session; 2) understanding of the etiology of MS (both pre and post-session); and 3) post-session perceptions of genetic counseling. A two-part questionnaire to assess genetic counseling services was distributed before and after sessions to all consenting patients seen during the period October 1, 2008 to February 28, 2009 inclusive. Sixty-two completed questionnaires were analysed. Genetic counseling was found to significantly increase the number of individuals who were able to correctly identify the etiology of MS (p?<?0.001). Patient satisfaction with genetic counseling was high, with an average satisfaction score of 32.4/35 (92.6 %). Of those who provided comments (n?=?42/60) regarding the usefulness of the genetic counseling session, 95.2 % reported it useful (n?=?40/42). Findings suggest that genetic counseling is effective in increasing patients’ knowledge of the etiology of MS and is viewed by patients as a useful service. Based on the high level of positive feedback regarding genetic counseling by the study sample, this study suggests that the services provided by genetic counselors may be beneficial for patients with MS seen in other centers.  相似文献   

5.
CancerGene Connect (CGC) is a web-based program that combines the collection of family and medical history, cancer risk assessment, psychosocial assessment, report templates, a result tracking system, and a patient follow up system. The performance of CGC was assessed in several ways: pre-appointment completion data analyzed for demographic and health variables; a time study to assess overall time per case and to compare the data entry by the genetic counselor compared to the patient, and a measured quality assessment of the program via observation and interview of patients. Prior to their appointment, 52.3 % of 2,414 patients completed the online patient questionnaire section of CGC. There were significant differences in completion rates among racial and ethnic groups. County hospital patients were less likely to complete the questionnaire than insured patients (p?p?CGC. CGC reduces genetic counselor time by approximately 14–46 % compared to average time per case using traditional risk assessment and documentation methods previously reported. All surveyed users felt the questionnaire was easy to understand. CGC is an effective tool that streamlines workflow, and provides a standardized data collection tool that can be used to evaluate and improve the genetic counseling process.  相似文献   

6.
This study examined associations between past interpersonal victimization (including both child and adult victimization) and sexual harassment (SH); and it examined intervening and moderating variables of the association of past victimization with SH, including posttraumatic stress symptoms (PTSS) and job-gender context. In addition, we examined an alternative hypothesis for revictimization that abuse survivors are hyper-sensitive to perceptions of sexual harassment. Employed women residing in Kentucky (U.S.) who had received an order of protection from a male partner and who were followed-up 12 months later (n?=?445, 78 % White, mean age?=?31.98, SD?=?8.60) were selected for this analysis. SH experienced between baseline and follow-up interviews was associated with baseline assessments of child nonsexual assault experiences (r?=?0.24, p?<?0.001) and intimate partner violence victimization (r?=?0.20, p?<?0.000), demonstrating a revictimization effect. PTSS mediated the relationship between child sexual assault, child nonsexual assault and subsequent SH. Further, working in a job with a male supervisor or in a male-dominated workgroup increased associations between child nonsexual abuse and subsequent SH. No support was found for the hyper-sensitivity hypothesis. Findings are consistent with prior research that identifies sexual harassment as a form of interpersonal violence that mental health and victim service providers and researchers should include in their assessment and treatment strategies. Employers should also understand that working in male-dominated work environments compound the risk of sexual harassment for those with prior abuse histories and should be vigilant to reducing these risks.  相似文献   

7.
Pregnant women undergoing prenatal genetic testing should receive genetic counseling so they can make informed decisions. We examined the current state of providing genetic counseling in Japan to pregnant women before they elected amniocentesis for prenatal diagnosis of chromosome abnormalities and after test results were completed, and explored the opportunity for expanding access to certified genetic counselors (CGC) at clinical practices offering amniocentesis. An anonymous survey was mailed to the 298 hospitals that referred amniotic fluid specimens to LabCorp Japan in 2009. Most genetic counseling was provided by the obstetrician alone; 73.8 % (76/103) of pre-amniocentesis, 82.5 % (85/103) if normal results, and 49.4 % (44/89) if abnormal results. Respondents spent limited time in genetic counseling; 57.3 % spent <10 min for pre-amniocentesis, 88.3 % spent <10 min for normal results, and 54.0 % spent <20 min for abnormal results. While 45.8 % indicated that CGC do not have an essential role in clinical practice, responses that supported employment of CGC were more likely to come from hospitals that submitted more than ten specimens annually (p?<?0.0001), university hospitals (p?<?0.0001), and MD geneticists (p?=?0.020). Currently, there is limited genetic counseling available in Japan. This indicates there are opportunities for the employment of CGC to improve the quality of genetic counseling.  相似文献   

8.
A comprehensive family history is essential to identify patients at risk for hereditary cancer who could benefit from genetic counseling (GC). In a previous study, we observed a low occurrence of family history record (FHR) collection rate and GC referral among oncologists at our institution. The present work analyzes whether the implementation of a heredofamilial cancer unit (HFCU) would improve these parameters. We retrospectively compared the FHR rate in clinical records, National Cancer Institute (NCI) general criteria for hereditary cancer suspicion, GC referrals and FHR quality in two cohorts: cohort 1 (patients diagnosed before HFCU creation) and cohort 2 (after HFCU creation). Of 1,175 patients (590 cohort 1 and 585 cohort 2), FHRs were consigned in 27.3 % and 52.5 % of patients, respectively (p?<?0.001). The GC referral of patients with any NCI criterion was 13.6 % xin cohort 1 vs. 40.5 % in cohort 2 (p?<?0.001). FHR quality improved in terms of the total number of relatives (164 vs. 314, p?=?0.1, N.S.) and number of healthy relatives consigned (80 vs. 191, p?<?0.01). Nine mutations (6 BRCA, 1 MEN1, 2 Lynch), 4 unknown significance variants (all in BRCA) and 2 with no mutation were identified among patients referred from cohort 2. We conclude that the creation of a heredofamilial cancer unit has changed both FHR and GC referrals among oncologists at our institution, although continuous educational efforts are required.  相似文献   

9.
People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people from mutation-carrying families decline genetic counselling and/or testing to identify mutation status. We studied the association of quantitative measures of risk perception, risk prediction and self-reported screening colonoscopy in this elusive yet high-risk group. The sample of 26 participants (mean age 43.1 years, 14 women) in the Australasian Colorectal Cancer Family Registry were relatives of mutation carriers; had not been diagnosed with any cancer at the time of recruitment and had declined an invitation to attend genetic counselling and/or testing. A structured elicitation protocol captured perceived CRC risk over the next 10 years. Self-reported colonoscopy screening was elicited during a 45-minute semi-structured interview. Predicted 10-year CRC risk based on age, gender, known mutation status and family history was calculated using “MMRpro.” Mean perceived 10-year risk of CRC was 31 % [95 % CI 21, 40], compared with mean predicted risk of 4 % [2, 7] (p?<?0.001); this was independent of age and sex (p?=?0.9). Among those reporting any medical advice and any screening colonoscopy (n?=?18), those with higher risk perception had less frequent colonoscopy (Pearson’s r?=?0.49 [0.02, 0.79]). People who decline genetic testing for CRC susceptibility mutations perceive themselves to be at substantially higher risk than they really are. Those with high perceived risk do not undertake screening colonoscopy more often than those who perceive themselves to be at average risk.  相似文献   

10.
Advances in genetics are changing cancer care and requiring institutions to maximize the unique skills of genetics professionals. The identification of genetic syndromes is vital for prevention and management of families with high cancer risks. Despite this, high risk individuals who qualify are often not referred. Genetic counselors could review oncology charts to improve identification. A genetics assessment tool developed by NCI Community Cancer Centers Program was used to perform self-assessment of the genetics program. A weekly report of all new oncology patients was provided to a genetic counselor for chart review. In 2010, 58 % of all eligible patients (n?=?152) were offered a genetics evaluation. In 2011 this improved to 70 % (n?=?167), which was a statistically significant difference, X 2(1)?=?5.13, p?=?0.02. By cancer site, ovarian cancer referrals also showed statistically significant improvement, X 2(1)?=?6.36, p?=?0.01. Breast and colon referrals were improved but not significant. Over 10 months, 129 patients were identified through the chart review program. Three were confirmed to have a genetic mutation for a hereditary cancer syndrome. An average week included review of 73 charts for 10 medical oncologists, 4 radiation oncologists, and 4 pediatric oncologists which generated 60–80 min of work for the genetic counselor. This program improved patient identification and quality, and allowed physicians to become more aware of opportunities for genetic counseling and more patients to receive genetic counseling and testing.  相似文献   

11.
There is little written about the quality of genetic counseling for men with the BRCA1/2 mutation. The purpose of this study was to describe the quality of genetic counseling and connected factors according to Finnish male BRCA1/2 mutation carriers’ (n?=?35) perspectives and reasons for seeking genetic counseling. Data were collected from the Departments of Clinical Genetics at five Finnish university hospitals. The exploratory study design was conducted using a 51-item questionnaire based on a previously devised quality of counseling model and analyzed using non-parametric tests and principle content analysis. The satisfaction level with genetic counseling was high, especially with regard to the content of genetic counseling. The benefit of genetic counseling on the quality of life differed significantly (p?<?0.001–0.009) from other factors. In particular, genetic counseling was in some cases associated to reduce the quality of life. Only 49 % of the male carriers felt they received sufficient counseling on social support. Attention to individual psychosocial support was proposed as an improvement to genetic counseling. Primary and secondary reasons for seeking genetic counseling and background information, such as education, affected the perceived quality of genetic counseling. The results of the study could be used to tailor genetic counseling for male BRCA1/2 mutation carriers.  相似文献   

12.
13.
We studied counselees’ expressed understanding of the risk estimate and surveillance recommendation in the final consultation for breast cancer genetic counseling in relation with their risk perception, worry and cancer surveillance adherence 1 year post-counseling. Consecutive counselees were included from 2008 to 2010. Counselees with an indication for diagnostic DNA-testing for themselves or a breast cancer affected relative were requested to complete online questionnaires before and after counseling and one year after counseling (N?=?152–124). Self-reported surveillance was compared to surveillance recommendations. Consultations were videotaped. Counselees’ reactions to the risks and recommendations were coded. Statements about the risk perception and surveillance intentions of breast cancer unaffected counselees were transcribed. Associations with outcomes were explored. Almost all breast cancer unaffected counselees (>90 %) reacted to their risk estimate with an utterance indicating understanding and this reaction was not significantly associated with their post-visit risk perception alignment. Over one-third (38.6 %) overestimated their risk post-counseling. Few counselees (5.8 %) expressed surveillance intentions. One year after counseling, about three-quarters (74.0 %) of the breast cancer unaffected counselees had adhered to the surveillance recommendation. Almost one-quarter (23.3 %) had performed more mammograms/MRI scans than recommended, which was associated with prior mammography uptake (n?=?47; X 2 ?=?5.2; p?=?.02). Counselees’ post-counseling overestimation of their risk, high levels of worry and high surveillance uptake were not reflected in their reactions to the counselor’s information during the final visit.  相似文献   

14.
This study aims at exploring a structural model of satisfaction with life’s (SWL) predictors in a cross-national sample of older adults. A quantitative approach was followed with a cross-sectional study design. A community-dwelling sample of 1,234 older adults from four different nationalities residing in Portugal, was assessed regarding SWL, sense of coherence (SOC) and socio-demographic, lifestyle and health-related characteristics. Sampling was performed in lifelong learning centres’ message boards and local community centres’ list-serves in the Lisbon metropolitan area and in the Algarve region. Structural equation modeling was used to investigate a structural model of the self-reported SWL, comprising SOC, socio-demographic characteristics (age, sex, education, marital and professional status, household, adult children, income, living setting and religion), as well as lifestyle and health-related characteristics (physical activity, recent disease and medication). Significant predictors are SOC (β?=?0.733; p?<?0.001), religion (β?=?0.725; p?<?0.001), income (β?=?0.551; p?<?0.001), adult children (β?=?0.546; p?<?0.001), education (β?=??0.403; p?<?0.001), living setting (β?=??0.292; p?<?0.001) and medication (β?=??. 197; p?<?0.001). The variables accounted for 24.8 % of the variability of SWL. Moreover, differences between the four nationality groups (F (3, 671)?=?3.671, p?=?0.066) were not found concerning SWL. Sense of coherence is the strongest predictor of self-reported SWL. Other predictors are religion, income, adult children, education, living setting and medication. The four nationalities did not present significant differences, concerning SWL. This study points out the potential factors that influence older adults’ SWL, in particular SOC, religion and income, as promoters of aging well, within a salutogenic model of health for older populations.  相似文献   

15.
Twenty-eight former genetic counseling clients seen at a major Midwestern university were recruited to be interviewed about their genetic counseling experiences, including most and least helpful aspects, what they learned, how this information impacted their decision-making, and their perceptions of their genetic counselors' behaviors. Responses were inductively analyzed, and several themes were identified, including: Clients sought genetic counseling to obtain genetic-medical information; a majority accurately recalled this information; genetic counseling influenced decisions for about 50% of the sample; decision-making was affected by several extra-session factors; a majority experienced distress during the session; most perceived genetic counselor responses as nondirective and liked this approach; counselor behaviors regarded as directive involved discussion of pregnancy termination; participants disagreed about the need for and provision of genetic counselor support; most regarded the session as helpful and stated that they would seek genetic counseling again. Suggestions for addressing these issues in practice and research are given.  相似文献   

16.
The paper-based pedigree is the current standard for family health history (FHH) documentation in genetic counseling. Several tools for electronic capture of family health data have been developed to improve re-use and accessibility, data quality and standardization, ease of updating, and integration with electronic medical records. One such tool, the tablet-based Proband application, provides a flexible approach to data capture in dynamic and diverse clinical settings. This study compared Proband FHH collection to paper-based methods and investigated the usability of Proband in a clinical setting. After one use by 23 genetic counselors and students, Proband had 91% accuracy with a FHH audio scenario, which was significantly less (p?<?0.001) than paper’s 96% accuracy. These differences were attributed to incorrect or missing ages of grandparents (p?<?0.001) and great-aunts/uncles (p?=?0.012) and missing documentation of consanguinity (p?<?0.001). Possible explanations for these differences include greater experience with paper FHH documentation and pre-populated prompts for consanguinity on the paper template used. Proband’s perceived usability increased with use, with individual System Usability Scores increasing between first and last use (p?=?0.033). We conclude that tools for dynamic, provider-driven FHH documentation such as Proband show promise for improving risk assessment accuracy and quality patient care.  相似文献   

17.
The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p?<?0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p?=?0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p?<?0.001) and referral rate (26.3 vs. 52%, p?<?0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p?=?0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU.  相似文献   

18.
Personal genome sequencing is increasingly utilized by healthy individuals for predispositional screening and other applications. However, little is known about the impact of ‘genomic counseling’ on informed decision-making in this context. Our primary aim was to compare measures of participants’ informed decision-making before and after genomic counseling in the HealthSeq project, a longitudinal cohort study of individuals receiving personal results from whole genome sequencing (WGS). Our secondary aims were to assess the impact of the counseling on WGS knowledge and concerns, and to explore participants’ satisfaction with the counseling. Questionnaires were administered to participants (n = 35) before and after their pre-test genomic counseling appointment. Informed decision-making was measured using the Decisional Conflict Scale (DCS) and the Satisfaction with Decision Scale (SDS). DCS scores decreased after genomic counseling (mean: 11.34 before vs. 5.94 after; z = ?4.34, p < 0.001, r = 0.52), and SDS scores increased (mean: 27.91 vs. 29.06 respectively; z = 2.91, p = 0.004, r = 0.35). Satisfaction with counseling was high (mean (SD) = 26.91 (2.68), on a scale where 6 = low and 30 = high satisfaction). HealthSeq participants felt that their decision regarding receiving personal results from WGS was more informed after genomic counseling. Further research comparing the impact of different genomic counseling models is needed.  相似文献   

19.
This study’s purpose was to measure clergy’s counseling, referral, and supportive activities for those with depression. Among a Minnesota sample (n?=?367), nearly 80 % (n?=?284) reported counseling their members (mean of 10.25 h/month), with 25 % providing mental health counseling (mean of 2.76 h/month). Ninety-one percent (n?=?336) reported ability to recognize depression, and 64 % (n?=?236) reported moderate to high ability in effectively counseling those with depression. Age, past academic counseling coursework/certification, hours of counseling, and number of individuals counseled were significant predictors of clergy’s self-efficacy in counseling for depression. A mean of 6.14 individuals approached clergy for depression-related help; clergy reported a mean of 3.86 referrals for mental health care. Nearly 90 % stated that one of the roles of the clergy is to provide mental health education.  相似文献   

20.
This study aims to investigate the associations between quality of life, physical activity and mood states in women with breast cancer. A total of 354 women (mean age, 51.74?±?8.63 years; body mass index (BMI), 28?±?5.67 kg/m2) completed the Baecke Physical Activity Questionnaire, Profile of Mood States (POMS), European Organisation for Research and Treatment of Cancer Core Quality of Life Questionnaire (EORTC QLQ-C30) and European Organisation for Research and Treatment of Cancer Breast Cancer-Specific Quality of Life Questionnaire (EORTC QLQ-BR23). Pearson’s correlation and multiple linear regressions were used to verify the relations between outcomes and independent variables. Correlations between scores on POMS, Baecke Physical Activity Questionnaire and global health status/quality of life subscale of EORTC QLQ-C30 found associations (p?<?0.01) between physical activity (r?=?0.191), vigour (r?=?0.333) and fatigue (r?=??0.433). Multiple linear regression analysis of the global health status/quality of life subscale of the EORTC QLQ-C30 showed significant differences for vigour (p?<?0.001), social function (p?=?0.003), side effects of systemic therapy (p?=?0.019), arm and breast symptoms (p?<?0.001) and Baecke physical activity score (p?=?0.006). Physical activity is an independent factor related to the quality of life in women with breast cancer. Understanding these variables may influence clinical decisions during treatment and allow positive interventions regarding symptoms, functions and lifestyle.  相似文献   

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